#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
CDK11B	984	broad.mit.edu	37	1	1573207	1573207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:1573207C>A	ENST00000407249.3	-	14	1389	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	CDK11B_ENST00000340677.5_Nonsense_Mutation_p.E451*|CDK11B_ENST00000341832.6_Nonsense_Mutation_p.E417*|CDK11B_ENST00000317673.7_Nonsense_Mutation_p.E462*			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E464*(1)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCCTCCTTCTCCTTCTCCATC	0.532																																							uc001agv.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1381-1383)GAG>TAG		cell division cycle 2-like 1 (PITSLRE proteins)							191.0	196.0	195.0					1																	1573207		2012	4184	6196	SO:0001587	stop_gained	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1573207C>A	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.1390G>T	1.37:g.1573207C>A	ENSP00000464036:p.Glu464*					CDK11B_uc009vkj.2_Nonsense_Mutation_p.E118*|CDK11B_uc001ags.1_Nonsense_Mutation_p.E319*|CDK11B_uc001agt.1_Nonsense_Mutation_p.E244*|CDK11B_uc001aha.1_Nonsense_Mutation_p.E427*|CDK11B_uc001agw.1_Nonsense_Mutation_p.E416*|CDK11B_uc001agy.1_Nonsense_Mutation_p.E459*|CDK11B_uc001agx.1_Nonsense_Mutation_p.E450*|CDK11B_uc001agz.1_Nonsense_Mutation_p.E205*	p.E461*	NM_033486	NP_277021	P21127	CD11B_HUMAN			17	1492	-			474			Protein kinase.		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Nonsense_Mutation	SNP	ENST00000407249.3	37	c.1381G>T																																																																																					0.532	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		36	56	1	0	9.45814e-24	0.004878	1.88499e-23	36	56				
CCDC27	148870	broad.mit.edu	37	1	3669132	3669132	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:3669132C>A	ENST00000294600.2	+	1	171	c.87C>A	c.(85-87)tcC>tcA	p.S29S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	29								p.S29S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CATTCAGGTCCACATTCAGGC	0.567																																							uc001akv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(85-87)TCC>TCA		coiled-coil domain containing 27							151.0	128.0	136.0					1																	3669132		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3669132C>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.87C>A	1.37:g.3669132C>A							p.S29S	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	1	168	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	29					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.87C>A	CCDS50.1																																																																																				0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		13	50	1	0	0.000308642	0.003163	0.000399792	13	50				
DNAJC11	55735	broad.mit.edu	37	1	6705159	6705159	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:6705159T>C	ENST00000377577.5	-	9	1045	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Missense_Mutation_p.I270V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.I308V|DNAJC11_ENST00000377573.5_Missense_Mutation_p.I218V|DNAJC11_ENST00000465508.1_5'Flank	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	308						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.I308V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TGATAGCTGATCAGTGCAAAG	0.542																																							uc001aof.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(922-924)ATC>GTC		DnaJ (Hsp40) homolog, subfamily C, member 11							252.0	229.0	237.0					1																	6705159		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6705159T>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.922A>G	1.37:g.6705159T>C	ENSP00000366800:p.Ile308Val					DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Missense_Mutation_p.I308V|DNAJC11_uc010nzu.1_Missense_Mutation_p.I218V	p.I308V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	9	1028	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	308					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.922A>G	CCDS87.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109684	0.37242	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.20598	2.64;2.65;2.38;2.06	5.8	5.8	0.92144	.	0.111725	0.64402	D	0.000002	T	0.09949	0.0244	N	0.08118	0	0.39160	D	0.962396	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.24440	-1.0160	10	0.27785	T	0.31	-6.1769	6.902	0.24288	0.0:0.1624:0.0:0.8376	.	218;308;308	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	V	308;308;270;218	ENSP00000366800:I308V;ENSP00000294401:I308V;ENSP00000444020:I270V;ENSP00000366796:I218V	ENSP00000294401:I308V	I	-	1	0	DNAJC11	6627746	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.404000	0.44539	2.209000	0.71365	0.533000	0.62120	ATC		0.542	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		14	168	0	0	0	0.006122	0	14	168				
PRAMEF4	400735	broad.mit.edu	37	1	12942103	12942103	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:12942103C>A	ENST00000235349.5	-	3	517	c.447G>T	c.(445-447)ttG>ttT	p.L149F		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	149					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.L149F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		CGAACACAGTCAAGGGCTGCC	0.498																																							uc001aun.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(445-447)TTG>TTT		PRAME family member 4							37.0	41.0	40.0					1																	12942103		1437	2646	4083	SO:0001583	missense	400735							g.chr1:12942103C>A		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.447G>T	1.37:g.12942103C>A	ENSP00000235349:p.Leu149Phe						p.L149F	NM_001009611	NP_001009611	O60810	PRAM4_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)	3	518	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	149					Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	c.447G>T	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	c	6.220	0.408817	0.11812	.	.	ENSG00000243073	ENST00000235349	T	0.04758	3.56	1.48	-2.96	0.05547	.	0.572736	0.14285	N	0.329280	T	0.05181	0.0138	M	0.64170	1.965	0.09310	N	1	P	0.34837	0.472	B	0.35727	0.209	T	0.19321	-1.0309	10	0.48119	T	0.1	.	4.1655	0.10305	0.0:0.3606:0.4609:0.1785	.	149	O60810	PRAM4_HUMAN	F	149	ENSP00000235349:L149F	ENSP00000235349:L149F	L	-	3	2	PRAMEF4	12864690	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.811000	0.04500	-0.877000	0.04012	0.400000	0.26472	TTG		0.498	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		38	137	1	0	5.13769e-22	0.00361	1.01857e-21	38	137				
PADI6	353238	broad.mit.edu	37	1	17708498	17708498	+	RNA	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:17708498A>T	ENST00000434762.2	+	0	640							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.Q197L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTGAATGTCCAAGGCCCCAGC	0.498																																							uc001bak.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(589-591)CAA>CTA		peptidylarginine deiminase type 6	L-Citrulline(DB00155)						88.0	87.0	88.0					1																	17708498		1907	4117	6024			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17708498A>T	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17708498A>T							p.Q197L	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	6	590	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	189					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.590A>T																																																																																					0.498	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		6	38	0	0	0	0.001168	0	6	38				
TAS1R2	80834	broad.mit.edu	37	1	19180801	19180801	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:19180801A>T	ENST00000375371.3	-	3	1184	c.1163T>A	c.(1162-1164)gTg>gAg	p.V388E	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	388					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.V388E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGCAGAGTACACGCTGTAGAC	0.592																																							uc001bba.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1162-1164)GTG>GAG		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						107.0	95.0	99.0					1																	19180801		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19180801A>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1163T>A	1.37:g.19180801A>T	ENSP00000364520:p.Val388Glu						p.V388E	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	1164	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	388			Extracellular (Potential).		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.1163T>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931190	0.52866	.	.	ENSG00000179002	ENST00000375371	D	0.84944	-1.92	4.31	4.31	0.51392	Extracellular ligand-binding receptor (1);	0.203859	0.24623	N	0.036958	D	0.91788	0.7402	M	0.83852	2.665	0.58432	D	0.999997	D	0.89917	1.0	D	0.79784	0.993	D	0.92545	0.6045	10	0.87932	D	0	.	11.4528	0.50162	1.0:0.0:0.0:0.0	.	388	Q8TE23	TS1R2_HUMAN	E	388	ENSP00000364520:V388E	ENSP00000364520:V388E	V	-	2	0	TAS1R2	19053388	1.000000	0.71417	0.967000	0.41034	0.155000	0.21991	8.502000	0.90505	1.808000	0.52836	0.379000	0.24179	GTG		0.592	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			3	23	0	0	0	0.004672	0	3	23				
TMCO4	255104	broad.mit.edu	37	1	20009760	20009760	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:20009760C>A	ENST00000294543.6	-	16	1919	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.G520W	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	560						integral component of membrane (GO:0016021)		p.G560W(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGGTTTGCCCAACCTGGTGG	0.662																																							uc001bcn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1678-1680)GGG>TGG		transmembrane and coiled-coil domains 4							57.0	62.0	60.0					1																	20009760		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20009760C>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1678G>T	1.37:g.20009760C>A	ENSP00000294543:p.Gly560Trp					TMCO4_uc001bcm.2_Missense_Mutation_p.G391W|TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	p.G560W	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	1920	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	560					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1678G>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485546	0.44147	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.32515	1.46;1.45	4.61	1.5	0.22942	.	0.809698	0.10540	N	0.662824	T	0.31638	0.0803	L	0.29908	0.895	0.09310	N	1	P;D	0.54964	0.934;0.969	P;P	0.56278	0.529;0.795	T	0.13953	-1.0490	10	0.66056	D	0.02	-15.6685	4.1955	0.10441	0.1568:0.5939:0.1535:0.0958	.	560;520	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	W	560;520	ENSP00000294543:G560W;ENSP00000364264:G520W	ENSP00000294543:G560W	G	-	1	0	TMCO4	19882347	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.270000	0.18607	1.062000	0.40625	0.655000	0.94253	GGG		0.662	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		15	63	1	0	1.37285e-15	0.004007	2.65232e-15	15	63				
SRRM1	10250	broad.mit.edu	37	1	24977944	24977944	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:24977944T>A	ENST00000323848.9	+	6	881	c.566T>A	c.(565-567)gTc>gAc	p.V189D	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.V189D|SRRM1_ENST00000537199.1_Intron|SRRM1_ENST00000447431.2_Missense_Mutation_p.V189D	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	189	Arg-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.V189D(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCTTCCCCTGTCAGGAGAGAG	0.463																																					Ovarian(68;897 1494 3282 17478)	Ovarian(68;897 1494 3282 17478)	uc001bjm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(565-567)GTC>GAC		serine/arginine repetitive matrix 1							50.0	53.0	52.0					1																	24977944		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24977944T>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.566T>A	1.37:g.24977944T>A	ENSP00000326261:p.Val189Asp					SRRM1_uc010oel.1_Missense_Mutation_p.V189D|SRRM1_uc009vrh.1_Missense_Mutation_p.V150D|SRRM1_uc009vri.1_Missense_Mutation_p.V106D|SRRM1_uc010oem.1_Intron	p.V189D	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	6	790	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	189			Arg-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.566T>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.225998	0.39300	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.43688	0.94;0.96;0.97	5.81	5.81	0.92471	.	0.111972	0.39687	N	0.001298	T	0.45518	0.1346	L	0.46157	1.445	0.80722	D	1	D;P	0.54964	0.969;0.948	P;B	0.50708	0.648;0.446	T	0.26430	-1.0103	10	0.12766	T	0.61	-1.0888	16.1549	0.81657	0.0:0.0:0.0:1.0	.	189;189	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	D	189	ENSP00000326261:V189D;ENSP00000391430:V189D;ENSP00000363510:V189D	ENSP00000326261:V189D	V	+	2	0	SRRM1	24850531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.610000	0.46325	2.207000	0.71202	0.528000	0.53228	GTC		0.463	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		4	23	0	0	0	0.000602	0	4	23				
FNDC5	252995	broad.mit.edu	37	1	33333801	33333801	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:33333801G>T	ENST00000373471.3	-	3	465	c.399C>A	c.(397-399)tcC>tcA	p.S133S	FNDC5_ENST00000496770.1_Silent_p.S58S|FNDC5_ENST00000609187.1_Silent_p.S58S	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	133					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)		p.S58S(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTTTGTTCTTGGAGGCCATCT	0.602																																							uc001bwg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(172-174)TCC>TCA		fibronectin type III domain containing 5							111.0	116.0	114.0					1																	33333801		2203	4300	6503	SO:0001819	synonymous_variant	252995					integral to membrane|peroxisomal membrane		g.chr1:33333801G>T	AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"""Fibronectin type III domain containing"""	20240	protein-coding gene	gene with protein product	"""irisin"""	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000373471.3:c.399C>A	1.37:g.33333801G>T						FNDC5_uc001bwf.1_Silent_p.S58S	p.S58S	NM_153756	NP_715637	Q8NAU1	FNDC5_HUMAN			3	389	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	117			Extracellular (Potential).		A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Silent	SNP	ENST00000373471.3	37	c.174C>A																																																																																					0.602	FNDC5-001	KNOWN	non_ATG_start|basic	protein_coding	protein_coding	OTTHUMT00000011467.3	NM_153756		11	105	1	0	5.50884e-06	0.001368	8.26689e-06	11	105				
C1orf94	84970	broad.mit.edu	37	1	34663443	34663443	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:34663443A>C	ENST00000488417.1	+	2	1058	c.938A>C	c.(937-939)cAg>cCg	p.Q313P	C1orf94_ENST00000373374.3_Missense_Mutation_p.Q123P	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	313								p.Q123P(1)|p.Q313P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGAAGAGGCAGCTCCCAGTG	0.612																																							uc001bxs.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(367-369)CAG>CCG		hypothetical protein LOC84970 isoform b							52.0	49.0	50.0					1																	34663443		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663443A>C	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.938A>C	1.37:g.34663443A>C	ENSP00000435634:p.Gln313Pro					C1orf94_uc001bxt.2_Missense_Mutation_p.Q313P	p.Q123P	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			2	767	+		Myeloproliferative disorder(586;0.0393)	123					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.368A>C	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655254	0.67472	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.36340	1.26;1.26	4.99	4.99	0.66335	.	0.115684	0.39274	N	0.001410	T	0.53769	0.1817	L	0.59436	1.845	0.40134	D	0.976753	D	0.76494	0.999	D	0.80764	0.994	T	0.58165	-0.7684	10	0.72032	D	0.01	-21.2886	11.059	0.47936	1.0:0.0:0.0:0.0	.	313	Q6P1W5	CA094_HUMAN	P	123;313	ENSP00000362472:Q123P;ENSP00000435634:Q313P	ENSP00000362472:Q123P	Q	+	2	0	C1orf94	34436030	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.422000	0.66453	1.869000	0.54173	0.455000	0.32223	CAG		0.612	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		4	45	0	0	0	0.000602	0	4	45				
TRAPPC3	27095	broad.mit.edu	37	1	36603508	36603508	+	Silent	SNP	G	G	A	rs568901820		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:36603508G>A	ENST00000373166.3	-	4	402	c.312C>T	c.(310-312)tcC>tcT	p.S104S	TRAPPC3_ENST00000373159.1_3'UTR|TRAPPC3_ENST00000373162.1_Silent_p.S58S|TRAPPC3_ENST00000373163.1_Silent_p.S58S|TRAPPC3_ENST00000462715.1_5'UTR	NM_001270894.1|NM_014408.4	NP_001257823.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	104					ER to Golgi vesicle-mediated transport (GO:0006888)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|TRAPP complex (GO:0030008)		p.S104S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				CCAAAATGAGGGAGAATTCAT	0.478																																							uc001bzx.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(310-312)TCC>TCT		trafficking protein particle complex 3							94.0	97.0	96.0					1																	36603508		2203	4300	6503	SO:0001819	synonymous_variant	27095					endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr1:36603508G>A	AF041432	CCDS404.1, CCDS59194.1, CCDS72757.1, CCDS72758.1	1p34.2	2011-10-10			ENSG00000054116	ENSG00000054116		"""Trafficking protein particle complex"""	19942	protein-coding gene	gene with protein product		610955				8619474	Standard	NM_014408		Approved	BET3	uc031pls.1	O43617	OTTHUMG00000007664	ENST00000373166.3:c.312C>T	1.37:g.36603508G>A						TRAPPC3_uc001bzy.2_Silent_p.S58S	p.S104S	NM_014408	NP_055223	O43617	TPPC3_HUMAN			4	400	-		Myeloproliferative disorder(586;0.0393)	104					A6NDN0|B2RDN2|D3DPS2	Silent	SNP	ENST00000373166.3	37	c.312C>T	CCDS404.1																																																																																				0.478	TRAPPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020384.1	NM_014408		20	45	0	0	0	0.001523	0	20	45				
OSCP1	127700	broad.mit.edu	37	1	36884607	36884607	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:36884607G>T	ENST00000356637.5	-	10	1101	c.1038C>A	c.(1036-1038)aaC>aaA	p.N346K	OSCP1_ENST00000495222.1_Intron|OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000433045.2_Missense_Mutation_p.N291K|SNORA63_ENST00000364578.1_RNA|OSCP1_ENST00000235532.5_Missense_Mutation_p.N336K			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	346					transport (GO:0006810)	plasma membrane (GO:0005886)		p.N346K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TGGCTTGTATGTTGATAACTT	0.458																																							uc001cap.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1036-1038)AAC>AAA		oxidored-nitro domain-containing protein isoform							349.0	325.0	334.0					1																	36884607		2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36884607G>T		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.1038C>A	1.37:g.36884607G>T	ENSP00000349052:p.Asn346Lys					OSCP1_uc001caq.2_Missense_Mutation_p.N336K	p.N346K	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN			10	1120	-			346					A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.1038C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.26|14.26	2.482772|2.482772	0.44147|0.44147	.|.	.|.	ENSG00000116885|ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045|ENST00000468441	T;T;T|.	0.31247|.	1.92;1.93;1.5|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.177024|.	0.64402|.	D|.	0.000012|.	T|T	0.75466|0.75466	0.3853|0.3853	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	B;B|.	0.17268|.	0.016;0.021|.	B;B|.	0.21546|.	0.028;0.035|.	T|T	0.74572|0.74572	-0.3621|-0.3621	10|5	0.34782|.	T|.	0.22|.	.|.	18.2139|18.2139	0.89879|0.89879	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	336;346|.	Q8WVF1-3;Q8WVF1|.	.;OSCP1_HUMAN|.	K|K	336;346;291|74	ENSP00000235532:N336K;ENSP00000349052:N346K;ENSP00000390820:N291K|.	ENSP00000235532:N336K|.	N|T	-|-	3|2	2|0	OSCP1|OSCP1	36657194|36657194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	2.572000|2.572000	0.45999|0.45999	2.547000|2.547000	0.85894|0.85894	0.645000|0.645000	0.84053|0.84053	AAC|ACA		0.458	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		22	130	1	0	1.64293e-13	0.00333	3.1315e-13	22	130				
MACF1	23499	broad.mit.edu	37	1	39800883	39800883	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:39800883G>C	ENST00000372915.3	+	36	8725	c.8638G>C	c.(8638-8640)Ggt>Cgt	p.G2880R	MACF1_ENST00000289893.4_Missense_Mutation_p.G1315R|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.G2912R|MACF1_ENST00000564288.1_Missense_Mutation_p.G2875R|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2880					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.G1315R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAATCTTAAAGGTAAATCCTT	0.343																																							uc010oiu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3943-3945)GGT>CGT		microfilament and actin filament cross-linker							68.0	74.0	72.0					1																	39800883		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800883G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8638G>C	1.37:g.39800883G>C	ENSP00000362006:p.Gly2880Arg					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.G1315R	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4074	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2880					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3943G>C		.	.	.	.	.	.	.	.	.	.	G	8.111	0.778763	0.16120	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61510	0.1;1.07	5.37	2.41	0.29592	.	0.758595	0.11366	N	0.571381	T	0.39036	0.1063	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.25152	-1.0140	10	0.40728	T	0.16	.	5.9419	0.19198	0.1767:0.1559:0.6675:0.0	.	2880	Q9UPN3	MACF1_HUMAN	R	2880;1315	ENSP00000362006:G2880R;ENSP00000289893:G1315R	ENSP00000289893:G1315R	G	+	1	0	MACF1	39573470	0.004000	0.15560	0.110000	0.21437	0.114000	0.19823	1.185000	0.32065	0.637000	0.30526	0.591000	0.81541	GGT		0.343	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		14	39	0	0	0	0.003163	0	14	39				
MACF1	23499	broad.mit.edu	37	1	39853090	39853090	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:39853090C>G	ENST00000372915.3	+	57	14678	c.14591C>G	c.(14590-14592)tCt>tGt	p.S4864C	MACF1_ENST00000289893.4_Missense_Mutation_p.S3299C|MACF1_ENST00000317713.7_Missense_Mutation_p.S2797C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2776C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2797C|MACF1_ENST00000567887.1_Missense_Mutation_p.S4896C|MACF1_ENST00000564288.1_Missense_Mutation_p.S4859C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2797C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4864					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S2797C(1)|p.S3299C(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGGGGAATCTCTACTTCTT	0.433																																							uc010oiu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(9895-9897)TCT>TGT		microfilament and actin filament cross-linker							119.0	136.0	130.0					1																	39853090		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853090C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14591C>G	1.37:g.39853090C>G	ENSP00000362006:p.Ser4864Cys					MACF1_uc010ois.1_Missense_Mutation_p.S2797C|MACF1_uc001cda.1_Missense_Mutation_p.S2684C|MACF1_uc001cdc.1_Missense_Mutation_p.S1863C	p.S3299C	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		22	10027	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4864			Spectrin 4.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9896C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.688889|3.688889	0.68271|0.68271	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.52057	.|0.68;0.68;0.68;0.68;0.68;0.68	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.204155	.|0.35067	.|N	.|0.003463	T|T	0.66877|0.66877	0.2834|0.2834	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.65815	.|0.995;0.877;0.948	.|D;P;P	.|0.68483	.|0.958;0.754;0.769	T|T	0.64580|0.64580	-0.6374|-0.6374	5|10	.|0.66056	.|D	.|0.02	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4864;2797;2741	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	M|C	1909|2797;4864;2797;2797;2776;3299	.|ENSP00000439537:S2797C;ENSP00000362006:S4864C;ENSP00000354573:S2797C;ENSP00000313438:S2797C;ENSP00000444364:S2776C;ENSP00000289893:S3299C	.|ENSP00000289893:S3299C	I|S	+|+	3|2	3|0	MACF1|MACF1	39625677|39625677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.933000|4.933000	0.63484|0.63484	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	ATC|TCT		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	149	0	0	0	0.006214	0	10	149				
HIVEP3	59269	broad.mit.edu	37	1	42046123	42046123	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:42046123C>A	ENST00000372583.1	-	4	5231	c.4346G>T	c.(4345-4347)aGa>aTa	p.R1449I	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1449I|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1449I|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1449I|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1449					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1449I(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCTTCACTCTTTTTTGCTG	0.527																																							uc001cgz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4345-4347)AGA>ATA		human immunodeficiency virus type I enhancer							111.0	111.0	111.0					1																	42046123		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42046123C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4346G>T	1.37:g.42046123C>A	ENSP00000361664:p.Arg1449Ile					HIVEP3_uc001cha.3_Missense_Mutation_p.R1449I|HIVEP3_uc001cgy.2_RNA	p.R1449I	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	5559	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1449			Potential.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4346G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163134	0.78226	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.34472	1.4;1.36;1.36;1.4	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000025	T	0.65575	0.2704	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69595	-0.5103	10	0.87932	D	0	-21.4752	18.8697	0.92308	0.0:1.0:0.0:0.0	.	1449;1449	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	I	1449	ENSP00000361665:R1449I;ENSP00000361664:R1449I;ENSP00000247584:R1449I;ENSP00000410828:R1449I	ENSP00000247584:R1449I	R	-	2	0	HIVEP3	41818710	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.651000	0.83577	2.788000	0.95919	0.650000	0.86243	AGA		0.527	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		35	71	1	0	2.05212e-20	0.005524	4.04723e-20	35	71				
SCP2	6342	broad.mit.edu	37	1	53480639	53480639	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:53480639G>T	ENST00000528311.1	+	11	1212	c.916G>T	c.(916-918)Gct>Tct	p.A306S	SCP2_ENST00000371514.3_Missense_Mutation_p.A387S|SCP2_ENST00000488965.1_5'Flank|SCP2_ENST00000407246.2_Missense_Mutation_p.A363S|SCP2_ENST00000371509.4_Missense_Mutation_p.A343S|SCP2_ENST00000435345.2_5'Flank|SCP2_ENST00000430330.2_5'UTR|SCP2_ENST00000408941.3_5'UTR	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.A387S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TGCAAAGGTGGCTCTGCAGCA	0.512																																							uc001cur.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1159-1161)GCT>TCT		sterol carrier protein 2 isoform 1 proprotein							159.0	148.0	152.0					1																	53480639		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53480639G>T	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.916G>T	1.37:g.53480639G>T	ENSP00000434132:p.Ala306Ser					SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.A306S|SCP2_uc010onp.1_Missense_Mutation_p.A363S|SCP2_uc009vzi.1_Missense_Mutation_p.A343S|SCP2_uc010onq.1_5'UTR|SCP2_uc001cut.1_5'UTR|SCP2_uc001cuu.1_5'UTR	p.A387S	NM_002979	NP_002970	P22307	NLTP_HUMAN			12	1280	+			387					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.1159G>T	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.183421|5.183421	0.94885|0.94885	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246|ENST00000478274;ENST00000484100	D;T;D;D|.	0.83914|.	-1.78;-0.74;-1.78;-1.78|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Thiolase-like (1);|.	0.055787|.	0.64402|.	D|.	0.000001|.	T|T	0.78528|0.78528	0.4297|0.4297	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.81914|.	0.995;0.995;0.989|.	T|T	0.79383|0.79383	-0.1826|-0.1826	10|5	0.87932|.	D|.	0|.	-15.3919|-15.3919	18.0262|18.0262	0.89270|0.89270	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	363;343;387|.	C9JC79;A6NM69;P22307|.	.;.;NLTP_HUMAN|.	S|V	387;306;343;363|1	ENSP00000360569:A387S;ENSP00000434132:A306S;ENSP00000360564:A343S;ENSP00000384569:A363S|.	ENSP00000360564:A343S|.	A|G	+|+	1|2	0|0	SCP2|SCP2	53253227|53253227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.498000|8.498000	0.90492|0.90492	2.626000|2.626000	0.88956|0.88956	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.512	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		10	37	1	0	3.86212e-05	0.008291	5.4165e-05	10	37				
LRP8	7804	broad.mit.edu	37	1	53755277	53755277	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:53755277T>A	ENST00000306052.6	-	3	430	c.329A>T	c.(328-330)gAg>gTg	p.E110V	LRP8_ENST00000347547.2_Missense_Mutation_p.E110V|LRP8_ENST00000371454.2_Missense_Mutation_p.E110V|LRP8_ENST00000354412.3_Missense_Mutation_p.E110V|LRP8_ENST00000465675.1_5'UTR|RP4-784A16.3_ENST00000450469.1_RNA|RP4-784A16.2_ENST00000421637.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	110	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.E110V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ATCAGGACACTCCTCCTCGCC	0.597																																							uc001cvi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(328-330)GAG>GTG		low density lipoprotein receptor-related protein							115.0	83.0	94.0					1																	53755277		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53755277T>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.329A>T	1.37:g.53755277T>A	ENSP00000303634:p.Glu110Val					LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Missense_Mutation_p.E110V|LRP8_uc001cvj.1_Missense_Mutation_p.E110V|LRP8_uc001cvl.1_Missense_Mutation_p.E110V	p.E110V	NM_004631	NP_004622	Q14114	LRP8_HUMAN			3	471	-			110			LDL-receptor class A 2.|Extracellular (Potential).		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.329A>T	CCDS578.1	.	.	.	.	.	.	.	.	.	.	T	32	5.158923	0.94686	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.18	5.18	0.71444	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	.	.	.	.	D	0.97570	0.9204	M	0.83483	2.645	0.32183	N	0.580112	P;P;P;D	0.64830	0.911;0.584;0.946;0.994	P;P;P;D	0.71656	0.547;0.601;0.786;0.974	D	0.98507	1.0617	9	0.87932	D	0	.	14.1385	0.65303	0.0:0.0:0.0:1.0	.	110;110;110;110	Q14114-2;Q14114-4;Q14114-3;Q14114	.;.;.;LRP8_HUMAN	V	110	ENSP00000303634:E110V;ENSP00000360509:E110V;ENSP00000346391:E110V;ENSP00000334522:E110V	ENSP00000303634:E110V	E	-	2	0	LRP8	53527865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.426000	0.80270	2.181000	0.69327	0.533000	0.62120	GAG		0.597	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		4	12	0	0	0	0.000248	0	4	12				
MROH7	374977	broad.mit.edu	37	1	55134563	55134563	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:55134563C>T	ENST00000421030.2	+	5	1627	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	MROH7_ENST00000395690.2_Silent_p.L448L|MROH7-TTC4_ENST00000414150.2_Silent_p.L448L|MROH7_ENST00000339553.5_Silent_p.L448L|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000409996.1_Silent_p.L16L|MROH7_ENST00000545244.1_Silent_p.L16L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	448						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L448L(4)									GAGCCAGGATCTGCTGGAGGC	0.557																																							uc010ooe.1		NA																	4	Substitution - coding silent(4)		lung(4)		0						c.(1342-1344)CTG>TTG		hypothetical protein LOC374977							96.0	93.0	94.0					1																	55134563		1900	4130	6030	SO:0001819	synonymous_variant	374977					integral to membrane	binding	g.chr1:55134563C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1342C>T	1.37:g.55134563C>T						C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L16L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_5'UTR|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L448L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.L448L	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			5	1666	+			448					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.1342C>T	CCDS41342.2																																																																																				0.557	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		11	47	0	0	0	0.000978	0	11	47				
MROH7	374977	broad.mit.edu	37	1	55166854	55166854	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:55166854G>T	ENST00000421030.2	+	19	3429	c.3144G>T	c.(3142-3144)aaG>aaT	p.K1048N	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.K1048N|MROH7_ENST00000454855.2_Missense_Mutation_p.K566N|MROH7_ENST00000409996.1_Missense_Mutation_p.K616N	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1048						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.K1048N(1)|p.K1045N(1)									CCATGGTGAAGGGCCTGAAGA	0.592																																							uc010ooe.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3142-3144)AAG>AAT		hypothetical protein LOC374977							75.0	79.0	77.0					1																	55166854		2071	4213	6284	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55166854G>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3144G>T	1.37:g.55166854G>T	ENSP00000396622:p.Lys1048Asn					C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.K566N|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.K250N	p.K1048N	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			19	3468	+			1048			HEAT 2.		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.3144G>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908853	0.33721	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000409996;ENST00000454855;ENST00000371287	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.88	2.94	0.34122	Armadillo-like helical (1);Armadillo-type fold (1);	0.104089	0.42420	D	0.000707	T	0.39306	0.1073	L	0.41079	1.255	0.37798	D	0.927584	D;D	0.89917	0.999;1.0	D;D	0.87578	0.98;0.998	T	0.26121	-1.0112	10	0.25106	T	0.35	-21.1037	7.8611	0.29509	0.1955:0.0:0.8045:0.0	.	1048;1048	Q68CQ1;Q68CQ1-9	HEAT8_HUMAN;.	N	1048;1077;616;566;117	ENSP00000396622:K1048N;ENSP00000387048:K616N;ENSP00000401130:K566N;ENSP00000360336:K117N	ENSP00000360336:K117N	K	+	3	2	HEATR8	54939442	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	0.592000	0.23984	1.255000	0.44051	0.313000	0.20887	AAG		0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		6	33	1	0	3.59834e-05	0.001168	5.08422e-05	6	33				
DAB1	1600	broad.mit.edu	37	1	57476878	57476878	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:57476878G>T	ENST00000371231.1	-	14	1645	c.1611C>A	c.(1609-1611)acC>acA	p.T537T	DAB1_ENST00000371236.2_Silent_p.T504T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.T504T|DAB1_ENST00000439789.2_Silent_p.T418T|DAB1_ENST00000420954.2_Silent_p.T502T|DAB1_ENST00000414851.2_Silent_p.T486T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	537					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.T504T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGTCATCTGTGGTAGGATCAC	0.448																																							uc001cys.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1510-1512)ACC>ACA		disabled homolog 1							138.0	136.0	137.0					1																	57476878		2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57476878G>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1611C>A	1.37:g.57476878G>T						DAB1_uc001cyt.1_Silent_p.T502T|DAB1_uc001cyq.1_Silent_p.T502T|DAB1_uc001cyr.1_Silent_p.T418T|DAB1_uc009vzw.1_Silent_p.T486T|DAB1_uc009vzx.1_Silent_p.T504T	p.T504T	NM_021080	NP_066566	O75553	DAB1_HUMAN			15	2186	-			537					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.1512C>A																																																																																					0.448	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		7	89	1	0	8.12818e-05	0.001984	0.000110582	7	89				
HOOK1	51361	broad.mit.edu	37	1	60312847	60312847	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:60312847G>C	ENST00000371208.3	+	10	1176	c.919G>C	c.(919-921)Gat>Cat	p.D307H	HOOK1_ENST00000395561.2_Missense_Mutation_p.D265H|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	307	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.D307H(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGATGAAATAGATGTTCTTAG	0.333																																							uc009wad.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(919-921)GAT>CAT		hook homolog 1							118.0	124.0	122.0					1																	60312847		2203	4298	6501	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60312847G>C	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.919G>C	1.37:g.60312847G>C	ENSP00000360252:p.Asp307His					HOOK1_uc001czo.2_Missense_Mutation_p.D307H|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.D265H	p.D307H	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			11	1021	+	all_cancers(7;0.000129)		307			Potential.|Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.919G>C	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786157	0.90282	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.38560	1.13;1.13	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76277	-0.3018	10	0.87932	D	0	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	307	Q9UJC3	HOOK1_HUMAN	H	307;265	ENSP00000360252:D307H;ENSP00000378928:D265H	ENSP00000360252:D307H	D	+	1	0	HOOK1	60085435	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.471000	0.97696	2.866000	0.98385	0.650000	0.86243	GAT		0.333	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		14	85	0	0	0	0.00245	0	14	85				
PDE4B	5142	broad.mit.edu	37	1	66723362	66723362	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:66723362C>T	ENST00000329654.4	+	5	696	c.509C>T	c.(508-510)gCc>gTc	p.A170V	PDE4B_ENST00000423207.2_Missense_Mutation_p.A155V|PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000371049.3_Missense_Mutation_p.A170V	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	170					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A170V(1)|p.A155V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	ACTCCTTTTGCCCAGGTATGT	0.388																																							uc001dcn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(508-510)GCC>GTC		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						261.0	252.0	255.0					1																	66723362		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66723362C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.509C>T	1.37:g.66723362C>T	ENSP00000332116:p.Ala170Val					PDE4B_uc009war.2_Missense_Mutation_p.A78V|PDE4B_uc001dco.2_Missense_Mutation_p.A170V|PDE4B_uc001dcp.2_Missense_Mutation_p.A155V	p.A170V	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			5	700	+			170					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.509C>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017159	0.93404	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000412480	D;D;D;D;D	0.89746	-1.85;-1.85;-1.85;-1.86;-2.56	5.07	5.07	0.68467	.	0.047391	0.85682	D	0.000000	D	0.93307	0.7867	M	0.78916	2.43	0.80722	D	1	D;D;D	0.65815	0.995;0.991;0.991	D;P;P	0.64237	0.923;0.839;0.839	D	0.93593	0.6923	10	0.87932	D	0	.	17.9887	0.89162	0.0:1.0:0.0:0.0	.	155;160;170	Q07343-3;Q59GM8;Q07343	.;.;PDE4B_HUMAN	V	170;170;170;155;78	ENSP00000332116:A170V;ENSP00000342637:A170V;ENSP00000360088:A170V;ENSP00000392947:A155V;ENSP00000397548:A78V	ENSP00000332116:A170V	A	+	2	0	PDE4B	66495950	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.181000	0.65054	2.788000	0.95919	0.650000	0.86243	GCC		0.388	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		11	159	0	0	0	0.001368	0	11	159				
COL24A1	255631	broad.mit.edu	37	1	86591502	86591502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:86591502G>A	ENST00000370571.2	-	3	883	c.517C>T	c.(517-519)Caa>Taa	p.Q173*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.Q173*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	173	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.Q173*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAGACACTTTGGTTTCTAATA	0.353																																							uc001dlj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(517-519)CAA>TAA		collagen, type XXIV, alpha 1 precursor							57.0	52.0	53.0					1																	86591502		1844	4086	5930	SO:0001587	stop_gained	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591502G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.517C>T	1.37:g.86591502G>A	ENSP00000359603:p.Gln173*					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Nonsense_Mutation_p.Q173*	p.Q173*	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	559	-			173			TSP N-terminal.|Laminin G-like.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Nonsense_Mutation	SNP	ENST00000370571.2	37	c.517C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	7.937	0.741920	0.15642	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.82	2.57	0.30868	.	0.850231	0.09827	N	0.750729	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.421	0.32700	0.0881:0.0:0.5823:0.3296	.	.	.	.	X	173	.	ENSP00000359603:Q173X	Q	-	1	0	COL24A1	86364090	0.349000	0.24870	0.001000	0.08648	0.010000	0.07245	2.540000	0.45727	0.666000	0.31087	0.655000	0.94253	CAA		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		6	33	0	0	0	0.001984	0	6	33				
CLCA4	22802	broad.mit.edu	37	1	87041270	87041270	+	Missense_Mutation	SNP	G	G	C	rs376514119		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:87041270G>C	ENST00000370563.3	+	11	1981	c.1939G>C	c.(1939-1941)Gat>Cat	p.D647H	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	647					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.D647H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGAACTTTTGGATAATGGTGC	0.393																																							uc009wcs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1939-1941)GAT>CAT		chloride channel accessory 4							127.0	118.0	120.0					1																	87041270		1894	4124	6018	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87041270G>C	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1939G>C	1.37:g.87041270G>C	ENSP00000359594:p.Asp647His					CLCA4_uc009wct.2_Missense_Mutation_p.D410H|CLCA4_uc009wcu.2_Missense_Mutation_p.D467H	p.D647H	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	11	1983	+		Lung NSC(277;0.238)	647					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1939G>C	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313422	0.81358	.	.	ENSG00000016602	ENST00000370563	T	0.57107	0.42	5.97	5.97	0.96955	Domain of unknown function DUF1973 (1);	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80193	-0.1484	10	0.87932	D	0	-32.8204	20.0189	0.97489	0.0:0.0:1.0:0.0	.	199;647	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	H	647	ENSP00000359594:D647H	ENSP00000359594:D647H	D	+	1	0	CLCA4	86813858	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.591000	0.82666	2.834000	0.97654	0.650000	0.86243	GAT		0.393	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		6	98	0	0	0	0.00308	0	6	98				
BRDT	676	broad.mit.edu	37	1	92446675	92446675	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:92446675C>A	ENST00000362005.3	+	11	2108	c.1690C>A	c.(1690-1692)Cta>Ata	p.L564I	BRDT_ENST00000370389.2_Missense_Mutation_p.L491I|BRDT_ENST00000402388.1_Missense_Mutation_p.L564I|BRDT_ENST00000399546.2_Missense_Mutation_p.L564I|BRDT_ENST00000394530.3_Missense_Mutation_p.L518I	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	564	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.L564I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGCATCAACACTAAGAGAATT	0.358																																							uc001dok.3		NA																	1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|lung(1)	4						c.(1690-1692)CTA>ATA		testis-specific bromodomain protein							72.0	76.0	75.0					1																	92446675		2203	4299	6502	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446675C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1690C>A	1.37:g.92446675C>A	ENSP00000354568:p.Leu564Ile					BRDT_uc001dol.3_Missense_Mutation_p.L564I|BRDT_uc010osz.1_Missense_Mutation_p.L568I|BRDT_uc009wdf.2_Missense_Mutation_p.L491I|BRDT_uc010ota.1_Missense_Mutation_p.L518I|BRDT_uc010otb.1_Missense_Mutation_p.L518I|BRDT_uc001dom.3_Missense_Mutation_p.L564I	p.L564I	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	10	2039	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	564					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1690C>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832315	0.71258	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.67	2.77	0.32553	.	0.000000	0.45126	D	0.000393	T	0.42921	0.1224	M	0.78916	2.43	0.47994	D	0.999561	D;D;D;D	0.76494	0.999;0.999;0.995;0.999	D;D;P;D	0.85130	0.994;0.994;0.904;0.997	T	0.47548	-0.9109	10	0.87932	D	0	-13.2105	10.9491	0.47319	0.0:0.7583:0.0:0.2417	.	518;518;568;564	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	I	564;491;564;518;564	ENSP00000354568:L564I;ENSP00000359416:L491I;ENSP00000387822:L564I;ENSP00000378038:L518I;ENSP00000384051:L564I	ENSP00000354568:L564I	L	+	1	2	BRDT	92219263	0.356000	0.24930	0.992000	0.48379	0.991000	0.79684	0.885000	0.28227	0.415000	0.25817	0.585000	0.79938	CTA		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		3	62	1	0	0.004672	0.004672	0.00544907	3	62				
DPYD	1806	broad.mit.edu	37	1	97981407	97981407	+	Missense_Mutation	SNP	C	C	G	rs142619737	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:97981407C>G	ENST00000370192.3	-	13	1715	c.1615G>C	c.(1615-1617)Gga>Cga	p.G539R		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	539					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.G539R(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AACTTCAATCCGGCCATTTCT	0.448																																							uc001drv.2		NA																	2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(1615-1617)GGA>CGA		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						81.0	75.0	77.0					1																	97981407		2203	4299	6502	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97981407C>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1615G>C	1.37:g.97981407C>G	ENSP00000359211:p.Gly539Arg						p.G539R	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	13	1752	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	539					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1615G>C	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528805	0.64860	.	.	ENSG00000188641	ENST00000370192	D	0.81579	-1.51	5.2	4.29	0.51040	Aldolase-type TIM barrel (1);	0.052079	0.85682	D	0.000000	D	0.89870	0.6840	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.92424	0.5948	10	0.87932	D	0	-9.7772	14.1515	0.65387	0.0:0.9268:0.0:0.0732	.	539	Q12882	DPYD_HUMAN	R	539	ENSP00000359211:G539R	ENSP00000359211:G539R	G	-	1	0	DPYD	97753995	1.000000	0.71417	0.920000	0.36463	0.517000	0.34286	5.654000	0.67974	1.319000	0.45190	0.585000	0.79938	GGA		0.448	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		8	29	0	0	0	0.004482	0	8	29				
PLPPR5	163404	broad.mit.edu	37	1	99418657	99418657	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:99418657G>T	ENST00000263177.4	-	3	811	c.590C>A	c.(589-591)gCt>gAt	p.A197D	LPPR5_ENST00000370188.3_Missense_Mutation_p.A197D	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		197						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.A197D(1)									GACACTGAGAGCTGCTTCTTT	0.393																																							uc001dsb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(589-591)GCT>GAT		phosphatidic acid phosphatase type 2d isoform 1							124.0	112.0	116.0					1																	99418657		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99418657G>T																												ENST00000263177.4:c.590C>A	1.37:g.99418657G>T	ENSP00000263177:p.Ala197Asp					LPPR5_uc001dsc.2_Missense_Mutation_p.A197D	p.A197D	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			3	812	-			197			Helical; (Potential).		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.590C>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025026	0.75390	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.77750	-1.12;-1.12	5.16	3.25	0.37280	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.153311	0.64402	D	0.000019	D	0.85248	0.5653	M	0.91406	3.205	0.54753	D	0.999983	D;D	0.63880	0.975;0.993	P;D	0.66497	0.848;0.944	D	0.86870	0.2035	10	0.87932	D	0	.	10.0375	0.42137	0.0756:0.1383:0.7861:0.0	.	197;197	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	D	197	ENSP00000359207:A197D;ENSP00000263177:A197D	ENSP00000263177:A197D	A	-	2	0	AL161744.1	99191245	1.000000	0.71417	0.832000	0.32986	0.944000	0.59088	7.597000	0.82733	0.660000	0.30964	0.655000	0.94253	GCT		0.393	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			16	32	1	0	6.31663e-08	0.003163	1.05836e-07	16	32				
PLPPR4	9890	broad.mit.edu	37	1	99772549	99772549	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:99772549C>A	ENST00000370185.3	+	7	2772	c.2275C>A	c.(2275-2277)Cgg>Agg	p.R759R	LPPR4_ENST00000457765.1_Silent_p.R701R|LPPR4_ENST00000370184.1_Silent_p.R601R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		759					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.R759R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTCCCCCACACGGGCTTATAA	0.458																																							uc001dse.2		NA																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(3)	3						c.(2275-2277)CGG>AGG		plasticity related gene 1							79.0	78.0	78.0					1																	99772549		2201	4296	6497	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99772549C>A																												ENST00000370185.3:c.2275C>A	1.37:g.99772549C>A						LPPR4_uc010oue.1_Silent_p.R701R	p.R759R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2381	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	759					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.2275C>A	CCDS757.1																																																																																				0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			18	43	1	0	8.00594e-06	0.007413	1.19983e-05	18	43				
OLFM3	118427	broad.mit.edu	37	1	102290605	102290605	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:102290605A>T	ENST00000338858.5	-	4	628	c.629T>A	c.(628-630)cTt>cAt	p.L210H	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.L210H|OLFM3_ENST00000536598.1_Missense_Mutation_p.L115H|OLFM3_ENST00000370103.4_Missense_Mutation_p.L190H			Q96PB7	NOE3_HUMAN	olfactomedin 3	210					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.L210H(1)|p.L190H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCAGTCACGAAGTCTTGTTTC	0.368																																							uc001duf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(628-630)CTT>CAT		olfactomedin 3							144.0	137.0	139.0					1																	102290605		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102290605A>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.629T>A	1.37:g.102290605A>T	ENSP00000345192:p.Leu210His					OLFM3_uc001dug.2_Missense_Mutation_p.L190H|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.L115H|OLFM3_uc001due.2_RNA	p.L210H	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	700	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	210			Potential.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.629T>A		.	.	.	.	.	.	.	.	.	.	A	26.8	4.769087	0.90020	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;D;T	0.90563	-2.67;-2.69;-1.81;-0.35	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	M	0.71581	2.175	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.993	D	0.94877	0.8035	10	0.87932	D	0	.	16.2479	0.82454	1.0:0.0:0.0:0.0	.	190;210	Q5T3V6;Q96PB7	.;NOE3_HUMAN	H	61;190;210;115;210	ENSP00000359121:L190H;ENSP00000345192:L210H;ENSP00000443471:L115H;ENSP00000352867:L210H	ENSP00000345192:L210H	L	-	2	0	OLFM3	102063193	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.320000	0.96346	2.241000	0.73720	0.533000	0.62120	CTT		0.368	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			4	35	0	0	0	0.000248	0	4	35				
KCNA2	3737	broad.mit.edu	37	1	111145926	111145926	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:111145926G>C	ENST00000485317.1	-	3	2152	c.1479C>G	c.(1477-1479)acC>acG	p.T493T	KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Silent_p.T493T|KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000440270.1_Silent_p.T493T			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	493					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.T493T(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TTAACATTTTGGTAATATTCA	0.383																																					Pancreas(18;568 735 10587 23710 36357)	Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1477-1479)ACC>ACG		potassium voltage-gated channel, shaker-related							188.0	179.0	182.0					1																	111145926		2203	4300	6503	SO:0001819	synonymous_variant	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111145926G>C	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1479C>G	1.37:g.111145926G>C						KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Silent_p.T493T	p.T493T	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1975	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	493					Q86XG6	Silent	SNP	ENST00000485317.1	37	c.1479C>G	CCDS827.1																																																																																				0.383	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		13	72	0	0	0	0.001368	0	13	72				
IGSF3	3321	broad.mit.edu	37	1	117127668	117127668	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:117127668C>A	ENST00000369486.3	-	9	3212	c.2447G>T	c.(2446-2448)cGc>cTc	p.R816L	IGSF3_ENST00000369483.1_Missense_Mutation_p.R836L|IGSF3_ENST00000318837.6_Missense_Mutation_p.R836L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	816	Ig-like C2-type 7.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.R816L(1)|p.R836L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAGCCTCAGGCGGCTGTCTGG	0.562																																							uc001egr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2446-2448)CGC>CTC		immunoglobulin superfamily, member 3 isoform 2							32.0	34.0	34.0					1																	117127668		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117127668C>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2447G>T	1.37:g.117127668C>A	ENSP00000358498:p.Arg816Leu					IGSF3_uc001egq.1_Missense_Mutation_p.R836L|IGSF3_uc001egs.1_Missense_Mutation_p.R489L	p.R816L	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	9	3152	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	816			Ig-like C2-type 7.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.2447G>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897169	0.72639	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03065	4.06;4.06;4.06	4.87	4.87	0.63330	Immunoglobulin-like (1);	0.558511	0.18791	N	0.131076	T	0.04724	0.0128	L	0.50333	1.59	0.44762	D	0.997761	P;P;P	0.52463	0.942;0.853;0.953	B;P;P	0.51297	0.413;0.665;0.549	T	0.33879	-0.9851	10	0.59425	D	0.04	-30.5406	13.3945	0.60843	0.0:1.0:0.0:0.0	.	836;816;836	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	L	816;836;836	ENSP00000358498:R816L;ENSP00000358495:R836L;ENSP00000321184:R836L	ENSP00000321184:R836L	R	-	2	0	IGSF3	116929191	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.607000	0.24209	2.521000	0.84997	0.655000	0.94253	CGC		0.562	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		4	38	1	0	1.23904e-05	0.000602	1.80687e-05	4	38				
SPAG17	200162	broad.mit.edu	37	1	118574352	118574352	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:118574352A>G	ENST00000336338.5	-	25	3637	c.3572T>C	c.(3571-3573)cTt>cCt	p.L1191P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1191						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.L1191P(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTTCTTTAAGGGATTCTTT	0.378																																							uc001ehk.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(3571-3573)CTT>CCT		sperm associated antigen 17							213.0	211.0	212.0					1																	118574352		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118574352A>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3572T>C	1.37:g.118574352A>G	ENSP00000337804:p.Leu1191Pro						p.L1191P	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	25	3640	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1191					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3572T>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579188	0.28180	.	.	ENSG00000155761	ENST00000336338	T	0.30448	1.53	5.52	3.11	0.35812	.	1.830870	0.02199	N	0.062074	T	0.05502	0.0145	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.29181	-1.0020	10	0.28530	T	0.3	.	0.3174	0.00298	0.3968:0.2281:0.1554:0.2197	.	1191	Q6Q759	SPG17_HUMAN	P	1191	ENSP00000337804:L1191P	ENSP00000337804:L1191P	L	-	2	0	SPAG17	118375875	0.572000	0.26668	0.144000	0.22314	0.457000	0.32468	2.017000	0.40981	0.885000	0.36088	0.533000	0.62120	CTT		0.378	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		27	81	0	0	0	0.00632	0	27	81				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																							uc001end.3		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(295-297)GTT>TTT		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	p.V99F	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	122	1	0	0.00116845	0.001168	0.00142726	4	122				
ANKRD35	148741	broad.mit.edu	37	1	145562033	145562033	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:145562033C>A	ENST00000355594.4	+	10	1808	c.1721C>A	c.(1720-1722)gCc>gAc	p.A574D		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	574								p.A574D(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAAAGGCAGCCCCAGGGAGC	0.602																																					Melanoma(9;127 754 22988 51047)	Melanoma(9;127 754 22988 51047)	uc001eob.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1720-1722)GCC>GAC		ankyrin repeat domain 35							42.0	55.0	51.0					1																	145562033		2199	4296	6495	SO:0001583	missense	148741							g.chr1:145562033C>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1721C>A	1.37:g.145562033C>A	ENSP00000347802:p.Ala574Asp					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A417D	p.A574D	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	1829	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		574					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1721C>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	1.108	-0.658922	0.03454	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.66280	-0.2	4.42	-5.95	0.02241	.	2.117220	0.02366	N	0.077345	T	0.14527	0.0351	N	0.22421	0.69	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.08027	-1.0742	10	0.12430	T	0.62	9.0658	0.4864	0.00557	0.2112:0.1805:0.2549:0.3533	.	574	Q8N283	ANR35_HUMAN	D	483;574	ENSP00000347802:A574D	ENSP00000347802:A574D	A	+	2	0	ANKRD35	144273390	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-0.859000	0.04277	-1.235000	0.02545	-0.251000	0.11542	GCC		0.602	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		11	59	1	0	5.16669e-11	0.000978	9.4667e-11	11	59				
PIAS3	10401	broad.mit.edu	37	1	145578347	145578347	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:145578347G>T	ENST00000393045.2	+	2	400	c.310G>T	c.(310-312)Ggc>Tgc	p.G104C	PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000369299.3_Missense_Mutation_p.G95C	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	104	Pro-rich.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.G95C(1)|p.G104C(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTGGCCCCTGGCACCCTGCT	0.627																																							uc001eoc.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(310-312)GGC>TGC		protein inhibitor of activated STAT, 3							103.0	95.0	98.0					1																	145578347		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578347G>T	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.310G>T	1.37:g.145578347G>T	ENSP00000376765:p.Gly104Cys					NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.G95C|PIAS3_uc001eod.1_5'Flank	p.G104C	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			2	401	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		104			Pro-rich.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.310G>T	CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049808	0.55218	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045	T;T;T	0.47177	0.86;0.85;1.43	3.64	3.64	0.41730	.	0.331691	0.21608	N	0.071822	T	0.40619	0.1124	N	0.22421	0.69	0.47584	D	0.999462	D;D	0.67145	0.996;0.996	D;P	0.63703	0.917;0.75	T	0.43845	-0.9366	10	0.56958	D	0.05	-7.6961	12.8719	0.57970	0.0:0.0:1.0:0.0	.	95;104	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	C	95;95;104	ENSP00000376766:G95C;ENSP00000358305:G95C;ENSP00000376765:G104C	ENSP00000358305:G95C	G	+	1	0	PIAS3	144289704	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	3.908000	0.56355	1.850000	0.53721	0.561000	0.74099	GGC		0.627	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		13	90	1	0	1.61879e-10	0.001368	2.9236e-10	13	90				
GJA8	2703	broad.mit.edu	37	1	147380357	147380357	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:147380357A>T	ENST00000369235.1	+	1	275	c.275A>T	c.(274-276)tAc>tTc	p.Y92F	GJA8_ENST00000240986.4_Missense_Mutation_p.Y92F			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	92					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.Y92F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCCCTGATGTACGTGGGGCAC	0.657																																					Melanoma(76;1255 1795 8195 52096)	Melanoma(76;1255 1795 8195 52096)	uc001epu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(274-276)TAC>TTC		connexin 50							114.0	91.0	99.0					1																	147380357		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380357A>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.275A>T	1.37:g.147380357A>T	ENSP00000358238:p.Tyr92Phe						p.Y92F	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	338	+	all_hematologic(923;0.0276)		92			Helical; (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.275A>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	a	21.4	4.136566	0.77662	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99105	-5.43;-5.43	5.2	4.03	0.46877	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	L	0.48174	1.505	0.51767	D	0.999931	D	0.76494	0.999	D	0.72075	0.976	D	0.98871	1.0766	10	0.87932	D	0	.	11.0582	0.47931	0.8607:0.0:0.0:0.1393	.	92	P48165	CXA8_HUMAN	F	92	ENSP00000240986:Y92F;ENSP00000358238:Y92F	ENSP00000240986:Y92F	Y	+	2	0	GJA8	145846981	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.370000	0.79589	0.751000	0.32900	0.402000	0.26972	TAC		0.657	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		9	55	0	0	0	0.006214	0	9	55				
MRPS21	54460	broad.mit.edu	37	1	150280583	150280583	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:150280583G>T	ENST00000369084.5	+	2	632	c.185G>T	c.(184-186)cGg>cTg	p.R62L	MRPS21_ENST00000309092.7_Missense_Mutation_p.R62L	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	62					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R62L(1)		kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCGGCGGATCTACAAC	0.547																																							uc001euk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CGG>CTG		mitochondrial ribosomal protein S21							60.0	54.0	56.0					1																	150280583		2203	4300	6503	SO:0001583	missense	54460				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr1:150280583G>T	AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"""Mitochondrial ribosomal proteins / small subunits"""	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.185G>T	1.37:g.150280583G>T	ENSP00000358080:p.Arg62Leu					MRPS21_uc001eul.2_Missense_Mutation_p.R62L	p.R62L	NM_031901	NP_114107	P82921	RT21_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	267	+	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		62					Q5TB11|Q9BST6	Missense_Mutation	SNP	ENST00000369084.5	37	c.185G>T	CCDS950.1	.	.	.	.	.	.	.	.	.	.	G	34	5.391072	0.95988	.	.	ENSG00000187145	ENST00000309092;ENST00000369084	T;T	0.46819	0.86;0.86	4.94	4.94	0.65067	.	.	.	.	.	T	0.53481	0.1799	.	.	.	0.58432	D	0.999994	D	0.57899	0.981	P	0.55222	0.771	T	0.54200	-0.8329	8	0.46703	T	0.11	.	17.9518	0.89056	0.0:0.0:1.0:0.0	.	62	P82921	RT21_HUMAN	L	62	ENSP00000312395:R62L;ENSP00000358080:R62L	ENSP00000312395:R62L	R	+	2	0	MRPS21	148547207	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	8.376000	0.90138	2.572000	0.86782	0.655000	0.94253	CGG		0.547	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035813.1	NM_018997		7	30	1	0	0.00307968	0.00308	0.00367105	7	30				
CERS2	29956	broad.mit.edu	37	1	150940140	150940140	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:150940140C>G	ENST00000271688.6	-	6	905	c.519G>C	c.(517-519)caG>caC	p.Q173H	CERS2_ENST00000561294.1_Splice_Site_p.Q164H|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Splice_Site_p.Q173H|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	173	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.Q173H(1)									GAACTCATACCTGTATGGGAT	0.468																																						Ovarian(75;371 1295 4880 12077 18753)	uc001evy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(517-519)CAG>CAC		LAG1 longevity assurance 2							242.0	222.0	229.0					1																	150940140		2203	4300	6503	SO:0001630	splice_region_variant	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940140C>G	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.519+1G>C	1.37:g.150940140C>G						LASS2_uc001evz.2_Missense_Mutation_p.Q173H|LASS2_uc009wmh.2_Missense_Mutation_p.Q23H	p.Q173H	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	906	-	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		173			Lumenal (Potential).|TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.519G>C	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357317	0.61293	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000345896;ENST00000368949;ENST00000361419;ENST00000421609	D;D;D;D;D;T	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;2.14	4.54	4.54	0.55810	TRAM/LAG1/CLN8 homology domain (3);	0.122041	0.56097	D	0.000022	T	0.75939	0.3918	L	0.56280	1.765	0.58432	D	0.999999	B	0.22541	0.071	B	0.30943	0.122	T	0.73297	-0.4027	9	.	.	.	-19.9961	14.808	0.69971	0.0:1.0:0.0:0.0	.	173	Q96G23	CERS2_HUMAN	H	173;173;23;193;173;173	ENSP00000357950:Q173H;ENSP00000271688:Q173H;ENSP00000337842:Q23H;ENSP00000357945:Q193H;ENSP00000355020:Q173H;ENSP00000393239:Q173H	.	Q	-	3	2	CERS2	149206764	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.314000	0.78988	2.352000	0.79861	0.655000	0.94253	CAG		0.468	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075	Missense_Mutation	28	175	0	0	0	0.001786	0	28	175				
PIP5K1A	8394	broad.mit.edu	37	1	151206944	151206944	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:151206944T>A	ENST00000368888.4	+	8	1333	c.911T>A	c.(910-912)cTc>cAc	p.L304H	PIP5K1A_ENST00000414290.2_Missense_Mutation_p.L5H|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.L291H|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.L292H|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.L292H	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	304	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.L304H(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TACAACGCTCTCTGTAAGACC	0.408																																					Pancreas(80;36 1443 2325 16095 21302)	Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(910-912)CTC>CAC		phosphatidylinositol-4-phosphate 5-kinase, type							81.0	77.0	78.0					1																	151206944		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151206944T>A	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.911T>A	1.37:g.151206944T>A	ENSP00000357883:p.Leu304His					PIP5K1A_uc001exi.2_Missense_Mutation_p.L291H|PIP5K1A_uc010pcu.1_Missense_Mutation_p.L292H|PIP5K1A_uc001exk.2_Missense_Mutation_p.L291H|PIP5K1A_uc010pcv.1_Missense_Mutation_p.L61H	p.L304H	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	1363	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		304			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.911T>A	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613696	0.87359	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888;ENST00000414290	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.26	5.26	0.73747	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.971;0.992;0.971	D	0.84476	0.0602	10	0.87932	D	0	.	15.0674	0.72008	0.0:0.0:0.0:1.0	.	5;292;291;304;291	B4DY52;Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;.;PI51A_HUMAN;.	H	291;292;292;291;304;5	ENSP00000271663:L291H;ENSP00000386432:L292H;ENSP00000415648:L292H;ENSP00000357885:L291H;ENSP00000357883:L304H;ENSP00000388800:L5H	ENSP00000271663:L291H	L	+	2	0	PIP5K1A	149473568	0.978000	0.34361	0.958000	0.39756	0.963000	0.63663	7.827000	0.86722	2.236000	0.73375	0.473000	0.43528	CTC		0.408	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		9	68	0	0	0	0.006214	0	9	68				
POGZ	23126	broad.mit.edu	37	1	151377695	151377695	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:151377695G>C	ENST00000271715.2	-	19	4130	c.3816C>G	c.(3814-3816)gtC>gtG	p.V1272V	POGZ_ENST00000361398.3_Silent_p.V1219V|POGZ_ENST00000531094.1_Silent_p.V1210V|POGZ_ENST00000392723.1_Silent_p.V1219V|POGZ_ENST00000368863.2_Silent_p.V1177V|POGZ_ENST00000409503.1_Silent_p.V1263V|POGZ_ENST00000491586.1_Silent_p.V1228V|POGZ_ENST00000540984.1_Silent_p.V634V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1272	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1272V(1)|p.V1228V(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			GGAAGTTCTTGACAGTTCTTT	0.478																																							uc001eyd.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(3814-3816)GTC>GTG		pogo transposable element with ZNF domain							176.0	177.0	177.0					1																	151377695		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377695G>C	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3816C>G	1.37:g.151377695G>C						POGZ_uc001eye.1_Silent_p.V1219V|POGZ_uc010pdb.1_Silent_p.V1263V|POGZ_uc001eyf.1_Silent_p.V1228V|POGZ_uc010pdc.1_Silent_p.V1210V|POGZ_uc009wmv.1_Silent_p.V1177V|POGZ_uc010pdd.1_Silent_p.V763V	p.V1272V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4122	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1272			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.3816C>G	CCDS997.1																																																																																				0.478	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		17	178	0	0	0	0.00499	0	17	178				
FLG	2312	broad.mit.edu	37	1	152278945	152278945	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:152278945A>G	ENST00000368799.1	-	3	8452	c.8417T>C	c.(8416-8418)gTa>gCa	p.V2806A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2806	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.V2806A(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)			AGAGCTATCTACCGAATGCTC	0.597									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8416-8418)GTA>GCA		filaggrin							128.0	185.0	165.0					1																	152278945		2199	4279	6478	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.chr1:152278945A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8417T>C	1.37:g.152278945A>G	ENSP00000357789:p.Val2806Ala						p.V2806A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8453	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2806			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8417T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525255	0.27299	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00832	5.64	3.77	-7.54	0.01332	.	.	.	.	.	T	0.00241	0.0007	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47522	-0.9111	9	0.07030	T	0.85	2.7983	4.1906	0.10419	0.1221:0.178:0.5149:0.185	.	2806	P20930	FILA_HUMAN	A	2806;68	ENSP00000357789:V2806A	ENSP00000357786:V68A	V	-	2	0	FLG	150545569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.972000	0.00667	-1.177000	0.02744	-0.983000	0.02560	GTA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		20	318	0	0	0	0.002222	0	20	318				
FLG	2312	broad.mit.edu	37	1	152280577	152280577	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:152280577G>T	ENST00000368799.1	-	3	6820	c.6785C>A	c.(6784-6786)tCt>tAt	p.S2262Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2262	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.S2262Y(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)			TCTGGACGCAGACCCAGACCG	0.582									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6784-6786)TCT>TAT		filaggrin							184.0	185.0	184.0					1																	152280577		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.chr1:152280577G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6785C>A	1.37:g.152280577G>T	ENSP00000357789:p.Ser2262Tyr						p.S2262Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6821	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2262			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6785C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.551	0.102341	0.08731	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01871	4.59	3.14	-1.58	0.08479	.	.	.	.	.	T	0.00784	0.0026	M	0.62723	1.935	0.09310	N	1	B	0.34290	0.447	B	0.25759	0.063	T	0.44682	-0.9312	9	0.87932	D	0	.	2.1115	0.03703	0.1214:0.3571:0.3365:0.1849	.	2262	P20930	FILA_HUMAN	Y	2262;172	ENSP00000357789:S2262Y	ENSP00000271820:S172Y	S	-	2	0	FLG	150547201	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.351000	0.07711	-0.160000	0.11002	0.436000	0.28706	TCT		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		25	195	1	0	4.26978e-12	0.00333	7.96464e-12	25	195				
LCE2C	353140	broad.mit.edu	37	1	152648701	152648701	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:152648701C>A	ENST00000368783.1	+	2	265	c.210C>A	c.(208-210)ggC>ggA	p.G70G	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	70	Cys-rich.				keratinization (GO:0031424)			p.G70G(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCTGGTGGCTGCTCCCTGA	0.667																																							uc001fah.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(208-210)GGC>GGA		late cornified envelope 2C							57.0	67.0	63.0					1																	152648701		2203	4300	6503	SO:0001819	synonymous_variant	353140				keratinization			g.chr1:152648701C>A		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.210C>A	1.37:g.152648701C>A							p.G70G	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	265	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		70			Cys-rich.			Silent	SNP	ENST00000368783.1	37	c.210C>A	CCDS1019.1																																																																																				0.667	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		17	93	1	0	1.02788e-11	0.00499	1.90175e-11	17	93				
S100A7A	338324	broad.mit.edu	37	1	153390625	153390625	+	Missense_Mutation	SNP	C	C	T	rs146005479		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:153390625C>T	ENST00000368729.4	+	2	124	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	S100A7A_ENST00000368728.2_Missense_Mutation_p.R23C|S100A7A_ENST00000329256.2_Missense_Mutation_p.R23C	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	23	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> H (in dbSNP:rs55985140).			cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.R23C(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATACACCGGACGTGATGGCAA	0.458																																							uc001fbt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(67-69)CGT>TGT		S100 calcium binding protein A7-like 1		C	CYS/ARG	0,4406		0,0,2203	244.0	212.0	223.0		67	-4.9	0.0	1	dbSNP_134	223	1,8599		0,1,4299	no	missense	S100A7A	NM_176823.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	23/102	153390625	1,13005	2203	4300	6503	SO:0001583	missense	338324					cytoplasm	calcium ion binding	g.chr1:153390625C>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.67C>T	1.37:g.153390625C>T	ENSP00000357718:p.Arg23Cys						p.R23C	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	124	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		23			EF-hand 1.		D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	c.67C>T	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	.	8.236	0.805821	0.16467	0.0	1.16E-4	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.12039	2.72;2.72;2.72	2.46	-4.92	0.03075	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.03178	0.0093	M	0.64170	1.965	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.29701	-1.0003	9	0.72032	D	0.01	.	2.0249	0.03516	0.3768:0.1639:0.349:0.1103	.	23	Q86SG5	S1A7A_HUMAN	C	23	ENSP00000357718:R23C;ENSP00000357717:R23C;ENSP00000329008:R23C	ENSP00000329008:R23C	R	+	1	0	S100A7A	151657249	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.112000	0.00292	-2.883000	0.00318	-0.293000	0.09583	CGT		0.458	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		14	101	0	0	0	0.003163	0	14	101				
FCRL5	83416	broad.mit.edu	37	1	157490895	157490895	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:157490895C>A	ENST00000361835.3	-	11	2584	c.2427G>T	c.(2425-2427)ctG>ctT	p.L809L	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.L809L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	809	Ig-like C2-type 8.				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.L809L(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)				GCTCTGCAGTCAGAGAGAGGT	0.542																																							uc001fqu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2425-2427)CTG>CTT		Fc receptor-like 5							74.0	82.0	79.0					1																	157490895		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157490895C>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.2427G>T	1.37:g.157490895C>A						FCRL5_uc009wsm.2_Silent_p.L809L	p.L809L	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			11	2585	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	809			Extracellular (Potential).|Ig-like C2-type 8.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2427G>T	CCDS1165.1																																																																																				0.542	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		10	73	1	0	1.33987e-11	0.008291	2.47093e-11	10	73				
FCRL1	115350	broad.mit.edu	37	1	157772257	157772257	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:157772257C>A	ENST00000368176.3	-	4	584	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	FCRL1_ENST00000491942.1_Missense_Mutation_p.V173L|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.V173L	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	173	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V173L(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCTCCCTCACTGAAGGAATC	0.488																																					GBM(54;482 1003 11223 30131 35730)	GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)	7						c.(517-519)GTG>TTG		Fc receptor-like 1 isoform 1 precursor							116.0	96.0	103.0					1																	157772257		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772257C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.517G>T	1.37:g.157772257C>A	ENSP00000357158:p.Val173Leu					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.V173L|FCRL1_uc001fri.2_Missense_Mutation_p.V173L|FCRL1_uc001frj.2_Intron	p.V173L	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	630	-	all_hematologic(112;0.0378)		173			Ig-like C2-type 2.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.517G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	8.674	0.903469	0.17760	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.14266	2.52;2.52;2.52	5.32	2.33	0.28932	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843927	0.10465	N	0.671422	T	0.11110	0.0271	M	0.71581	2.175	0.09310	N	1	P;P;P	0.47191	0.891;0.814;0.489	P;P;B	0.49421	0.61;0.48;0.186	T	0.13791	-1.0496	10	0.45353	T	0.12	.	8.1826	0.31319	0.0:0.7266:0.0:0.2734	.	173;173;173	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	L	173	ENSP00000351039:V173L;ENSP00000357158:V173L;ENSP00000418130:V173L	ENSP00000351039:V173L	V	-	1	0	FCRL1	156038881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.485000	0.22324	0.708000	0.31955	0.655000	0.94253	GTG		0.488	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		9	55	1	0	0.000274275	0.004482	0.000355681	9	55				
CD1B	910	broad.mit.edu	37	1	158299803	158299803	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:158299803C>A	ENST00000368168.3	-	3	553	c.446G>T	c.(445-447)tGt>tTt	p.C149F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	149					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.C149F(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGAAGGCACACATGAAGCATT	0.473																																							uc001frx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(445-447)TGT>TTT		CD1B antigen precursor							158.0	156.0	157.0					1																	158299803		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299803C>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.446G>T	1.37:g.158299803C>A	ENSP00000357150:p.Cys149Phe					CD1B_uc001frw.2_Missense_Mutation_p.C42F	p.C149F	NM_001764	NP_001755	P29016	CD1B_HUMAN			3	554	-	all_hematologic(112;0.0378)		149			Extracellular (Potential).		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.446G>T	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.70|15.70	2.910101|2.910101	0.52439|0.52439	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000368168|ENST00000451207	T|.	0.06218|.	3.33|.	4.46|4.46	3.53|3.53	0.40419|0.40419	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.132049|.	0.35525|.	N|.	0.003145|.	T|T	0.48696|0.48696	0.1514|0.1514	M|M	0.84948|0.84948	2.725|2.725	0.09310|0.09310	N|N	1|1	B;P|.	0.35363|.	0.191;0.497|.	B;B|.	0.32762|.	0.03;0.152|.	T|T	0.44267|0.44267	-0.9339|-0.9339	10|5	0.66056|.	D|.	0.02|.	-20.7785|-20.7785	10.4957|10.4957	0.44777|0.44777	0.0:0.8029:0.1971:0.0|0.0:0.8029:0.1971:0.0	.|.	149;149|.	P29016;P29016-2|.	CD1B_HUMAN;.|.	F|I	149|116	ENSP00000357150:C149F|.	ENSP00000357150:C149F|.	C|M	-|-	2|3	0|0	CD1B|CD1B	156566427|156566427	0.146000|0.146000	0.22672|0.22672	0.010000|0.010000	0.14722|0.14722	0.454000|0.454000	0.32378|0.32378	1.660000|1.660000	0.37397|0.37397	1.204000|1.204000	0.43247|0.43247	0.655000|0.655000	0.94253|0.94253	TGT|ATG		0.473	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		28	119	1	0	2.4375e-19	0.007291	4.79065e-19	28	119				
OR6Y1	391112	broad.mit.edu	37	1	158517516	158517516	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:158517516C>A	ENST00000302617.3	-	1	379	c.380G>T	c.(379-381)cGc>cTc	p.R127L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R127L(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCTACATAGCGGTCAAAGGC	0.468																																							uc010pil.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)CGC>CTC		olfactory receptor, family 6, subfamily Y,							110.0	94.0	100.0					1																	158517516		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517516C>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.380G>T	1.37:g.158517516C>A	ENSP00000304807:p.Arg127Leu						p.R127L	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	380	-	all_hematologic(112;0.0378)		127			Cytoplasmic (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.380G>T	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186450	0.78789	.	.	ENSG00000197532	ENST00000302617	T	0.77358	-1.09	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	D	0.000630	D	0.91556	0.7333	H	0.96777	3.88	0.52099	D	0.999945	D	0.89917	1.0	D	0.87578	0.998	D	0.93727	0.7038	10	0.72032	D	0.01	.	17.3869	0.87418	0.0:1.0:0.0:0.0	.	127	Q8NGX8	OR6Y1_HUMAN	L	127	ENSP00000304807:R127L	ENSP00000304807:R127L	R	-	2	0	OR6Y1	156784140	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	5.781000	0.68964	2.695000	0.91970	0.563000	0.77884	CGC		0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		5	40	1	0	1.06961e-07	0.00308	1.76868e-07	5	40				
OR10Z1	128368	broad.mit.edu	37	1	158577045	158577045	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:158577045C>G	ENST00000361284.1	+	1	817	c.817C>G	c.(817-819)Ctt>Gtt	p.L273V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L273V(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGAGATCAGCTTATTGCCAT	0.468																																							uc010pio.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(817-819)CTT>GTT		olfactory receptor, family 10, subfamily Z,							240.0	241.0	241.0					1																	158577045		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577045C>G	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.817C>G	1.37:g.158577045C>G	ENSP00000354707:p.Leu273Val						p.L273V	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	817	+	all_hematologic(112;0.0378)		273			Helical; Name=7; (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.817C>G	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809129	0.31961	.	.	ENSG00000198967	ENST00000361284	T	0.00020	9.05	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34507	N	0.003920	T	0.00039	0.0001	L	0.33339	1.005	0.34774	D	0.734042	B	0.18741	0.03	B	0.28139	0.086	T	0.59010	-0.7534	10	0.25106	T	0.35	.	17.0243	0.86441	0.0:1.0:0.0:0.0	.	273	Q8NGY1	O10Z1_HUMAN	V	273	ENSP00000354707:L273V	ENSP00000354707:L273V	L	+	1	0	OR10Z1	156843669	0.000000	0.05858	1.000000	0.80357	0.495000	0.33615	-0.120000	0.10660	2.528000	0.85240	0.650000	0.86243	CTT		0.468	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		30	209	0	0	0	0.002836	0	30	209				
FCER1A	2205	broad.mit.edu	37	1	159272653	159272653	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:159272653G>T	ENST00000368115.1	+	3	164	c.65G>T	c.(64-66)gGc>gTc	p.G22V	FCER1A_ENST00000368114.1_Missense_Mutation_p.G22V	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	22					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.G22V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GCTCCAGATGGCGTGTTAGCA	0.468																																							uc001ftq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(64-66)GGC>GTC		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						376.0	342.0	354.0					1																	159272653		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159272653G>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.65G>T	1.37:g.159272653G>T	ENSP00000357097:p.Gly22Val						p.G22V	NM_002001	NP_001992	P12319	FCERA_HUMAN			3	164	+	all_hematologic(112;0.0429)		22						Missense_Mutation	SNP	ENST00000368115.1	37	c.65G>T	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.420277	0.00188	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02032	4.85;4.49	4.05	0.984	0.19773	.	17.511000	0.00166	N	0.000000	T	0.01189	0.0039	L	0.38531	1.155	0.09310	N	1	P	0.50943	0.94	P	0.47134	0.539	T	0.41502	-0.9505	10	0.49607	T	0.09	.	4.4926	0.11820	0.1077:0.0:0.4963:0.3959	.	22	P12319	FCERA_HUMAN	V	22	ENSP00000357097:G22V;ENSP00000357096:G22V	ENSP00000357096:G22V	G	+	2	0	FCER1A	157539277	0.001000	0.12720	0.002000	0.10522	0.124000	0.20399	0.321000	0.19558	0.218000	0.20820	0.655000	0.94253	GGC		0.468	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		17	126	1	0	1.01871e-10	0.008871	1.85161e-10	17	126				
NHLH1	4807	broad.mit.edu	37	1	160340859	160340859	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:160340859A>G	ENST00000302101.5	+	2	784	c.338A>G	c.(337-339)aAg>aGg	p.K113R		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	113	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.K113R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGCTCTCCAAGATTGAGATT	0.622																																							uc001fwa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)AAG>AGG		nescient helix loop helix 1							70.0	73.0	72.0					1																	160340859		2203	4300	6503	SO:0001583	missense	4807				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:160340859A>G	BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"""Basic helix-loop-helix proteins"""	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.338A>G	1.37:g.160340859A>G	ENSP00000302189:p.Lys113Arg						p.K113R	NM_005598	NP_005589	Q02575	HEN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	780	+	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		113			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000302101.5	37	c.338A>G	CCDS1204.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660799	0.88154	.	.	ENSG00000171786	ENST00000302101	D	0.99557	-6.16	3.98	3.98	0.46160	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000020	D	0.99456	0.9807	M	0.80982	2.52	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.98525	1.0625	10	0.52906	T	0.07	-29.4333	12.1444	0.54016	1.0:0.0:0.0:0.0	.	113	Q02575	HEN1_HUMAN	R	113	ENSP00000302189:K113R	ENSP00000302189:K113R	K	+	2	0	NHLH1	158607483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.013000	0.93629	1.798000	0.52647	0.533000	0.62120	AAG		0.622	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		11	49	0	0	0	0.001368	0	11	49				
FCER1G	2207	broad.mit.edu	37	1	161188691	161188691	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:161188691G>A	ENST00000289902.1	+	5	244	c.219G>A	c.(217-219)caG>caA	p.Q73Q	FCER1G_ENST00000490414.1_3'UTR|AL590714.1_ENST00000594609.1_5'Flank|FCER1G_ENST00000367992.3_Intron	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	73	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.Q73Q(1)		endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	CCAGGAACCAGGAGACTTACG	0.562																																							uc001fyz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(217-219)CAG>CAA		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)						108.0	108.0	108.0					1																	161188691		2203	4300	6503	SO:0001819	synonymous_variant	2207				platelet activation	integral to plasma membrane		g.chr1:161188691G>A		CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.219G>A	1.37:g.161188691G>A						FCER1G_uc001fza.1_Silent_p.Q74Q	p.Q73Q	NM_004106	NP_004097	P30273	FCERG_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	244	+	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		73			ITAM.|Cytoplasmic (Potential).		Q5VTW4	Silent	SNP	ENST00000289902.1	37	c.219G>A	CCDS1225.1																																																																																				0.562	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083012.1	NM_004106		6	57	0	0	0	0.001168	0	6	57				
FCGR2A	2212	broad.mit.edu	37	1	161487915	161487915	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:161487915G>C	ENST00000271450.6	+	7	969	c.931G>C	c.(931-933)Gac>Cac	p.D311H	FCGR2A_ENST00000367972.4_Missense_Mutation_p.D310H|FCGR2A_ENST00000486608.1_3'UTR|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	311					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D310H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	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)	TCCTCCCAACGACCATGTCAA	0.443																																							uc001gan.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)GAC>CAC		Fc fragment of IgG, low affinity IIa, 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)						76.0	76.0	76.0					1																	161487915		2203	4297	6500	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487915G>C	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.931G>C	1.37:g.161487915G>C	ENSP00000271450:p.Asp311His					FCGR2A_uc001gam.2_Missense_Mutation_p.D310H|FCGR2A_uc001gao.2_RNA	p.D311H	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	984	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		311			Cytoplasmic (Potential).		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.931G>C	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	8.433	0.849003	0.17034	.	.	ENSG00000143226	ENST00000367972;ENST00000271450;ENST00000537821;ENST00000461298	T;T	0.02656	4.21;4.21	0.565	-0.428	0.12306	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.23906	N	0.996502	P;P	0.46859	0.817;0.885	B;B	0.34931	0.094;0.192	T	0.51004	-0.8760	7	0.87932	D	0	.	.	.	.	.	311;310	P12318;P12318-2	FCG2A_HUMAN;.	H	310;311;46;46	ENSP00000356949:D310H;ENSP00000271450:D311H	ENSP00000271450:D311H	D	+	1	0	FCGR2A	159754539	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.568000	0.02144	-0.249000	0.09569	-0.244000	0.11960	GAC		0.443	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		5	52	0	0	0	0.001168	0	5	52				
DDR2	4921	broad.mit.edu	37	1	162745481	162745481	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:162745481C>A	ENST00000367922.3	+	16	2334	c.1896C>A	c.(1894-1896)ctC>ctA	p.L632L	DDR2_ENST00000367921.3_Silent_p.L632L|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	632	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L632L(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TGTCTCGGCTCAAGGACCCAA	0.408																																					NSCLC(161;314 2006 8283 19651 23192)	NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(1894-1896)CTC>CTA		discoidin domain receptor family, member 2							147.0	139.0	142.0					1																	162745481		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162745481C>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1896C>A	1.37:g.162745481C>A						DDR2_uc001gcg.2_Silent_p.L632L	p.L632L	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		16	2361	+	all_hematologic(112;0.115)		632			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Silent	SNP	ENST00000367922.3	37	c.1896C>A	CCDS1241.1																																																																																				0.408	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		14	93	1	0	1.05317e-09	0.00245	1.86355e-09	14	93				
SELP	6403	broad.mit.edu	37	1	169565348	169565348	+	Missense_Mutation	SNP	C	C	T	rs575279804		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:169565348C>T	ENST00000263686.6	-	12	1953	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E	SELP_ENST00000367794.2_Missense_Mutation_p.G577E|SELP_ENST00000367786.2_Missense_Mutation_p.G577E|SELP_ENST00000367791.2_Missense_Mutation_p.G453E|SELP_ENST00000367792.2_Missense_Mutation_p.G455E|SELP_ENST00000367788.2_Missense_Mutation_p.G577E|SELP_ENST00000458599.2_Missense_Mutation_p.G455E|SELP_ENST00000367793.2_Missense_Mutation_p.G577E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	639					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.G639E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ACATTGCACCCCTGGAGTAGG	0.468																																							uc001ggi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1915-1917)GGG>GAG		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						187.0	189.0	188.0					1																	169565348		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169565348C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1916G>A	1.37:g.169565348C>T	ENSP00000263686:p.Gly639Glu					SELP_uc001ggh.2_Missense_Mutation_p.G474E|SELP_uc009wvr.2_Missense_Mutation_p.G639E	p.G639E	NM_003005	NP_002996	P16109	LYAM3_HUMAN			12	1981	-	all_hematologic(923;0.208)		639			Extracellular (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1916G>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.357313	0.01245	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.26223	2.22;2.02;1.75;1.75;1.97;2.02;1.75	4.22	-4.62	0.03370	Complement control module (1);	1.478620	0.04232	N	0.335473	T	0.01353	0.0044	N	0.02181	-0.65	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.22800	-1.0206	10	0.02654	T	1	0.3829	0.4133	0.00444	0.2218:0.2074:0.3045:0.2662	.	639;639;639	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	E	453;639;638;455;639;639;577;577;455;453;577;577;562	ENSP00000263686:G639E;ENSP00000356767:G577E;ENSP00000356768:G577E;ENSP00000356766:G455E;ENSP00000356765:G453E;ENSP00000356762:G577E;ENSP00000356760:G577E	ENSP00000263686:G639E	G	-	2	0	SELP	167831972	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.543000	0.06084	-0.471000	0.06891	-0.440000	0.05779	GGG		0.468	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		15	145	0	0	0	0.003163	0	15	145				
SELP	6403	broad.mit.edu	37	1	169581475	169581475	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:169581475G>T	ENST00000263686.6	-	6	978	c.941C>A	c.(940-942)gCc>gAc	p.A314D	SELP_ENST00000367794.2_Missense_Mutation_p.A314D|SELP_ENST00000367786.2_Missense_Mutation_p.A314D|SELP_ENST00000367791.2_Missense_Mutation_p.A314D|SELP_ENST00000367792.2_Missense_Mutation_p.A314D|SELP_ENST00000367788.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.A314D|SELP_ENST00000367793.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	314	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.A314D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TGGGGCTGGGGCTGTCCATAC	0.493																																							uc001ggi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(940-942)GCC>GAC		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						132.0	105.0	114.0					1																	169581475		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169581475G>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.941C>A	1.37:g.169581475G>T	ENSP00000263686:p.Ala314Asp					SELP_uc001ggh.2_Missense_Mutation_p.A149D|SELP_uc009wvr.2_Missense_Mutation_p.A314D	p.A314D	NM_003005	NP_002996	P16109	LYAM3_HUMAN			6	1006	-	all_hematologic(923;0.208)		314			Extracellular (Potential).|Sushi 2.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.941C>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.398|0.398	-0.919738|-0.919738	0.02396|0.02396	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T|.	0.64803|.	-0.12;-0.12;-0.12;-0.12;-0.12|.	4.97|4.97	4.04|4.04	0.47022|0.47022	Complement control module (2);Sushi/SCR/CCP (3);|.	0.165285|.	0.28677|.	N|.	0.014519|.	T|T	0.22975|0.22975	0.0555|0.0555	L|L	0.49256|0.49256	1.55|1.55	0.09310|0.09310	N|N	1|1	D;D;P|.	0.63046|.	0.992;0.974;0.894|.	P;P;P|.	0.60541|.	0.876;0.791;0.57|.	T|T	0.17349|0.17349	-1.0372|-1.0372	10|5	0.20519|.	T|.	0.43|.	.|.	7.0348|7.0348	0.24987|0.24987	0.0968:0.2929:0.6103:0.0|0.0968:0.2929:0.6103:0.0	.|.	314;314;314|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	D|R	314;314;313;314;314;314;314;314;314;314;299|313	ENSP00000263686:A314D;ENSP00000356768:A314D;ENSP00000356766:A314D;ENSP00000356765:A314D;ENSP00000356760:A314D|.	ENSP00000263686:A314D|.	A|S	-|-	2|3	0|2	SELP|SELP	167848099|167848099	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.621000|0.621000	0.37620|0.37620	-0.083000|-0.083000	0.11286|0.11286	1.057000|1.057000	0.40506|0.40506	0.650000|0.650000	0.86243|0.86243	GCC|AGC		0.493	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		9	49	1	0	6.40141e-05	0.000978	8.8683e-05	9	49				
SELP	6403	broad.mit.edu	37	1	169586396	169586396	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:169586396C>A	ENST00000263686.6	-	3	388	c.351G>T	c.(349-351)tgG>tgT	p.W117C	SELP_ENST00000367794.2_Missense_Mutation_p.W117C|SELP_ENST00000367786.2_Missense_Mutation_p.W117C|SELP_ENST00000367791.2_Missense_Mutation_p.W117C|SELP_ENST00000367792.2_Missense_Mutation_p.W117C|SELP_ENST00000367788.2_Missense_Mutation_p.W117C|SELP_ENST00000458599.2_Missense_Mutation_p.W117C|SELP_ENST00000367793.2_Missense_Mutation_p.W117C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	117	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.W117C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CATTATCAGCCCAGTTCTCAG	0.488																																							uc001ggi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(349-351)TGG>TGT		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						305.0	272.0	283.0					1																	169586396		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586396C>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.351G>T	1.37:g.169586396C>A	ENSP00000263686:p.Trp117Cys					SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.W117C	p.W117C	NM_003005	NP_002996	P16109	LYAM3_HUMAN			3	416	-	all_hematologic(923;0.208)		117			Extracellular (Potential).|C-type lectin.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.351G>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.48|16.48	3.133765|3.133765	0.56828|0.56828	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.24908	.|1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.79|5.79	5.79|5.79	0.91817|0.91817	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.000000	.|0.51477	.|D	.|0.000091	T|T	0.68109|0.68109	0.2965|0.2965	H|H	0.99573|0.99573	4.635|4.635	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.82703|0.82703	-0.0326|-0.0326	5|10	.|0.87932	.|D	.|0	-22.8339|-22.8339	17.5306|17.5306	0.87813|0.87813	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|117;117	.|Q6NUL9;P16109	.|.;LYAM3_HUMAN	C|C	117|117;117;116;117;117;117;117;117;117;117;117;117;102	.|ENSP00000263686:W117C;ENSP00000356767:W117C;ENSP00000356768:W117C;ENSP00000356766:W117C;ENSP00000356765:W117C;ENSP00000356762:W117C;ENSP00000356760:W117C	.|ENSP00000263686:W117C	G|W	-|-	1|3	0|0	SELP|SELP	167853020|167853020	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.247000|0.247000	0.25773|0.25773	7.487000|7.487000	0.81328|0.81328	2.735000|2.735000	0.93741|0.93741	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		14	142	1	0	3.27435e-08	0.00245	5.51879e-08	14	142				
RC3H1	149041	broad.mit.edu	37	1	173947753	173947753	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:173947753C>A	ENST00000367696.2	-	7	1326	c.975G>T	c.(973-975)caG>caT	p.Q325H	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q325H|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q325H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	325					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q325H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGGCTGGAGTCTGCAACTTAA	0.363																																							uc001gju.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(973-975)CAG>CAT		roquin							58.0	60.0	59.0					1																	173947753		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173947753C>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.975G>T	1.37:g.173947753C>A	ENSP00000356669:p.Gln325His					RC3H1_uc010pms.1_Missense_Mutation_p.Q325H|RC3H1_uc001gjv.2_Missense_Mutation_p.Q325H|RC3H1_uc010pmt.1_Missense_Mutation_p.Q325H	p.Q325H	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			6	1062	-			325					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.975G>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859898	0.91433	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.95069	-3.6;-3.6;-3.6	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.999;1.0	D;D;D;D	0.87578	0.993;0.993;0.997;0.998	D	0.97515	1.0069	10	0.87932	D	0	-9.9137	19.6814	0.95965	0.0:1.0:0.0:0.0	.	325;325;325;325	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	325	ENSP00000356669:Q325H;ENSP00000258349:Q325H;ENSP00000356667:Q325H	ENSP00000258349:Q325H	Q	-	3	2	RC3H1	172214376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.088000	0.71371	2.642000	0.89623	0.558000	0.71614	CAG		0.363	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		5	28	1	0	1.23904e-05	0.000602	1.80687e-05	5	28				
TNN	63923	broad.mit.edu	37	1	175049508	175049508	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:175049508C>A	ENST00000239462.4	+	4	1107	c.994C>A	c.(994-996)Cgt>Agt	p.R332S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	332	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R332S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGTCACCCTGCGTAACGTCAA	0.552																																							uc001gkl.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(994-996)CGT>AGT		tenascin N precursor							125.0	120.0	122.0					1																	175049508		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049508C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.994C>A	1.37:g.175049508C>A	ENSP00000239462:p.Arg332Ser					TNN_uc010pmx.1_Missense_Mutation_p.R332S	p.R332S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	1107	+		Breast(1374;0.000962)	332			Fibronectin type-III 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.994C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311519	0.40895	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58210	0.35	5.7	4.76	0.60689	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.448168	0.27604	N	0.018629	T	0.50017	0.1591	L	0.33339	1.005	0.27256	N	0.958759	P;P	0.48998	0.638;0.918	B;P	0.54706	0.421;0.759	T	0.39901	-0.9591	10	0.33141	T	0.24	.	6.632	0.22861	0.1525:0.7052:0.0:0.1423	.	332;332	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	332	ENSP00000239462:R332S	ENSP00000239462:R332S	R	+	1	0	TNN	173316131	0.997000	0.39634	0.999000	0.59377	0.829000	0.46940	0.802000	0.27069	1.350000	0.45770	0.655000	0.94253	CGT		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		8	44	1	0	5.18039e-06	0.00308	7.8153e-06	8	44				
ASTN1	460	broad.mit.edu	37	1	177030247	177030247	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:177030247T>C	ENST00000367654.3	-	2	649	c.438A>G	c.(436-438)gaA>gaG	p.E146E	ASTN1_ENST00000367657.3_Silent_p.E146E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.E146E|ASTN1_ENST00000361833.2_Silent_p.E146E	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	146					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.E146E(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						TCAGCTCCTCTTCTGCCGACT	0.498																																							uc001glc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(436-438)GAA>GAG		astrotactin isoform 1							227.0	209.0	215.0					1																	177030247		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030247T>C	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.438A>G	1.37:g.177030247T>C						ASTN1_uc001glb.1_Silent_p.E146E|ASTN1_uc001gld.1_Silent_p.E146E|ASTN1_uc009wwx.1_Silent_p.E146E	p.E146E	NM_004319	NP_004310	O14525	ASTN1_HUMAN			2	650	-			146					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.438A>G																																																																																					0.498	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		18	78	0	0	0	0.007413	0	18	78				
BRINP2	57795	broad.mit.edu	37	1	177249846	177249846	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:177249846C>G	ENST00000361539.4	+	8	1846	c.1534C>G	c.(1534-1536)Ctg>Gtg	p.L512V	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	512					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.L512V(1)									CTTGCAGGACCTGGAGCTAAA	0.587																																							uc001glf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1534-1536)CTG>GTG		family with sequence similarity 5, member B							34.0	35.0	35.0					1																	177249846		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177249846C>G		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1534C>G	1.37:g.177249846C>G	ENSP00000354481:p.Leu512Val					FAM5B_uc001glg.2_Missense_Mutation_p.L407V	p.L512V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	1846	+			512					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1534C>G	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	8.438	0.850146	0.17034	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.52983	0.64	5.26	5.26	0.73747	.	0.185034	0.41938	D	0.000798	T	0.42086	0.1187	M	0.63428	1.95	0.39374	D	0.966142	B;B	0.34103	0.292;0.437	B;B	0.31245	0.126;0.079	T	0.49457	-0.8938	10	0.56958	D	0.05	-10.5956	8.022	0.30415	0.1598:0.759:0.0:0.0812	.	407;512	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	V	265;512	ENSP00000354481:L512V	ENSP00000354481:L512V	L	+	1	2	FAM5B	175516469	0.784000	0.28713	1.000000	0.80357	0.791000	0.44710	-0.026000	0.12392	2.457000	0.83068	0.313000	0.20887	CTG		0.587	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		5	36	0	0	0	0.000602	0	5	36				
ABL2	27	broad.mit.edu	37	1	179077507	179077507	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:179077507C>A	ENST00000502732.1	-	12	3098	c.2895G>T	c.(2893-2895)caG>caT	p.Q965H	ABL2_ENST00000511413.1_Missense_Mutation_p.Q862H|ABL2_ENST00000344730.3_Missense_Mutation_p.Q847H|ABL2_ENST00000512653.1_Missense_Mutation_p.Q950H|ABL2_ENST00000367623.4_Missense_Mutation_p.Q944H|ABL2_ENST00000504405.1_Missense_Mutation_p.Q826H|ABL2_ENST00000507173.1_Missense_Mutation_p.Q841H|ABL2_ENST00000408940.3_Missense_Mutation_p.Q929H	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	965	Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.Q929H(1)|p.Q965H(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGGATGTGACCTGATGCTCAG	0.532			T	ETV6	AML																																		uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		2	Substitution - Missense(2)		lung(2)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(2893-2895)CAG>CAT		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						113.0	106.0	108.0					1																	179077507		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077507C>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2895G>T	1.37:g.179077507C>A	ENSP00000427562:p.Gln965His					ABL2_uc010pnf.1_Missense_Mutation_p.Q862H|ABL2_uc010png.1_Missense_Mutation_p.Q841H|ABL2_uc010pnh.1_Missense_Mutation_p.Q944H|ABL2_uc001gmg.3_Missense_Mutation_p.Q847H|ABL2_uc001gmi.3_Missense_Mutation_p.Q950H|ABL2_uc001gmh.3_Missense_Mutation_p.Q929H|ABL2_uc010pne.1_Missense_Mutation_p.Q826H	p.Q965H	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	3182	-			965			Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.2895G>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364392	0.41902	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.4	4.49	0.54785	.	0.000000	0.49916	D	0.000137	T	0.43456	0.1248	L	0.47716	1.5	0.33545	D	0.595423	D;D;B;D;D;D;D;D	0.69078	0.996;0.997;0.004;0.988;0.993;0.996;0.993;0.995	D;D;B;D;P;D;P;D	0.77004	0.94;0.916;0.006;0.984;0.862;0.935;0.753;0.989	T	0.53865	-0.8378	10	0.31617	T	0.26	.	8.9777	0.35946	0.0:0.7732:0.1487:0.0781	.	944;841;862;826;965;950;929;847	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	H	965;929;847;950;826;944;841;862	ENSP00000427562:Q965H;ENSP00000386152:Q929H;ENSP00000339209:Q847H;ENSP00000423578:Q950H;ENSP00000426831:Q826H;ENSP00000356595:Q944H;ENSP00000423413:Q841H;ENSP00000424697:Q862H	ENSP00000339209:Q847H	Q	-	3	2	ABL2	177344130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.876000	0.48498	1.405000	0.46838	0.655000	0.94253	CAG		0.532	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		12	51	1	0	7.03913e-09	0.001368	1.21342e-08	12	51				
BRINP3	339479	broad.mit.edu	37	1	190234075	190234075	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:190234075G>C	ENST00000367462.3	-	4	769	c.538C>G	c.(538-540)Cta>Gta	p.L180V	BRINP3_ENST00000534846.1_Missense_Mutation_p.L78V|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	180	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.L180V(1)									GAAGCGGCTAGCTGATGTAGC	0.463																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(538-540)CTA>GTA		family with sequence similarity 5, member C							134.0	121.0	125.0					1																	190234075		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190234075G>C	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.538C>G	1.37:g.190234075G>C	ENSP00000356432:p.Leu180Val					FAM5C_uc010pot.1_Missense_Mutation_p.L78V	p.L180V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			4	770	-	Prostate(682;0.198)		180					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.538C>G	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731307	0.48939	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.33865	1.65;1.39	5.75	4.83	0.62350	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.64402	D	0.000001	T	0.58380	0.2118	M	0.76328	2.33	0.49213	D	0.999761	D;D	0.69078	0.996;0.997	D;D	0.76071	0.978;0.987	T	0.62737	-0.6791	10	0.87932	D	0	.	11.7198	0.51675	0.087:0.0:0.913:0.0	.	78;180	B7Z260;Q76B58	.;FAM5C_HUMAN	V	180;78	ENSP00000356432:L180V;ENSP00000438022:L78V	ENSP00000356432:L180V	L	-	1	2	FAM5C	188500698	1.000000	0.71417	0.171000	0.22900	0.198000	0.23893	5.265000	0.65519	1.407000	0.46875	0.585000	0.79938	CTA		0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		7	46	0	0	0	0.00308	0	7	46				
KCNT2	343450	broad.mit.edu	37	1	196395110	196395110	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:196395110A>T	ENST00000294725.9	-	11	1908	c.993T>A	c.(991-993)taT>taA	p.Y331*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.Y331*|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.Y331*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.Y331*|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	331					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.Y331*(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						AAATCACCACATAATAATCCT	0.338																																							uc001gtd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(991-993)TAT>TAA		potassium channel, subfamily T, member 2							81.0	75.0	77.0					1																	196395110		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.chr1:196395110A>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.993T>A	1.37:g.196395110A>T	ENSP00000294725:p.Tyr331*					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.Y331*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.Y331*|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Nonsense_Mutation_p.Y331*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.Y306*	p.Y331*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			11	1053	-			331			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	c.993T>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	38	6.818602	0.97861	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	.	.	.	5.41	0.0955	0.14485	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7867	9.7549	0.40498	0.7297:0.0:0.2703:0.0	.	.	.	.	X	331;331;152;331	.	ENSP00000294725:Y331X	Y	-	3	2	KCNT2	194661733	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.714000	0.37961	-0.152000	0.11156	0.454000	0.30748	TAT		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		4	35	0	0	0	0.000248	0	4	35				
ASPM	259266	broad.mit.edu	37	1	197073483	197073483	+	Missense_Mutation	SNP	C	C	G	rs181624297		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:197073483C>G	ENST00000367409.4	-	18	5154	c.4898G>C	c.(4897-4899)cGc>cCc	p.R1633P	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1633	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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.R1633P(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						GACAGCAGAGCGTGTTTTCTG	0.363																																							uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(4897-4899)CGC>CCC		asp (abnormal spindle)-like, microcephaly							96.0	97.0	96.0					1																	197073483		2200	4298	6498	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073483C>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.4898G>C	1.37:g.197073483C>G	ENSP00000356379:p.Arg1633Pro					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.R1633P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	5155	-			1633			IQ 4.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4898G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243727	0.58995	.	.	ENSG00000066279	ENST00000367409	T	0.30182	1.54	5.1	5.1	0.69264	.	0.073902	0.53938	D	0.000042	T	0.67230	0.2871	M	0.93978	3.48	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	T	0.76135	-0.3070	10	0.72032	D	0.01	.	18.3748	0.90432	0.0:1.0:0.0:0.0	.	1633	Q8IZT6	ASPM_HUMAN	P	1633	ENSP00000356379:R1633P	ENSP00000356379:R1633P	R	-	2	0	ASPM	195340106	0.069000	0.21087	0.223000	0.23860	0.857000	0.48899	1.546000	0.36179	2.767000	0.95098	0.585000	0.79938	CGC		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	73	0	0	0	0.008291	0	10	73				
PTPRC	5788	broad.mit.edu	37	1	198682150	198682150	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:198682150C>A	ENST00000367376.2	+	12	1405	c.1234C>A	c.(1234-1236)Ccc>Acc	p.P412T	PTPRC_ENST00000594404.1_Missense_Mutation_p.P251T|PTPRC_ENST00000442510.2_Missense_Mutation_p.P414T|PTPRC_ENST00000348564.6_Missense_Mutation_p.P253T|PTPRC_ENST00000352140.3_Missense_Mutation_p.P364T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	412	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P412T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TACCTGGAATCCCCCTCAAAG	0.318																																							uc001gur.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(1234-1236)CCC>ACC		protein tyrosine phosphatase, receptor type, C							107.0	118.0	114.0					1																	198682150		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198682150C>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1234C>A	1.37:g.198682150C>A	ENSP00000356346:p.Pro412Thr					PTPRC_uc001gus.1_Missense_Mutation_p.P364T|PTPRC_uc001gut.1_Missense_Mutation_p.P251T|PTPRC_uc009wzf.1_Missense_Mutation_p.P300T|PTPRC_uc010ppg.1_Missense_Mutation_p.P348T	p.P412T	NM_002838	NP_002829	P08575	PTPRC_HUMAN			12	1414	+			412			Extracellular (Potential).|Fibronectin type-III 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1234C>A		.	.	.	.	.	.	.	.	.	.	C	7.448	0.642125	0.14451	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.61392	0.11	3.58	-2.05	0.07321	Fibronectin, type III (4);Immunoglobulin-like fold (1);	2.404500	0.01829	N	0.034545	T	0.52901	0.1763	L	0.42245	1.32	0.09310	N	1	P;P;B;P;P	0.45078	0.82;0.85;0.259;0.459;0.601	B;P;B;B;B	0.49140	0.366;0.601;0.143;0.291;0.291	T	0.37337	-0.9710	10	0.30854	T	0.27	.	1.4401	0.02352	0.1576:0.3208:0.3314:0.1902	.	348;348;253;364;412	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	T	414;348;364;364;298;412;346;251	ENSP00000193532:P364T	ENSP00000306782:P251T	P	+	1	0	PTPRC	196948773	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.295000	0.02764	-0.410000	0.07542	0.585000	0.79938	CCC		0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				8	82	1	0	5.4927e-09	0.004482	9.52628e-09	8	82				
ADORA1	134	broad.mit.edu	37	1	203134389	203134389	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:203134389G>T	ENST00000367236.4	+	3	1263	c.342G>T	c.(340-342)cgG>cgT	p.R114R	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Splice_Site_p.R114R|ADORA1_ENST00000309502.3_Splice_Site_p.R114R|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	114					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.R114R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TCTCCCCCAGGTACAAGATGG	0.652																																							uc001gze.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(340-342)CGG>CGT		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						32.0	38.0	36.0					1																	203134389		2203	4300	6503	SO:0001630	splice_region_variant	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134389G>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.342-1G>T	1.37:g.203134389G>T						FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Silent_p.R114R|ADORA1_uc010pqg.1_Missense_Mutation_p.R46S|ADORA1_uc009xak.1_Missense_Mutation_p.V40L|ADORA1_uc010pqh.1_Silent_p.R147R	p.R114R	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	775	+			114			Cytoplasmic (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	ENST00000367236.4	37	c.342G>T	CCDS1434.1																																																																																				0.652	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674	Silent	7	23	1	0	1.06961e-07	0.00308	1.76868e-07	7	23				
MYBPH	4608	broad.mit.edu	37	1	203144711	203144711	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:203144711G>T	ENST00000255416.4	-	1	230	c.173C>A	c.(172-174)tCc>tAc	p.S58Y		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	58					cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.S58Y(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)		AGTGGCTGTGGAGGCTGTAGG	0.657																																					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.(172-174)TCC>TAC		myosin binding protein H							63.0	79.0	73.0					1																	203144711		2200	4293	6493	SO:0001583	missense	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203144711G>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.173C>A	1.37:g.203144711G>T	ENSP00000255416:p.Ser58Tyr					FMOD_uc010pqi.1_Intron	p.S58Y	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	1	232	-			58					Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	c.173C>A	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671847	0.47781	.	.	ENSG00000133055	ENST00000255416	T	0.52526	0.66	5.11	5.11	0.69529	.	0.312064	0.23222	N	0.050548	T	0.28167	0.0695	N	0.08118	0	0.24129	N	0.995777	P	0.44877	0.845	B	0.37601	0.254	T	0.25847	-1.0120	10	0.66056	D	0.02	.	14.0414	0.64676	0.0:0.0:1.0:0.0	.	58	Q13203	MYBPH_HUMAN	Y	58	ENSP00000255416:S58Y	ENSP00000255416:S58Y	S	-	2	0	MYBPH	201411334	0.975000	0.34042	0.032000	0.17829	0.018000	0.09664	3.635000	0.54309	2.379000	0.81126	0.313000	0.20887	TCC		0.657	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		16	133	1	0	4.96729e-08	0.008871	8.33507e-08	16	133				
PRELP	5549	broad.mit.edu	37	1	203452913	203452913	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:203452913G>T	ENST00000343110.2	+	2	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	201	Poly-Leu.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.D201Y(3)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCTCCTGGATCTCCAGCA	0.607																																							uc001gzs.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(601-603)GAT>TAT		proline arginine-rich end leucine-rich repeat							92.0	96.0	95.0					1																	203452913		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452913G>T	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.601G>T	1.37:g.203452913G>T	ENSP00000343924:p.Asp201Tyr					PRELP_uc001gzt.2_Missense_Mutation_p.D201Y	p.D201Y	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	801	+			201			Poly-Leu.|LRR 5.		Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.601G>T	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219728	0.58560	.	.	ENSG00000188783	ENST00000343110	T	0.60424	0.19	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	N	0.25144	0.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52888	-0.8515	10	0.02654	T	1	-13.8327	16.3701	0.83353	0.0:0.0:1.0:0.0	.	201	P51888	PRELP_HUMAN	Y	201	ENSP00000343924:D201Y	ENSP00000343924:D201Y	D	+	1	0	PRELP	201719536	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.017000	0.88712	2.214000	0.71695	0.462000	0.41574	GAT		0.607	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		16	97	1	0	6.72482e-11	0.003163	1.2282e-10	16	97				
CDK18	5129	broad.mit.edu	37	1	205492412	205492412	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:205492412C>G	ENST00000360066.2	+	2	418	c.117C>G	c.(115-117)aaC>aaG	p.N39K	CDK18_ENST00000429964.2_Missense_Mutation_p.N39K|CDK18_ENST00000506784.1_Missense_Mutation_p.N39K|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	37							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.N39K(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGCTCCACAACCGGCGGAATG	0.597																																					Pancreas(180;489 2072 28461 40831 44265)	Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)	2						c.(115-117)AAC>AAG		PCTAIRE protein kinase 3 isoform a							56.0	62.0	60.0					1																	205492412		2203	4300	6503	SO:0001583	missense	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205492412C>G	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.117C>G	1.37:g.205492412C>G	ENSP00000353176:p.Asn39Lys					CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.N39K|CDK18_uc001hcq.2_Missense_Mutation_p.N39K|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank	p.N39K	NM_212503	NP_997668	Q07002	CDK18_HUMAN			2	336	+			37					Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	c.117C>G	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157654	0.38119	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.69685	-0.39;-0.42;-0.39;1.41;1.43	5.23	1.19	0.21007	.	0.205872	0.50627	D	0.000120	T	0.48519	0.1504	L	0.38175	1.15	0.30211	N	0.797688	P;B	0.41008	0.735;0.253	B;B	0.38985	0.287;0.156	T	0.50482	-0.8823	10	0.08599	T	0.76	-26.6699	9.2852	0.37753	0.0:0.6856:0.0:0.3144	.	39;39	Q07002-3;Q07002-2	.;.	K	39	ENSP00000399082:N39K;ENSP00000423665:N39K;ENSP00000353176:N39K;ENSP00000397831:N39K;ENSP00000391324:N39K	ENSP00000353176:N39K	N	+	3	2	CDK18	203759035	0.882000	0.30256	0.350000	0.25708	0.688000	0.40055	1.572000	0.36461	0.354000	0.24105	0.655000	0.94253	AAC		0.597	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		3	42	0	0	0	0.001168	0	3	42				
CENPF	1063	broad.mit.edu	37	1	214815375	214815375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:214815375G>T	ENST00000366955.3	+	12	3862	c.3694G>T	c.(3694-3696)Gag>Tag	p.E1232*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1232*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGGAGAAGGAGTGCCTGCA	0.373																																					Colon(80;575 1284 11000 14801 43496)	Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(3694-3696)GAG>TAG		centromere protein F							42.0	46.0	45.0					1																	214815375		2203	4298	6501	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815375G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3694G>T	1.37:g.214815375G>T	ENSP00000355922:p.Glu1232*						p.E1232*	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3868	+			1308			Potential.		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.3694G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	42	9.517275	0.99193	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.17	2.19	0.27852	.	1.270870	0.05898	N	0.629477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	6.3943	0.21603	0.1645:0.1498:0.6857:0.0	.	.	.	.	X	1232	.	ENSP00000355922:E1232X	E	+	1	0	CENPF	212881998	0.848000	0.29623	0.000000	0.03702	0.898000	0.52572	0.913000	0.28611	0.168000	0.19655	0.511000	0.50034	GAG		0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		6	34	1	0	0.00116845	0.001168	0.00142726	6	34				
USH2A	7399	broad.mit.edu	37	1	215847618	215847618	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:215847618A>T	ENST00000307340.3	-	63	14021	c.13635T>A	c.(13633-13635)ccT>ccA	p.P4545P	USH2A_ENST00000366943.2_Silent_p.P4545P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4545	Fibronectin type-III 31. {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.P4545P(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)		AGATCTCCTGAGGACCCCTGG	0.473										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13633-13635)CCT>CCA		usherin isoform B							95.0	98.0	97.0					1																	215847618		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847618A>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.13635T>A	1.37:g.215847618A>T		HNSCC(13;0.011)					p.P4545P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	14022	-			4545			Fibronectin type-III 31.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.13635T>A	CCDS31025.1																																																																																				0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	94	0	0	0	0.001855	0	14	94				
USH2A	7399	broad.mit.edu	37	1	216420508	216420508	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:216420508C>G	ENST00000307340.3	-	13	2614	c.2228G>C	c.(2227-2229)gGa>gCa	p.G743A	USH2A_ENST00000366942.3_Missense_Mutation_p.G743A|USH2A_ENST00000366943.2_Missense_Mutation_p.G743A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	743	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G743A(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)		GGGCTCACATCCAACATCATT	0.403										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.(2227-2229)GGA>GCA		usherin isoform B							84.0	89.0	88.0					1																	216420508		2202	4299	6501	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.chr1:216420508C>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.2228G>C	1.37:g.216420508C>G	ENSP00000305941:p.Gly743Ala	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.G743A	p.G743A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2615	-			743			Laminin EGF-like 4.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2228G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592062	0.86953	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62364	0.03;0.03;0.03	5.69	5.69	0.88448	EGF-like, laminin (4);	0.000000	0.43919	D	0.000515	D	0.84206	0.5421	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.73708	0.981;0.946	D	0.87035	0.2137	10	0.72032	D	0.01	.	19.8068	0.96534	0.0:1.0:0.0:0.0	.	743;743	O75445-2;O75445	.;USH2A_HUMAN	A	743	ENSP00000305941:G743A;ENSP00000355910:G743A;ENSP00000355909:G743A	ENSP00000305941:G743A	G	-	2	0	USH2A	214487131	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.139000	0.77314	2.658000	0.90341	0.655000	0.94253	GGA		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		11	78	0	0	0	0.001368	0	11	78				
EPRS	2058	broad.mit.edu	37	1	220195837	220195837	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:220195837A>G	ENST00000366923.3	-	9	1236	c.967T>C	c.(967-969)Tgg>Cgg	p.W323R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	323	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.W323R(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATTTCTTCCCACATTTGTAGA	0.338																																							uc001hly.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(967-969)TGG>CGG		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						156.0	145.0	149.0					1																	220195837		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220195837A>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.967T>C	1.37:g.220195837A>G	ENSP00000355890:p.Trp323Arg					EPRS_uc010puf.1_Missense_Mutation_p.W74R|EPRS_uc001hlz.1_Missense_Mutation_p.W323R|EPRS_uc009xdt.1_Missense_Mutation_p.W124R	p.W323R	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	9	1237	-			323			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.967T>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.767446	0.90020	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.21543	2.0	5.74	5.74	0.90152	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	H	0.96430	3.82	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;0.99	D;D;D;D	0.87578	0.98;0.998;0.959;0.957	T	0.75144	-0.3421	10	0.87932	D	0	-10.3204	16.0347	0.80617	1.0:0.0:0.0:0.0	.	347;323;323;323	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	R	323;323;347	ENSP00000355890:W323R	ENSP00000355890:W323R	W	-	1	0	EPRS	218262460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.672000	0.91181	2.194000	0.70268	0.459000	0.35465	TGG		0.338	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		9	95	0	0	0	0.000978	0	9	95				
ADCK3	56997	broad.mit.edu	37	1	227152708	227152708	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:227152708A>T	ENST00000366779.1	+	8	2956	c.185A>T	c.(184-186)gAt>gTt	p.D62V	ADCK3_ENST00000366778.1_Missense_Mutation_p.D10V|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.D62V|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000433743.2_5'Flank			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	62					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D62V(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGGGTCAGGATAAACATGAA	0.582																																							uc001hqm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GAT>GTT		chaperone, ABC1 activity of bc1 complex like							49.0	57.0	54.0					1																	227152708		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227152708A>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.185A>T	1.37:g.227152708A>T	ENSP00000355741:p.Asp62Val					CABC1_uc010pvp.1_Missense_Mutation_p.D25V|CABC1_uc001hqn.1_Missense_Mutation_p.D62V|CABC1_uc009xeq.1_Missense_Mutation_p.D10V|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	p.D62V	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			8	3604	+		Prostate(94;0.0771)	62					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.185A>T	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463538	0.26248	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000405743	T;T;T	0.73575	-0.71;-0.76;-0.71	5.36	4.22	0.49857	.	1.911720	0.02360	N	0.076785	T	0.68458	0.3003	L	0.44542	1.39	0.46774	D	0.999199	B	0.02656	0.0	B	0.01281	0.0	T	0.50145	-0.8862	10	0.27082	T	0.32	5.042	6.4101	0.21686	0.7408:0.1766:0.0825:0.0	.	62	Q8NI60	ADCK3_HUMAN	V	62;10;62;25	ENSP00000355741:D62V;ENSP00000355740:D10V;ENSP00000355739:D62V	ENSP00000355739:D62V	D	+	2	0	ADCK3	225219331	0.924000	0.31332	0.259000	0.24435	0.567000	0.35839	1.817000	0.39002	0.974000	0.38366	0.533000	0.62120	GAT		0.582	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		5	24	0	0	0	0.000602	0	5	24				
TAF5L	27097	broad.mit.edu	37	1	229730202	229730202	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:229730202C>T	ENST00000366676.1	-	4	1611	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N	TAF5L_ENST00000258281.2_Missense_Mutation_p.D538N			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	538					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D538N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTCCTGATGTCCCAGACGCGC	0.592																																							uc001htq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1612-1614)GAC>AAC		PCAF associated factor 65 beta isoform a							82.0	72.0	75.0					1																	229730202		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730202C>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1612G>A	1.37:g.229730202C>T	ENSP00000355636:p.Asp538Asn						p.D538N	NM_014409	NP_055224	O75529	TAF5L_HUMAN			5	1778	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	538			WD 6.		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.1612G>A	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389636	0.95988	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.68025	-0.3;-0.3	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	L	0.60904	1.88	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.78745	-0.2084	10	0.51188	T	0.08	-39.3841	20.4239	0.99064	0.0:1.0:0.0:0.0	.	538	O75529	TAF5L_HUMAN	N	538	ENSP00000355636:D538N;ENSP00000258281:D538N	ENSP00000258281:D538N	D	-	1	0	TAF5L	227796825	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.756000	0.85195	2.828000	0.97474	0.655000	0.94253	GAC		0.592	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		6	27	0	0	0	0.001984	0	6	27				
PGBD5	79605	broad.mit.edu	37	1	230492710	230492710	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:230492710T>C	ENST00000525115.1	-	2	505	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	PGBD5_ENST00000391860.1_Missense_Mutation_p.Y115C|PGBD5_ENST00000321327.2_Missense_Mutation_p.Y260C			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	161						integral component of membrane (GO:0016021)		p.Y260C(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGGACCTTGTAGAGCCCGTG	0.622																																							uc010pwb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(481-483)TAC>TGC		piggyBac transposable element derived 5							84.0	76.0	78.0					1																	230492710		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230492710T>C	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.482A>G	1.37:g.230492710T>C	ENSP00000431404:p.Tyr161Cys					PGBD5_uc001htv.2_Missense_Mutation_p.Y260C	p.Y161C	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	2	482	-	Breast(184;0.0397)	Prostate(94;0.167)	161					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.482A>G		.	.	.	.	.	.	.	.	.	.	T	24.0	4.477420	0.84640	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18174	2.23;2.23;2.23	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03025	-1.1081	10	0.49607	T	0.09	-44.672	16.5582	0.84512	0.0:0.0:0.0:1.0	.	161	Q8N414	PGBD5_HUMAN	C	115;260;161	ENSP00000375733:Y115C;ENSP00000322530:Y260C;ENSP00000431404:Y161C	ENSP00000322530:Y260C	Y	-	2	0	PGBD5	228559333	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.024000	0.88770	2.308000	0.77769	0.533000	0.62120	TAC		0.622	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		13	45	0	0	0	0.001855	0	13	45				
LYST	1130	broad.mit.edu	37	1	235969785	235969785	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:235969785T>C	ENST00000389794.3	-	6	2825	c.2651A>G	c.(2650-2652)aAg>aGg	p.K884R	LYST_ENST00000536965.1_Missense_Mutation_p.K884R|LYST_ENST00000389793.2_Missense_Mutation_p.K884R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	884					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.K884R(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)			CTTCCGTCTCTTTGGATAAGC	0.398																																							uc001hxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(2650-2652)AAG>AGG		lysosomal trafficking regulator							104.0	107.0	106.0					1																	235969785		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.chr1:235969785T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2651A>G	1.37:g.235969785T>C	ENSP00000374444:p.Lys884Arg					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.K884R	p.K884R	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2826	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	884					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2651A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629491	0.28978	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62788	0.0;0.0;1.12	5.48	0.0763	0.14402	.	1.078760	0.07040	N	0.829898	T	0.43211	0.1237	N	0.16307	0.4	0.29483	N	0.856234	B;B	0.15930	0.015;0.001	B;B	0.15870	0.014;0.005	T	0.36529	-0.9744	10	0.45353	T	0.12	.	5.4201	0.16396	0.0:0.2594:0.1361:0.6045	.	884;884	Q99698-3;Q99698	.;LYST_HUMAN	R	884	ENSP00000374444:K884R;ENSP00000374443:K884R;ENSP00000438315:K884R	ENSP00000374443:K884R	K	-	2	0	LYST	234036408	1.000000	0.71417	0.138000	0.22173	0.653000	0.38743	1.500000	0.35682	-0.011000	0.14247	0.533000	0.62120	AAG		0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			18	76	0	0	0	0.007413	0	18	76				
NID1	4811	broad.mit.edu	37	1	236180456	236180456	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:236180456G>T	ENST00000264187.6	-	10	2328	c.2246C>A	c.(2245-2247)aCg>aAg	p.T749K	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	749	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.T749K(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	ACCCACACACGTTCCCTCATC	0.483																																							uc001hxo.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(2245-2247)ACG>AAG		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						195.0	184.0	188.0					1																	236180456		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236180456G>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2246C>A	1.37:g.236180456G>T	ENSP00000264187:p.Thr749Lys					NID1_uc009xgd.2_Intron	p.T749K	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		10	2348	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	749			EGF-like 3; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2246C>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735051	0.30774	.	.	ENSG00000116962	ENST00000264187	D	0.91843	-2.92	5.93	1.3	0.21679	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.174227	0.64402	N	0.000008	T	0.79034	0.4378	N	0.02420	-0.555	0.35181	D	0.772518	B	0.22080	0.064	B	0.33690	0.168	T	0.69595	-0.5103	10	0.17832	T	0.49	.	8.7439	0.34573	0.1318:0.0:0.6502:0.218	.	749	P14543	NID1_HUMAN	K	749	ENSP00000264187:T749K	ENSP00000264187:T749K	T	-	2	0	NID1	234247079	0.785000	0.28726	0.260000	0.24451	0.430000	0.31655	2.327000	0.43858	0.369000	0.24510	-0.270000	0.10280	ACG		0.483	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		14	77	1	0	0.00316338	0.003163	0.00376688	14	77				
ACTN2	88	broad.mit.edu	37	1	236924413	236924413	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:236924413G>T	ENST00000366578.4	+	20	2632	c.2466G>T	c.(2464-2466)acG>acT	p.T822T	ACTN2_ENST00000542672.1_Silent_p.T822T|ACTN2_ENST00000546208.1_Silent_p.T316T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	822	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.T822T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTAGAGAGACGGCTGACACCG	0.542																																							uc001hyf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2464-2466)ACG>ACT		actinin, alpha 2							120.0	104.0	110.0					1																	236924413		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236924413G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2466G>T	1.37:g.236924413G>T						ACTN2_uc001hyg.2_Silent_p.T614T|ACTN2_uc009xgi.1_Silent_p.T822T|ACTN2_uc010pxu.1_Silent_p.T511T|ACTN2_uc001hyh.2_Silent_p.T510T	p.T822T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		20	2670	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	822			EF-hand 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.2466G>T	CCDS1613.1																																																																																				0.542	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		10	51	1	0	0.000151284	0.001855	0.000205083	10	51				
ACTN2	88	broad.mit.edu	37	1	236924444	236924444	+	Missense_Mutation	SNP	G	G	T	rs200854335		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:236924444G>T	ENST00000366578.4	+	20	2663	c.2497G>T	c.(2497-2499)Gcc>Tcc	p.A833S	ACTN2_ENST00000542672.1_Missense_Mutation_p.A833S|ACTN2_ENST00000546208.1_Missense_Mutation_p.A327S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	833					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.A833S(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCAGGTCATCGCCTCCTTCCG	0.517																																							uc001hyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2497-2499)GCC>TCC		actinin, alpha 2							91.0	86.0	88.0					1																	236924444		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236924444G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2497G>T	1.37:g.236924444G>T	ENSP00000355537:p.Ala833Ser					ACTN2_uc001hyg.2_Missense_Mutation_p.A625S|ACTN2_uc009xgi.1_Missense_Mutation_p.A833S|ACTN2_uc010pxu.1_Missense_Mutation_p.A522S|ACTN2_uc001hyh.2_Missense_Mutation_p.A521S	p.A833S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		20	2701	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	833					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.2497G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565681	0.86439	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.43294	0.95;0.95;0.95	5.88	5.88	0.94601	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.48362	1.52	0.80722	D	1	D;B;D;B	0.62365	0.991;0.203;0.991;0.111	D;B;D;B	0.91635	0.999;0.397;0.999;0.37	T	0.56300	-0.8002	10	0.46703	T	0.11	.	20.2441	0.98394	0.0:0.0:1.0:0.0	.	618;833;603;833	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	S	833;833;327;602	ENSP00000443495:A833S;ENSP00000355537:A833S;ENSP00000438384:A327S	ENSP00000355537:A833S	A	+	1	0	ACTN2	234991067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.774000	0.95407	0.655000	0.94253	GCC		0.517	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		8	50	1	0	0.00829132	0.008291	0.00961116	8	50				
RYR2	6262	broad.mit.edu	37	1	237659966	237659966	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237659966A>G	ENST00000366574.2	+	20	2434	c.2117A>G	c.(2116-2118)tAc>tGc	p.Y706C	RYR2_ENST00000360064.6_Missense_Mutation_p.Y704C|RYR2_ENST00000542537.1_Missense_Mutation_p.Y690C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	706	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Y704C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATTCTCCCTACCCTGGAGGG	0.517																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2116-2118)TAC>TGC		cardiac muscle ryanodine receptor							118.0	123.0	122.0					1																	237659966		1944	4148	6092	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237659966A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2117A>G	1.37:g.237659966A>G	ENSP00000355533:p.Tyr706Cys						p.Y706C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2237	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	706			Cytoplasmic (By similarity).|B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2117A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140549	0.77775	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97553	-4.43;-4.41;-4.42	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000016	D	0.98707	0.9566	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99679	1.0998	10	0.72032	D	0.01	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	706	Q92736	RYR2_HUMAN	C	706;704;690	ENSP00000355533:Y706C;ENSP00000353174:Y704C;ENSP00000443798:Y690C	ENSP00000353174:Y704C	Y	+	2	0	RYR2	235726589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.468000	0.80943	2.288000	0.76882	0.528000	0.53228	TAC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	61	0	0	0	0.001168	0	6	61				
RYR2	6262	broad.mit.edu	37	1	237711850	237711850	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237711850G>T	ENST00000366574.2	+	26	3343	c.3026G>T	c.(3025-3027)cGg>cTg	p.R1009L	RYR2_ENST00000360064.6_Missense_Mutation_p.R1007L|RYR2_ENST00000542537.1_Missense_Mutation_p.R993L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1009	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1007L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGTGGGCGCGGGATCGAATC	0.468																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3025-3027)CGG>CTG		cardiac muscle ryanodine receptor							62.0	59.0	60.0					1																	237711850		1933	4148	6081	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237711850G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3026G>T	1.37:g.237711850G>T	ENSP00000355533:p.Arg1009Leu						p.R1009L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		26	3146	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1009			Cytoplasmic (By similarity).|2.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3026G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054780	0.93793	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91237	-2.81;-2.81;-2.81	5.73	5.73	0.89815	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000019	D	0.93625	0.7964	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.93717	0.7029	10	0.87932	D	0	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	1009	Q92736	RYR2_HUMAN	L	1009;1007;993	ENSP00000355533:R1009L;ENSP00000353174:R1007L;ENSP00000443798:R993L	ENSP00000353174:R1007L	R	+	2	0	RYR2	235778473	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.501000	0.66950	2.854000	0.98071	0.655000	0.94253	CGG		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	22	1	0	0.00024832	0.000248	0.000325365	4	22				
RYR2	6262	broad.mit.edu	37	1	237730037	237730038	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237730037_237730038GG>TT	ENST00000366574.2	+	28	3702_3703	c.3385_3386GG>TT	c.(3385-3387)GGc>TTc	p.G1129F	RYR2_ENST00000360064.6_Missense_Mutation_p.G1127F|RYR2_ENST00000542537.1_Missense_Mutation_p.G1113F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1129	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1127F(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGGAGCTTGGCTCAGATGAA	0.53																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3385-3387)GGC>TTC		cardiac muscle ryanodine receptor																																				SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237730037_237730038GG>TT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	Exception_encountered	1.37:g.237730037_237730038delinsTT	ENSP00000355533:p.Gly1129Phe						p.G1129F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3505_3506	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1129			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	DNP	ENST00000366574.2	37	c.3385_3386GG>TT	CCDS55691.1																																																																																				0.530	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	103	0	0	0	0.004672	0	20	103				
RYR2	6262	broad.mit.edu	37	1	237777524	237777524	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237777524G>C	ENST00000366574.2	+	37	5413	c.5096G>C	c.(5095-5097)cGt>cCt	p.R1699P	RYR2_ENST00000360064.6_Missense_Mutation_p.R1697P|RYR2_ENST00000542537.1_Missense_Mutation_p.R1683P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1699	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1697P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTTTGCTGCGTGCTGGCTAC	0.552																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5095-5097)CGT>CCT		cardiac muscle ryanodine receptor							65.0	65.0	65.0					1																	237777524		2171	4265	6436	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777524G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5096G>C	1.37:g.237777524G>C	ENSP00000355533:p.Arg1699Pro						p.R1699P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5216	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1699			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5096G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086426	0.76642	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74737	-0.87;-0.87;-0.87	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000005	D	0.88865	0.6553	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89861	0.4016	10	0.87932	D	0	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	1699	Q92736	RYR2_HUMAN	P	1699;1697;1683	ENSP00000355533:R1699P;ENSP00000353174:R1697P;ENSP00000443798:R1683P	ENSP00000353174:R1697P	R	+	2	0	RYR2	235844147	1.000000	0.71417	0.965000	0.40720	0.497000	0.33675	9.813000	0.99286	2.730000	0.93505	0.655000	0.94253	CGT		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	29	0	0	0	0.004672	0	3	29				
RYR2	6262	broad.mit.edu	37	1	237811774	237811774	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237811774C>T	ENST00000366574.2	+	49	7690	c.7373C>T	c.(7372-7374)gCg>gTg	p.A2458V	RYR2_ENST00000360064.6_Missense_Mutation_p.A2456V|RYR2_ENST00000542537.1_Missense_Mutation_p.A2442V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2458	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A2456V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGTCTGCGGGGTTTTGC	0.458																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7372-7374)GCG>GTG		cardiac muscle ryanodine receptor							95.0	88.0	90.0					1																	237811774		1896	4136	6032	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237811774C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7373C>T	1.37:g.237811774C>T	ENSP00000355533:p.Ala2458Val						p.A2458V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		49	7493	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2458			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7373C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521356	0.85600	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96522	-4.04;-4.04;-4.04	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000014	D	0.97835	0.9289	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98223	1.0479	10	0.66056	D	0.02	-12.8196	14.7056	0.69189	0.1456:0.8544:0.0:0.0	.	2458	Q92736	RYR2_HUMAN	V	2458;2456;2442	ENSP00000355533:A2458V;ENSP00000353174:A2456V;ENSP00000443798:A2442V	ENSP00000353174:A2456V	A	+	2	0	RYR2	235878397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.945000	0.70226	2.563000	0.86464	0.655000	0.94253	GCG		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	11	0	0	0	0.000248	0	3	11				
CHRM3	1131	broad.mit.edu	37	1	240071400	240071400	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:240071400C>A	ENST00000255380.4	+	5	1428	c.649C>A	c.(649-651)Cct>Act	p.P217T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	217					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.P217T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAGAACTGTGCCTCCGGGAGA	0.488																																							uc001hyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(649-651)CCT>ACT		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						159.0	163.0	162.0					1																	240071400		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071400C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.649C>A	1.37:g.240071400C>A	ENSP00000255380:p.Pro217Thr						p.P217T	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1428	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	217			Extracellular (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.649C>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499992	0.64298	.	.	ENSG00000133019	ENST00000255380	T	0.38240	1.15	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.182925	0.47852	D	0.000212	T	0.38108	0.1028	L	0.51914	1.62	0.80722	D	1	B	0.32382	0.368	B	0.35114	0.196	T	0.22277	-1.0221	10	0.62326	D	0.03	-22.6919	15.6263	0.76859	0.1379:0.8621:0.0:0.0	.	217	P20309	ACM3_HUMAN	T	217	ENSP00000255380:P217T	ENSP00000255380:P217T	P	+	1	0	CHRM3	238138023	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.985000	0.70556	2.731000	0.93534	0.650000	0.86243	CCT		0.488	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		22	121	1	0	8.04996e-18	0.001882	1.57397e-17	22	121				
RGS7	6000	broad.mit.edu	37	1	240975308	240975309	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:240975308_240975309CC>AA	ENST00000407727.1	-	13	990_991	c.991_992GG>TT	c.(991-993)GGt>TTt	p.G331F	RGS7_ENST00000366564.1_Missense_Mutation_p.G331F|RGS7_ENST00000366565.1_Missense_Mutation_p.G331F|RGS7_ENST00000446183.2_Missense_Mutation_p.G247F|RGS7_ENST00000348120.2_Missense_Mutation_p.G278F|RGS7_ENST00000401882.1_Missense_Mutation_p.G278F|RGS7_ENST00000366562.4_Missense_Mutation_p.G331F|RGS7_ENST00000331110.7_Missense_Mutation_p.G305F|RGS7_ENST00000366563.1_Missense_Mutation_p.G331F			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	331					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.G331F(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CATGCCAAAACCCCATCGTTTT	0.381																																							uc001hyv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(991-993)GGT>TTT		regulator of G-protein signaling 7																																				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.chr1:240975308_240975309CC>AA	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.991_992delinsAA	1.37:g.240975308_240975309delinsAA	ENSP00000384428:p.Gly331Phe					RGS7_uc010pyh.1_Missense_Mutation_p.G305F|RGS7_uc010pyj.1_Missense_Mutation_p.G247F|RGS7_uc001hyu.2_Missense_Mutation_p.G331F|RGS7_uc009xgn.1_Missense_Mutation_p.G278F|RGS7_uc001hyw.2_Missense_Mutation_p.G331F|RGS7_uc001hyt.2_Missense_Mutation_p.G163F	p.G331F	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		14	1321_1322	-		all_cancers(173;0.0131)	331					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	DNP	ENST00000407727.1	37	c.991_992GG>TT																																																																																					0.381	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		8	78	0	0	0	0.004672	0	8	78				
KMO	8564	broad.mit.edu	37	1	241725627	241725627	+	Nonsense_Mutation	SNP	G	G	T	rs372169138		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:241725627G>T	ENST00000366559.4	+	7	921	c.610G>T	c.(610-612)Gga>Tga	p.G204*	KMO_ENST00000366558.3_Nonsense_Mutation_p.G204*|KMO_ENST00000366557.4_Nonsense_Mutation_p.G204*	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.G204*(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)			ACCTAAGAACGGAGATGTAAG	0.473																																							uc009xgp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(610-612)GGA>TGA		kynurenine 3-monooxygenase							209.0	191.0	197.0					1																	241725627		2203	4300	6503	SO:0001587	stop_gained	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.chr1:241725627G>T	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.610G>T	1.37:g.241725627G>T	ENSP00000355517:p.Gly204*					KMO_uc001hyy.2_Nonsense_Mutation_p.G204*|KMO_uc009xgo.1_Nonsense_Mutation_p.G204*	p.G204*	NM_003679	NP_003670	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		7	675	+	Ovarian(103;0.103)|all_lung(81;0.23)		204						Nonsense_Mutation	SNP	ENST00000366559.4	37	c.610G>T	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618468	0.96649	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.0366	0.86478	0.0:0.0:1.0:0.0	.	.	.	.	X	204	.	ENSP00000355515:G204X	G	+	1	0	KMO	239792250	1.000000	0.71417	0.948000	0.38648	0.028000	0.11728	9.060000	0.93907	2.610000	0.88304	0.561000	0.74099	GGA		0.473	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		17	127	1	0	8.34094e-07	0.008871	1.30514e-06	17	127				
PLD5	200150	broad.mit.edu	37	1	242253272	242253272	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:242253272C>A	ENST00000536534.2	-	10	1736	c.1495G>T	c.(1495-1497)Gcc>Tcc	p.A499S	PLD5_ENST00000442594.2_Missense_Mutation_p.A407S|PLD5_ENST00000427495.1_Missense_Mutation_p.A437S			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	499						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.A407S(1)|p.A499S(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)			AAGGTTTTGGCATACGGTGAA	0.478																																							uc001hzn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(1495-1497)GCC>TCC		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;							284.0	258.0	267.0					1																	242253272		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242253272C>A	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.1495G>T	1.37:g.242253272C>A	ENSP00000440896:p.Ala499Ser					PLD5_uc001hzl.3_Missense_Mutation_p.A437S|PLD5_uc001hzm.3_Missense_Mutation_p.A289S|PLD5_uc001hzo.1_Missense_Mutation_p.A407S	p.A499S			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		10	1622	-	Melanoma(84;0.242)		499					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1495G>T	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592580	0.46214	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.21543	2.0;2.0;2.0	5.77	5.77	0.91146	.	0.055331	0.64402	D	0.000001	T	0.25082	0.0609	L	0.42686	1.345	0.45852	D	0.99871	P;P;P	0.51537	0.946;0.911;0.946	P;B;P	0.46253	0.509;0.433;0.509	T	0.00824	-1.1551	10	0.22706	T	0.39	-22.3788	17.7645	0.88473	0.0:1.0:0.0:0.0	.	407;499;437	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	S	437;407;499	ENSP00000401285:A437S;ENSP00000414188:A407S;ENSP00000440896:A499S	ENSP00000401285:A437S	A	-	1	0	PLD5	240319895	0.998000	0.40836	0.983000	0.44433	0.980000	0.70556	3.641000	0.54360	2.723000	0.93209	0.655000	0.94253	GCC		0.478	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		31	149	1	0	7.61165e-28	0.003755	1.52502e-27	31	149				
VN1R5	317705	broad.mit.edu	37	1	247419455	247419455	+	IGR	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:247419455C>A								RP11-488L18.8 (14330 upstream) : Y_RNA (38681 downstream)																							CACAGATATCCTTTGCTTTAA	0.328																																						GBM(98;63 1399 4825 21305 33017)	uc010pyu.1		NA																	0					0						c.(82-84)CTT>ATT		vomeronasal 1 receptor 5							101.0	102.0	102.0					1																	247419455		1823	4087	5910	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419455C>A																													1.37:g.247419455C>A							p.L28I	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		1	82	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	28			Cytoplasmic (Potential).			Missense_Mutation	SNP		37	c.82C>A																																																																																				0	0.328									9	64	1	0	5.4927e-09	0.004482	9.52628e-09	9	64				
NLRP3	114548	broad.mit.edu	37	1	247588721	247588721	+	Missense_Mutation	SNP	C	C	A	rs201875324		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:247588721C>A	ENST00000336119.3	+	3	2722	c.1976C>A	c.(1975-1977)aCc>aAc	p.T659N	NLRP3_ENST00000366496.2_Missense_Mutation_p.T659N|NLRP3_ENST00000391828.3_Missense_Mutation_p.T659N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.T659N|NLRP3_ENST00000366497.2_Missense_Mutation_p.T659N|NLRP3_ENST00000391827.2_Missense_Mutation_p.T659N	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	659					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.T659N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AATCTCTCCACCAGAATGGAC	0.493																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1975-1977)ACC>AAC		NLR family, pyrin domain containing 3 isoform a							98.0	83.0	88.0					1																	247588721		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588721C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1976C>A	1.37:g.247588721C>A	ENSP00000337383:p.Thr659Asn					NLRP3_uc001ics.2_Missense_Mutation_p.T659N|NLRP3_uc001icu.2_Missense_Mutation_p.T659N|NLRP3_uc001icw.2_Missense_Mutation_p.T659N|NLRP3_uc001icv.2_Missense_Mutation_p.T659N|NLRP3_uc010pyw.1_Missense_Mutation_p.T657N|NLRP3_uc001ict.1_Missense_Mutation_p.T657N	p.T659N	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2114	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	659					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1976C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423862	0.62733	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	3.96	3.96	0.45880	.	0.129853	0.35805	N	0.002968	D	0.89612	0.6765	L	0.60012	1.86	0.38285	D	0.942536	D;P;D;P;D	0.89917	0.998;0.584;1.0;0.729;0.999	D;B;D;P;D	0.81914	0.957;0.382;0.995;0.544;0.979	D	0.86083	0.1545	10	0.09590	T	0.72	.	11.8199	0.52232	0.0:1.0:0.0:0.0	.	659;659;659;659;659	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	N	659	ENSP00000375704:T659N;ENSP00000355453:T659N;ENSP00000337383:T659N;ENSP00000294752:T659N;ENSP00000355452:T659N;ENSP00000375703:T659N	ENSP00000337383:T659N	T	+	2	0	NLRP3	245655344	0.074000	0.21230	0.951000	0.38953	0.789000	0.44602	0.287000	0.18920	2.502000	0.84385	0.655000	0.94253	ACC		0.493	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		7	36	1	0	1.06961e-07	0.00308	1.76868e-07	7	36				
NLRP3	114548	broad.mit.edu	37	1	247608039	247608039	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:247608039T>G	ENST00000336119.3	+	8	3673	c.2927T>G	c.(2926-2928)cTg>cGg	p.L976R	NLRP3_ENST00000366496.2_Missense_Mutation_p.L919R|NLRP3_ENST00000391828.3_Missense_Mutation_p.L976R|NLRP3_ENST00000348069.2_Missense_Mutation_p.L862R|NLRP3_ENST00000366497.2_Missense_Mutation_p.L919R|NLRP3_ENST00000391827.2_Missense_Mutation_p.L919R	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	976					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L976R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGCTGAGCCTGGGCAACAAT	0.562																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2926-2928)CTG>CGG		NLR family, pyrin domain containing 3 isoform a							67.0	61.0	63.0					1																	247608039		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247608039T>G	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2927T>G	1.37:g.247608039T>G	ENSP00000337383:p.Leu976Arg					NLRP3_uc001ics.2_Missense_Mutation_p.L919R|NLRP3_uc001icu.2_Missense_Mutation_p.L976R|NLRP3_uc001icw.2_Missense_Mutation_p.L919R|NLRP3_uc001icv.2_Missense_Mutation_p.L862R|NLRP3_uc010pyw.1_Missense_Mutation_p.L954R	p.L976R	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		10	3065	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	976			LRR 9.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2927T>G	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848215	0.71603	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	4.71	4.71	0.59529	.	0.000000	0.37669	N	0.001990	D	0.89005	0.6592	H	0.97940	4.11	0.34149	D	0.667346	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.999;1.0;0.994;0.992;0.993	D	0.94246	0.7489	10	0.87932	D	0	.	11.155	0.48482	0.0:0.0:0.0:1.0	.	956;919;862;919;976	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	R	976;919;976;862;919;919	ENSP00000375704:L976R;ENSP00000355453:L919R;ENSP00000337383:L976R;ENSP00000294752:L862R;ENSP00000355452:L919R;ENSP00000375703:L919R	ENSP00000337383:L976R	L	+	2	0	NLRP3	245674662	1.000000	0.71417	0.555000	0.28281	0.936000	0.57629	3.425000	0.52771	2.061000	0.61500	0.448000	0.29417	CTG		0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		5	52	0	0	0	0.000602	0	5	52				
OR2C3	81472	broad.mit.edu	37	1	247694964	247694964	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:247694964G>T	ENST00000366487.3	-	2	1211	c.850C>A	c.(850-852)Cct>Act	p.P284T	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P283T(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TTCAGCGCAGGAGTGACTACG	0.532																																							uc009xgy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(850-852)CCT>ACT		olfactory receptor, family 2, subfamily C,							108.0	93.0	98.0					1																	247694964		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247694964G>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.850C>A	1.37:g.247694964G>T	ENSP00000355443:p.Pro284Thr					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.P284T	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1212	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	284			Helical; Name=7; (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.850C>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360441	0.41801	.	.	ENSG00000196242	ENST00000366487	T	0.00344	8.02	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35615	U	0.003086	T	0.01730	0.0055	H	0.99525	4.61	0.34953	D	0.751439	D	0.71674	0.998	D	0.68943	0.961	T	0.03463	-1.1034	10	0.87932	D	0	.	13.8211	0.63320	0.0:0.0:1.0:0.0	.	284	Q8N628	OR2C3_HUMAN	T	284	ENSP00000355443:P284T	ENSP00000355443:P284T	P	-	1	0	OR2C3	245761587	1.000000	0.71417	0.085000	0.20634	0.013000	0.08279	6.073000	0.71245	2.157000	0.67596	0.655000	0.94253	CCT		0.532	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		5	41	1	0	3.59834e-05	0.001168	5.08422e-05	5	41				
OR2G3	81469	broad.mit.edu	37	1	247768905	247768905	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:247768905G>T	ENST00000320002.2	+	1	50	c.18G>T	c.(16-18)gaG>gaT	p.E6D	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E6D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGGCAATGAGAGTTCCCTAA	0.463																																							uc010pyz.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(16-18)GAG>GAT		olfactory receptor, family 2, subfamily G,							147.0	150.0	149.0					1																	247768905		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247768905G>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.18G>T	1.37:g.247768905G>T	ENSP00000326301:p.Glu6Asp						p.E6D	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	18	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		6			Extracellular (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.18G>T	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	4.771	0.143362	0.09134	.	.	ENSG00000177476	ENST00000320002	T	0.00512	6.89	3.64	-5.08	0.02929	.	1.796880	0.03774	N	0.260308	T	0.00356	0.0011	N	0.20766	0.605	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46303	-0.9201	10	0.10636	T	0.68	.	12.451	0.55677	0.0869:0.6379:0.2752:0.0	.	6	Q8NGZ4	OR2G3_HUMAN	D	6	ENSP00000326301:E6D	ENSP00000326301:E6D	E	+	3	2	OR2G3	245835528	0.000000	0.05858	0.002000	0.10522	0.144000	0.21451	-0.537000	0.06128	-0.719000	0.04942	-0.481000	0.04817	GAG		0.463	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			8	48	1	0	7.48243e-07	0.006214	1.17892e-06	8	48				
OR2W3	343171	broad.mit.edu	37	1	248059679	248059679	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248059679C>A	ENST00000360358.3	+	1	791	c.791C>A	c.(790-792)gCc>gAc	p.A264D	OR2W3_ENST00000537741.1_Missense_Mutation_p.A264D	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A264D(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGCCAGGAGCCAGTTCTTCC	0.532																																							uc001idp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(790-792)GCC>GAC		olfactory receptor, family 2, subfamily W,							123.0	114.0	117.0					1																	248059679		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059679C>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.791C>A	1.37:g.248059679C>A	ENSP00000353516:p.Ala264Asp					OR2W3_uc010pzb.1_Missense_Mutation_p.A264D	p.A264D	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	1060	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		264			Extracellular (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.791C>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	C	6.027	0.373434	0.11409	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00152	8.66;8.66	5.29	-5.89	0.02282	GPCR, rhodopsin-like superfamily (1);	0.717261	0.13395	N	0.391067	T	0.00109	0.0003	L	0.43757	1.38	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.24977	-1.0145	10	0.42905	T	0.14	.	11.1775	0.48607	0.1749:0.6134:0.2117:0.0	.	264	Q7Z3T1	OR2W3_HUMAN	D	264	ENSP00000445853:A264D;ENSP00000353516:A264D	ENSP00000353516:A264D	A	+	2	0	OR2W3	246126302	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.736000	0.04882	-0.783000	0.04534	-1.263000	0.01449	GCC		0.532	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		7	66	1	0	0.000274275	0.004482	0.000355681	7	66				
OR2AK2	391191	broad.mit.edu	37	1	248129102	248129102	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248129102T>C	ENST00000366480.3	+	1	568	c.469T>C	c.(469-471)Tgc>Cgc	p.C157R	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C157R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GAAGATCTGCTGCCTCATGGT	0.423																																					Melanoma(45;390 1181 23848 28461 41504)	Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(469-471)TGC>CGC		olfactory receptor, family 2, subfamily AK,							249.0	221.0	231.0					1																	248129102		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129102T>C	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.469T>C	1.37:g.248129102T>C	ENSP00000355436:p.Cys157Arg					OR2L13_uc001ids.2_Intron	p.C157R	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	469	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		157			Helical; Name=4; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.469T>C	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	10.28	1.306137	0.23736	.	.	ENSG00000187080	ENST00000366480	T	0.35789	1.29	2.97	-5.94	0.02247	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.22205	0.0535	N	0.04724	-0.175	0.09310	N	0.999997	P	0.52316	0.952	P	0.54815	0.761	T	0.16719	-1.0393	9	0.54805	T	0.06	.	3.4718	0.07570	0.102:0.3068:0.4352:0.1559	.	157	Q8NG84	O2AK2_HUMAN	R	157	ENSP00000355436:C157R	ENSP00000355436:C157R	C	+	1	0	OR2AK2	246195725	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-5.007000	0.00160	-1.389000	0.02090	0.374000	0.22700	TGC		0.423	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		21	152	0	0	0	0.001882	0	21	152				
OR2M5	127059	broad.mit.edu	37	1	248308455	248308455	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248308455A>G	ENST00000366476.1	+	1	6	c.6A>G	c.(4-6)gcA>gcG	p.A2A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A2A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TCATCATGGCATGGGAGAATC	0.403																																							uc010pze.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(4-6)GCA>GCG		olfactory receptor, family 2, subfamily M,							183.0	181.0	181.0					1																	248308455		2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308455A>G		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.6A>G	1.37:g.248308455A>G							p.A2A	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	6	+	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)		2			Extracellular (Potential).			Silent	SNP	ENST00000366476.1	37	c.6A>G	CCDS31105.1																																																																																				0.403	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		14	116	0	0	0	0.00245	0	14	116				
OR2M2	391194	broad.mit.edu	37	1	248344004	248344004	+	Silent	SNP	G	G	T	rs375862698		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248344004G>T	ENST00000359682.2	+	1	717	c.717G>T	c.(715-717)acG>acT	p.T239T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T239T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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)			AAGCTTTCACGACCTGTTCCT	0.488																																							uc010pzf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(715-717)ACG>ACT		olfactory receptor, family 2, subfamily M,							203.0	180.0	188.0					1																	248344004		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344004G>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.717G>T	1.37:g.248344004G>T							p.T239T	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	717	+	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)		239			Helical; Name=6; (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.717G>T	CCDS31106.1																																																																																				0.488	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		44	158	1	0	9.14704e-12	0.00874	1.70066e-11	44	158				
OR2T3	343173	broad.mit.edu	37	1	248637465	248637465	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248637465A>T	ENST00000359594.2	+	1	839	c.814A>T	c.(814-816)Aca>Tca	p.T272S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T272S(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TTCCTACCACACAGCTGAGCA	0.542																																							uc001iel.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(814-816)ACA>TCA		olfactory receptor, family 2, subfamily T,							329.0	310.0	317.0					1																	248637465		2203	4300	6503	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637465A>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.814A>T	1.37:g.248637465A>T	ENSP00000352604:p.Thr272Ser						p.T272S	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	814	+	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)		272			Extracellular (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.814A>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	a	6.425	0.446624	0.12223	.	.	ENSG00000196539	ENST00000359594	T	0.00017	9.1	2.37	-0.449	0.12226	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.01128	-1	0.09310	N	1	P	0.45396	0.857	P	0.52957	0.714	T	0.41520	-0.9504	9	0.02654	T	1	.	2.5776	0.04810	0.6002:0.0:0.1641:0.2357	.	272	Q8NH03	OR2T3_HUMAN	S	272	ENSP00000352604:T272S	ENSP00000352604:T272S	T	+	1	0	OR2T3	246704088	0.000000	0.05858	0.042000	0.18584	0.361000	0.29550	-0.333000	0.07894	0.841000	0.35020	0.156000	0.16432	ACA		0.542	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		12	200	0	0	0	0.004007	0	12	200				
AKR1E2	83592	broad.mit.edu	37	10	4872893	4872893	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:4872893A>G	ENST00000298375.7	+	2	137	c.66A>G	c.(64-66)gcA>gcG	p.A22A	AKR1E2_ENST00000345253.5_Silent_p.A22A|AKR1E2_ENST00000334019.4_Silent_p.A22A|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000532248.1_Silent_p.A22A	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)	p.A22A(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGACCGAGGCAGTGAAAGAGG	0.507																																					NSCLC(43;343 1097 20371 28813 45509)	NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)GCA>GCG		aldo-keto reductase family 1, member E2							160.0	138.0	146.0					10																	4872893		2203	4300	6503	SO:0001819	synonymous_variant	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4872893A>G	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.66A>G	10.37:g.4872893A>G						AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Silent_p.A22A|AKR1E2_uc001ihh.1_Silent_p.A22A|AKR1E2_uc009xhw.2_Silent_p.A22A|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Silent_p.A22A	p.A22A	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			2	181	+			22					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	ENST00000298375.7	37	c.66A>G	CCDS31134.1																																																																																				0.507	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		8	69	0	0	0	0.004482	0	8	69				
TUBAL3	79861	broad.mit.edu	37	10	5436254	5436254	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:5436254T>A	ENST00000380419.3	-	4	604	c.567A>T	c.(565-567)gtA>gtT	p.V189V	TUBAL3_ENST00000479328.1_Silent_p.V149V	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	189					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.V189V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TATAAGGCTCTACCACAGCAG	0.512																																							uc001ihy.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(565-567)GTA>GTT		tubulin, alpha-like 3							109.0	98.0	102.0					10																	5436254		2203	4300	6503	SO:0001819	synonymous_variant	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5436254T>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.567A>T	10.37:g.5436254T>A						TUBAL3_uc001ihz.2_Silent_p.V149V	p.V189V	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			4	607	-			189					B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	ENST00000380419.3	37	c.567A>T	CCDS7066.2																																																																																				0.512	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		13	30	0	0	0	0.001368	0	13	30				
IL15RA	3601	broad.mit.edu	37	10	6001727	6001727	+	Missense_Mutation	SNP	G	G	T	rs564121465	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:6001727G>T	ENST00000379977.3	-	5	703	c.606C>A	c.(604-606)agC>agA	p.S202R	IL15RA_ENST00000530685.1_Missense_Mutation_p.S169R|IL15RA_ENST00000397248.2_Missense_Mutation_p.S166R|IL15RA_ENST00000397250.2_Missense_Mutation_p.S104R|IL15RA_ENST00000397255.3_Missense_Mutation_p.S202R|IL15RA_ENST00000397251.3_Missense_Mutation_p.S137R|IL15RA_ENST00000528354.1_Missense_Mutation_p.S169R|IL15RA_ENST00000379971.1_Missense_Mutation_p.S104R|IL15RA_ENST00000525219.2_Missense_Mutation_p.S166R|IL15RA_ENST00000534292.1_5'UTR			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	202					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.S202R(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CAGTGGTGTCGCTGTGGCCCT	0.577																																							uc001iiv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(604-606)AGC>AGA		interleukin 15 receptor, alpha isoform 1							132.0	90.0	105.0					10																	6001727		2203	4300	6503	SO:0001583	missense	3601				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	g.chr10:6001727G>T	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.606C>A	10.37:g.6001727G>T	ENSP00000369312:p.Ser202Arg					IL15RA_uc001iiu.2_Missense_Mutation_p.S50R|IL15RA_uc010qau.1_Missense_Mutation_p.S169R|IL15RA_uc001iiw.2_Missense_Mutation_p.S166R|IL15RA_uc001iix.2_Missense_Mutation_p.S133R|IL15RA_uc001iiy.2_Missense_Mutation_p.S50R	p.S202R	NM_002189	NP_002180	Q13261	I15RA_HUMAN			5	688	-			202			Extracellular (Potential).		B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	ENST00000379977.3	37	c.606C>A	CCDS7074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.58|10.58	1.388804|1.388804	0.25118|0.25118	.|.	.|.	ENSG00000134470|ENSG00000134470	ENST00000435171;ENST00000447291;ENST00000532039|ENST00000397246;ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250;ENST00000379971;ENST00000530685;ENST00000397255;ENST00000525219;ENST00000429135	.|T;T;T;T;T;T;T;T;T	.|0.42513	.|1.43;1.43;1.43;1.43;1.43;0.97;1.85;1.43;2.02	3.77|3.77	0.144|0.144	0.14824|0.14824	.|.	.|2.113300	.|0.01920	.|N	.|0.040454	T|T	0.21509|0.21509	0.0518|0.0518	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14012	.|0.001;0.001;0.009	.|B;B;B	.|0.10450	.|0.001;0.001;0.005	T|T	0.13202|0.13202	-1.0518|-1.0518	5|10	.|0.10902	.|T	.|0.67	-6.0596|-6.0596	4.7758|4.7758	0.13178|0.13178	0.0:0.1105:0.4164:0.4731|0.0:0.1105:0.4164:0.4731	.|.	.|169;202;166	.|Q13261-3;Q13261;E7ETI1	.|.;I15RA_HUMAN;.	E|R	78;105;107|166;137;202;166;166;169;104;104;169;202;137;169	.|ENSP00000380423:S137R;ENSP00000369312:S202R;ENSP00000380421:S166R;ENSP00000435454:S169R;ENSP00000380422:S104R;ENSP00000369306:S104R;ENSP00000435995:S169R;ENSP00000380426:S202R;ENSP00000395113:S169R	.|ENSP00000322245:S166R	A|S	-|-	2|3	0|2	IL15RA|IL15RA	6041733|6041733	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-1.096000|-1.096000	0.03353|0.03353	0.009000|0.009000	0.14813|0.14813	-0.521000|-0.521000	0.04368|0.04368	GCG|AGC		0.577	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189		3	20	1	0	0.004672	0.004672	0.00544907	3	20				
USP6NL	9712	broad.mit.edu	37	10	11504534	11504534	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:11504534C>T	ENST00000609104.1	-	15	2787	c.2393G>A	c.(2392-2394)aGt>aAt	p.S798N	USP6NL_ENST00000277575.5_Missense_Mutation_p.S815N|USP6NL_ENST00000379237.2_Missense_Mutation_p.S821N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	798					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.S815N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCAGATGGACTGGCATCTTC	0.537																																							uc001ikt.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2392-2394)AGT>AAT		USP6 N-terminal like isoform 1							88.0	94.0	92.0					10																	11504534		1934	4133	6067	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11504534C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2393G>A	10.37:g.11504534C>T	ENSP00000476462:p.Ser798Asn					USP6NL_uc001iks.1_Missense_Mutation_p.S815N	p.S798N	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	2714	-			798					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.2393G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	7.489	0.650364	0.14516	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04194	3.68;3.69	5.97	4.11	0.48088	.	1.843710	0.02196	N	0.061873	T	0.06600	0.0169	L	0.36672	1.1	0.09310	N	1	B;B	0.25904	0.085;0.137	B;B	0.25140	0.026;0.058	T	0.42155	-0.9468	10	0.21540	T	0.41	.	9.9611	0.41697	0.0:0.6682:0.2634:0.0684	.	798;815	Q92738;Q92738-2	US6NL_HUMAN;.	N	798;815;798	ENSP00000277575:S815N;ENSP00000368539:S798N	ENSP00000277575:S815N	S	-	2	0	USP6NL	11544540	0.000000	0.05858	0.029000	0.17559	0.067000	0.16453	0.565000	0.23578	1.522000	0.49001	0.655000	0.94253	AGT		0.537	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		10	66	0	0	0	0.008291	0	10	66				
PLXDC2	84898	broad.mit.edu	37	10	20290820	20290820	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:20290820A>G	ENST00000377252.4	+	2	1070	c.229A>G	c.(229-231)Acg>Gcg	p.T77A	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77A	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	77					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T77A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGCGGTAGACACGAACCGAGC	0.537																																							uc001iqg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(229-231)ACG>GCG		plexin domain containing 2 precursor							94.0	77.0	83.0					10																	20290820		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20290820A>G	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.229A>G	10.37:g.20290820A>G	ENSP00000366460:p.Thr77Ala					PLXDC2_uc001iqh.1_Missense_Mutation_p.T77A	p.T77A	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			2	866	+			77			Extracellular (Potential).		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.229A>G	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	A	9.638	1.138288	0.21123	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.28666	1.92;1.6	5.9	2.09	0.27110	.	0.193759	0.56097	D	0.000039	T	0.25680	0.0625	L	0.44542	1.39	0.80722	D	1	B;B	0.26195	0.144;0.026	B;B	0.24006	0.05;0.022	T	0.06698	-1.0812	10	0.87932	D	0	.	11.1086	0.48218	0.7108:0.0:0.0:0.2892	.	77;77	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	A	77;77;63	ENSP00000366460:T77A;ENSP00000366450:T77A	ENSP00000366450:T77A	T	+	1	0	PLXDC2	20330826	0.997000	0.39634	0.750000	0.31169	0.018000	0.09664	2.539000	0.45718	0.080000	0.16959	0.528000	0.53228	ACG		0.537	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		3	28	0	0	0	0.000248	0	3	28				
SKIDA1	387640	broad.mit.edu	37	10	21804386	21804386	+	Missense_Mutation	SNP	C	C	A	rs200920908		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:21804386C>A	ENST00000449193.2	-	4	4618	c.2366G>T	c.(2365-2367)cGa>cTa	p.R789L	SKIDA1_ENST00000444772.3_Missense_Mutation_p.R710L	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	708						nucleus (GO:0005634)		p.R789L(2)									AAGGACAGGTCGCTTTCCCAG	0.448																																							uc009xkd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2365-2367)CGA>CTA		hypothetical protein LOC387640							129.0	120.0	123.0					10																	21804386		1850	4090	5940	SO:0001583	missense	387640					nucleus	nucleotide binding	g.chr10:21804386C>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2366G>T	10.37:g.21804386C>A	ENSP00000410041:p.Arg789Leu					uc001iqp.1_Intron	p.R789L	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4619	-			708					B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.2366G>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454907	0.43634	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.75	5.75	0.90469	.	0.075681	0.53938	D	0.000046	T	0.55065	0.1897	L	0.43152	1.355	0.39957	D	0.974615	P	0.40398	0.716	B	0.38194	0.267	T	0.61501	-0.7050	9	0.87932	D	0	2.2212	20.312	0.98644	0.0:1.0:0.0:0.0	.	789	E9PAX1	.	L	789;710	.	ENSP00000442432:R710L	R	-	2	0	C10orf140	21844392	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.495000	0.35627	2.880000	0.98712	0.655000	0.94253	CGA		0.448	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		9	91	1	0	1.76689e-08	0.006214	3.00478e-08	9	91				
GPR158	57512	broad.mit.edu	37	10	25887285	25887285	+	Silent	SNP	G	G	A	rs201167926		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:25887285G>A	ENST00000376351.3	+	11	3089	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	910					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K910K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAGCGCCAAGGAGAAGACTC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		18157	0.001		0.0	False		,,,				2504	0.0						uc001isj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2728-2730)AAG>AAA		G protein-coupled receptor 158 precursor							134.0	142.0	139.0					10																	25887285		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887285G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2730G>A	10.37:g.25887285G>A						GPR158_uc001isk.2_Silent_p.K285K	p.K910K	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2790	+			910			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.2730G>A	CCDS31166.1																																																																																				0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		15	95	0	0	0	0.003163	0	15	95				
MYO3A	53904	broad.mit.edu	37	10	26286106	26286106	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:26286106A>T	ENST00000265944.5	+	6	593	c.427A>T	c.(427-429)Aac>Tac	p.N143Y	MYO3A_ENST00000376301.1_Missense_Mutation_p.N143Y|MYO3A_ENST00000543632.1_Missense_Mutation_p.N143Y|MYO3A_ENST00000376302.1_Missense_Mutation_p.N143Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.N143Y(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						ACATTTGCATAACAACAAAAC	0.313																																							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.(427-429)AAC>TAC		myosin IIIA							81.0	77.0	78.0					10																	26286106		2203	4297	6500	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.chr10:26286106A>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.427A>T	10.37:g.26286106A>T	ENSP00000265944:p.Asn143Tyr					MYO3A_uc009xko.1_Missense_Mutation_p.N143Y|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.N143Y|MYO3A_uc001ism.2_Missense_Mutation_p.N143Y	p.N143Y	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			6	787	+			143			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.427A>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128895	0.56721	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.44482	2.49;2.49;2.49;0.92	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.819631	0.12152	N	0.494802	T	0.38931	0.1059	L	0.38649	1.16	0.25555	N	0.987048	P;P;P;B	0.45715	0.666;0.714;0.865;0.411	B;B;P;B	0.47891	0.308;0.435;0.56;0.285	T	0.36212	-0.9757	10	0.56958	D	0.05	.	5.0305	0.14407	0.7046:0.1776:0.1177:0.0	.	143;143;143;143	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	Y	143	ENSP00000265944:N143Y;ENSP00000365479:N143Y;ENSP00000445909:N143Y;ENSP00000365478:N143Y	ENSP00000265944:N143Y	N	+	1	0	MYO3A	26326112	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.871000	0.56077	2.178000	0.69098	0.482000	0.46254	AAC		0.313	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		3	46	0	0	0	0.000248	0	3	46				
KIAA1462	57608	broad.mit.edu	37	10	30336559	30336559	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:30336559C>G	ENST00000375377.1	-	2	284	c.183G>C	c.(181-183)gcG>gcC	p.A61A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	61					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.A61A(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCCTTTCCCCGCGGACGTCT	0.677																																							uc001iux.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(181-183)GCG>GCC		hypothetical protein LOC57608							42.0	47.0	45.0					10																	30336559		2019	4159	6178	SO:0001819	synonymous_variant	57608							g.chr10:30336559C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.183G>C	10.37:g.30336559C>G						KIAA1462_uc001iuy.2_Silent_p.A61A|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Silent_p.A61A	p.A61A	NM_020848	NP_065899	Q9P266	K1462_HUMAN			1	242	-			61					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.183G>C	CCDS41500.1																																																																																				0.677	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		7	58	0	0	0	0.00308	0	7	58				
NRP1	8829	broad.mit.edu	37	10	33496628	33496628	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:33496628T>C	ENST00000265371.4	-	11	2156	c.1631A>G	c.(1630-1632)aAc>aGc	p.N544S	NRP1_ENST00000374875.1_Missense_Mutation_p.N363S|NRP1_ENST00000374823.5_Missense_Mutation_p.N544S|NRP1_ENST00000374821.5_Missense_Mutation_p.N544S|NRP1_ENST00000374867.2_Missense_Mutation_p.N544S|NRP1_ENST00000374822.4_Missense_Mutation_p.N544S|NRP1_ENST00000395995.1_Missense_Mutation_p.N544S|NRP1_ENST00000374816.3_Missense_Mutation_p.N544S			O14786	NRP1_HUMAN	neuropilin 1	544	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.N544S(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ATCATAGTTGTTGTTGCCCTC	0.488																																					Melanoma(104;886 1489 44640 45944 51153)	Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1630-1632)AAC>AGC		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						157.0	151.0	153.0					10																	33496628		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33496628T>C	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1631A>G	10.37:g.33496628T>C	ENSP00000265371:p.Asn544Ser					NRP1_uc001iwv.3_Missense_Mutation_p.N544S|NRP1_uc009xlz.2_Missense_Mutation_p.N544S|NRP1_uc001iww.3_Missense_Mutation_p.N363S|NRP1_uc001iwy.3_Missense_Mutation_p.N544S|NRP1_uc001iwz.2_Missense_Mutation_p.N544S|NRP1_uc001ixa.2_Missense_Mutation_p.N544S|NRP1_uc001ixb.1_Missense_Mutation_p.N544S	p.N544S	NM_003873	NP_003864	O14786	NRP1_HUMAN			10	2154	-			544			Extracellular (Potential).|F5/8 type C 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1631A>G	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	T	8.930	0.963218	0.18583	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374814;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	D;D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.35	-0.184	0.13280	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.326873	0.36665	N	0.002478	D	0.90528	0.7032	N	0.02960	-0.455	0.30447	N	0.775677	B;B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001;0.0;0.0	D	0.84977	0.0886	10	0.14656	T	0.56	-18.085	1.7538	0.02977	0.1118:0.1888:0.3212:0.3782	.	544;544;544;544;544;544;363;544	A8K9V7;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;NRP1_HUMAN;.;.	S	544;363;544;544;15;544;544;544;544	ENSP00000265371:N544S;ENSP00000364009:N363S;ENSP00000364001:N544S;ENSP00000379317:N544S;ENSP00000363955:N544S;ENSP00000363954:N544S;ENSP00000363956:N544S;ENSP00000363949:N544S	ENSP00000265371:N544S	N	-	2	0	NRP1	33536634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.113000	0.31184	0.072000	0.16694	0.533000	0.62120	AAC		0.488	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			10	83	0	0	0	0.001368	0	10	83				
ANKRD30A	91074	broad.mit.edu	37	10	37451742	37451742	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:37451742C>G	ENST00000602533.1	+	17	1899	c.1800C>G	c.(1798-1800)gcC>gcG	p.A600A	ANKRD30A_ENST00000374660.1_Silent_p.A600A|ANKRD30A_ENST00000361713.1_Silent_p.A600A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	656					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A600A(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						CAAATAAAGCCTTGGAATTGA	0.318																																							uc001iza.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1798-1800)GCC>GCG		ankyrin repeat domain 30A							113.0	101.0	104.0					10																	37451742		1804	4062	5866	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37451742C>G	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.1800C>G	10.37:g.37451742C>G							p.A600A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			17	1899	+			656					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1800C>G																																																																																					0.318	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		12	57	0	0	0	0.001855	0	12	57				
RET	5979	broad.mit.edu	37	10	43608348	43608348	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:43608348C>A	ENST00000355710.3	+	9	1928	c.1696C>A	c.(1696-1698)Ccc>Acc	p.P566T	RET_ENST00000340058.5_Missense_Mutation_p.P566T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	566					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P566T(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CAAGACCTGCCCCGACGGCCA	0.602		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		1	Substitution - Missense(1)		lung(1)	thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(1696-1698)CCC>ACC		ret proto-oncogene isoform a	Sunitinib(DB01268)						106.0	79.0	88.0					10																	43608348		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43608348C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1696C>A	10.37:g.43608348C>A	ENSP00000347942:p.Pro566Thr					RET_uc001jak.1_Missense_Mutation_p.P566T|RET_uc010qez.1_Missense_Mutation_p.P312T	p.P566T	NM_020975	NP_066124	P07949	RET_HUMAN			9	1886	+		Ovarian(717;0.0423)	566			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1696C>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704884	0.68615	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	D;D;D	0.99239	-2.5;-5.61;-2.62	5.26	5.26	0.73747	.	0.050591	0.85682	D	0.000000	D	0.99435	0.9800	M	0.85859	2.78	0.80722	D	1	D;D;D	0.76494	0.995;0.998;0.999	P;D;D	0.68765	0.848;0.949;0.96	D	0.98834	1.0752	10	0.87932	D	0	.	18.8569	0.92255	0.0:1.0:0.0:0.0	.	312;566;566	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	566;83;566	ENSP00000347942:P566T;ENSP00000419080:P83T;ENSP00000344798:P566T	ENSP00000344798:P566T	P	+	1	0	RET	42928354	1.000000	0.71417	0.989000	0.46669	0.295000	0.27426	7.294000	0.78760	2.460000	0.83146	0.462000	0.41574	CCC		0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		4	29	1	0	0.000602214	0.000602	0.000754262	4	29				
FAM21C	253725	broad.mit.edu	37	10	46254832	46254832	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:46254832G>T	ENST00000336378.4	+	17	1736	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	FAM21C_ENST00000374362.2_Missense_Mutation_p.D540Y|FAM21C_ENST00000540872.1_Missense_Mutation_p.D540Y|FAM21C_ENST00000359860.4_Missense_Mutation_p.D484Y|FAM21C_ENST00000537517.1_Missense_Mutation_p.D516Y	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	540					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.D539Y(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTATTTTCAGATGAGGAGGA	0.408																																							uc001jcu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1618-1620)GAT>TAT		hypothetical protein LOC253725							24.0	32.0	29.0					10																	46254832		1742	4026	5768	SO:0001583	missense	253725							g.chr10:46254832G>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1618G>T	10.37:g.46254832G>T	ENSP00000337541:p.Asp540Tyr					FAM21C_uc001jcs.1_Missense_Mutation_p.D485Y|FAM21C_uc001jct.2_Missense_Mutation_p.D540Y|FAM21C_uc010qfi.1_Missense_Mutation_p.D516Y|FAM21C_uc010qfj.1_Intron|FAM21C_uc010qfk.1_5'UTR	p.D540Y	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			17	1717	+			540					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1618G>T		.	.	.	.	.	.	.	.	.	.	G	15.09	2.730676	0.48939	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.26	3.26	0.37387	.	0.230711	0.44285	D	0.000467	T	0.78007	0.4216	M	0.81239	2.535	0.53688	D	0.999977	P;D;D;D	0.89917	0.937;0.997;0.997;1.0	P;D;D;D	0.91635	0.694;0.953;0.953;0.999	T	0.81629	-0.0846	9	0.87932	D	0	-4.1134	12.4004	0.55410	0.0:0.0:1.0:0.0	.	516;540;540;485	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	Y	540;540;516;540;540;484;452	.	ENSP00000337541:D540Y	D	+	1	0	FAM21C	45574838	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.335000	0.65929	1.832000	0.53329	0.423000	0.28283	GAT		0.408	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				6	41	1	0	0.00621372	0.006214	0.00722496	6	41				
C10orf53	282966	broad.mit.edu	37	10	50901862	50901862	+	Missense_Mutation	SNP	T	T	A	rs147880636		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:50901862T>A	ENST00000374111.3	+	2	152	c.140T>A	c.(139-141)aTa>aAa	p.I47K	C10orf53_ENST00000535836.1_Missense_Mutation_p.I47K|C10orf53_ENST00000374113.3_Missense_Mutation_p.I47K|C10orf53_ENST00000374112.3_Missense_Mutation_p.I47K|CHAT_ENST00000455728.2_3'UTR	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	47								p.I47K(2)		endometrium(1)|lung(6)	7		all_neural(218;0.107)				CTAGAGAAGATAGAAGACTGG	0.473																																							uc001jib.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(139-141)ATA>AAA		chromosome 10 open reading frame 53 isoform b							174.0	158.0	164.0					10																	50901862		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50901862T>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.140T>A	10.37:g.50901862T>A	ENSP00000363225:p.Ile47Lys					CHAT_uc010qgs.1_3'UTR|C10orf53_uc001jic.1_Missense_Mutation_p.I47K|C10orf53_uc001jid.1_Missense_Mutation_p.I47K	p.I47K	NM_001042427	NP_001035892	Q8N6V4	CJ053_HUMAN			2	200	+		all_neural(218;0.107)	47					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374111.3	37	c.140T>A	CCDS41521.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066441	0.76187	.	.	ENSG00000178645	ENST00000374113;ENST00000374111;ENST00000374112;ENST00000535836	.	.	.	5.74	2.07	0.26955	.	0.189051	0.32503	U	0.006008	T	0.48572	0.1507	M	0.69823	2.125	0.46061	D	0.998845	P;P;B	0.43287	0.782;0.802;0.041	B;B;B	0.41813	0.367;0.177;0.027	T	0.45011	-0.9290	9	0.59425	D	0.04	-4.7325	5.704	0.17899	0.1255:0.1432:0.0:0.7313	.	47;47;47	B9ZVK6;Q8N6V4-2;Q8N6V4	.;.;CJ053_HUMAN	K	47	.	ENSP00000363225:I47K	I	+	2	0	C10orf53	50571868	0.969000	0.33509	0.967000	0.41034	0.951000	0.60555	1.496000	0.35638	0.433000	0.26313	0.533000	0.62120	ATA		0.473	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		5	53	0	0	0	0.001168	0	5	53				
OGDHL	55753	broad.mit.edu	37	10	50953905	50953905	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:50953905T>C	ENST00000374103.4	-	11	1500	c.1415A>G	c.(1414-1416)tAt>tGt	p.Y472C	OGDHL_ENST00000432695.1_Missense_Mutation_p.Y263C|OGDHL_ENST00000419399.1_Missense_Mutation_p.Y415C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	472					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.Y472C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTGCACACATATATCACAGC	0.587																																							uc001jie.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1414-1416)TAT>TGT		oxoglutarate dehydrogenase-like isoform a							108.0	92.0	97.0					10																	50953905		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50953905T>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1415A>G	10.37:g.50953905T>C	ENSP00000363216:p.Tyr472Cys					OGDHL_uc009xog.2_Missense_Mutation_p.Y499C|OGDHL_uc010qgt.1_Missense_Mutation_p.Y415C|OGDHL_uc010qgu.1_Missense_Mutation_p.Y263C|OGDHL_uc009xoh.2_Missense_Mutation_p.Y263C	p.Y472C	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			11	1557	-			472					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1415A>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018039	0.75275	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95821	-3.82;-3.82;-3.82	5.31	5.31	0.75309	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	M	0.79614	2.46	0.80722	D	1	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.75484	0.967;0.944;0.986	D	0.98264	1.0500	10	0.87932	D	0	.	15.5531	0.76170	0.0:0.0:0.0:1.0	.	415;263;472	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	C	472;415;263	ENSP00000363216:Y472C;ENSP00000401356:Y415C;ENSP00000390240:Y263C	ENSP00000363216:Y472C	Y	-	2	0	OGDHL	50623911	1.000000	0.71417	0.197000	0.23402	0.774000	0.43823	7.997000	0.88414	2.142000	0.66516	0.533000	0.62120	TAT		0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		13	38	0	0	0	0.001368	0	13	38				
MBL2	4153	broad.mit.edu	37	10	54527923	54527923	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:54527923G>A	ENST00000373968.3	-	4	785	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	241	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)	p.L241L(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CAGACGGCCAGATGGGAGGTG	0.493																																							uc001jjt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(721-723)CTG>TTG		soluble mannose-binding lectin precursor							246.0	223.0	231.0					10																	54527923		2202	4300	6502	SO:0001819	synonymous_variant	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54527923G>A	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.721C>T	10.37:g.54527923G>A							p.L241L	NM_000242	NP_000233	P11226	MBL2_HUMAN			4	786	-			241			C-type lectin.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Silent	SNP	ENST00000373968.3	37	c.721C>T	CCDS7247.1																																																																																				0.493	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		27	190	0	0	0	0.003954	0	27	190				
PCDH15	65217	broad.mit.edu	37	10	55698648	55698648	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:55698648C>A	ENST00000320301.6	-	25	3694	c.3300G>T	c.(3298-3300)agG>agT	p.R1100S	PCDH15_ENST00000361849.3_Missense_Mutation_p.R1100S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1107S|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1100S|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1029S|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1105S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1100S|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1063S|PCDH15_ENST00000409834.1_Missense_Mutation_p.R711S|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1107S|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1078S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1100	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1100S(2)|p.R1105S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATAGCTTGTCCTGGTCTCAT	0.373										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3298-3300)AGG>AGT		protocadherin 15 isoform CD1-4 precursor							116.0	108.0	111.0					10																	55698648		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55698648C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3300G>T	10.37:g.55698648C>A	ENSP00000322604:p.Arg1100Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.R1105S|PCDH15_uc010qhr.1_Missense_Mutation_p.R1100S|PCDH15_uc010qhs.1_Missense_Mutation_p.R1112S|PCDH15_uc010qht.1_Missense_Mutation_p.R1107S|PCDH15_uc010qhu.1_Missense_Mutation_p.R1100S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1100S|PCDH15_uc010qhw.1_Missense_Mutation_p.R1063S|PCDH15_uc010qhx.1_Missense_Mutation_p.R1029S|PCDH15_uc010qhy.1_Missense_Mutation_p.R1105S|PCDH15_uc010qhz.1_Missense_Mutation_p.R1100S|PCDH15_uc010qia.1_Missense_Mutation_p.R1078S|PCDH15_uc010qib.1_Missense_Mutation_p.R1078S	p.R1100S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			25	3695	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1100			Cadherin 10.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3300G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	9.740	1.164492	0.21538	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.59	-1.78	0.07957	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.21062	0.0507	N	0.02802	-0.49	0.28445	N	0.916602	B;B;B;B;B;B;B;B;B;B;B;B;B	0.29270	0.24;0.027;0.015;0.004;0.013;0.027;0.146;0.0;0.004;0.004;0.001;0.0;0.015	B;B;B;B;B;B;B;B;B;B;B;B;B	0.36766	0.232;0.012;0.012;0.012;0.012;0.012;0.232;0.007;0.017;0.017;0.012;0.002;0.012	T	0.39502	-0.9611	9	0.12103	T	0.63	.	6.7486	0.23475	0.0:0.3921:0.1205:0.4874	.	1078;1100;1100;1105;1029;1063;1100;1100;1107;1107;1100;1105;1100	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	1107;1105;1100;1100;711;1107;1063;1100;1078;1100;1100;1105;1029	ENSP00000363076:R1107S;ENSP00000410304:R1105S;ENSP00000378826:R1100S;ENSP00000386693:R711S;ENSP00000378832:R1107S;ENSP00000378820:R1063S;ENSP00000354950:R1100S;ENSP00000378821:R1078S;ENSP00000322604:R1100S;ENSP00000378818:R1100S;ENSP00000412628:R1029S	ENSP00000322604:R1100S	R	-	3	2	PCDH15	55368654	0.000000	0.05858	0.928000	0.36995	0.992000	0.81027	-0.875000	0.04205	-0.041000	0.13558	0.655000	0.94253	AGG		0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	52	1	0	5.18039e-06	0.00308	7.8153e-06	7	52				
TMEM26	219623	broad.mit.edu	37	10	63170401	63170401	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:63170401G>A	ENST00000399298.3	-	6	1154	c.786C>T	c.(784-786)ttC>ttT	p.F262F	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	262						integral component of membrane (GO:0016021)		p.F262F(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CATCTTGTATGAAGACGCTGA	0.502																																							uc001jlo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(784-786)TTC>TTT		transmembrane protein 26							74.0	77.0	76.0					10																	63170401		2104	4235	6339	SO:0001819	synonymous_variant	219623					integral to membrane		g.chr10:63170401G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.786C>T	10.37:g.63170401G>A						TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	p.F262F	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			6	1155	-	Prostate(12;0.0112)		262			Helical; (Potential).		Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	37	c.786C>T	CCDS41530.1																																																																																				0.502	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		7	17	0	0	0	0.001984	0	7	17				
JMJD1C	221037	broad.mit.edu	37	10	64975022	64975022	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:64975022C>A	ENST00000399262.2	-	7	1234		c.e7+1		JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Splice_Site|JMJD1C_ENST00000542921.1_Splice_Site|JMJD1C_ENST00000402544.1_Splice_Site	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C						blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.?(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTGGGTCCTACCTCCTCGTGA	0.308																																							uc001jmn.2		NA																	2	Unknown(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.e7+1		jumonji domain containing 1C isoform a							147.0	128.0	134.0					10																	64975022		1819	4084	5903	SO:0001630	splice_region_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64975022C>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1015+1G>T	10.37:g.64975022C>A						JMJD1C_uc001jml.2_Splice_Site_p.E120_splice|JMJD1C_uc001jmm.2_Splice_Site_p.E51_splice|JMJD1C_uc010qiq.1_Splice_Site_p.E157_splice|JMJD1C_uc009xpi.2_Splice_Site_p.E157_splice|JMJD1C_uc009xpj.1_Splice_Site|JMJD1C_uc001jmp.1_Splice_Site_p.E51_splice	p.E339_splice	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			7	1315	-	Prostate(12;0.0119)|all_hematologic(501;0.191)							A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	SNP	ENST00000399262.2	37	c.1015_splice	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318899	0.23994	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5791	0.87960	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JMJD1C	64645028	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	5.677000	0.68142	2.666000	0.90696	0.591000	0.81541	.		0.308	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	Intron	9	67	1	0	1.12685e-05	0.004482	1.66247e-05	9	67				
JMJD1C	221037	broad.mit.edu	37	10	64976995	64976995	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:64976995G>A	ENST00000399262.2	-	5	868	c.650C>T	c.(649-651)aCc>aTc	p.T217I	JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.T35I|JMJD1C_ENST00000402544.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	217					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.T217I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATGGTGCGGGTGAAGAGATC	0.368																																							uc001jmn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(649-651)ACC>ATC		jumonji domain containing 1C isoform a							116.0	112.0	113.0					10																	64976995		1852	4105	5957	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64976995G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.650C>T	10.37:g.64976995G>A	ENSP00000382204:p.Thr217Ile					JMJD1C_uc001jml.2_5'UTR|JMJD1C_uc001jmm.2_5'UTR|JMJD1C_uc010qiq.1_Missense_Mutation_p.T35I|JMJD1C_uc009xpi.2_Missense_Mutation_p.T35I|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_5'UTR	p.T217I	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			5	950	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		217					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.650C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667685	0.88348	.	.	ENSG00000171988	ENST00000399262;ENST00000542921	T;T	0.13901	2.55;2.55	5.74	5.74	0.90152	.	0.067253	0.64402	U	0.000017	T	0.26376	0.0644	L	0.49126	1.545	0.80722	D	1	D	0.60575	0.988	P	0.51657	0.676	T	0.00262	-1.1867	10	0.87932	D	0	-7.8705	19.915	0.97057	0.0:0.0:1.0:0.0	.	217	Q15652	JHD2C_HUMAN	I	217;35	ENSP00000382204:T217I;ENSP00000444682:T35I	ENSP00000382204:T217I	T	-	2	0	JMJD1C	64647001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.657000	0.67996	2.707000	0.92482	0.557000	0.71058	ACC		0.368	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		9	77	0	0	0	0.006214	0	9	77				
NEUROG3	50674	broad.mit.edu	37	10	71332358	71332358	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:71332358C>A	ENST00000242462.4	-	2	471	c.442G>T	c.(442-444)Gcg>Tcg	p.A148S		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	148					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.A148S(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GGCTCCAGCGCGTACAAGCTG	0.682																																							uc001jpp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GCG>TCG		neurogenin 3							31.0	32.0	32.0					10																	71332358		2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332358C>A	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.442G>T	10.37:g.71332358C>A	ENSP00000242462:p.Ala148Ser						p.A148S	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN			2	600	-			148					Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.442G>T	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248417	0.10130	.	.	ENSG00000122859	ENST00000242462	D	0.87966	-2.32	4.95	3.03	0.35002	Helix-loop-helix DNA-binding (1);	1.055790	0.07533	N	0.912582	T	0.72630	0.3484	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.58945	-0.7546	10	0.27785	T	0.31	-1.5296	7.9401	0.29952	0.0:0.6041:0.3128:0.0831	.	148	Q9Y4Z2	NGN3_HUMAN	S	148	ENSP00000242462:A148S	ENSP00000242462:A148S	A	-	1	0	NEUROG3	71002364	0.000000	0.05858	0.331000	0.25455	0.062000	0.15995	-0.578000	0.05841	0.621000	0.30232	-0.165000	0.13383	GCG		0.682	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		5	15	1	0	0.000602214	0.000602	0.000754262	5	15				
RBP4	5950	broad.mit.edu	37	10	95360226	95360226	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:95360226G>C	ENST00000371467.1	-	4	598	c.279C>G	c.(277-279)ggC>ggG	p.G93G	RBP4_ENST00000371469.2_Silent_p.G91G|RBP4_ENST00000371464.3_Silent_p.G93G|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	93			G -> D (in RDCCAS; dbSNP:rs121918585). {ECO:0000269|PubMed:9888420}.		cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)	p.G93G(1)		large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CTGTGAAGGTGCCCACCATGT	0.577																																					Pancreas(5;160 256 1117 46697 50185)	Pancreas(5;160 256 1117 46697 50185)	uc001kit.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(277-279)GGC>GGG		retinol-binding protein 4, plasma precursor	Vitamin A(DB00162)						101.0	101.0	101.0					10																	95360226		2203	4300	6503	SO:0001819	synonymous_variant	5950				cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	g.chr10:95360226G>C	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"""Lipocalins"""	9922	protein-coding gene	gene with protein product		180250	"""retinol-binding protein 4, plasma"""				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.279C>G	10.37:g.95360226G>C							p.G93G	NM_006744	NP_006735	P02753	RET4_HUMAN			4	363	-		Colorectal(252;0.122)	93		G -> D (in RBP deficiency).			D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Silent	SNP	ENST00000371467.1	37	c.279C>G	CCDS31249.1																																																																																				0.577	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		7	36	0	0	0	0.00308	0	7	36				
PIK3AP1	118788	broad.mit.edu	37	10	98408476	98408476	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:98408476G>A	ENST00000339364.5	-	7	1244	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Silent_p.P197P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	375					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.P375P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CGATGGTGTTGGGGTAGTGGC	0.577																																							uc001kmq.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(1123-1125)CCC>CCT		phosphoinositide-3-kinase adaptor protein 1							119.0	92.0	101.0					10																	98408476		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98408476G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1125C>T	10.37:g.98408476G>A						PIK3AP1_uc001kmp.2_Silent_p.P197P	p.P375P	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	7	1253	-		Colorectal(252;0.0442)	375					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.1125C>T	CCDS31259.1																																																																																				0.577	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		3	27	0	0	0	0.004672	0	3	27				
SORCS3	22986	broad.mit.edu	37	10	106907445	106907445	+	Missense_Mutation	SNP	C	C	A	rs373949251		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:106907445C>A	ENST00000369701.3	+	9	1600	c.1373C>A	c.(1372-1374)aCg>aAg	p.T458K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	458					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.T458K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGAACGACACGTACAACCTC	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1372-1374)ACG>AAG		VPS10 domain receptor protein SORCS 3 precursor							266.0	211.0	230.0					10																	106907445		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106907445C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1373C>A	10.37:g.106907445C>A	ENSP00000358715:p.Thr458Lys						p.T458K	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	9	1600	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	458			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1373C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027022	0.93518	.	.	ENSG00000156395	ENST00000369701	T	0.32515	1.45	5.27	5.27	0.74061	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.66081	-0.6012	10	0.72032	D	0.01	.	19.2555	0.93944	0.0:1.0:0.0:0.0	.	458	Q9UPU3	SORC3_HUMAN	K	458	ENSP00000358715:T458K	ENSP00000358715:T458K	T	+	2	0	SORCS3	106897435	1.000000	0.71417	0.958000	0.39756	0.977000	0.68977	7.776000	0.85560	2.639000	0.89480	0.650000	0.86243	ACG		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		3	32	1	0	0.00024832	0.000248	0.000325365	3	32				
SORCS1	114815	broad.mit.edu	37	10	108367013	108367013	+	Missense_Mutation	SNP	G	G	C	rs376177439		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:108367013G>C	ENST00000263054.6	-	23	3083	c.3076C>G	c.(3076-3078)Cct>Gct	p.P1026A	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.P1026A|SORCS1_ENST00000369698.1_Missense_Mutation_p.P561A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1026					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.P1026A(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGTAAGCCAGGGAGCACCGCC	0.562																																							uc001kym.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3076-3078)CCT>GCT		SORCS receptor 1 isoform a							74.0	71.0	72.0					10																	108367013		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108367013G>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3076C>G	10.37:g.108367013G>C	ENSP00000263054:p.Pro1026Ala					SORCS1_uc001kyl.2_Missense_Mutation_p.P1026A|SORCS1_uc009xxs.2_Missense_Mutation_p.P1026A|SORCS1_uc001kyn.1_Missense_Mutation_p.P1026A|SORCS1_uc001kyo.2_Missense_Mutation_p.P1026A	p.P1026A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3084	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1026			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3076C>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902291	0.72754	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.26957	1.7;2.24;2.19	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	M	0.83953	2.67	0.58432	D	0.999998	D;D;D;D;D	0.64830	0.98;0.994;0.988;0.99;0.988	D;D;D;D;D	0.72982	0.915;0.979;0.961;0.952;0.961	T	0.56792	-0.7920	9	.	.	.	-15.2346	19.9164	0.97064	0.0:0.0:1.0:0.0	.	1026;1026;1026;1026;1026	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	A	561;1026;1026	ENSP00000358712:P561A;ENSP00000263054:P1026A;ENSP00000345964:P1026A	.	P	-	1	0	SORCS1	108357003	1.000000	0.71417	0.858000	0.33744	0.574000	0.36063	6.671000	0.74472	2.804000	0.96469	0.655000	0.94253	CCT		0.562	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	25	0	0	0	0.000248	0	4	25				
KCNK18	338567	broad.mit.edu	37	10	118957067	118957067	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:118957067G>T	ENST00000334549.1	+	1	68	c.68G>T	c.(67-69)gGc>gTc	p.G23V		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	23					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.G23V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTCTTCCCTGGCCTCTGCTTC	0.632																																							uc010qsr.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(67-69)GGC>GTC		potassium channel, subfamily K, member 18							82.0	72.0	75.0					10																	118957067		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118957067G>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.68G>T	10.37:g.118957067G>T	ENSP00000334650:p.Gly23Val						p.G23V	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	68	+		Colorectal(252;0.19)	23			Cytoplasmic (Potential).		Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.68G>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	6.141	0.394178	0.11638	.	.	ENSG00000186795	ENST00000334549	T	0.20738	2.05	4.17	3.27	0.37495	.	0.214881	0.47455	D	0.000236	T	0.10594	0.0259	N	0.14661	0.345	0.41114	D	0.985765	B	0.29716	0.255	B	0.23275	0.045	T	0.13442	-1.0509	10	0.45353	T	0.12	.	8.0058	0.30323	0.1094:0.0:0.8906:0.0	.	23	Q7Z418	KCNKI_HUMAN	V	23	ENSP00000334650:G23V	ENSP00000334650:G23V	G	+	2	0	KCNK18	118947057	0.131000	0.22433	0.432000	0.26747	0.057000	0.15508	1.872000	0.39549	1.350000	0.45770	0.561000	0.74099	GGC		0.632	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		4	49	1	0	1.23904e-05	0.000602	1.80687e-05	4	49				
PDZD8	118987	broad.mit.edu	37	10	119043175	119043175	+	Silent	SNP	C	C	A	rs147188948		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:119043175C>A	ENST00000334464.5	-	5	3308	c.3069G>T	c.(3067-3069)ctG>ctT	p.L1023L	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1023					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.L1023L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGCCCCTGTACAGATCACGAC	0.418																																							uc001lde.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(3067-3069)CTG>CTT		PDZ domain containing 8							139.0	142.0	141.0					10																	119043175		2203	4300	6503	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119043175C>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.3069G>T	10.37:g.119043175C>A							p.L1023L	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3268	-		Colorectal(252;0.19)	1023					Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.3069G>T	CCDS7600.1																																																																																				0.418	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		9	118	1	0	1.12685e-05	0.004482	1.66247e-05	9	118				
CPXM2	119587	broad.mit.edu	37	10	125506513	125506513	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:125506513G>T	ENST00000241305.3	-	14	2192	c.2038C>A	c.(2038-2040)Cgc>Agc	p.R680S	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	680					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R680S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTCAGGAGGCGCCAGTAATCC	0.547																																							uc001lhk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2038-2040)CGC>AGC		carboxypeptidase X (M14 family), member 2							160.0	167.0	165.0					10																	125506513		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506513G>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2038C>A	10.37:g.125506513G>T	ENSP00000241305:p.Arg680Ser					CPXM2_uc001lhj.2_Intron	p.R680S	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2363	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	680					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.2038C>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332506	0.81801	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.41758	0.99	4.74	4.74	0.60224	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	M	0.84219	2.685	0.80722	D	1	P	0.41366	0.747	P	0.54706	0.759	T	0.67067	-0.5764	10	0.87932	D	0	-24.9878	12.9624	0.58466	0.0:0.0:0.8383:0.1617	.	680	Q8N436	CPXM2_HUMAN	S	680;513;655	ENSP00000241305:R680S	ENSP00000241305:R680S	R	-	1	0	CPXM2	125496503	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.661000	0.83786	2.445000	0.82738	0.655000	0.94253	CGC		0.547	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		9	153	1	0	0.00010058	0.001368	0.00013651	9	153				
CFAP46	54777	broad.mit.edu	37	10	134623993	134623993	+	Splice_Site	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:134623993T>A	ENST00000368586.5	-	57	7684	c.7584A>T	c.(7582-7584)agA>agT	p.R2528S	TTC40_ENST00000263170.5_Splice_Site_p.R689S	NM_001200049.2	NP_001186978.2												p.R2528S(1)|p.R689S(1)|p.N157I(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGCCAACAGATCTAGGGGAGA	0.627																																							uc010qux.1		NA																	3	Substitution - Missense(3)		lung(3)		NA						c.(6760-6762)AGA>AGT		Homo sapiens cDNA, FLJ17989.							68.0	56.0	60.0					10																	134623993		2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr10:134623993T>A																												ENST00000368586.5:c.7584-1A>T	10.37:g.134623993T>A							p.R2254S	NM_017609	NP_060079					49	6762	-									Missense_Mutation	SNP	ENST00000368586.5	37	c.6762A>T	CCDS58101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.54|13.54	2.267860|2.267860	0.40095|0.40095	.|.	.|.	ENSG00000171811|ENSG00000171811	ENST00000435957|ENST00000368586;ENST00000263170	.|T;T	.|0.26373	.|1.74;1.74	2.98|2.98	2.98|2.98	0.34508|0.34508	.|.	.|0.513303	.|0.16653	.|N	.|0.205147	T|T	0.36110|0.36110	0.0955|0.0955	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.78314	.|0.991	T|T	0.37079|0.37079	-0.9721|-0.9721	6|10	0.72032|0.02654	D|T	0.01|1	.|.	9.3455|9.3455	0.38107|0.38107	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|689	.|Q8IYW2	.|CJ092_HUMAN	I|S	157|2528;689	.|ENSP00000357575:R2528S;ENSP00000263170:R689S	ENSP00000396731:N157I|ENSP00000263170:R689S	N|R	-|-	2|3	0|2	C10orf93|C10orf93	134473983|134473983	0.572000|0.572000	0.26668|0.26668	0.406000|0.406000	0.26421|0.26421	0.029000|0.029000	0.11900|0.11900	0.183000|0.183000	0.16919|0.16919	1.629000|1.629000	0.50426|0.50426	0.482000|0.482000	0.46254|0.46254	AAT|AGA		0.627	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		Missense_Mutation	6	29	0	0	0	0.001168	0	6	29				
KRTAP5-4	387267	broad.mit.edu	37	11	1643105	1643105	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:1643105G>T	ENST00000399682.1	-	1	263	c.219C>A	c.(217-219)tcC>tcA	p.S73S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.S73S(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCCCACAGGAGCCACAGC	0.667																																							uc009ycy.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(355-357)TCC>TCA		keratin associated protein 5-4							7.0	15.0	12.0					11																	1643105		657	1539	2196	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643105G>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.219C>A	11.37:g.1643105G>T							p.S119S	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	444	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	133			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.357C>A																																																																																					0.667	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		6	76	1	0	6.5536e-12	0.00308	1.22047e-11	6	76				
OR52K2	119774	broad.mit.edu	37	11	4470650	4470650	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:4470650C>A	ENST00000325719.4	+	1	126	c.81C>A	c.(79-81)atC>atA	p.I27I	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I27I(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTGCACATCTGGATCTCCA	0.517																																							uc001lyz.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(79-81)ATC>ATA		olfactory receptor, family 52, subfamily K,							160.0	138.0	145.0					11																	4470650		2201	4298	6499	SO:0001819	synonymous_variant	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4470650C>A	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.81C>A	11.37:g.4470650C>A							p.I27I	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	81	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	27			Extracellular (Potential).		A8MUY8|B2RP35|Q6IFK4	Silent	SNP	ENST00000325719.4	37	c.81C>A	CCDS31351.1																																																																																				0.517	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		8	57	1	0	5.4927e-09	0.004482	9.52628e-09	8	57				
OR51T1	401665	broad.mit.edu	37	11	4904034	4904034	+	Missense_Mutation	SNP	G	G	T	rs151076376	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:4904034G>T	ENST00000322049.1	+	1	905	c.905G>T	c.(904-906)cGc>cTc	p.R302L	OR51T1_ENST00000380378.1_Missense_Mutation_p.R329L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483																																							uc010qyp.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(985-987)CGC>CTC		olfactory receptor, family 51, subfamily T,							93.0	88.0	90.0					11																	4904034		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904034G>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.905G>T	11.37:g.4904034G>T	ENSP00000322679:p.Arg302Leu						p.R329L	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	986	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	302			Cytoplasmic (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.986G>T		.	.	.	.	.	.	.	.	.	.	G	19.71	3.878061	0.72294	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.57595	0.39;0.39	4.97	4.04	0.47022	.	0.322556	0.22730	N	0.056338	T	0.29783	0.0744	N	0.08118	0	0.41372	D	0.987495	P	0.44090	0.826	B	0.35607	0.206	T	0.38650	-0.9651	10	0.87932	D	0	.	12.5266	0.56089	0.0833:0.0:0.9167:0.0	.	302	Q8NGJ9	O51T1_HUMAN	L	329;302	ENSP00000369738:R329L;ENSP00000322679:R302L	ENSP00000322679:R302L	R	+	2	0	OR51T1	4860610	0.001000	0.12720	0.947000	0.38551	0.992000	0.81027	0.506000	0.22658	2.595000	0.87683	0.491000	0.48974	CGC		0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		5	54	1	0	0.000602214	0.000602	0.000754262	5	54				
OR52A1	23538	broad.mit.edu	37	11	5173072	5173072	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:5173072G>T	ENST00000380367.1	-	2	945	c.528C>A	c.(526-528)gtC>gtA	p.V176V	OR52A1_ENST00000328942.1_Silent_p.V176V			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	176					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.V176V(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGGGAGATGACTGTTGTGT	0.433																																							uc010qyy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(526-528)GTC>GTA		olfactory receptor, family 52, subfamily A,							152.0	149.0	150.0					11																	5173072		2201	4298	6499	SO:0001819	synonymous_variant	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173072G>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.528C>A	11.37:g.5173072G>T							p.V176V	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	528	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	176			Extracellular (Potential).		Q6IF31	Silent	SNP	ENST00000380367.1	37	c.528C>A	CCDS31374.1																																																																																				0.433	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		4	53	1	0	0.00024832	0.000248	0.000325365	4	53				
TRIM22	10346	broad.mit.edu	37	11	5729478	5729478	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:5729478G>T	ENST00000379965.3	+	6	1126	c.849G>T	c.(847-849)ctG>ctT	p.L283L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	283	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L283L(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TACCAGATCTGAGTGGGATGC	0.423																																					GBM(104;491 2336 5222)	GBM(104;491 2336 5222)	uc001mbr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(847-849)CTG>CTT		tripartite motif-containing 22							111.0	104.0	106.0					11																	5729478		1881	4126	6007	SO:0001819	synonymous_variant	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5729478G>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.849G>T	11.37:g.5729478G>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Silent_p.L251L|TRIM22_uc009yes.2_Silent_p.L279L|TRIM22_uc010qzm.1_Silent_p.L111L|TRIM22_uc009yeu.2_Silent_p.L94L|OR56B1_uc001mbs.1_5'UTR|OR56B1_uc009yev.1_5'UTR	p.L283L	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	6	1126	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	283			B30.2/SPRY.		Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	c.849G>T	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	1.578	-0.532470	0.04112	.	.	ENSG00000132274	ENST00000429063;ENST00000444844	.	.	.	4.06	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7476	0.23470	0.1916:0.1516:0.6568:0.0	.	.	.	.	L	14	.	.	X	+	2	2	TRIM22	5686054	0.132000	0.22450	0.003000	0.11579	0.007000	0.05969	1.292000	0.33342	-0.102000	0.12197	-1.946000	0.00489	TGA		0.423	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		5	26	1	0	0.000602214	0.000602	0.000754262	5	26				
OR56B1	387748	broad.mit.edu	37	11	5758676	5758676	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:5758676C>A	ENST00000317121.3	+	1	996	c.930C>A	c.(928-930)gcC>gcA	p.A310A	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A310A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTAGGGCAGCCTTCCAAAAGG	0.418																																							uc001mbt.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(928-930)GCC>GCA		olfactory receptor, family 56, subfamily B,							166.0	159.0	161.0					11																	5758676		2201	4297	6498	SO:0001819	synonymous_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758676C>A	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.930C>A	11.37:g.5758676C>A						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.A310A	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	930	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	310			Cytoplasmic (Potential).		B2RNY6|B3KV42|Q6IF76	Silent	SNP	ENST00000317121.3	37	c.930C>A	CCDS31395.1																																																																																				0.418	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		21	139	1	0	5.26018e-13	0.001882	9.9759e-13	21	139				
OR52N5	390075	broad.mit.edu	37	11	5799256	5799256	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:5799256G>T	ENST00000317093.2	-	1	641	c.609C>A	c.(607-609)gtC>gtA	p.V203V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V203V(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		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)		AGATTACATTGACCTTGATGC	0.423																																							uc010qzn.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(607-609)GTC>GTA		olfactory receptor, family 52, subfamily N,							154.0	134.0	141.0					11																	5799256		2123	4088	6211	SO:0001819	synonymous_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799256G>T	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.609C>A	11.37:g.5799256G>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.V203V	NM_001001922	NP_001001922	Q8NH56	O52N5_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	609	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	203			Extracellular (Potential).		B9EH12|Q6IFG2	Silent	SNP	ENST00000317093.2	37	c.609C>A	CCDS31397.1																																																																																				0.423	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		7	53	1	0	0.000274275	0.004482	0.000355681	7	53				
HPX	3263	broad.mit.edu	37	11	6461961	6461961	+	Splice_Site	SNP	C	C	G	rs113971031		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:6461961C>G	ENST00000265983.3	-	2	184		c.e2-1		HPX_ENST00000525057.1_Splice_Site	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin						cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)	p.?(1)		endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGCACTAGTCCTAGGGAGAAC	0.517																																							uc001mdg.2		NA																	1	Unknown(1)		lung(1)		0						c.e2-1		hemopexin precursor							139.0	136.0	137.0					11																	6461961		2201	4296	6497	SO:0001630	splice_region_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6461961C>G	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.84-1G>C	11.37:g.6461961C>G						HPX_uc009yfc.2_Splice_Site|HPX_uc010rai.1_Splice_Site_p.P28_splice	p.P28_splice	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	2	145	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)						B2R957	Splice_Site	SNP	ENST00000265983.3	37	c.84_splice	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	0.698	-0.791913	0.02884	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	.	.	.	4.22	2.22	0.28083	.	.	.	.	.	.	.	.	.	.	.	0.24129	N	0.995776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4615	0.11668	0.2238:0.6579:0.0:0.1183	.	.	.	.	.	-1	.	.	.	-	.	.	HPX	6418537	0.766000	0.28496	0.173000	0.22940	0.189000	0.23516	1.995000	0.40767	0.847000	0.35167	0.305000	0.20034	.		0.517	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613	Intron	4	44	0	0	0	0.000248	0	4	44				
OR2D3	120775	broad.mit.edu	37	11	6942649	6942649	+	Silent	SNP	T	T	C	rs146817618		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:6942649T>C	ENST00000317834.3	+	1	445	c.417T>C	c.(415-417)taT>taC	p.Y139Y		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y139Y(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGACCGGTATGTGGCTGTCT	0.502																																							uc010rav.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)TAT>TAC		olfactory receptor, family 2, subfamily D,							159.0	144.0	149.0					11																	6942649		2201	4296	6497	SO:0001819	synonymous_variant	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942649T>C	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.417T>C	11.37:g.6942649T>C							p.Y139Y	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	417	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	139			Cytoplasmic (Potential).		B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	c.417T>C	CCDS31417.1																																																																																				0.502	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		6	91	0	0	0	0.00308	0	6	91				
OR5P3	120066	broad.mit.edu	37	11	7847205	7847205	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:7847205C>T	ENST00000328375.1	-	1	314	c.315G>A	c.(313-315)gtG>gtA	p.V105V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V105V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACCAAACGTCACTACAGAAC	0.552																																							uc010rbg.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(313-315)GTG>GTA		olfactory receptor, family 5, subfamily P,							159.0	155.0	156.0					11																	7847205		2186	4296	6482	SO:0001819	synonymous_variant	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847205C>T	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.315G>A	11.37:g.7847205C>T							p.V105V	NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	315	-			105			Helical; Name=3; (Potential).		Q6IFE1|Q8NGM2	Silent	SNP	ENST00000328375.1	37	c.315G>A	CCDS7783.1																																																																																				0.552	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		4	73	0	0	0	0.000602	0	4	73				
RIC3	79608	broad.mit.edu	37	11	8158923	8158923	+	Splice_Site	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:8158923A>T	ENST00000309737.6	-	4	521		c.e4+1		RIC3_ENST00000530060.1_Splice_Site|RIC3_ENST00000343202.4_Splice_Site|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000539720.1_Splice_Site|RIC3_ENST00000335425.7_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone						cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATGAAAACCTACCTCTCACCA	0.453																																							uc001mgd.2		NA																	1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.e4+1		resistance to inhibitors of cholinesterase 3							187.0	173.0	178.0					11																	8158923		2201	4296	6497	SO:0001630	splice_region_variant	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8158923A>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.521+1T>A	11.37:g.8158923A>T						RIC3_uc001mgb.2_Splice_Site|RIC3_uc001mgc.2_Splice_Site_p.R174_splice|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Splice_Site_p.S124_splice|RIC3_uc010rbm.1_Splice_Site_p.S174_splice|RIC3_uc009yfm.2_Intron|RIC3_uc009yfn.2_Intron	p.S174_splice	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	4	575	-								B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Splice_Site	SNP	ENST00000309737.6	37	c.521_splice	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795227	0.70452	.	.	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000531450	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.471	0.75439	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RIC3	8115499	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.002000	0.76304	2.126000	0.65437	0.482000	0.46254	.		0.453	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557	Intron	20	69	0	0	0	0.007413	0	20	69				
HPS5	11234	broad.mit.edu	37	11	18313051	18313051	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:18313051C>A	ENST00000349215.3	-	16	2655	c.2378G>T	c.(2377-2379)aGt>aTt	p.S793I	HPS5_ENST00000438420.2_Missense_Mutation_p.S679I|HPS5_ENST00000396253.3_Missense_Mutation_p.S679I|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	793					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.S793I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AAGCTTGATACTCTCCTTCGC	0.388									Hermansky-Pudlak syndrome																														uc001mod.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2377-2379)AGT>ATT		Hermansky-Pudlak syndrome 5 isoform a							64.0	61.0	62.0					11																	18313051		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18313051C>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2378G>T	11.37:g.18313051C>A	ENSP00000265967:p.Ser793Ile					HPS5_uc001moe.1_Missense_Mutation_p.S679I|HPS5_uc001mof.1_Missense_Mutation_p.S679I	p.S793I	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			16	2656	-			793					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.2378G>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674910	0.47781	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.80566	-1.39;-1.39;-1.39	5.56	4.63	0.57726	.	0.258524	0.49916	D	0.000130	T	0.76856	0.4046	L	0.51422	1.61	0.80722	D	1	B	0.19706	0.038	B	0.17979	0.02	T	0.72701	-0.4214	10	0.44086	T	0.13	.	15.9151	0.79508	0.136:0.864:0.0:0.0	.	793	Q9UPZ3	HPS5_HUMAN	I	679;679;793	ENSP00000379552:S679I;ENSP00000399590:S679I;ENSP00000265967:S793I	ENSP00000265967:S793I	S	-	2	0	HPS5	18269627	1.000000	0.71417	0.988000	0.46212	0.930000	0.56654	2.884000	0.48562	1.309000	0.44985	0.655000	0.94253	AGT		0.388	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		5	27	1	0	0.000602214	0.000602	0.000754262	5	27				
KIF18A	81930	broad.mit.edu	37	11	28098612	28098612	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:28098612T>C	ENST00000263181.6	-	10	1657	c.1367A>G	c.(1366-1368)tAc>tGc	p.Y456C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	456					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 metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.Y456C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CTGTTGTTGGTAGAATGATTT	0.274																																							uc001msc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1366-1368)TAC>TGC		kinesin family member 18A							88.0	81.0	84.0					11																	28098612		2201	4293	6494	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28098612T>C	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1367A>G	11.37:g.28098612T>C	ENSP00000263181:p.Tyr456Cys						p.Y456C	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			10	1549	-			456					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1367A>G	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955221	0.73902	.	.	ENSG00000121621	ENST00000263181	T	0.74002	-0.8	5.82	5.82	0.92795	.	0.055135	0.85682	D	0.000000	D	0.82976	0.5154	M	0.66939	2.045	0.47949	D	0.99955	D	0.69078	0.997	P	0.60345	0.873	D	0.83402	0.0023	10	0.46703	T	0.11	.	16.1685	0.81786	0.0:0.0:0.0:1.0	.	456	Q8NI77	KI18A_HUMAN	C	456	ENSP00000263181:Y456C	ENSP00000263181:Y456C	Y	-	2	0	KIF18A	28055188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.214000	0.72200	2.225000	0.72522	0.528000	0.53228	TAC		0.274	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		10	42	0	0	0	0.006214	0	10	42				
CCDC73	493860	broad.mit.edu	37	11	32636435	32636435	+	Nonsense_Mutation	SNP	G	G	A	rs537260612		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:32636435G>A	ENST00000335185.5	-	16	1472	c.1429C>T	c.(1429-1431)Cag>Tag	p.Q477*	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	477								p.Q477*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTTCATCCTGAGAAACAACA	0.328													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16573	0.0		0.0	False		,,,				2504	0.0						uc001mtv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1429-1431)CAG>TAG		sarcoma antigen NY-SAR-79							75.0	71.0	72.0					11																	32636435		1816	4064	5880	SO:0001587	stop_gained	493860							g.chr11:32636435G>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1429C>T	11.37:g.32636435G>A	ENSP00000335325:p.Gln477*						p.Q477*	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			16	1473	-	Breast(20;0.112)		477					Q6P5Q7|Q6ZMW0|Q86WE7	Nonsense_Mutation	SNP	ENST00000335185.5	37	c.1429C>T	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748063	0.89663	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.55	5.55	0.83447	.	0.281001	0.25094	N	0.033182	.	.	.	.	.	.	0.33917	D	0.64044	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	8.5806	0.33626	0.1302:0.0:0.8698:0.0	.	.	.	.	X	477	.	ENSP00000335325:Q477X	Q	-	1	0	CCDC73	32593011	0.000000	0.05858	0.870000	0.34147	0.880000	0.50808	0.638000	0.24674	2.602000	0.87976	0.591000	0.81541	CAG		0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		3	51	0	0	0	0.004672	0	3	51				
LRP4	4038	broad.mit.edu	37	11	46894697	46894697	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:46894697C>A	ENST00000378623.1	-	30	4779	c.4537G>T	c.(4537-4539)Gac>Tac	p.D1513Y	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1513					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.D1513Y(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAACCCAGGTCTGTGTTGATG	0.547																																							uc001ndn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(4537-4539)GAC>TAC		low density lipoprotein receptor-related protein							129.0	116.0	120.0					11																	46894697		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46894697C>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4537G>T	11.37:g.46894697C>A	ENSP00000367888:p.Asp1513Tyr					uc001ndl.2_RNA	p.D1513Y	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	30	4683	-			1513			Extracellular (Potential).|LDL-receptor class B 18.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4537G>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889003	0.72524	.	.	ENSG00000134569	ENST00000378623	D	0.97232	-4.3	5.91	5.0	0.66597	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.74467	2.265	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.98664	1.0685	10	0.87932	D	0	.	12.9148	0.58200	0.0:0.8664:0.0:0.1336	.	1513	O75096	LRP4_HUMAN	Y	1513	ENSP00000367888:D1513Y	ENSP00000367888:D1513Y	D	-	1	0	LRP4	46851273	0.980000	0.34600	1.000000	0.80357	0.972000	0.66771	2.573000	0.46007	1.509000	0.48786	-0.136000	0.14681	GAC		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		9	48	1	0	3.09899e-07	0.004482	4.96537e-07	9	48				
LRP4	4038	broad.mit.edu	37	11	46898324	46898325	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:46898324_46898325CC>AA	ENST00000378623.1	-	24	3576_3577	c.3334_3335GG>TT	c.(3334-3336)GGc>TTc	p.G1112F	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1112					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.G1112F(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATGCTGTGAGCCATCCAGATTG	0.559																																							uc001ndn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3334-3336)GGC>TTC		low density lipoprotein receptor-related protein																																				SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46898324_46898325CC>AA	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3334_3335delinsAA	11.37:g.46898324_46898325delinsAA	ENSP00000367888:p.Gly1112Phe						p.G1112F	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	24	3480_3481	-			1112			Extracellular (Potential).|LDL-receptor class B 11.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	DNP	ENST00000378623.1	37	c.3334_3335GG>TT	CCDS31478.1																																																																																				0.559	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		4	94	0	0	0	0.004672	0	4	94				
LRP4	4038	broad.mit.edu	37	11	46920180	46920180	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:46920180A>G	ENST00000378623.1	-	7	967	c.725T>C	c.(724-726)cTg>cCg	p.L242P		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	242	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.L242P(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTGATGCACAGGCCACTGTC	0.577																																							uc001ndn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(724-726)CTG>CCG		low density lipoprotein receptor-related protein							162.0	154.0	157.0					11																	46920180		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46920180A>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.725T>C	11.37:g.46920180A>G	ENSP00000367888:p.Leu242Pro					LRP4_uc009ylh.1_Missense_Mutation_p.L193P	p.L242P	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	7	871	-			242			Extracellular (Potential).|LDL-receptor class A 6.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.725T>C	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.386920	0.61956	.	.	ENSG00000134569	ENST00000378623	D	0.95412	-3.7	5.37	5.37	0.77165	.	0.070088	0.56097	D	0.000022	D	0.93318	0.7870	L	0.31664	0.95	0.80722	D	1	D;P	0.55385	0.971;0.749	P;P	0.49192	0.602;0.53	D	0.92497	0.6005	10	0.30854	T	0.27	.	15.3761	0.74607	1.0:0.0:0.0:0.0	.	287;242	C9JRN7;O75096	.;LRP4_HUMAN	P	242	ENSP00000367888:L242P	ENSP00000367888:L242P	L	-	2	0	LRP4	46876756	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.327000	0.79147	2.047000	0.60756	0.459000	0.35465	CTG		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	120	0	0	0	0.008291	0	8	120				
C1QTNF4	114900	broad.mit.edu	37	11	47611633	47611633	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:47611633A>T	ENST00000302514.3	-	2	1246	c.730T>A	c.(730-732)Tcg>Acg	p.S244T		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	244	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)		p.S244T(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						AGCTTAACCGACAGCGTCTTA	0.667																																							uc001ngc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(730-732)TCG>ACG		C1q and tumor necrosis factor related protein 4							22.0	26.0	25.0					11																	47611633		2189	4297	6486	SO:0001583	missense	114900					extracellular region		g.chr11:47611633A>T	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.730T>A	11.37:g.47611633A>T	ENSP00000302274:p.Ser244Thr						p.S244T	NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN			2	997	-			244			C1q 2.		Q8IV25	Missense_Mutation	SNP	ENST00000302514.3	37	c.730T>A	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.875980	0.72180	.	.	ENSG00000172247	ENST00000302514	D	0.85702	-2.02	4.44	4.44	0.53790	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	U	0.000001	D	0.89784	0.6815	M	0.62209	1.925	0.49582	D	0.999805	D	0.89917	1.0	D	0.81914	0.995	D	0.87639	0.2521	10	0.22706	T	0.39	.	13.9975	0.64411	1.0:0.0:0.0:0.0	.	244	Q9BXJ3	C1QT4_HUMAN	T	244	ENSP00000302274:S244T	ENSP00000302274:S244T	S	-	1	0	C1QTNF4	47568209	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.105000	0.77031	1.747000	0.51819	0.379000	0.24179	TCG		0.667	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		4	23	0	0	0	0.000248	0	4	23				
OR4C16	219428	broad.mit.edu	37	11	55340095	55340095	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55340095G>T	ENST00000314634.3	+	1	492	c.492G>T	c.(490-492)ttG>ttT	p.L164F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L164F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCCTGAGTTTGCCATTCTGTG	0.478																																							uc010rih.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(490-492)TTG>TTT		olfactory receptor, family 4, subfamily C,							128.0	118.0	122.0					11																	55340095		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340095G>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.492G>T	11.37:g.55340095G>T	ENSP00000324913:p.Leu164Phe						p.L164F	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	492	+		all_epithelial(135;0.0748)	164			Extracellular (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.492G>T	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395998	0.42512	.	.	ENSG00000181935	ENST00000314634	T	0.00253	8.43	4.98	0.426	0.16479	GPCR, rhodopsin-like superfamily (1);	0.138214	0.33364	N	0.004994	T	0.00468	0.0015	M	0.84585	2.705	0.09310	N	1	B	0.31989	0.35	P	0.50825	0.651	T	0.06391	-1.0829	10	0.72032	D	0.01	.	10.9225	0.47174	0.2515:0.0:0.7485:0.0	.	164	Q8NGL9	OR4CG_HUMAN	F	164	ENSP00000324913:L164F	ENSP00000324913:L164F	L	+	3	2	OR4C16	55096671	0.000000	0.05858	0.167000	0.22817	0.868000	0.49771	-2.150000	0.01290	-0.063000	0.13065	0.549000	0.68633	TTG		0.478	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		11	96	1	0	5.50884e-06	0.001368	8.26689e-06	11	96				
OR5L2	26338	broad.mit.edu	37	11	55595294	55595294	+	Missense_Mutation	SNP	C	C	A	rs185746996		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55595294C>A	ENST00000378397.1	+	1	600	c.600C>A	c.(598-600)ttC>ttA	p.F200L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F200L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACTGCTGTTCCTGGTGGCCA	0.448										HNSCC(27;0.073)																													uc001nhy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)TTC>TTA		olfactory receptor, family 5, subfamily L,							246.0	208.0	221.0					11																	55595294		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595294C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.600C>A	11.37:g.55595294C>A	ENSP00000367650:p.Phe200Leu	HNSCC(27;0.073)					p.F200L	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	600	+		all_epithelial(135;0.208)	200			Helical; Name=5; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.600C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	4.681	0.126540	0.08931	.	.	ENSG00000205030	ENST00000378397	T	0.00042	8.84	5.24	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.702791	0.12978	N	0.423553	T	0.00109	0.0003	L	0.31526	0.94	0.09310	N	1	B	0.14805	0.011	B	0.20577	0.03	T	0.05451	-1.0884	10	0.30078	T	0.28	-16.3048	7.4494	0.27229	0.0:0.6443:0.0:0.3557	.	200	Q8NGL0	OR5L2_HUMAN	L	200	ENSP00000367650:F200L	ENSP00000367650:F200L	F	+	3	2	OR5L2	55351870	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.040000	0.13905	0.293000	0.22520	0.632000	0.83419	TTC		0.448	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		14	157	1	0	1.49906e-05	0.00245	2.17766e-05	14	157				
OR5F1	338674	broad.mit.edu	37	11	55761380	55761380	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55761380C>A	ENST00000278409.1	-	1	721	c.722G>T	c.(721-723)tGt>tTt	p.C241F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	241					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.C241F(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGAGAGGCACACGTGGAGAA	0.507																																							uc010riv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(721-723)TGT>TTT		olfactory receptor, family 5, subfamily F,							81.0	76.0	78.0					11																	55761380		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761380C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.722G>T	11.37:g.55761380C>A	ENSP00000278409:p.Cys241Phe						p.C241F	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	722	-	Esophageal squamous(21;0.00448)		241			Helical; Name=6; (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.722G>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	c	10.45	1.353151	0.24512	.	.	ENSG00000149133	ENST00000278409	T	0.00368	7.75	2.99	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01523	0.0049	H	0.97758	4.07	0.38108	D	0.937485	D	0.89917	1.0	D	0.97110	1.0	T	0.28396	-1.0045	9	0.87932	D	0	.	9.0897	0.36603	0.0:0.883:0.0:0.117	.	241	O95221	OR5F1_HUMAN	F	241	ENSP00000278409:C241F	ENSP00000278409:C241F	C	-	2	0	OR5F1	55517956	0.451000	0.25705	0.155000	0.22561	0.055000	0.15305	1.515000	0.35845	0.404000	0.25506	-0.723000	0.03601	TGT		0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		4	37	1	0	0.000602214	0.000602	0.000754262	4	37				
OR8J3	81168	broad.mit.edu	37	11	55904510	55904510	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55904510G>C	ENST00000301529.1	-	1	684	c.685C>G	c.(685-687)Cgt>Ggt	p.R229G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R229S(1)|p.R229G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TCTGGTGAACGTATCCTTAGA	0.363																																							uc010riz.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(685-687)CGT>GGT		olfactory receptor, family 8, subfamily J,							99.0	94.0	95.0					11																	55904510		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904510G>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.685C>G	11.37:g.55904510G>C	ENSP00000301529:p.Arg229Gly						p.R229G	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	685	-	Esophageal squamous(21;0.00693)		229			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.685C>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	1.949	-0.441674	0.04604	.	.	ENSG00000167822	ENST00000301529	T	0.39056	1.1	3.27	-0.033	0.13902	GPCR, rhodopsin-like superfamily (1);	0.402874	0.24590	N	0.037233	T	0.29028	0.0721	L	0.50993	1.605	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.25047	-1.0143	10	0.66056	D	0.02	.	1.408	0.02285	0.1994:0.1549:0.4586:0.1872	.	229	Q8NGG0	OR8J3_HUMAN	G	229	ENSP00000301529:R229G	ENSP00000301529:R229G	R	-	1	0	OR8J3	55661086	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.366000	0.07563	0.012000	0.14892	-0.707000	0.03653	CGT		0.363	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		9	52	0	0	0	0.004482	0	9	52				
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Silent	SNP	G	G	T	rs147577134		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55927529G>T	ENST00000313447.1	-	1	264	c.265C>A	c.(265-267)Cga>Aga	p.R89R		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R89R(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393																																							uc010rja.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(265-267)CGA>AGA		olfactory receptor, family 8, subfamily K,							99.0	98.0	99.0					11																	55927529		2201	4296	6497	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927529G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.265C>A	11.37:g.55927529G>T							p.R89R	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	265	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	89			Extracellular (Potential).		Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.265C>A	CCDS31521.1																																																																																				0.393	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		8	68	1	0	7.48243e-07	0.006214	1.17892e-06	8	68				
OR5T3	390154	broad.mit.edu	37	11	56020511	56020511	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:56020511C>A	ENST00000303059.3	+	1	836	c.836C>A	c.(835-837)aCa>aAa	p.T279K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T279K(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACTGGAGTGACAATTTATCAT	0.393																																							uc010rjd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(835-837)ACA>AAA		olfactory receptor, family 5, subfamily T,							188.0	169.0	175.0					11																	56020511		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020511C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.836C>A	11.37:g.56020511C>A	ENSP00000305403:p.Thr279Lys						p.T279K	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	836	+	Esophageal squamous(21;0.00448)		279			Helical; Name=6; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.836C>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	6.828	0.521971	0.13005	.	.	ENSG00000172489	ENST00000303059	T	0.39997	1.05	4.46	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.367267	0.19721	N	0.107594	T	0.49253	0.1546	M	0.92459	3.31	0.09310	N	1	B	0.34255	0.445	B	0.36030	0.216	T	0.55023	-0.8205	10	0.87932	D	0	.	4.9807	0.14164	0.1375:0.5229:0.2592:0.0804	.	279	Q8NGG3	OR5T3_HUMAN	K	279	ENSP00000305403:T279K	ENSP00000305403:T279K	T	+	2	0	OR5T3	55777087	0.000000	0.05858	0.005000	0.12908	0.090000	0.18270	-0.631000	0.05496	1.210000	0.43336	0.643000	0.83706	ACA		0.393	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		15	97	1	0	2.31682e-05	0.003163	3.32732e-05	15	97				
OR9G1	390174	broad.mit.edu	37	11	56468180	56468180	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:56468180T>G	ENST00000312153.1	+	1	317	c.317T>G	c.(316-318)cTg>cGg	p.L106R		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCTGCAGGGCTGGCCTATAGT	0.537																																							uc010rjn.1		NA																	0					0						c.(316-318)CTG>CGG		olfactory receptor, family 9, subfamily G,							114.0	110.0	112.0					11																	56468180		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468180T>G	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.317T>G	11.37:g.56468180T>G	ENSP00000309012:p.Leu106Arg						p.L106R	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	317	+			106			Helical; Name=3; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.317T>G	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294852	0.40594	.	.	ENSG00000174914	ENST00000312153	T	0.03635	3.86	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000757	T	0.23014	0.0556	H	0.95884	3.735	0.27829	N	0.941513	D	0.89917	1.0	D	0.91635	0.999	T	0.36456	-0.9747	10	0.87932	D	0	-14.1054	5.0885	0.14696	0.0:0.2344:0.0:0.7656	.	106	Q8NH87	OR9G1_HUMAN	R	106	ENSP00000309012:L106R	ENSP00000309012:L106R	L	+	2	0	OR9G1	56224756	0.000000	0.05858	0.945000	0.38365	0.436000	0.31835	0.430000	0.21428	2.013000	0.59113	0.477000	0.44152	CTG		0.537	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		5	74	0	0	0	0.000602	0	5	74				
OR6Q1	219952	broad.mit.edu	37	11	57799343	57799343	+	Nonsense_Mutation	SNP	C	C	T	rs185813462	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:57799343C>T	ENST00000302622.3	+	1	942	c.919C>T	c.(919-921)Cga>Tga	p.R307*	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R307*(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)				AGCTCTGGGTCGAGTCTTTTC	0.453													C|||	2	0.000399361	0.0	0.0	5008	,	,		21371	0.002		0.0	False		,,,				2504	0.0						uc010rjz.1		NA																	1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(919-921)CGA>TGA		olfactory receptor, family 6, subfamily Q,							56.0	59.0	58.0					11																	57799343		2192	4273	6465	SO:0001587	stop_gained	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799343C>T	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.919C>T	11.37:g.57799343C>T	ENSP00000307734:p.Arg307*					OR9Q1_uc001nmj.2_Intron	p.R307*	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	919	+		Breast(21;0.0707)|all_epithelial(135;0.142)	307			Cytoplasmic (Potential).		B9EKW1|Q6IFH1|Q96R34	Nonsense_Mutation	SNP	ENST00000302622.3	37	c.919C>T	CCDS31541.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.259	-0.369720	0.05069	.	.	ENSG00000172381	ENST00000302622	.	.	.	4.15	-8.29	0.01009	.	0.216134	0.22676	N	0.057003	.	.	.	.	.	.	0.32042	N	0.59817	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	12.0278	0.53382	0.6976:0.212:0.0904:0.0	.	.	.	.	X	307	.	ENSP00000307734:R307X	R	+	1	2	OR6Q1	57555919	0.008000	0.16893	0.065000	0.19835	0.141000	0.21300	-1.083000	0.03397	-1.742000	0.01342	-2.256000	0.00281	CGA		0.453	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		4	59	0	0	0	0.000248	0	4	59				
OR5B12	390191	broad.mit.edu	37	11	58207590	58207590	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:58207590A>T	ENST00000302572.2	-	1	56	c.35T>A	c.(34-36)cTt>cAt	p.L12H		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L12H(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAACCCCACAAGGATGAATTC	0.448																																							uc010rkh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CTT>CAT		olfactory receptor, family 5, subfamily B,							87.0	97.0	94.0					11																	58207590		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207590A>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.35T>A	11.37:g.58207590A>T	ENSP00000306657:p.Leu12His						p.L12H	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	35	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	12			Extracellular (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.35T>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.635588	0.29068	.	.	ENSG00000172362	ENST00000302572	T	0.00563	6.58	4.87	4.87	0.63330	.	0.201120	0.24927	N	0.034493	T	0.05547	0.0146	H	0.99273	4.495	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31503	-0.9941	10	0.87932	D	0	-6.9284	14.0816	0.64925	1.0:0.0:0.0:0.0	.	12	Q96R08	OR5BC_HUMAN	H	12	ENSP00000306657:L12H	ENSP00000306657:L12H	L	-	2	0	OR5B12	57964166	0.365000	0.25006	0.751000	0.31187	0.076000	0.17211	4.086000	0.57664	2.172000	0.68678	0.533000	0.62120	CTT		0.448	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		3	29	0	0	0	0.004672	0	3	29				
GLYATL2	219970	broad.mit.edu	37	11	58604651	58604651	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:58604651C>A	ENST00000287275.1	-	5	704		c.e5-1		GLYATL2_ENST00000533636.1_Splice_Site|GLYATL2_ENST00000532258.1_Splice_Site	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2							endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)	p.?(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCTTGGCAACCTGGAGAAAGG	0.403																																							uc001nnd.3		NA																	1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e5-1		glycine-N-acyltransferase-like 2	Glycine(DB00145)						165.0	143.0	150.0					11																	58604651		1874	4105	5979	SO:0001630	splice_region_variant	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604651C>A	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.314-1G>T	11.37:g.58604651C>A						GLYATL2_uc009ymq.2_Splice_Site_p.G105_splice	p.G105_splice	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN			5	445	-		Breast(21;0.0044)|all_epithelial(135;0.0216)						A5LGC7|Q86WC3|Q96AT2	Splice_Site	SNP	ENST00000287275.1	37	c.314_splice	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	c	11.07	1.530179	0.27387	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.46376	D	0.999018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5658	0.45171	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLYATL2	58361227	0.136000	0.22515	0.010000	0.14722	0.259000	0.26198	2.513000	0.45494	1.581000	0.49865	0.644000	0.83932	.		0.403	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016	Intron	9	74	1	0	1.12685e-05	0.004482	1.66247e-05	9	74				
OR4D6	219983	broad.mit.edu	37	11	59225169	59225169	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:59225169G>C	ENST00000300127.2	+	1	759	c.736G>C	c.(736-738)Gtg>Ctg	p.V246L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V246L(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						CCACATGCTGGTGGTGACTCT	0.552																																							uc010rku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(736-738)GTG>CTG		olfactory receptor, family 4, subfamily D,							119.0	108.0	112.0					11																	59225169		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225169G>C	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.736G>C	11.37:g.59225169G>C	ENSP00000300127:p.Val246Leu						p.V246L	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	736	+			246			Helical; Name=6; (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.736G>C	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031460	0.54790	.	.	ENSG00000166884	ENST00000300127	T	0.00216	8.53	6.01	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000199	T	0.01189	0.0039	H	0.99117	4.435	0.31067	N	0.713453	D	0.76494	0.999	D	0.73380	0.98	T	0.02431	-1.1160	10	0.87932	D	0	-19.1915	14.128	0.65235	0.0726:0.0:0.9274:0.0	.	246	Q8NGJ1	OR4D6_HUMAN	L	246	ENSP00000300127:V246L	ENSP00000300127:V246L	V	+	1	0	OR4D6	58981745	0.044000	0.20184	0.937000	0.37676	0.433000	0.31745	1.318000	0.33643	1.546000	0.49388	0.655000	0.94253	GTG		0.552	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		16	50	0	0	0	0.004007	0	16	50				
OR4D11	219986	broad.mit.edu	37	11	59271283	59271283	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:59271283C>T	ENST00000313253.1	+	1	235	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79S(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CACAACTGCTCCTAAAGTCTT	0.498																																							uc001noa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(235-237)CCT>TCT		olfactory receptor, family 4, subfamily D,							200.0	192.0	195.0					11																	59271283		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271283C>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.235C>T	11.37:g.59271283C>T	ENSP00000320077:p.Pro79Ser						p.P79S	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	235	+			79			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.235C>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228035	0.58777	.	.	ENSG00000176200	ENST00000313253	T	0.01854	4.6	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000113	T	0.23094	0.0558	H	0.97516	4.02	0.51482	D	0.999923	D	0.67145	0.996	D	0.67231	0.95	T	0.39761	-0.9598	10	0.87932	D	0	-44.3398	17.8479	0.88736	0.0:1.0:0.0:0.0	.	79	Q8NGI4	OR4DB_HUMAN	S	79	ENSP00000320077:P79S	ENSP00000320077:P79S	P	+	1	0	OR4D11	59027859	0.998000	0.40836	0.856000	0.33681	0.469000	0.32828	4.800000	0.62524	2.559000	0.86315	0.563000	0.77884	CCT		0.498	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		18	94	0	0	0	0.00499	0	18	94				
TCN1	6947	broad.mit.edu	37	11	59622151	59622151	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:59622151G>T	ENST00000257264.3	-	7	1199	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	365	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.A365A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCATTTTCTGGGCTTTCTCCA	0.378																																							uc001noj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1093-1095)GCC>GCA		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						142.0	129.0	133.0					11																	59622151		2201	4294	6495	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59622151G>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1095C>A	11.37:g.59622151G>T							p.A365A	NM_001062	NP_001053	P20061	TCO1_HUMAN			7	1193	-		all_epithelial(135;0.198)	365					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.1095C>A	CCDS7978.1																																																																																				0.378	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		5	68	1	0	0.00198382	0.001984	0.00238984	5	68				
MS4A7	58475	broad.mit.edu	37	11	60157028	60157028	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:60157028T>C	ENST00000300184.3	+	5	701	c.505T>C	c.(505-507)Tat>Cat	p.Y169H	MS4A7_ENST00000534016.1_Missense_Mutation_p.Y124H|MS4A7_ENST00000358246.1_Missense_Mutation_p.Y124H|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	169						integral component of membrane (GO:0016021)		p.Y169H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTATCCAATATATGAAATCAA	0.418																																							uc001npe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(505-507)TAT>CAT		membrane-spanning 4-domains, subfamily A, member							114.0	107.0	109.0					11																	60157028		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60157028T>C	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.505T>C	11.37:g.60157028T>C	ENSP00000300184:p.Tyr169His					MS4A7_uc001npf.2_Missense_Mutation_p.Y169H|MS4A7_uc001npg.2_Missense_Mutation_p.Y124H|MS4A7_uc001nph.2_Missense_Mutation_p.Y124H|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.Y124H	p.Y169H	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			5	650	+			169			Extracellular (Potential).		A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.505T>C	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598868	0.28445	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027	T;T;T;T;T	0.02236	4.38;4.38;4.38;4.38;4.38	3.69	-0.0116	0.13991	.	0.915025	0.09219	N	0.832217	T	0.06554	0.0168	M	0.68593	2.085	0.20307	N	0.999911	D;D;D	0.69078	0.993;0.993;0.997	D;P;D	0.68621	0.94;0.906;0.959	T	0.38520	-0.9657	10	0.17369	T	0.5	-56.9809	2.3908	0.04377	0.222:0.2443:0.0:0.5336	.	124;124;169	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	H	169;124;124;124;105	ENSP00000300184:Y169H;ENSP00000350983:Y124H;ENSP00000434637:Y124H;ENSP00000433861:Y124H;ENSP00000434819:Y105H	ENSP00000300184:Y169H	Y	+	1	0	MS4A7	59913604	0.000000	0.05858	0.012000	0.15200	0.059000	0.15707	-0.022000	0.12480	-0.012000	0.14223	0.460000	0.39030	TAT		0.418	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			8	60	0	0	0	0.004482	0	8	60				
MYRF	745	broad.mit.edu	37	11	61539345	61539345	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:61539345C>A	ENST00000278836.5	+	7	1132	c.1036C>A	c.(1036-1038)Ccc>Acc	p.P346T	MYRF_ENST00000327797.1_5'Flank|MYRF_ENST00000265460.5_Missense_Mutation_p.P337T|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	346					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P337T(1)									CTACCTGGACCCCAACTACCA	0.602																																							uc001nsc.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1036-1038)CCC>ACC		myelin gene regulatory factor isoform 2							134.0	131.0	132.0					11																	61539345		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61539345C>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1036C>A	11.37:g.61539345C>A	ENSP00000278836:p.Pro346Thr					C11orf9_uc001nse.1_Missense_Mutation_p.P337T	p.P346T	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			7	1132	+			346			NDT80.		O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.1036C>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699739	0.88924	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.32023	1.47;1.47	4.31	4.31	0.51392	NDT80 DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);	0.057686	0.64402	D	0.000002	T	0.46367	0.1389	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.87578	0.998;0.857	T	0.41662	-0.9496	10	0.46703	T	0.11	-28.5243	17.3548	0.87333	0.0:1.0:0.0:0.0	.	337;346	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	T	346;337	ENSP00000278836:P346T;ENSP00000265460:P337T	ENSP00000265460:P337T	P	+	1	0	C11orf9	61295921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.495000	0.66912	2.406000	0.81754	0.455000	0.32223	CCC		0.602	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		16	68	1	0	3.32936e-07	0.006122	5.31948e-07	16	68				
SLC22A25	387601	broad.mit.edu	37	11	62931450	62931450	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:62931450G>T	ENST00000306494.6	-	9	1489	c.1490C>A	c.(1489-1491)cCc>cAc	p.P497H	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.P497H(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GATGATCCAGGGCAGGGGTCG	0.512																																							uc001nwr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1489-1491)CCC>CAC		putative UST1-like organic anion transporter							152.0	158.0	156.0					11																	62931450		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62931450G>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1490C>A	11.37:g.62931450G>T	ENSP00000307443:p.Pro497His					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA	p.P497H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			9	1490	-			497			Helical; Name=12; (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.1490C>A	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434257	0.43224	.	.	ENSG00000196600	ENST00000306494	T	0.59502	0.26	4.56	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80969	0.4726	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85824	0.1387	10	0.87932	D	0	.	13.2383	0.59982	0.0:0.0:1.0:0.0	.	497	Q6T423	S22AP_HUMAN	H	497	ENSP00000307443:P497H	ENSP00000307443:P497H	P	-	2	0	SLC22A25	62688026	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	4.446000	0.60014	2.257000	0.74773	0.586000	0.80456	CCC		0.512	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		13	86	1	0	1.5842e-08	0.001855	2.71441e-08	13	86				
PLCB3	5331	broad.mit.edu	37	11	64023045	64023045	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:64023045G>T	ENST00000540288.1	+	7	657	c.554G>T	c.(553-555)cGg>cTg	p.R185L	PLCB3_ENST00000279230.6_Missense_Mutation_p.R185L|PLCB3_ENST00000325234.5_Missense_Mutation_p.R118L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	185					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R185L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GACAAGAAGCGGGTGGAGACT	0.617																																							uc001nzb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(553-555)CGG>CTG		phospholipase C beta 3							99.0	97.0	98.0					11																	64023045		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64023045G>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.554G>T	11.37:g.64023045G>T	ENSP00000443631:p.Arg185Leu					PLCB3_uc009ypg.1_Missense_Mutation_p.R185L|PLCB3_uc009yph.1_Missense_Mutation_p.R118L|PLCB3_uc009ypi.2_Missense_Mutation_p.R185L	p.R185L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			7	554	+			185					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.554G>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	g	18.45	3.627545	0.66901	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.41400	1.0;1.0;1.0	5.1	5.1	0.69264	.	0.129150	0.52532	D	0.000072	T	0.60183	0.2249	L	0.53780	1.695	0.58432	D	0.999999	D;D	0.89917	1.0;0.983	D;P	0.91635	0.999;0.831	T	0.56817	-0.7916	10	0.35671	T	0.21	.	17.3165	0.87226	0.0:0.0:1.0:0.0	.	118;185	G5E960;Q01970	.;PLCB3_HUMAN	L	185;185;118	ENSP00000279230:R185L;ENSP00000443631:R185L;ENSP00000324660:R118L	ENSP00000279230:R185L	R	+	2	0	PLCB3	63779621	1.000000	0.71417	0.985000	0.45067	0.484000	0.33280	7.522000	0.81844	2.384000	0.81235	0.556000	0.70494	CGG		0.617	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			10	44	1	0	0.00621372	0.006214	0.00722496	10	44				
SNX15	29907	broad.mit.edu	37	11	64795011	64795011	+	Start_Codon_SNP	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:64795011T>C	ENST00000377244.3	+	1	132	c.2T>C	c.(1-3)aTg>aCg	p.M1T	SNX15_ENST00000352068.5_Start_Codon_SNP_p.M1T|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	1	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)	p.M1T(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CTCGGTTTCATGTCCCGCCAG	0.701											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(56;269 1304 3324 8253)	Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>ACG		sorting nexin 15 isoform A							48.0	48.0	48.0					11																	64795011		2201	4297	6498	SO:0001582	initiator_codon_variant	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64795011T>C	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.2T>C	11.37:g.64795011T>C	ENSP00000366452:p.Met1Thr		OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1079	SNX15_uc009ypy.2_Missense_Mutation_p.M1T|SNX15_uc001ocj.2_Missense_Mutation_p.M1T|SNX15_uc001ock.2_Missense_Mutation_p.M1T	p.M1T	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			4	655	+			1			PX.		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.2T>C	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495028	0.64186	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.39592	1.43;1.07;1.12;1.5	5.32	5.32	0.75619	Phox homologous domain (1);	0.225617	0.44483	D	0.000457	T	0.36717	0.0977	.	.	.	0.80722	D	1	P;P;P	0.48764	0.915;0.828;0.915	B;B;B	0.39465	0.3;0.22;0.196	T	0.38090	-0.9677	9	0.87932	D	0	-3.602	11.5995	0.50995	0.0:0.0:0.0:1.0	.	1;1;1	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	T	1	ENSP00000366452:M1T;ENSP00000437277:M1T;ENSP00000431690:M1T;ENSP00000316410:M1T	ENSP00000316410:M1T	M	+	2	0	SNX15	64551587	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.194000	0.72082	2.240000	0.73641	0.519000	0.50382	ATG		0.701	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3		Missense_Mutation	6	41	0	0	0	0.001984	0	6	41				
CPT1A	1374	broad.mit.edu	37	11	68540772	68540772	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:68540772G>T	ENST00000265641.5	-	14	1855	c.1701C>A	c.(1699-1701)gaC>gaA	p.D567E	CPT1A_ENST00000376618.2_Missense_Mutation_p.D567E|CPT1A_ENST00000540367.1_Missense_Mutation_p.D567E|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000539743.1_Missense_Mutation_p.D567E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	567	Coenzyme A binding. {ECO:0000250}.				carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.D567E(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GCACAAAGGCGTCTGGGCTCG	0.527																																							uc001oog.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1699-1701)GAC>GAA		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						89.0	78.0	82.0					11																	68540772		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68540772G>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1701C>A	11.37:g.68540772G>T	ENSP00000265641:p.Asp567Glu					CPT1A_uc001oof.3_Missense_Mutation_p.D567E|CPT1A_uc009ysj.2_Intron	p.D567E	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		14	1871	-	Esophageal squamous(3;3.28e-14)		567			Cytoplasmic (Potential).|Coenzyme A binding (By similarity).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1701C>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760973	0.69763	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	4.97	-3.58	0.04597	.	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	H	0.97103	3.94	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97047	0.9761	10	0.87932	D	0	.	9.057	0.36412	0.6658:0.112:0.2222:0.0	.	567;567	P50416;P50416-2	CPT1A_HUMAN;.	E	567	ENSP00000439084:D567E;ENSP00000365803:D567E;ENSP00000265641:D567E;ENSP00000446108:D567E	ENSP00000265641:D567E	D	-	3	2	CPT1A	68297348	0.645000	0.27286	0.279000	0.24732	0.831000	0.47069	-0.047000	0.11963	-0.606000	0.05746	0.297000	0.19635	GAC		0.527	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		3	30	1	0	1.024e-07	0.000602	1.70817e-07	3	30				
PPFIA1	8500	broad.mit.edu	37	11	70171046	70171046	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:70171046G>T	ENST00000253925.7	+	4	675	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.V154L	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	154					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.V154L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCCAGCAGGCGTGTCCAGCGA	0.498																																							uc001opo.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(460-462)GTG>TTG		PTPRF interacting protein alpha 1 isoform b							103.0	104.0	104.0					11																	70171046		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171046G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.460G>T	11.37:g.70171046G>T	ENSP00000253925:p.Val154Leu					PPFIA1_uc001opn.1_Missense_Mutation_p.V154L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	p.V154L	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		4	658	+			154					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.460G>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.585011	0.96578	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000530746	T;T;T	0.49432	0.78;0.78;0.78	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000002	T	0.55862	0.1947	N	0.17082	0.46	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.959;0.987	T	0.62973	-0.6740	10	0.87932	D	0	.	19.2525	0.93930	0.0:0.0:1.0:0.0	.	154;154	Q13136;Q13136-2	LIPA1_HUMAN;.	L	154	ENSP00000253925:V154L;ENSP00000374198:V154L;ENSP00000432722:V154L	ENSP00000253925:V154L	V	+	1	0	PPFIA1	69848694	1.000000	0.71417	0.995000	0.50966	0.868000	0.49771	9.522000	0.98032	2.617000	0.88574	0.650000	0.86243	GTG		0.498	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		6	101	1	0	0.00198382	0.001984	0.00238984	6	101				
ARHGEF17	9828	broad.mit.edu	37	11	73071467	73071467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:73071467G>T	ENST00000263674.3	+	11	4659	c.4309G>T	c.(4309-4311)Gag>Tag	p.E1437*		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1437					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1437*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AACCAAGCTGGAGCTGTGCGC	0.627																																							uc001otu.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(4309-4311)GAG>TAG		Rho guanine nucleotide exchange factor (GEF) 17							115.0	128.0	123.0					11																	73071467		2200	4293	6493	SO:0001587	stop_gained	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73071467G>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4309G>T	11.37:g.73071467G>T	ENSP00000263674:p.Glu1437*						p.E1437*	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			11	4330	+			1437					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Nonsense_Mutation	SNP	ENST00000263674.3	37	c.4309G>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	47	13.651840	0.99755	.	.	ENSG00000110237	ENST00000263674	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.6512	19.0707	0.93134	0.0:0.0:1.0:0.0	.	.	.	.	X	1437	.	ENSP00000263674:E1437X	E	+	1	0	ARHGEF17	72749115	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.623000	0.98386	2.746000	0.94184	0.655000	0.94253	GAG		0.627	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		8	109	1	0	0.000274275	0.004482	0.000355681	8	109				
PCF11	51585	broad.mit.edu	37	11	82882867	82882867	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:82882867G>T	ENST00000298281.4	+	9	4120	c.3668G>T	c.(3667-3669)aGt>aTt	p.S1223I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1223					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.S1223I(1)|p.S1322I(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGGTTCTGAGTGGTGTTGCT	0.323																																							uc001ozx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3667-3669)AGT>ATT		pre-mRNA cleavage complex II protein Pcf11							140.0	134.0	136.0					11																	82882867		1838	4091	5929	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.chr11:82882867G>T	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.3668G>T	11.37:g.82882867G>T	ENSP00000298281:p.Ser1223Ile						p.S1223I	NM_015885	NP_056969	O94913	PCF11_HUMAN			9	4013	+			1223					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.3668G>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045776	0.36085	.	.	ENSG00000165494	ENST00000298281;ENST00000530906	T;T	0.49432	1.9;0.78	5.0	1.96	0.26148	.	0.473298	0.19500	N	0.112741	T	0.28300	0.0699	N	0.19112	0.55	0.23298	N	0.997951	B	0.02656	0.0	B	0.04013	0.001	T	0.16867	-1.0388	9	.	.	.	-3.6536	9.0142	0.36159	0.0:0.3925:0.5223:0.0853	.	1223	O94913	PCF11_HUMAN	I	1223;8	ENSP00000298281:S1223I;ENSP00000437076:S8I	.	S	+	2	0	PCF11	82560515	0.681000	0.27614	0.999000	0.59377	0.971000	0.66376	0.322000	0.19576	0.322000	0.23283	-0.211000	0.12701	AGT		0.323	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		7	55	1	0	8.12818e-05	0.001984	0.000110582	7	55				
FZD4	8322	broad.mit.edu	37	11	86663317	86663317	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:86663317C>A	ENST00000531380.1	-	2	786	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	161	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G161W(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCACCTGGCCCTTCCATGCAC	0.527																																							uc001pce.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(481-483)GGG>TGG		frizzled 4 precursor							118.0	116.0	117.0					11																	86663317		2201	4299	6500	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86663317C>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.481G>T	11.37:g.86663317C>A	ENSP00000434034:p.Gly161Trp					PRSS23_uc001pcc.1_RNA	p.G161W	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN			2	787	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	161			FZ.|Extracellular (Potential).		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.481G>T	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535813	0.85812	.	.	ENSG00000174804	ENST00000531380	T	0.79845	-1.31	5.82	5.82	0.92795	Frizzled domain (4);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	M	0.83312	2.635	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.90252	0.4294	9	.	.	.	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	161	Q9ULV1	FZD4_HUMAN	W	161	ENSP00000434034:G161W	.	G	-	1	0	FZD4	86340965	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.089000	0.71384	2.760000	0.94817	0.655000	0.94253	GGG		0.527	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		8	59	1	0	1.06961e-07	0.00308	1.76868e-07	8	59				
FAT3	120114	broad.mit.edu	37	11	92616229	92616229	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:92616229A>T	ENST00000298047.6	+	23	12624	c.12607A>T	c.(12607-12609)Aag>Tag	p.K4203*	FAT3_ENST00000533797.1_Nonsense_Mutation_p.K538*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.K4053*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.K4203*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4203					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.K4203*(2)|p.K778*(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGCTTAACAAGAGCAATGG	0.642										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	3	Substitution - Nonsense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12607-12609)AAG>TAG		FAT tumor suppressor homolog 3							52.0	63.0	60.0					11																	92616229		2000	4158	6158	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616229A>T	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.12607A>T	11.37:g.92616229A>T	ENSP00000298047:p.Lys4203*	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Nonsense_Mutation_p.K643*	p.K4203*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12624	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4203			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.12607A>T		.	.	.	.	.	.	.	.	.	.	A	37	6.635199	0.97722	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	.	.	.	5.63	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	12.8075	0.57622	0.8631:0.1369:0.0:0.0	.	.	.	.	X	4203;4203;4053;538	.	ENSP00000298047:K4203X	K	+	1	0	FAT3	92255877	1.000000	0.71417	0.967000	0.41034	0.354000	0.29330	7.259000	0.78381	0.944000	0.37579	0.533000	0.62120	AAG		0.642	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	68	0	0	0	0.00308	0	6	68				
YAP1	10413	broad.mit.edu	37	11	102033253	102033253	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:102033253A>T	ENST00000282441.5	+	3	1027	c.639A>T	c.(637-639)acA>acT	p.T213T	YAP1_ENST00000537274.1_Silent_p.T213T|YAP1_ENST00000345877.2_Silent_p.T213T|YAP1_ENST00000531439.1_Silent_p.T213T|YAP1_ENST00000526343.1_Silent_p.T213T|YAP1_ENST00000524575.1_Silent_p.T35T	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	213					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.T213T(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TGAACGTCACAGCCCCCACCA	0.488																																					Colon(50;247 1103 7861 28956)	Colon(50;247 1103 7861 28956)	uc001pgt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(637-639)ACA>ACT		Yes-associated protein 1, 65kDa isoform 1							187.0	177.0	181.0					11																	102033253		2203	4299	6502	SO:0001819	synonymous_variant	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102033253A>T		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.639A>T	11.37:g.102033253A>T						YAP1_uc001pgs.2_Silent_p.T213T|YAP1_uc001pgu.2_Silent_p.T213T|YAP1_uc001pgv.2_Silent_p.T213T|YAP1_uc010ruo.1_Silent_p.T35T|YAP1_uc001pgw.2_Silent_p.T35T	p.T213T	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	3	1009	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	213					B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	c.639A>T	CCDS44716.1																																																																																				0.488	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		7	118	0	0	0	0.00308	0	7	118				
MMP7	4316	broad.mit.edu	37	11	102394117	102394117	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:102394117T>C	ENST00000260227.4	-	5	681	c.629A>G	c.(628-630)tAt>tGt	p.Y210C		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	210					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y210C(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	AGTTGCAGCATACAGGAAGTT	0.343																																							uc001phb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(628-630)TAT>TGT		matrix metalloproteinase 7 preproprotein							98.0	91.0	93.0					11																	102394117		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102394117T>C	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.629A>G	11.37:g.102394117T>C	ENSP00000260227:p.Tyr210Cys						p.Y210C	NM_002423	NP_002414	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	5	676	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	210					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.629A>G	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995287	0.54147	.	.	ENSG00000137673	ENST00000260227	T	0.21031	2.03	5.23	-10.5	0.00291	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.203340	0.06054	N	0.657065	T	0.25158	0.0611	L	0.41573	1.285	0.09310	N	1	D	0.71674	0.998	D	0.65010	0.931	T	0.50947	-0.8767	10	0.66056	D	0.02	-9.8406	5.8704	0.18801	0.6402:0.0608:0.0655:0.2335	.	210	P09237	MMP7_HUMAN	C	210	ENSP00000260227:Y210C	ENSP00000260227:Y210C	Y	-	2	0	MMP7	101899327	0.000000	0.05858	0.000000	0.03702	0.958000	0.62258	-1.703000	0.01900	-1.517000	0.01780	0.455000	0.32223	TAT		0.343	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			4	55	0	0	0	0.000602	0	4	55				
MMP10	4319	broad.mit.edu	37	11	102649462	102649462	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:102649462G>A	ENST00000279441.4	-	4	551	c.515C>T	c.(514-516)tCt>tTt	p.S172F		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	172					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S172F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	GCCATCAAAAGAGTAAAAGTC	0.378																																							uc001phg.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(514-516)TCT>TTT		matrix metalloproteinase 10 preproprotein							88.0	84.0	86.0					11																	102649462		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102649462G>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.515C>T	11.37:g.102649462G>A	ENSP00000279441:p.Ser172Phe						p.S172F	NM_002425	NP_002416	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	4	537	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	172					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.515C>T	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	g	11.93	1.785680	0.31593	.	.	ENSG00000166670	ENST00000279441	T	0.22336	1.96	4.38	2.42	0.29668	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.872680	0.09852	N	0.747414	T	0.40909	0.1136	M	0.63843	1.955	0.24286	N	0.995184	D	0.69078	0.997	P	0.60609	0.877	T	0.30446	-0.9978	10	0.87932	D	0	.	13.1789	0.59642	0.0:0.0:0.7024:0.2976	.	172	P09238	MMP10_HUMAN	F	172	ENSP00000279441:S172F	ENSP00000279441:S172F	S	-	2	0	MMP10	102154672	0.976000	0.34144	0.485000	0.27403	0.023000	0.10783	4.305000	0.59110	0.521000	0.28445	0.591000	0.81541	TCT		0.378	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			3	38	0	0	0	0.004672	0	3	38				
ATM	472	broad.mit.edu	37	11	108218052	108218052	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:108218052G>A	ENST00000452508.2	+	60	8820	c.8631G>A	c.(8629-8631)ttG>ttA	p.L2877L	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.L2877L|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2877	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2877L(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGAATATCTTGATAAATGAGC	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8629-8631)TTG>TTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							100.0	105.0	103.0					11																	108218052		2201	4295	6496	SO:0001819	synonymous_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108218052G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8631G>A	11.37:g.108218052G>A		TSP Lung(14;0.12)				ATM_uc009yxr.1_Silent_p.L2877L|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.L1529L	p.L2877L	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	59	9016	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2877			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.8631G>A	CCDS31669.1																																																																																				0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		3	41	0	0	0	0.004672	0	3	41				
EXPH5	23086	broad.mit.edu	37	11	108384381	108384381	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:108384381C>G	ENST00000265843.4	-	6	1963	c.1853G>C	c.(1852-1854)gGa>gCa	p.G618A	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.G542A|EXPH5_ENST00000525344.1_Missense_Mutation_p.G611A|EXPH5_ENST00000443411.1_Missense_Mutation_p.G430A	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	618					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.G618A(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)		CTGAGCAATTCCAAATGAGGA	0.418																																							uc001pkk.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1852-1854)GGA>GCA		exophilin 5 isoform a							94.0	96.0	95.0					11																	108384381		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384381C>G		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.1853G>C	11.37:g.108384381C>G	ENSP00000265843:p.Gly618Ala					EXPH5_uc010rvy.1_Missense_Mutation_p.G430A|EXPH5_uc010rvz.1_Missense_Mutation_p.G462A|EXPH5_uc010rwa.1_Missense_Mutation_p.G542A	p.G618A	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	1964	-		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)	618					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1853G>C	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097597	0.37048	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04603	4.26;4.19;4.04;4.26;4.1;3.59	6.03	0.2	0.15181	.	0.444524	0.21097	N	0.080237	T	0.05547	0.0146	M	0.62723	1.935	0.09310	N	1	P	0.36837	0.571	B	0.33960	0.173	T	0.23655	-1.0182	10	0.62326	D	0.03	-1.8802	7.6585	0.28389	0.0:0.4046:0.0:0.5954	.	618	Q8NEV8	EXPH5_HUMAN	A	618;542;430;611;462;542;430	ENSP00000265843:G618A;ENSP00000391966:G542A;ENSP00000411390:G430A;ENSP00000432546:G611A;ENSP00000432683:G542A;ENSP00000446434:G430A	ENSP00000265843:G618A	G	-	2	0	EXPH5	107889591	0.000000	0.05858	0.006000	0.13384	0.825000	0.46686	-0.190000	0.09615	0.113000	0.18004	0.557000	0.71058	GGA		0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		8	87	0	0	0	0.00308	0	8	87				
NCAM1	4684	broad.mit.edu	37	11	113102911	113102911	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:113102911C>A	ENST00000533760.1	+	10	1475	c.876C>A	c.(874-876)ggC>ggA	p.G292G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.G410G|NCAM1_ENST00000401611.2_Silent_p.G419G	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	420	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.G419G(2)|p.G410G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCTACAGGGCCCTGTGGCTG	0.537																																							uc009yyq.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(982-984)GGC>GGA		neural cell adhesion molecule 1 isoform 3							46.0	48.0	47.0					11																	113102911		1932	4154	6086	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102911C>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.876C>A	11.37:g.113102911C>A							p.G328G	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	12	1678	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	420			Ig-like C2-type 5.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.984C>A																																																																																					0.537	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		3	11	1	0	6.4e-05	0.004672	8.8683e-05	3	11				
DRD2	1813	broad.mit.edu	37	11	113285099	113285099	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:113285099C>G	ENST00000362072.3	-	6	1152	c.808G>C	c.(808-810)Gtg>Ctg	p.V270L	DRD2_ENST00000538967.1_Missense_Mutation_p.V270L|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000544518.1_Missense_Mutation_p.V269L|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000355319.2_Missense_Mutation_p.V270L|DRD2_ENST00000542968.1_Missense_Mutation_p.V270L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	270	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.V270L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCACTTACCACTCTCCGCCTG	0.567																																							uc001pnz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(808-810)GTG>CTG		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						184.0	178.0	180.0					11																	113285099		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113285099C>G	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.808G>C	11.37:g.113285099C>G	ENSP00000354859:p.Val270Leu					DRD2_uc010rwv.1_Missense_Mutation_p.V269L|DRD2_uc001poa.3_Missense_Mutation_p.V270L|DRD2_uc001pob.3_Intron|DRD2_uc009yyr.1_Missense_Mutation_p.V270L	p.V270L	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	5	1129	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	270			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.808G>C	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	c	14.84	2.655961	0.47467	.	.	ENSG00000149295	ENST00000355319;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T	0.73047	-0.63;-0.68;-0.71;-0.68;-0.63	5.27	-1.31	0.09230	GPCR, rhodopsin-like superfamily (1);	0.292874	0.37809	N	0.001938	T	0.46756	0.1409	L	0.29908	0.895	0.34776	D	0.734282	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.11329	0.006;0.003;0.003	T	0.16070	-1.0415	10	0.17369	T	0.5	.	2.4851	0.04596	0.1211:0.498:0.1176:0.2633	.	269;270;270	F8VUV1;P14416-3;P14416	.;.;DRD2_HUMAN	L	270;270;269;270;270	ENSP00000347474:V270L;ENSP00000354859:V270L;ENSP00000441068:V269L;ENSP00000442172:V270L;ENSP00000438215:V270L	ENSP00000347474:V270L	V	-	1	0	DRD2	112790309	1.000000	0.71417	0.968000	0.41197	0.995000	0.86356	2.066000	0.41452	-0.598000	0.05806	0.457000	0.33378	GTG		0.567	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		11	134	0	0	0	0.000978	0	11	134				
CADM1	23705	broad.mit.edu	37	11	115085438	115085438	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:115085438C>T	ENST00000452722.3	-	7	904	c.884G>A	c.(883-885)gGg>gAg	p.G295E	CADM1_ENST00000536727.1_Missense_Mutation_p.G295E|CADM1_ENST00000537058.1_Missense_Mutation_p.G295E|CADM1_ENST00000331581.6_Missense_Mutation_p.G295E|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_Missense_Mutation_p.G295E	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.G295E(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CAGGTTGGGCCCAGACAGTAC	0.473																																							uc001ppi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(883-885)GGG>GAG		immunoglobulin superfamily, member 4D isoform 1							262.0	224.0	237.0					11																	115085438		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115085438C>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.884G>A	11.37:g.115085438C>T	ENSP00000395359:p.Gly295Glu					CADM1_uc001ppf.3_Missense_Mutation_p.G295E|CADM1_uc001ppk.3_Missense_Mutation_p.G295E|CADM1_uc001ppj.3_Missense_Mutation_p.G295E|CADM1_uc001ppl.2_Missense_Mutation_p.G295E|CADM1_uc001pph.3_Missense_Mutation_p.G47E	p.G295E	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	7	1013	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	295			Ig-like C2-type 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000452722.3	37	c.884G>A	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.425679|4.425679	0.83667|0.83667	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581|ENST00000545380	T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.66446|.	0.2790|.	L|L	0.39085|0.39085	1.19|1.19	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.975;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.966;0.999|.	T|.	0.60890|.	-0.7173|.	10|.	0.51188|.	T|.	0.08|.	.|.	19.6764|19.6764	0.95936|0.95936	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	295;295;296;295;295|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	E|X	295;295;295;295;254;295|293	ENSP00000439176:G295E;ENSP00000395359:G295E;ENSP00000439817:G295E;ENSP00000440322:G295E;ENSP00000329797:G295E|.	ENSP00000329797:G295E|.	G|W	-|-	2|3	0|0	CADM1|CADM1	114590648|114590648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.456000|7.456000	0.80751|0.80751	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.473	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		13	63	0	0	0	0.00245	0	13	63				
CEP164	22897	broad.mit.edu	37	11	117280506	117280506	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:117280506G>C	ENST00000278935.3	+	30	4068	c.3921G>C	c.(3919-3921)aaG>aaC	p.K1307N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1307					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.K1307N(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	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;4e-05)|Epithelial(105;0.0008)		GGGACCCTAAGAGCACCCCCA	0.652																																							uc001prc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3919-3921)AAG>AAC		centrosomal protein 164kDa							99.0	104.0	102.0					11																	117280506		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280506G>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3921G>C	11.37:g.117280506G>C	ENSP00000278935:p.Lys1307Asn					CEP164_uc001prb.2_Missense_Mutation_p.K1302N|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.K732N	p.K1307N	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	4068	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1307					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3921G>C	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	5.731	0.319283	0.10845	.	.	ENSG00000110274	ENST00000278935	T	0.29142	1.58	4.19	3.26	0.37387	.	0.624679	0.14219	N	0.333550	T	0.27663	0.0680	L	0.38175	1.15	0.09310	N	1	P;P	0.36535	0.557;0.557	B;B	0.38683	0.279;0.279	T	0.07028	-1.0794	10	0.40728	T	0.16	-16.7132	12.5672	0.56316	0.0928:0.0:0.9072:0.0	.	1307;1302	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	N	1307	ENSP00000278935:K1307N	ENSP00000278935:K1307N	K	+	3	2	CEP164	116785716	0.004000	0.15560	0.003000	0.11579	0.021000	0.10359	0.205000	0.17356	0.347000	0.23924	-1.579000	0.00862	AAG		0.652	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		16	113	0	0	0	0.004007	0	16	113				
ATP5L	10632	broad.mit.edu	37	11	118279714	118279714	+	Splice_Site	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:118279714G>A	ENST00000300688.3	+	3	725		c.e3-1		ATP5L_ENST00000529770.1_Splice_Site|ATP5L_ENST00000524422.1_Intron	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G						ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)	p.?(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		TCTTTTTTCAGGAAGCTGTGC	0.333																																							uc001psx.2		NA																	1	Unknown(1)		lung(1)		0						c.e3-1		ATP synthase, H+ transporting, mitochondrial F0							104.0	93.0	97.0					11																	118279714		2200	4296	6496	SO:0001630	splice_region_variant	10632				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding	g.chr11:118279714G>A	AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	14247	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"""			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.214-1G>A	11.37:g.118279714G>A							p.E72_splice	NM_006476	NP_006467	O75964	ATP5L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)	3	491	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)						A8K0K3|Q96BV6|Q9UBZ7	Splice_Site	SNP	ENST00000300688.3	37	c.214_splice	CCDS8397.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861688	0.71949	.	.	ENSG00000167283	ENST00000300688	.	.	.	5.62	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1989	0.65688	0.0721:0.0:0.9279:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP5L	117784924	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.039000	0.93777	1.378000	0.46305	0.650000	0.86243	.		0.333	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389220.1	NM_006476	Intron	6	23	0	0	0	0.001168	0	6	23				
GRIK4	2900	broad.mit.edu	37	11	120531062	120531062	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:120531062C>T	ENST00000527524.2	+	3	322	c.35C>T	c.(34-36)cCt>cTt	p.P12L	GRIK4_ENST00000438375.2_Missense_Mutation_p.P12L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	12					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.P12L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GTGCTGCTTCCTGCGTGGCTC	0.632											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001pxn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(34-36)CCT>CTT		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						68.0	59.0	62.0					11																	120531062		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120531062C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.35C>T	11.37:g.120531062C>T	ENSP00000435648:p.Pro12Leu		OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1504	GRIK4_uc009zav.1_Missense_Mutation_p.P12L|GRIK4_uc009zaw.1_Missense_Mutation_p.P12L|GRIK4_uc009zax.1_Missense_Mutation_p.P12L	p.P12L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	3	322	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	12					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.35C>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	9.612	1.131658	0.21041	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.10192	2.9;2.9	5.55	2.16	0.27623	.	0.112497	0.40144	N	0.001165	T	0.03651	0.0104	N	0.08118	0	0.36482	D	0.867885	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37361	-0.9709	10	0.05351	T	0.99	.	5.7023	0.17889	0.0:0.5202:0.0:0.4797	.	12;12	A6H8K8;Q16099	.;GRIK4_HUMAN	L	12	ENSP00000435648:P12L;ENSP00000404063:P12L	ENSP00000404063:P12L	P	+	2	0	GRIK4	120036272	0.993000	0.37304	0.761000	0.31378	0.989000	0.77384	2.762000	0.47597	0.809000	0.34255	0.563000	0.77884	CCT		0.632	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		6	51	0	0	0	0.001984	0	6	51				
SORL1	6653	broad.mit.edu	37	11	121429299	121429299	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:121429299G>T	ENST00000260197.7	+	20	2792		c.e20-1			NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATTTTCGCTAGGGTGATGTTC	0.473																																							uc001pxx.2		NA																	1	Unknown(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.e20-1		sortilin-related receptor containing LDLR class							171.0	165.0	167.0					11																	121429299		2203	4299	6502	SO:0001630	splice_region_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121429299G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2664-1G>T	11.37:g.121429299G>T							p.G888_splice	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	20	2744	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)						B2RNX7|Q92856	Splice_Site	SNP	ENST00000260197.7	37	c.2664_splice	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730952	0.69074	.	.	ENSG00000137642	ENST00000260197	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4641	0.94931	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SORL1	120934509	1.000000	0.71417	0.334000	0.25495	0.780000	0.44128	9.601000	0.98297	2.605000	0.88082	0.655000	0.94253	.		0.473	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Intron	11	71	1	0	0.000219431	0.00245	0.000293264	11	71				
CLMP	79827	broad.mit.edu	37	11	122954456	122954456	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:122954456A>G	ENST00000448775.2	-	4	828	c.488T>C	c.(487-489)gTg>gCg	p.V163A	CLMP_ENST00000530371.1_5'Flank	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	163	Ig-like C2-type 2.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.V163A(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CCAGTAATACACAATGGGCTC	0.498																																							uc001pyt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(487-489)GTG>GCG		adipocyte-specific adhesion molecule precursor							173.0	133.0	146.0					11																	122954456		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122954456A>G	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.488T>C	11.37:g.122954456A>G	ENSP00000405577:p.Val163Ala						p.V163A	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	4	847	-		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	163			Ig-like C2-type 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000448775.2	37	c.488T>C	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	A	9.440	1.087885	0.20390	.	.	ENSG00000166250	ENST00000448775	T	0.12774	2.65	5.48	1.98	0.26296	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.198680	0.05533	N	0.564354	T	0.07683	0.0193	N	0.16790	0.44	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39333	-0.9619	10	0.09590	T	0.72	.	4.383	0.11304	0.5604:0.0:0.298:0.1416	.	163	Q9H6B4	CLMP_HUMAN	A	163	ENSP00000405577:V163A	ENSP00000405577:V163A	V	-	2	0	CLMP	122459666	0.000000	0.05858	0.980000	0.43619	0.998000	0.95712	0.369000	0.20416	0.395000	0.25257	0.533000	0.62120	GTG		0.498	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		4	60	0	0	0	0.000248	0	4	60				
OR6X1	390260	broad.mit.edu	37	11	123624810	123624810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:123624810G>T	ENST00000327930.2	-	1	443	c.417C>A	c.(415-417)tgC>tgA	p.C139*		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C139*(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCAGCTGCAGGCAGAGTTTGC	0.522																																							uc010rzy.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(415-417)TGC>TGA		olfactory receptor, family 6, subfamily X,							106.0	108.0	107.0					11																	123624810		2202	4299	6501	SO:0001587	stop_gained	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624810G>T	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.417C>A	11.37:g.123624810G>T	ENSP00000333724:p.Cys139*						p.C139*	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	417	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	139			Helical; Name=4; (Potential).		B9EGW9|Q6IFA0	Nonsense_Mutation	SNP	ENST00000327930.2	37	c.417C>A	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412799	0.83340	.	.	ENSG00000221931	ENST00000327930	.	.	.	4.55	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.855	6.4481	0.21887	0.2996:0.0:0.7004:0.0	.	.	.	.	X	139	.	ENSP00000333724:C139X	C	-	3	2	OR6X1	123130020	0.001000	0.12720	0.975000	0.42487	0.978000	0.69477	0.296000	0.19083	0.555000	0.29079	-0.142000	0.14014	TGC		0.522	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		3	39	1	0	0.00024832	0.000248	0.000325365	3	39				
KIRREL3	84623	broad.mit.edu	37	11	126319004	126319004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:126319004G>T	ENST00000525144.2	-	8	1146	c.897C>A	c.(895-897)taC>taA	p.Y299*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.Y299*|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.Y299*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	299	Ig-like C2-type 3.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y299*(2)|p.Y258*(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTGTGGTCCTGTACACCTCTC	0.607																																							uc001qea.2		NA																	3	Substitution - Nonsense(3)		lung(3)	ovary(3)	3						c.(895-897)TAC>TAA		kin of IRRE like 3 isoform 1							157.0	165.0	163.0					11																	126319004		2092	4205	6297	SO:0001587	stop_gained	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126319004G>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.897C>A	11.37:g.126319004G>T	ENSP00000435466:p.Tyr299*					KIRREL3_uc001qeb.2_Nonsense_Mutation_p.Y299*|KIRREL3_uc001qec.1_Nonsense_Mutation_p.Y299*	p.Y299*	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	8	1258	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	299			Extracellular (Potential).|Ig-like C2-type 3.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Nonsense_Mutation	SNP	ENST00000525144.2	37	c.897C>A	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523368	0.85600	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	.	.	.	5.32	-3.46	0.04767	.	0.074850	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8765	0.57994	0.8106:0.0:0.1894:0.0	.	.	.	.	X	299	.	ENSP00000435466:Y299X	Y	-	3	2	KIRREL3	125824214	0.529000	0.26322	0.009000	0.14445	0.993000	0.82548	-0.099000	0.11007	-0.515000	0.06479	-0.163000	0.13421	TAC		0.607	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		8	73	1	0	2.17888e-05	0.006214	3.14511e-05	8	73				
ETS1	2113	broad.mit.edu	37	11	128356001	128356001	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:128356001G>C	ENST00000319397.6	-	4	753	c.444C>G	c.(442-444)gcC>gcG	p.A148A	ETS1_ENST00000392668.4_Silent_p.A192A|ETS1_ENST00000345075.4_Silent_p.A148A|ETS1_ENST00000531611.1_Silent_p.A148A|ETS1_ENST00000526145.2_Silent_p.A148A|ETS1_ENST00000535549.1_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	148	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A148A(1)|p.A192A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ATTCTGGATAGGCTGGGTTGA	0.408																																							uc010sbs.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|central_nervous_system(1)|pleura(1)	6						c.(442-444)GCC>GCG		v-ets erythroblastosis virus E26 oncogene							166.0	154.0	158.0					11																	128356001		2201	4297	6498	SO:0001819	synonymous_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128356001G>C		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.444C>G	11.37:g.128356001G>C						ETS1_uc001qej.2_Silent_p.A192A|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.A148A	p.A148A	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	4	760	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	148					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	ENST00000319397.6	37	c.444C>G	CCDS8475.1																																																																																				0.408	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		6	57	0	0	0	0.001168	0	6	57				
ADAMTS15	170689	broad.mit.edu	37	11	130340918	130340918	+	Silent	SNP	C	C	T	rs375413440		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:130340918C>T	ENST00000299164.2	+	6	1824	c.1824C>T	c.(1822-1824)tcC>tcT	p.S608S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	608	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S608S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCAAGTACTCCGGCGTGTCTC	0.617																																							uc010scd.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(1822-1824)TCC>TCT		a disintegrin-like and metalloprotease		A		0,4402		0,0,2201	72.0	74.0	73.0		1824	-11.3	0.1	11		73	2,8592		0,2,4295	no	coding-synonymous	ADAMTS15	NM_139055.2		0,2,6496	TT,TC,CC		0.0233,0.0,0.0154		608/951	130340918	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130340918C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1824C>T	11.37:g.130340918C>T							p.S608S	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	6	1824	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	608			Cys-rich.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.1824C>T	CCDS8488.1																																																																																				0.617	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		6	67	0	0	0	0.001984	0	6	67				
Unknown	0	broad.mit.edu	37	12	90858	90858	+	IGR	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:90858G>C								AC215219.1 (17536 upstream) : AC026369.1 (56193 downstream)																							CCGCGTGTCAGACTCCATCCC	0.642																																							uc010scy.1		NA																	0					0						c.(724-726)GAC>CAC		SubName: Full=Actin nucleation promoting factor; Flags: Fragment;																																				SO:0001628	intergenic_variant	100288778							g.chr12:90858G>C																													12.37:g.90858G>C						LOC100288778_uc010scz.1_RNA|LOC100288778_uc010sdd.1_3'UTR|LOC100288778_uc010sde.1_Missense_Mutation_p.D242H|LOC100288778_uc010sdf.1_Missense_Mutation_p.D242H|LOC100288778_uc010sdg.1_Missense_Mutation_p.D242H|LOC100288778_uc010sdh.1_RNA	p.D242H							10	1279	+									Missense_Mutation	SNP		37	c.724G>C																																																																																				0	0.642									4	5	0	0	0	0.000602	0	4	5				
Unknown	0	broad.mit.edu	37	12	90911	90911	+	IGR	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:90911G>C								AC215219.1 (17589 upstream) : AC026369.1 (56140 downstream)																							ACGAGGACAAGGACGACTGGG	0.647																																							uc010scy.1		NA																	0					0						c.(775-777)AAG>AAC		SubName: Full=Actin nucleation promoting factor; Flags: Fragment;																																				SO:0001628	intergenic_variant	100288778							g.chr12:90911G>C																													12.37:g.90911G>C						LOC100288778_uc010scz.1_RNA|LOC100288778_uc010sdd.1_3'UTR|LOC100288778_uc010sde.1_Missense_Mutation_p.K259N|LOC100288778_uc010sdf.1_Missense_Mutation_p.K259N|LOC100288778_uc010sdg.1_Missense_Mutation_p.K259N|LOC100288778_uc010sdh.1_RNA	p.K259N							10	1332	+									Missense_Mutation	SNP		37	c.777G>C																																																																																				0	0.647									4	9	0	0	0	0.000602	0	4	9				
IQSEC3	440073	broad.mit.edu	37	12	274680	274680	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:274680C>A	ENST00000538872.1	+	10	2908	c.2790C>A	c.(2788-2790)ttC>ttA	p.F930L	IQSEC3_ENST00000326261.4_Missense_Mutation_p.F930L|RP11-598F7.5_ENST00000540136.1_RNA|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.F627L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	930	PH.				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)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.F627L(1)|p.F930L(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCATGCAGTTCCAGCTCTTTG	0.493																																							uc001qhw.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(1879-1881)TTC>TTA		IQ motif and Sec7 domain 3							164.0	152.0	156.0					12																	274680		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:274680C>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2790C>A	12.37:g.274680C>A	ENSP00000437554:p.Phe930Leu					IQSEC3_uc001qhu.1_Missense_Mutation_p.F627L	p.F627L	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	7	1887	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		930			PH.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1881C>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204631	0.38905	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.27104	1.69;1.69;1.69	4.87	-0.199	0.13220	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	L	0.58669	1.825	0.58432	D	0.999999	B;B	0.22003	0.063;0.02	B;B	0.21546	0.035;0.032	T	0.08534	-1.0717	10	0.22706	T	0.39	.	9.9636	0.41710	0.0:0.6573:0.0:0.3427	.	930;627	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	L	930;930;627	ENSP00000437554:F930L;ENSP00000315662:F930L;ENSP00000372292:F627L	ENSP00000315662:F930L	F	+	3	2	IQSEC3	144941	0.993000	0.37304	0.995000	0.50966	0.984000	0.73092	0.413000	0.21148	-0.132000	0.11557	-0.142000	0.14014	TTC		0.493	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		7	63	1	0	8.12818e-05	0.001984	0.000110582	7	63				
CACNA2D4	93589	broad.mit.edu	37	12	2022194	2022194	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:2022194C>T	ENST00000382722.5	-	3	783	c.421G>A	c.(421-423)Gtc>Atc	p.V141I	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.V141I|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.V77I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.V141I|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.V77I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.V141I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	141					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V141I(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGTACCTGGACCGCCTCGACT	0.602																																					Colon(2;101 179 21030 23310 28141)	Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(421-423)GTC>ATC		voltage-gated calcium channel alpha(2)delta-4							102.0	119.0	113.0					12																	2022194		2133	4247	6380	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2022194C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.421G>A	12.37:g.2022194C>T	ENSP00000372169:p.Val141Ile					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.V141I	p.V141I	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	3	652	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	141			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.421G>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694949	0.30052	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.09723	2.95	5.32	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.20780	0.0500	M	0.62723	1.935	0.26684	N	0.971483	B;D	0.64830	0.165;0.994	B;P	0.53861	0.142;0.736	T	0.07102	-1.0790	10	0.25751	T	0.34	.	13.2379	0.59979	0.0:0.9226:0.0:0.0774	.	141;141	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	I	77;141;141	ENSP00000372169:V141I	ENSP00000280663:V141I	V	-	1	0	CACNA2D4	1892455	0.998000	0.40836	0.082000	0.20525	0.007000	0.05969	3.747000	0.55134	1.251000	0.43983	0.650000	0.86243	GTC		0.602	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			3	10	0	0	0	0.004672	0	3	10				
LRP6	4040	broad.mit.edu	37	12	12334236	12334236	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:12334236C>T	ENST00000261349.4	-	6	1190	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	LRP6_ENST00000543091.1_Missense_Mutation_p.G372S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	372	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G372S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TAGATGTAGCCTTCCACAGGA	0.453																																							uc001rah.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(1114-1116)GGC>AGC		low density lipoprotein receptor-related protein							211.0	179.0	190.0					12																	12334236		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334236C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1114G>A	12.37:g.12334236C>T	ENSP00000261349:p.Gly372Ser					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G372S	p.G372S	NM_002336	NP_002327	O75581	LRP6_HUMAN			6	1256	-		Prostate(47;0.0865)	372			LDL-receptor class B 6.|Extracellular (Potential).|Beta-propeller 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1114G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910988	0.92178	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96885	-4.16;-4.16	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000008	D	0.98018	0.9347	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;0.961	D;P	0.91635	0.999;0.889	D	0.96766	0.9565	10	0.19147	T	0.46	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	372;372	F5H7J9;O75581	.;LRP6_HUMAN	S	372	ENSP00000261349:G372S;ENSP00000442472:G372S	ENSP00000261349:G372S	G	-	1	0	LRP6	12225503	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.818000	0.86416	2.752000	0.94435	0.655000	0.94253	GGC		0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			8	58	0	0	0	0.00308	0	8	58				
PLCZ1	89869	broad.mit.edu	37	12	18865880	18865880	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:18865880A>T	ENST00000266505.7	-	6	873	c.610T>A	c.(610-612)Tgg>Agg	p.W204R	PLCZ1_ENST00000541695.1_Missense_Mutation_p.W67R|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.W202R|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000542762.1_5'UTR					phospholipase C, zeta 1									p.W204R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GCTCCATCCCAGCAGTCAATC	0.373																																							uc010sid.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(610-612)TGG>AGG		phospholipase C, zeta 1							156.0	129.0	138.0					12																	18865880		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18865880A>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.610T>A	12.37:g.18865880A>T	ENSP00000266505:p.Trp204Arg					PLCZ1_uc001rdv.3_Missense_Mutation_p.W100R|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_RNA	p.W204R	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			6	801	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		204			PI-PLC X-box.			Missense_Mutation	SNP	ENST00000266505.7	37	c.610T>A	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440550	0.83993	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541695	T;T;T	0.60548	0.18;0.18;0.18	5.19	5.19	0.71726	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.83543	0.5277	H	0.96720	3.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89037	0.3446	10	0.87932	D	0	.	14.3877	0.66956	1.0:0.0:0.0:0.0	.	204	Q86YW0	PLCZ1_HUMAN	R	204;202;67	ENSP00000266505:W204R;ENSP00000402358:W202R;ENSP00000443349:W67R	ENSP00000266505:W204R	W	-	1	0	PLCZ1	18757147	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.022000	0.93678	2.187000	0.69744	0.482000	0.46254	TGG		0.373	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		5	41	0	0	0	0.000602	0	5	41				
PDE3A	5139	broad.mit.edu	37	12	20766475	20766475	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:20766475G>T	ENST00000359062.3	+	3	1150	c.1110G>T	c.(1108-1110)gtG>gtT	p.V370V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	370				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4). {ECO:0000305}.	blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.V370V(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CACCAAACGTGTGCACATCCT	0.557																																							uc001reh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1108-1110)GTG>GTT		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						111.0	100.0	104.0					12																	20766475		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766475G>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1110G>T	12.37:g.20766475G>T							p.V370V	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			3	1132	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	370	HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).				O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.1110G>T	CCDS31754.1																																																																																				0.557	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			6	47	1	0	0.00116845	0.001168	0.00142726	6	47				
PRICKLE1	144165	broad.mit.edu	37	12	42866307	42866307	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:42866307C>T	ENST00000455697.1	-	2	297	c.12G>A	c.(10-12)gaG>gaA	p.E4E	PRICKLE1_ENST00000548696.1_Silent_p.E4E|PRICKLE1_ENST00000345127.3_Silent_p.E4E|PRICKLE1_ENST00000552240.1_Silent_p.E4E|PRICKLE1_ENST00000445766.2_Silent_p.E4E	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	4					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E4E(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TGGGCTCCATCTCCAAAGGCA	0.463																																							uc010skv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(10-12)GAG>GAA		prickle homolog 1							97.0	88.0	91.0					12																	42866307		2203	4300	6503	SO:0001819	synonymous_variant	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42866307C>T	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.12G>A	12.37:g.42866307C>T						PRICKLE1_uc001rnl.2_Silent_p.E4E|PRICKLE1_uc010skw.1_Silent_p.E4E|PRICKLE1_uc001rnm.2_Silent_p.E4E|PRICKLE1_uc009zka.2_5'UTR	p.E4E	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	2	299	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		4					Q14C83|Q71QF8|Q96N00	Silent	SNP	ENST00000455697.1	37	c.12G>A	CCDS8742.1																																																																																				0.463	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			4	41	0	0	0	0.001168	0	4	41				
ACVR1B	91	broad.mit.edu	37	12	52380697	52380697	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:52380697G>T	ENST00000257963.4	+	7	1309	c.1232G>T	c.(1231-1233)tGg>tTg	p.W411L	ACVR1B_ENST00000542485.1_Missense_Mutation_p.W359L|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000426655.2_Missense_Mutation_p.W411L|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.W452L|ACVR1B_ENST00000415850.2_Missense_Mutation_p.W411L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.W411L(1)|p.W452L(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTTGTATATTGGGAGATTGCT	0.428																																							uc001rzn.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(1231-1233)TGG>TTG		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						149.0	144.0	146.0					12																	52380697		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52380697G>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1232G>T	12.37:g.52380697G>T	ENSP00000257963:p.Trp411Leu					ACVR1B_uc001rzl.2_Missense_Mutation_p.W411L|ACVR1B_uc001rzm.2_Missense_Mutation_p.W411L|ACVR1B_uc010snn.1_Missense_Mutation_p.W452L	p.W411L	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	7	1274	+			411			Protein kinase.|Cytoplasmic (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1232G>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872653	0.91587	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96166	0.8750	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.996;0.996;0.998	D	0.96541	0.9400	10	0.87932	D	0	.	18.3723	0.90411	0.0:0.0:1.0:0.0	.	452;411;411;411	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	L	411;452;411;411;359	ENSP00000257963:W411L;ENSP00000442656:W452L;ENSP00000390477:W411L;ENSP00000397550:W411L;ENSP00000442885:W359L	ENSP00000257963:W411L	W	+	2	0	ACVR1B	50666964	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	9.657000	0.98554	2.668000	0.90789	0.563000	0.77884	TGG		0.428	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		11	83	1	0	2.80697e-09	0.000978	4.92087e-09	11	83				
KRT73	319101	broad.mit.edu	37	12	53012247	53012247	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:53012247G>C	ENST00000305748.3	-	1	96	c.62C>G	c.(61-63)tCc>tGc	p.S21C		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	21	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S21C(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCACAGCGGAGCAGCCGCT	0.637																																							uc001sas.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(61-63)TCC>TGC		keratin 73							37.0	45.0	42.0					12																	53012247		2203	4298	6501	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53012247G>C	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.62C>G	12.37:g.53012247G>C	ENSP00000307014:p.Ser21Cys						p.S21C	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	97	-			21			Head.|Gly-rich.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.62C>G	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674389	0.67928	.	.	ENSG00000186049	ENST00000305748	D	0.91792	-2.91	4.58	3.68	0.42216	.	0.000000	0.45361	D	0.000366	D	0.95430	0.8516	M	0.91872	3.25	0.39695	D	0.971106	D	0.60160	0.987	P	0.54372	0.75	D	0.96525	0.9388	10	0.87932	D	0	.	13.5919	0.61966	0.078:0.0:0.922:0.0	.	21	Q86Y46	K2C73_HUMAN	C	21	ENSP00000307014:S21C	ENSP00000307014:S21C	S	-	2	0	KRT73	51298514	1.000000	0.71417	0.984000	0.44739	0.831000	0.47069	4.396000	0.59684	1.218000	0.43458	0.655000	0.94253	TCC		0.637	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		4	46	0	0	0	0.000602	0	4	46				
OR9K2	441639	broad.mit.edu	37	12	55524048	55524048	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:55524048T>C	ENST00000305377.5	+	1	584	c.496T>C	c.(496-498)Tgt>Cgt	p.C166R		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C166R(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CACACGTCTGTGTACTCAGTT	0.468																																							uc010spe.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(496-498)TGT>CGT		olfactory receptor, family 9, subfamily K,							144.0	137.0	139.0					12																	55524048		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524048T>C	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.496T>C	12.37:g.55524048T>C	ENSP00000307598:p.Cys166Arg						p.C166R	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	496	+			166			Helical; Name=4; (Potential).		B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.496T>C	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.142811	0.37825	.	.	ENSG00000170605	ENST00000305377	T	0.00241	8.46	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.00637	0.0021	M	0.87180	2.865	0.43740	D	0.99623	D	0.89917	1.0	D	0.97110	1.0	T	0.70368	-0.4891	10	0.87932	D	0	-27.7613	12.9651	0.58480	0.0:0.0:0.0:1.0	.	166	Q8NGE7	OR9K2_HUMAN	R	166	ENSP00000307598:C166R	ENSP00000307598:C166R	C	+	1	0	OR9K2	53810315	1.000000	0.71417	0.981000	0.43875	0.643000	0.38383	5.516000	0.67055	2.223000	0.72356	0.528000	0.53228	TGT		0.468	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			8	63	0	0	0	0.004482	0	8	63				
MMP19	4327	broad.mit.edu	37	12	56234451	56234451	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:56234451C>A	ENST00000322569.4	-	4	611	c.520G>T	c.(520-522)Ggg>Tgg	p.G174W	MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000548629.1_Splice_Site_p.G151W|MMP19_ENST00000409200.3_Splice_Site_p.G174C|MMP19_ENST00000394182.1_5'Flank	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	174					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G174W(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	TGTTGCCTACCAGGCCCATCA	0.522																																							uc001sib.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(520-522)GGG>TGG		matrix metalloproteinase 19 isoform rasi-1							88.0	84.0	86.0					12																	56234451		2203	4300	6503	SO:0001630	splice_region_variant	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56234451C>A	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.520+1G>T	12.37:g.56234451C>A						MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.G174C	p.G174W	NM_002429	NP_002420	Q99542	MMP19_HUMAN			4	641	-			174					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.520G>T	CCDS8895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.921499|4.921499	0.92249|0.92249	.|.	.|.	ENSG00000123342|ENSG00000123342	ENST00000409200|ENST00000322569;ENST00000548629	T|T;T	0.23950|0.23950	1.88|1.88;1.93	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.65312|0.65312	0.2679|0.2679	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.97110	1.0|1.0	T|T	0.74349|0.74349	-0.3694|-0.3694	9|9	.|.	.|.	.|.	.|.	19.1569|19.1569	0.93514|0.93514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	174|174	B4E030|Q99542	.|MMP19_HUMAN	C|W	174|174;151	ENSP00000386625:G174C|ENSP00000313437:G174W;ENSP00000446979:G151W	.|.	G|G	-|-	1|1	0|0	MMP19|MMP19	54520718|54520718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	7.124000|7.124000	0.77185|0.77185	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GGC|GGG		0.522	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429	Missense_Mutation	8	73	1	0	2.17888e-05	0.006214	3.14511e-05	8	73				
DGKA	1606	broad.mit.edu	37	12	56330338	56330338	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:56330338A>G	ENST00000331886.5	+	2	505	c.51A>G	c.(49-51)caA>caG	p.Q17Q	DGKA_ENST00000551156.1_Silent_p.Q17Q|DGKA_ENST00000394147.1_Silent_p.Q17Q	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	17					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.Q17Q(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCAGCTGCAAAAATACATGG	0.527																																							uc001sij.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(49-51)CAA>CAG		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						87.0	80.0	82.0					12																	56330338		2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56330338A>G	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.51A>G	12.37:g.56330338A>G						DGKA_uc009zoc.1_Silent_p.Q17Q|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Silent_p.Q17Q|DGKA_uc009zoe.1_Silent_p.Q17Q|DGKA_uc001sik.2_Silent_p.Q17Q|DGKA_uc001sil.2_Silent_p.Q17Q|DGKA_uc001sim.2_Silent_p.Q17Q|DGKA_uc001sin.2_Silent_p.Q17Q|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	p.Q17Q	NM_001345	NP_001336	P23743	DGKA_HUMAN			2	315	+			17					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.51A>G	CCDS8896.1																																																																																				0.527	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			5	21	0	0	0	0.001168	0	5	21				
LRP1	4035	broad.mit.edu	37	12	57548038	57548038	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:57548038G>T	ENST00000243077.3	+	7	1355	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	LRP1_ENST00000554174.1_Missense_Mutation_p.V297L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	297					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.V297L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTTCTACTTTGTGGATGACAT	0.512																																							uc001snd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(889-891)GTG>TTG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						148.0	135.0	139.0					12																	57548038		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57548038G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.889G>T	12.37:g.57548038G>T	ENSP00000243077:p.Val297Leu					LRP1_uc001snc.1_Missense_Mutation_p.V297L	p.V297L	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	7	1355	+			297			Extracellular (Potential).|LDL-receptor class B 1.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.889G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191302	0.21954	.	.	ENSG00000123384	ENST00000243077;ENST00000554174	D;D	0.93247	-3.19;-3.19	4.63	4.63	0.57726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	D	0.000024	D	0.89808	0.6822	L	0.41124	1.26	0.42816	D	0.993978	B;B	0.21225	0.004;0.053	B;B	0.18263	0.005;0.021	D	0.87114	0.2187	10	0.41790	T	0.15	.	15.3664	0.74526	0.0:0.0:1.0:0.0	.	297;297	Q07954;Q6PJ72	LRP1_HUMAN;.	L	297	ENSP00000243077:V297L;ENSP00000451737:V297L	ENSP00000243077:V297L	V	+	1	0	LRP1	55834305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.010000	0.88615	2.309000	0.77851	0.557000	0.71058	GTG		0.512	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	90	1	0	0.00307968	0.00308	0.00367105	8	90				
LRP1	4035	broad.mit.edu	37	12	57573723	57573723	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:57573723G>T	ENST00000243077.3	+	30	5591	c.5125G>T	c.(5125-5127)Gtc>Ttc	p.V1709F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1709					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.V1709F(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGCCTTGTCGTCCACCCTCT	0.622																																							uc001snd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(5125-5127)GTC>TTC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						79.0	83.0	81.0					12																	57573723		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57573723G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5125G>T	12.37:g.57573723G>T	ENSP00000243077:p.Val1709Phe						p.V1709F	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	30	5591	+			1709			Extracellular (Potential).|LDL-receptor class B 14.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.5125G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819334	0.71028	.	.	ENSG00000123384	ENST00000243077	D	0.91631	-2.88	5.01	5.01	0.66863	Six-bladed beta-propeller, TolB-like (1);	0.100524	0.41938	D	0.000790	D	0.92873	0.7733	M	0.88512	2.96	0.80722	D	1	P	0.45768	0.866	B	0.38985	0.287	D	0.93830	0.7127	10	0.49607	T	0.09	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	1709	Q07954	LRP1_HUMAN	F	1709	ENSP00000243077:V1709F	ENSP00000243077:V1709F	V	+	1	0	LRP1	55859990	1.000000	0.71417	0.959000	0.39883	0.921000	0.55340	3.239000	0.51360	2.606000	0.88127	0.655000	0.94253	GTC		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		16	82	1	0	3.45872e-05	0.004007	4.95473e-05	16	82				
KIF5A	3798	broad.mit.edu	37	12	57975705	57975705	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:57975705G>T	ENST00000455537.2	+	26	3236	c.2962G>T	c.(2962-2964)Gct>Tct	p.A988S	KIF5A_ENST00000286452.5_Missense_Mutation_p.A899S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	988	Globular.				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.A988S(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						CGGCCCCTTGGCTTCCTACCA	0.537																																							uc001sor.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2962-2964)GCT>TCT		kinesin family member 5A							72.0	72.0	72.0					12																	57975705		2203	4300	6503	SO:0001583	missense	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.chr12:57975705G>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.2962G>T	12.37:g.57975705G>T	ENSP00000408979:p.Ala988Ser					KIF5A_uc010srr.1_Missense_Mutation_p.A899S|uc001sos.2_5'Flank	p.A988S	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			26	3170	+			988			Globular.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2962G>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681516	0.29872	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	T;T	0.73681	-0.77;-0.75	4.79	0.932	0.19466	.	0.574441	0.17411	N	0.175163	T	0.47173	0.1431	N	0.08118	0	0.24841	N	0.992467	B;B	0.23316	0.083;0.03	B;B	0.17433	0.018;0.018	T	0.25984	-1.0116	10	0.25106	T	0.35	.	4.999	0.14255	0.332:0.1443:0.5237:0.0	.	899;988	B7Z2M7;Q12840	.;KIF5A_HUMAN	S	988;899;82	ENSP00000408979:A988S;ENSP00000286452:A899S	ENSP00000286452:A899S	A	+	1	0	KIF5A	56261972	0.997000	0.39634	0.997000	0.53966	0.984000	0.73092	1.168000	0.31859	0.076000	0.16826	0.561000	0.74099	GCT		0.537	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		7	33	1	0	1.06961e-07	0.00308	1.76868e-07	7	33				
NAV3	89795	broad.mit.edu	37	12	78400781	78400781	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:78400781A>T	ENST00000397909.2	+	8	1636	c.1463A>T	c.(1462-1464)aAg>aTg	p.K488M	NAV3_ENST00000228327.6_Missense_Mutation_p.K488M|NAV3_ENST00000536525.2_Missense_Mutation_p.K488M|NAV3_ENST00000266692.7_Missense_Mutation_p.K488M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	488						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.K488M(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						AAAGAAGAGAAGGATCAGGTG	0.393										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1462-1464)AAG>ATG		neuron navigator 3							75.0	74.0	74.0					12																	78400781		1863	4103	5966	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400781A>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.1463A>T	12.37:g.78400781A>T	ENSP00000381007:p.Lys488Met	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.K488M	p.K488M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1636	+			488					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1463A>T		.	.	.	.	.	.	.	.	.	.	A	10.99	1.506887	0.26949	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.62941	-0.01;1.5;1.51;1.51;1.41	5.73	3.39	0.38822	.	0.000000	0.41712	U	0.000826	T	0.67915	0.2944	L	0.51422	1.61	0.80722	D	1	D;P	0.76494	0.999;0.904	P;P	0.59703	0.862;0.542	T	0.67047	-0.5769	10	0.62326	D	0.03	-8.9511	10.0899	0.42441	0.8646:0.0:0.1354:0.0	.	488;488	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	M	488	ENSP00000446628:K488M;ENSP00000446132:K488M;ENSP00000381007:K488M;ENSP00000228327:K488M;ENSP00000266692:K488M	ENSP00000228327:K488M	K	+	2	0	NAV3	76924912	1.000000	0.71417	0.989000	0.46669	0.029000	0.11900	2.561000	0.45905	0.455000	0.26910	-0.263000	0.10527	AAG		0.393	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	34	0	0	0	0.004482	0	8	34				
LRRIQ1	84125	broad.mit.edu	37	12	85449967	85449967	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:85449967A>T	ENST00000393217.2	+	8	1457	c.1396A>T	c.(1396-1398)Aaa>Taa	p.K466*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	466								p.K466*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGTAAAGTTAAAAGAATCTAT	0.308																																							uc001tac.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1396-1398)AAA>TAA		leucine-rich repeats and IQ motif containing 1							27.0	31.0	29.0					12																	85449967		2164	4267	6431	SO:0001587	stop_gained	84125							g.chr12:85449967A>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1396A>T	12.37:g.85449967A>T	ENSP00000376910:p.Lys466*					LRRIQ1_uc001tab.1_Nonsense_Mutation_p.K466*|LRRIQ1_uc001taa.1_Nonsense_Mutation_p.K441*	p.K466*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1507	+			466					Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	c.1396A>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.612614	0.66672	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	4.46	0.636	0.17729	.	0.406919	0.22101	N	0.064607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3595	0.07181	0.4918:0.2108:0.2974:0.0	.	.	.	.	X	466;441;466	.	ENSP00000256007:K466X	K	+	1	0	LRRIQ1	83974098	0.079000	0.21365	0.012000	0.15200	0.049000	0.14656	1.003000	0.29809	0.177000	0.19895	0.402000	0.26972	AAA		0.308	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		4	29	0	0	0	0.000602	0	4	29				
NTN4	59277	broad.mit.edu	37	12	96180796	96180796	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:96180796C>T	ENST00000343702.4	-	2	954	c.506G>A	c.(505-507)gGc>gAc	p.G169D	NTN4_ENST00000538383.1_Missense_Mutation_p.G132D|NTN4_ENST00000344911.4_Missense_Mutation_p.G132D|NTN4_ENST00000553059.1_Missense_Mutation_p.G169D	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	169	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)		p.G169D(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATCTTCCAGGCCAAATGTAGC	0.507																																							uc001tei.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(505-507)GGC>GAC		netrin 4 precursor							108.0	100.0	103.0					12																	96180796		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96180796C>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.506G>A	12.37:g.96180796C>T	ENSP00000340998:p.Gly169Asp					NTN4_uc009ztf.2_Missense_Mutation_p.G169D|NTN4_uc009ztg.2_Missense_Mutation_p.G132D	p.G169D	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			2	955	-			169			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.506G>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724457	0.68959	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.62	5.62	0.85841	Laminin, N-terminal (3);	0.052558	0.85682	D	0.000000	D	0.88489	0.6450	M	0.91038	3.17	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	D	0.89376	0.3678	10	0.46703	T	0.11	.	15.1801	0.72947	0.0:0.8595:0.1405:0.0	.	169;169	Q9HB63-2;Q9HB63	.;NET4_HUMAN	D	169;132;132;169;132	ENSP00000340998:G169D;ENSP00000339436:G132D;ENSP00000444432:G132D;ENSP00000447292:G169D;ENSP00000447594:G132D	ENSP00000340998:G169D	G	-	2	0	NTN4	94704927	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.515000	0.67049	2.650000	0.89964	0.555000	0.69702	GGC		0.507	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		4	48	0	0	0	0.000248	0	4	48				
NEDD1	121441	broad.mit.edu	37	12	97328946	97328946	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:97328946G>C	ENST00000266742.4	+	7	1021	c.682G>C	c.(682-684)Gat>Cat	p.D228H	NEDD1_ENST00000429527.2_Missense_Mutation_p.D228H|NEDD1_ENST00000557644.1_Missense_Mutation_p.D235H|NEDD1_ENST00000411739.2_Missense_Mutation_p.D139H|NEDD1_ENST00000457368.2_Missense_Mutation_p.D139H|NEDD1_ENST00000555114.1_3'UTR	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	228					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.D228H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CATAGGCTTGGATAAAAGAAT	0.363																																							uc001teu.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(682-684)GAT>CAT		neural precursor cell expressed, developmentally							147.0	144.0	145.0					12																	97328946		2203	4300	6503	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97328946G>C		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.682G>C	12.37:g.97328946G>C	ENSP00000266742:p.Asp228His					NEDD1_uc001tev.3_Missense_Mutation_p.D228H|NEDD1_uc010svc.1_Missense_Mutation_p.D139H|NEDD1_uc001tew.2_Missense_Mutation_p.D235H|NEDD1_uc001tex.2_Missense_Mutation_p.D139H	p.D228H	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			7	1021	+			228			WD 6.		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.682G>C	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904424	0.92035	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000553609;ENST00000557644;ENST00000457368	T;T;T;T;T;T	0.50548	0.82;0.82;0.74;0.82;0.82;0.74	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86904	0.2056	10	0.87932	D	0	.	19.8594	0.96778	0.0:0.0:1.0:0.0	.	235;228	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	H	228;228;139;139;235;139	ENSP00000266742:D228H;ENSP00000404978:D228H;ENSP00000411307:D139H;ENSP00000451830:D139H;ENSP00000451211:D235H;ENSP00000407964:D139H	ENSP00000266742:D228H	D	+	1	0	NEDD1	95853077	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.247000	0.95444	2.691000	0.91804	0.650000	0.86243	GAT		0.363	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			8	63	0	0	0	0.004482	0	8	63				
NT5DC3	51559	broad.mit.edu	37	12	104200708	104200708	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:104200708C>G	ENST00000392876.3	-	3	434		c.e3-1			NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3							cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.?(2)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CTGCTGGATACTAAGAAAGAA	0.428																																							uc010swe.1		NA																	2	Unknown(2)		lung(2)	ovary(2)|skin(1)	3						c.e3-1		5'-nucleotidase domain containing 3							100.0	96.0	98.0					12																	104200708		2203	4300	6503	SO:0001630	splice_region_variant	51559						hydrolase activity|metal ion binding	g.chr12:104200708C>G	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.394-1G>C	12.37:g.104200708C>G							p.Y132_splice	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			3	435	-								Q9NUM7|Q9P2T2|Q9P2T3	Splice_Site	SNP	ENST00000392876.3	37	c.394_splice	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697001	0.68386	.	.	ENSG00000111696	ENST00000392876	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NT5DC3	102724838	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.419000	0.80179	2.775000	0.95449	0.655000	0.94253	.		0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575	Intron	5	38	0	0	0	0.000602	0	5	38				
WSCD2	9671	broad.mit.edu	37	12	108603991	108603991	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:108603991G>C	ENST00000332082.4	+	5	1409	c.591G>C	c.(589-591)atG>atC	p.M197I	WSCD2_ENST00000261400.3_Missense_Mutation_p.M197I|WSCD2_ENST00000549903.1_Missense_Mutation_p.M197I|WSCD2_ENST00000547525.1_Missense_Mutation_p.M197I			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	197	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.M197I(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGTGCGACATGGAGTGCAAGG	0.682																																							uc001tms.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(589-591)ATG>ATC		WSC domain containing 2							29.0	36.0	34.0					12																	108603991		2202	4296	6498	SO:0001583	missense	9671					integral to membrane		g.chr12:108603991G>C		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.591G>C	12.37:g.108603991G>C	ENSP00000331933:p.Met197Ile					WSCD2_uc001tmt.2_Missense_Mutation_p.M197I	p.M197I	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			4	1335	+			197			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.591G>C	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645992	0.47258	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.12	5.12	0.69794	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.53249	1.67	0.80722	D	1	B	0.16396	0.017	B	0.22152	0.038	T	0.43766	-0.9371	10	0.23891	T	0.37	-46.3384	17.1039	0.86657	0.0:0.0:1.0:0.0	.	197	Q2TBF2	WSCD2_HUMAN	I	197;197;44;197;197	ENSP00000448047:M197I;ENSP00000261400:M197I;ENSP00000446744:M44I;ENSP00000331933:M197I;ENSP00000447272:M197I	ENSP00000261400:M197I	M	+	3	0	WSCD2	107128121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.162000	0.77515	2.379000	0.81126	0.555000	0.69702	ATG		0.682	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		7	25	0	0	0	0.001984	0	7	25				
PTPN11	5781	broad.mit.edu	37	12	112939999	112939999	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:112939999G>A	ENST00000351677.2	+	14	1849	c.1651G>A	c.(1651-1653)Gac>Aac	p.D551N		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	555					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.D551N(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTCTCTAGCGGACCAGACGAG	0.453			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																														uc001ttx.2		NA		Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						c.(1651-1653)GAC>AAC		protein tyrosine phosphatase, non-receptor type							95.0	98.0	97.0					12																	112939999		2203	4300	6503	SO:0001583	missense	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112939999G>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1651G>A	12.37:g.112939999G>A	ENSP00000340944:p.Asp551Asn						p.D551N	NM_002834	NP_002825	Q06124	PTN11_HUMAN			14	2031	+			555					A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1651G>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273072	0.80580	.	.	ENSG00000179295	ENST00000351677	T	0.09911	2.93	5.38	5.38	0.77491	.	0.208224	0.49305	D	0.000154	T	0.08492	0.0211	N	0.08118	0	0.58432	D	0.999999	B	0.32071	0.355	B	0.36845	0.234	T	0.45469	-0.9259	10	0.25106	T	0.35	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	551	Q06124-2	.	N	551	ENSP00000340944:D551N	ENSP00000340944:D551N	D	+	1	0	PTPN11	111424382	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	8.945000	0.92985	2.507000	0.84556	0.655000	0.94253	GAC		0.453	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			6	62	0	0	0	0.00308	0	6	62				
RASAL1	8437	broad.mit.edu	37	12	113553489	113553489	+	Silent	SNP	C	C	T	rs137930457	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:113553489C>T	ENST00000261729.5	-	11	1269	c.954G>A	c.(952-954)ctG>ctA	p.L318L	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.L318L|RASAL1_ENST00000546530.1_Silent_p.L318L|RASAL1_ENST00000548055.1_Silent_p.L318L			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	318	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.L318L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCGCCCAGCCAGTCCCCGGC	0.627																																							uc001tum.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(952-954)CTG>CTA		RAS protein activator like 1							54.0	56.0	55.0					12																	113553489		2203	4300	6503	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553489C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.954G>A	12.37:g.113553489C>T						RASAL1_uc010syp.1_Silent_p.L318L|RASAL1_uc001tul.2_Silent_p.L318L|RASAL1_uc001tun.1_Silent_p.L318L|RASAL1_uc010syq.1_Silent_p.L318L|RASAL1_uc001tuo.3_Silent_p.L318L|RASAL1_uc010syr.1_Silent_p.L318L	p.L318L	NM_004658	NP_004649	O95294	RASL1_HUMAN			11	1247	-			318			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.954G>A	CCDS9165.1																																																																																				0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		4	16	0	0	0	0.000248	0	4	16				
RBM19	9904	broad.mit.edu	37	12	114377880	114377880	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:114377880C>A	ENST00000545145.2	-	15	1901	c.1823G>T	c.(1822-1824)gGc>gTc	p.G608V	RBM19_ENST00000261741.5_Missense_Mutation_p.G608V|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000392561.3_Missense_Mutation_p.G608V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	608	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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.G608V(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)					GCCAAAATGGCCGAAGGTCTC	0.632																																							uc009zwi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(1822-1824)GGC>GTC		RNA binding motif protein 19							64.0	69.0	67.0					12																	114377880		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377880C>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.1823G>T	12.37:g.114377880C>A	ENSP00000442053:p.Gly608Val					RBM19_uc001tvn.3_Missense_Mutation_p.G608V|RBM19_uc001tvm.2_Missense_Mutation_p.G608V	p.G608V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			15	1967	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		608			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1823G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	7.758	0.704794	0.15172	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09255	3.0;3.0;3.0	4.3	3.39	0.38822	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.282263	0.34002	N	0.004358	T	0.12732	0.0309	L	0.60957	1.885	0.43756	D	0.996262	B	0.25272	0.122	B	0.32980	0.156	T	0.04900	-1.0919	10	0.34782	T	0.22	-14.8277	8.3079	0.32053	0.0:0.7605:0.1536:0.0859	.	608	Q9Y4C8	RBM19_HUMAN	V	608	ENSP00000442053:G608V;ENSP00000376344:G608V;ENSP00000261741:G608V	ENSP00000261741:G608V	G	-	2	0	RBM19	112862263	0.967000	0.33354	0.197000	0.23402	0.042000	0.13812	4.640000	0.61368	1.964000	0.57103	0.561000	0.74099	GGC		0.632	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		14	66	1	0	1.52009e-12	0.003163	2.85898e-12	14	66				
TBX3	6926	broad.mit.edu	37	12	115112511	115112511	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:115112511G>A	ENST00000257566.3	-	7	1618	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	TBX3_ENST00000349155.2_Missense_Mutation_p.P390L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	410					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P410L(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTTGACCGCGGGGCTGCCCTT	0.701																																							uc001tvt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1228-1230)CCC>CTC		T-box 3 protein isoform 2							15.0	16.0	15.0					12																	115112511		2196	4281	6477	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115112511G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1229C>T	12.37:g.115112511G>A	ENSP00000257566:p.Pro410Leu					TBX3_uc001tvu.1_Missense_Mutation_p.P390L	p.P410L	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2193	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		410					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1229C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918575	0.33908	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88975	-2.45;-2.44	4.99	4.99	0.66335	Transcription factor, T-box, region of unknown function (1);	4.659220	0.01760	U	0.030525	D	0.88880	0.6557	L	0.38838	1.175	0.47905	D	0.999548	B;B	0.27882	0.006;0.192	B;B	0.35413	0.02;0.202	T	0.67589	-0.5632	10	0.72032	D	0.01	.	13.769	0.63012	0.0:0.1666:0.8334:0.0	.	390;410	O15119-2;O15119	.;TBX3_HUMAN	L	390;410;410	ENSP00000257567:P390L;ENSP00000257566:P410L	ENSP00000257566:P410L	P	-	2	0	TBX3	113596894	0.989000	0.36119	0.952000	0.39060	0.208000	0.24298	4.245000	0.58734	2.310000	0.77875	0.591000	0.81541	CCC		0.701	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		3	9	0	0	0	0.004672	0	3	9				
FBXO21	23014	broad.mit.edu	37	12	117604703	117604703	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:117604703C>A	ENST00000330622.5	-	8	1192	c.1193G>T	c.(1192-1194)cGg>cTg	p.R398L	FBXO21_ENST00000427718.2_Splice_Site_p.R398L			O94952	FBX21_HUMAN	F-box protein 21	398					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.R398L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AAAACCTTACCGCTTCCCCAG	0.458																																					GBM(168;452 2038 13535 17701 43680)	GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1192-1194)CGG>CTG		F-box only protein 21 isoform 1							163.0	150.0	154.0					12																	117604703		2203	4300	6503	SO:0001630	splice_region_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117604703C>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1193+1G>T	12.37:g.117604703C>A						FBXO21_uc001twj.2_Missense_Mutation_p.R398L|FBXO21_uc009zwq.2_Intron|FBXO21_uc001twl.1_Missense_Mutation_p.R11L	p.R398L	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	8	1232	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		398					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1193G>T	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508654	0.96386	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000330622;ENST00000548840	T;T	0.52754	0.73;0.65	5.93	5.93	0.95920	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	N	0.08118	0	0.80722	D	1	B;D;D	0.67145	0.322;0.993;0.996	B;D;D	0.79108	0.055;0.982;0.992	T	0.53012	-0.8498	9	.	.	.	-13.0719	20.3539	0.98825	0.0:1.0:0.0:0.0	.	148;398;398	B3KQC8;O94952;O94952-1	.;FBX21_HUMAN;.	L	398;314;398;50	ENSP00000414468:R398L;ENSP00000328187:R398L	.	R	-	2	0	FBXO21	116089086	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.999000	0.76283	2.826000	0.97356	0.655000	0.94253	CGG		0.458	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624	Missense_Mutation	9	55	1	0	0.00448238	0.004482	0.00529312	9	55				
ABCB9	23457	broad.mit.edu	37	12	123428991	123428991	+	Missense_Mutation	SNP	C	C	A	rs147318444		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:123428991C>A	ENST00000542678.1	-	7	4165	c.1327G>T	c.(1327-1329)Ggc>Tgc	p.G443C	ABCB9_ENST00000346530.5_Intron|ABCB9_ENST00000442028.2_Missense_Mutation_p.G443C|ABCB9_ENST00000442833.2_Missense_Mutation_p.G443C|ABCB9_ENST00000280560.8_Missense_Mutation_p.G443C|ABCB9_ENST00000344275.7_Missense_Mutation_p.G443C|ABCB9_ENST00000392439.3_Missense_Mutation_p.G443C|ABCB9_ENST00000540285.1_Missense_Mutation_p.G443C|ABCB9_ENST00000541983.1_5'UTR			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	443	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)	p.G443C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ATGAGGTTGCCGCTGGTCATC	0.582																																					Ovarian(49;786 1333 9175 38236)	Ovarian(49;786 1333 9175 38236)	uc001udm.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1327-1329)GGC>TGC		ATP-binding cassette, sub-family B (MDR/TAP),							170.0	145.0	153.0					12																	123428991		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123428991C>A	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1327G>T	12.37:g.123428991C>A	ENSP00000440288:p.Gly443Cys					ABCB9_uc010tai.1_Missense_Mutation_p.G50C|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Intron|ABCB9_uc010taj.1_Missense_Mutation_p.G443C|ABCB9_uc001udp.2_Missense_Mutation_p.G443C|ABCB9_uc001udq.2_Missense_Mutation_p.G225C|ABCB9_uc001udr.2_Missense_Mutation_p.G443C	p.G443C	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	7	1637	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		443			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1327G>T	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076465	0.94000	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000546289;ENST00000542448;ENST00000545373;ENST00000540971;ENST00000536976;ENST00000546077	D;D;D;D;D;D;D;D;D;D;D	0.95690	-2.19;-3.78;-2.19;-2.19;-2.19;-3.78;-2.19;-2.19;-2.19;-2.19;-2.19	5.36	5.36	0.76844	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98466	0.9489	M	0.94142	3.5	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.997	D;D;D;D;D	0.97110	1.0;0.948;0.989;1.0;0.984	D	0.99616	1.0982	10	0.87932	D	0	-38.2173	18.684	0.91557	0.0:1.0:0.0:0.0	.	443;50;443;225;443	B4E2J0;B4DFR8;Q9NP78-3;B3KNJ8;Q9NP78	.;.;.;.;ABCB9_HUMAN	C	443;443;443;443;443;50;69;50;149;205;100	ENSP00000280560:G443C;ENSP00000441734:G443C;ENSP00000376234:G443C;ENSP00000440288:G443C;ENSP00000394898:G443C;ENSP00000442281:G50C;ENSP00000440244:G69C;ENSP00000444834:G50C;ENSP00000441086:G149C;ENSP00000443433:G205C;ENSP00000443224:G100C	ENSP00000280560:G443C	G	-	1	0	ABCB9	121994944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.085000	0.71343	2.471000	0.83476	0.650000	0.86243	GGC		0.582	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		4	74	1	0	0.000602214	0.000602	0.000754262	4	74				
RNF17	56163	broad.mit.edu	37	13	25362201	25362201	+	Silent	SNP	C	C	T	rs79685389		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:25362201C>T	ENST00000255324.5	+	7	739	c.687C>T	c.(685-687)taC>taT	p.Y229Y	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.Y229Y|RNF17_ENST00000255325.6_Silent_p.Y229Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	229					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Y229Y(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTAAAAGCTACATTGAAGAGA	0.308																																							uc001upr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(685-687)TAC>TAT		ring finger protein 17							52.0	57.0	55.0					13																	25362201		2203	4291	6494	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25362201C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.687C>T	13.37:g.25362201C>T						RNF17_uc010tdd.1_Silent_p.Y88Y|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.Y229Y|RNF17_uc001ups.2_Silent_p.Y168Y|RNF17_uc001upq.1_Silent_p.Y229Y	p.Y229Y	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	7	728	+		Lung SC(185;0.0225)|Breast(139;0.077)	229					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.687C>T	CCDS9308.2																																																																																				0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		5	66	0	0	0	0.000602	0	5	66				
ATP8A2	51761	broad.mit.edu	37	13	26128042	26128042	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:26128042C>A	ENST00000381655.2	+	12	1311	c.1169C>A	c.(1168-1170)gCc>gAc	p.A390D	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A350D	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	350					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A390D(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TATACTCAAGCCCTTTTCATA	0.363																																							uc001uqk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1168-1170)GCC>GAC		ATPase, aminophospholipid transporter-like,							150.0	137.0	141.0					13																	26128042		1861	4092	5953	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26128042C>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1169C>A	13.37:g.26128042C>A	ENSP00000371070:p.Ala390Asp					ATP8A2_uc010tdi.1_Missense_Mutation_p.A350D|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.A350D	p.A390D	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	12	1311	+		Breast(139;0.0201)|Lung SC(185;0.0225)	350			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.1169C>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892703	0.91889	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.91011	-2.77;-2.77	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.97523	0.9189	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.984;0.997	D	0.98696	1.0698	10	0.87932	D	0	.	19.1713	0.93578	0.0:1.0:0.0:0.0	.	350;350;350	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	D	390;350;170	ENSP00000371070:A390D;ENSP00000255283:A350D	ENSP00000255283:A350D	A	+	2	0	ATP8A2	25026042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.601000	0.82783	2.768000	0.95171	0.643000	0.83706	GCC		0.363	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		15	67	1	0	2.31682e-05	0.003163	3.32732e-05	15	67				
FLT1	2321	broad.mit.edu	37	13	29008344	29008344	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:29008344G>A	ENST00000282397.4	-	5	778	c.527C>T	c.(526-528)aCt>aTt	p.T176I	FLT1_ENST00000539099.1_Missense_Mutation_p.T176I|FLT1_ENST00000541932.1_Missense_Mutation_p.T176I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	176	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|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 MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|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 receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.T176I(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGATCAAAGTGTCAAGTGG	0.413																																							uc001usb.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(526-528)ACT>ATT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						122.0	102.0	109.0					13																	29008344		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29008344G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.527C>T	13.37:g.29008344G>A	ENSP00000282397:p.Thr176Ile					FLT1_uc010aar.1_Missense_Mutation_p.T176I|FLT1_uc001usc.3_Missense_Mutation_p.T176I|FLT1_uc010tdp.1_Missense_Mutation_p.T176I	p.T176I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	5	812	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	176			Ig-like C2-type 2.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.527C>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	8.582	0.882635	0.17467	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.03772	3.81;3.81;3.81	5.78	2.04	0.26737	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.549745	0.19191	N	0.120427	T	0.04952	0.0133	L	0.53249	1.67	0.09310	N	1	B;B;B;B	0.18013	0.025;0.025;0.025;0.003	B;B;B;B	0.20577	0.03;0.03;0.03;0.017	T	0.39901	-0.9591	10	0.32370	T	0.25	.	3.5098	0.07704	0.1809:0.1128:0.5763:0.1301	.	176;176;176;176	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	I	176	ENSP00000282397:T176I;ENSP00000437631:T176I;ENSP00000442630:T176I	ENSP00000282397:T176I	T	-	2	0	FLT1	27906344	0.007000	0.16637	0.000000	0.03702	0.579000	0.36224	1.001000	0.29783	0.068000	0.16574	0.650000	0.86243	ACT		0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			9	38	0	0	0	0.006214	0	9	38				
SOHLH2	54937	broad.mit.edu	37	13	36748988	36748988	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:36748988G>A	ENST00000379881.3	-	7	748	c.660C>T	c.(658-660)tgC>tgT	p.C220C	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.C297C|SOHLH2_ENST00000554962.1_Silent_p.C297C	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	220	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C220C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GCTGCTCACAGCAATATTTGA	0.403																																							uc001uvj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(658-660)TGC>TGT		spermatogenesis and oogenesis specific basic							70.0	67.0	68.0					13																	36748988		2203	4300	6503	SO:0001819	synonymous_variant	54937				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding	g.chr13:36748988G>A	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.660C>T	13.37:g.36748988G>A						SOHLH2_uc010tei.1_Silent_p.C297C	p.C220C	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	7	749	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	220			Basic motif.		B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	c.660C>T	CCDS9355.1																																																																																				0.403	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		9	42	0	0	0	0.006214	0	9	42				
CCNA1	8900	broad.mit.edu	37	13	37015285	37015285	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:37015285G>C	ENST00000255465.4	+	7	1393	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	CCNA1_ENST00000418263.1_Missense_Mutation_p.D376H|CCNA1_ENST00000449823.1_Missense_Mutation_p.D333H|CCNA1_ENST00000440264.1_Missense_Mutation_p.D333H			P78396	CCNA1_HUMAN	cyclin A1	377					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)		p.D377H(1)		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)		ACTTGAAGCAGATCCATTCTT	0.403																																							uc001uvr.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(1129-1131)GAT>CAT		cyclin A1 isoform a							162.0	138.0	147.0					13																	37015285		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.chr13:37015285G>C	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.1129G>C	13.37:g.37015285G>C	ENSP00000255465:p.Asp377His					CCNA1_uc010teo.1_Missense_Mutation_p.D333H|CCNA1_uc010abq.2_Missense_Mutation_p.D333H|CCNA1_uc010abp.2_Missense_Mutation_p.D333H|CCNA1_uc001uvs.3_Missense_Mutation_p.D376H|CCNA1_uc010abr.2_RNA	p.D377H	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)	7	1479	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	377					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.1129G>C	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537204	0.65085	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.52	4.66	0.58398	Cyclin, C-terminal (1);Cyclin-like (3);	0.160499	0.56097	D	0.000029	T	0.45377	0.1339	M	0.67569	2.06	0.54753	D	0.999984	P;B	0.50819	0.939;0.437	P;P	0.56700	0.804;0.466	T	0.50215	-0.8854	10	0.87932	D	0	.	16.5853	0.84726	0.0:0.1306:0.8694:0.0	.	376;377	P78396-2;P78396	.;CCNA1_HUMAN	H	333;333;376;377	ENSP00000400666:D333H;ENSP00000409873:D333H;ENSP00000396479:D376H;ENSP00000255465:D377H	ENSP00000255465:D377H	D	+	1	0	CCNA1	35913285	1.000000	0.71417	0.994000	0.49952	0.699000	0.40488	6.360000	0.73064	1.433000	0.47394	0.655000	0.94253	GAT		0.403	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		6	45	0	0	0	0.001168	0	6	45				
VWA8	23078	broad.mit.edu	37	13	42263515	42263515	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:42263515A>C	ENST00000379310.3	-	34	4174	c.4106T>G	c.(4105-4107)aTa>aGa	p.I1369R	VWA8_ENST00000478987.1_5'Flank	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1369						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I1369R(1)									ACCAACAACTATTGTAGCATA	0.358																																							uc001uyj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(4105-4107)ATA>AGA		hypothetical protein LOC23078 isoform a							102.0	92.0	95.0					13																	42263515		1817	4077	5894	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42263515A>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4106T>G	13.37:g.42263515A>C	ENSP00000368612:p.Ile1369Arg						p.I1369R	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	34	4176	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1369					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.4106T>G	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876331	0.72180	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.13778	2.56	4.98	4.98	0.66077	.	0.445946	0.23420	N	0.048367	T	0.13415	0.0325	N	0.24115	0.695	0.80722	D	1	P	0.37955	0.612	B	0.41088	0.347	T	0.06516	-1.0822	10	0.66056	D	0.02	.	14.9486	0.71054	1.0:0.0:0.0:0.0	.	1369	A3KMH1	K0564_HUMAN	R	1273;1369	ENSP00000368612:I1369R	ENSP00000251030:I1273R	I	-	2	0	KIAA0564	41161515	0.990000	0.36364	0.122000	0.21767	0.926000	0.56050	8.532000	0.90613	1.994000	0.58287	0.477000	0.44152	ATA		0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		6	27	0	0	0	0.001168	0	6	27				
VWA8	23078	broad.mit.edu	37	13	42263517	42263517	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:42263517T>A	ENST00000379310.3	-	34	4172	c.4104A>T	c.(4102-4104)acA>acT	p.T1368T	VWA8_ENST00000478987.1_5'Flank	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1368						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T1368T(1)									CAACAACTATTGTAGCATAAT	0.358																																							uc001uyj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(4102-4104)ACA>ACT		hypothetical protein LOC23078 isoform a							103.0	93.0	96.0					13																	42263517		1816	4077	5893	SO:0001819	synonymous_variant	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42263517T>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4104A>T	13.37:g.42263517T>A							p.T1368T	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	34	4174	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1368					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.4104A>T	CCDS41881.1																																																																																				0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		5	28	0	0	0	0.000602	0	5	28				
TSC22D1	8848	broad.mit.edu	37	13	45148670	45148670	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:45148670C>A	ENST00000458659.2	-	1	2031	c.1541G>T	c.(1540-1542)gGt>gTt	p.G514V	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Missense_Mutation_p.G514V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	514	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G514V(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAGGGTCACACCTTGGAGAGC	0.498																																							uc001uzn.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1540-1542)GGT>GTT		TSC22 domain family, member 1 isoform 1							101.0	104.0	103.0					13																	45148670		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148670C>A	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1541G>T	13.37:g.45148670C>A	ENSP00000397435:p.Gly514Val					TSC22D1_uc001uzo.1_Missense_Mutation_p.G514V	p.G514V	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2032	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	514			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1541G>T	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240024	0.39598	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T	0.35789	1.29	4.88	3.97	0.46021	.	0.000000	0.56097	D	0.000021	T	0.26159	0.0638	L	0.27053	0.805	0.80722	D	1	B;B	0.24882	0.033;0.113	B;B	0.26202	0.067;0.048	T	0.04440	-1.0951	10	0.25106	T	0.35	.	13.9376	0.64034	0.1523:0.8477:0.0:0.0	.	514;514	B3KRL7;Q15714	.;T22D1_HUMAN	V	514	ENSP00000397435:G514V	ENSP00000397435:G514V	G	-	2	0	TSC22D1	44046670	0.998000	0.40836	0.999000	0.59377	0.794000	0.44872	1.389000	0.34453	2.698000	0.92095	0.491000	0.48974	GGT		0.498	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		13	83	1	0	4.3838e-07	0.001855	6.98457e-07	13	83				
SPERT	220082	broad.mit.edu	37	13	46276958	46276958	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:46276958C>G	ENST00000310521.1	+	2	204	c.124C>G	c.(124-126)Cta>Gta	p.L42V	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	42						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.L42V(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ATCTGAAAGCCTAGAAATTCC	0.438																																							uc001van.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(124-126)CTA>GTA		spermatid associated							61.0	62.0	61.0					13																	46276958		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46276958C>G	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.124C>G	13.37:g.46276958C>G	ENSP00000309189:p.Leu42Val					SPERT_uc001vao.2_5'Flank	p.L42V	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	204	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	42					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.124C>G	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456644	0.26161	.	.	ENSG00000174015	ENST00000310521	T	0.56776	0.44	4.46	2.72	0.32119	.	0.450868	0.16534	N	0.210231	T	0.32406	0.0828	N	0.22421	0.69	0.80722	D	1	B	0.15930	0.015	B	0.17433	0.018	T	0.05716	-1.0868	10	0.15066	T	0.55	.	6.2683	0.20941	0.0:0.7132:0.1872:0.0995	.	42	Q8NA61	SPERT_HUMAN	V	42	ENSP00000309189:L42V	ENSP00000309189:L42V	L	+	1	2	SPERT	45174959	0.590000	0.26815	0.992000	0.48379	0.919000	0.55068	0.025000	0.13577	0.794000	0.33899	0.655000	0.94253	CTA		0.438	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		6	38	0	0	0	0.001168	0	6	38				
ZC3H13	23091	broad.mit.edu	37	13	46542960	46542960	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:46542960C>G	ENST00000242848.4	-	14	4067	c.3719G>C	c.(3718-3720)aGc>aCc	p.S1240T	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S1240T|ZC3H13_ENST00000378921.2_Missense_Mutation_p.S196T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1240	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1240T(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATTTCCAGGCTTTTTGTTTT	0.428																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(3718-3720)AGC>ACC		zinc finger CCCH-type containing 13							159.0	159.0	159.0					13																	46542960		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46542960C>G	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3719G>C	13.37:g.46542960C>G	ENSP00000242848:p.Ser1240Thr					ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.S1240T|ZC3H13_uc001vat.1_Missense_Mutation_p.S1240T	p.S1240T	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	13	3725	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1240			Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3719G>C		.	.	.	.	.	.	.	.	.	.	C	14.05	2.418495	0.42918	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.32515	2.44;1.91;1.45	5.44	5.44	0.79542	.	0.078901	0.53938	D	0.000050	T	0.23054	0.0557	L	0.27053	0.805	0.32440	N	0.546926	B;P	0.36837	0.435;0.571	B;B	0.33392	0.078;0.163	T	0.32851	-0.9891	10	0.62326	D	0.03	.	14.8719	0.70465	0.0:0.9288:0.0:0.0711	.	1240;1240	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	T	1240;196;1240	ENSP00000242848:S1240T;ENSP00000368201:S196T;ENSP00000282007:S1240T	ENSP00000242848:S1240T	S	-	2	0	ZC3H13	45440961	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.650000	0.46665	2.723000	0.93209	0.591000	0.81541	AGC		0.428	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		15	118	0	0	0	0.003163	0	15	118				
INTS6	26512	broad.mit.edu	37	13	51942033	51942033	+	Splice_Site	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:51942033T>C	ENST00000311234.4	-	17	2950	c.2478A>G	c.(2476-2478)aaA>aaG	p.K826K	INTS6_ENST00000398119.2_Splice_Site_p.K813K|INTS6_ENST00000425000.1_Splice_Site_p.K394K|INTS6_ENST00000490542.1_Splice_Site_p.K510K|INTS6_ENST00000497989.1_Splice_Site_p.K648K|INTS6_ENST00000463928.1_3'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	826					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.K826K(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TTCTTTCATATTCTTAAAGCA	0.264																																							uc001vfk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(2476-2478)AAA>AAG		integrator complex subunit 6 isoform a							61.0	58.0	59.0					13																	51942033		2201	4280	6481	SO:0001630	splice_region_variant	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51942033T>C	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2477-1A>G	13.37:g.51942033T>C						INTS6_uc001vfi.2_Silent_p.K510K|INTS6_uc001vfj.2_Silent_p.K813K|INTS6_uc001vfl.2_Silent_p.K648K	p.K826K	NM_012141	NP_036273	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	17	3092	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	826					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	ENST00000311234.4	37	c.2478A>G	CCDS9428.1																																																																																				0.264	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	Silent	4	20	0	0	0	0.000248	0	4	20				
THSD1	55901	broad.mit.edu	37	13	52952445	52952445	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:52952445C>A	ENST00000258613.4	-	5	1838	c.1660G>T	c.(1660-1662)Gtg>Ttg	p.V554L	THSD1_ENST00000544466.1_Missense_Mutation_p.V175L|THSD1_ENST00000349258.4_Missense_Mutation_p.V501L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	554					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.V554L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCTGAGACACGTGATACACT	0.517																																							uc001vgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1660-1662)GTG>TTG		thrombospondin type I domain-containing 1							113.0	116.0	115.0					13																	52952445		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952445C>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1660G>T	13.37:g.52952445C>A	ENSP00000258613:p.Val554Leu					THSD1_uc001vgp.2_Missense_Mutation_p.V501L|THSD1_uc010tgz.1_Missense_Mutation_p.V175L|THSD1_uc010aea.2_Missense_Mutation_p.V15L	p.V554L	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2205	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	554			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1660G>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	c	19.54	3.846262	0.71603	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.54866	1.2;0.55;1.38	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.72894	2.215	0.80722	D	1	P;B	0.35468	0.503;0.122	B;B	0.40199	0.322;0.071	T	0.65236	-0.6217	10	0.87932	D	0	-21.8857	18.1045	0.89516	0.0:1.0:0.0:0.0	.	501;554	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	L	501;175;554	ENSP00000340650:V501L;ENSP00000438512:V175L;ENSP00000258613:V554L	ENSP00000258613:V554L	V	-	1	0	THSD1	51850446	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.011000	0.76359	2.513000	0.84729	0.650000	0.86243	GTG		0.517	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			22	91	1	0	7.87624e-14	0.00278	1.50884e-13	22	91				
MYCBP2	23077	broad.mit.edu	37	13	77663000	77663000	+	Silent	SNP	T	T	A	rs374982453		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:77663000T>A	ENST00000544440.2	-	61	10595	c.10578A>T	c.(10576-10578)ctA>ctT	p.L3526L	MYCBP2_ENST00000357337.6_Silent_p.L3526L|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000407578.2_Silent_p.L3564L|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase									p.L3564L(1)|p.L3526L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAGATTTCCTTAGGGCCTGTT	0.348																																							uc001vkf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(10576-10578)CTA>CTT		MYC binding protein 2							92.0	91.0	91.0					13																	77663000		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77663000T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10578A>T	13.37:g.77663000T>A						MYCBP2_uc010aev.2_Silent_p.L2930L|MYCBP2_uc001vke.2_Silent_p.L146L	p.L3526L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	62	10669	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3526						Silent	SNP	ENST00000544440.2	37	c.10578A>T																																																																																					0.348	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		16	60	0	0	0	0.00499	0	16	60				
MYCBP2	23077	broad.mit.edu	37	13	77669677	77669677	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:77669677C>G	ENST00000544440.2	-	58	9918	c.9901G>C	c.(9901-9903)Gaa>Caa	p.E3301Q	MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3301Q|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E3339Q|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase									p.E3301Q(1)|p.E3339Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGGTGAGCTTCCATGGTGGGC	0.473																																							uc001vkf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(9901-9903)GAA>CAA		MYC binding protein 2							116.0	115.0	115.0					13																	77669677		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77669677C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9901G>C	13.37:g.77669677C>G	ENSP00000444596:p.Glu3301Gln					MYCBP2_uc010aev.2_Missense_Mutation_p.E2705Q|MYCBP2_uc001vke.2_5'Flank	p.E3301Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	59	9992	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3301						Missense_Mutation	SNP	ENST00000544440.2	37	c.9901G>C		.	.	.	.	.	.	.	.	.	.	C	25.1	4.605897	0.87157	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.35236	1.32;1.32;1.32	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	L	0.51914	1.62	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.53173	-0.8476	10	0.66056	D	0.02	.	18.4033	0.90525	0.0:1.0:0.0:0.0	.	3301	O75592	MYCB2_HUMAN	Q	3301;3339;3301	ENSP00000349892:E3301Q;ENSP00000384288:E3339Q;ENSP00000444596:E3301Q	ENSP00000349892:E3301Q	E	-	1	0	MYCBP2	76567678	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.816000	0.86201	2.789000	0.95967	0.655000	0.94253	GAA		0.473	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		3	54	0	0	0	0.004672	0	3	54				
SLITRK5	26050	broad.mit.edu	37	13	88329568	88329568	+	Missense_Mutation	SNP	G	G	C	rs367714155		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:88329568G>C	ENST00000325089.6	+	2	2144	c.1925G>C	c.(1924-1926)cGg>cCg	p.R642P	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R401P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	642					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R642P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCTGCGGTCCGGTTGAATAGC	0.622																																							uc001vln.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1924-1926)CGG>CCG		SLIT and NTRK-like family, member 5 precursor							74.0	78.0	77.0					13																	88329568		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329568G>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1925G>C	13.37:g.88329568G>C	ENSP00000366283:p.Arg642Pro					SLITRK5_uc010tic.1_Missense_Mutation_p.R401P	p.R642P	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2144	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		642			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1925G>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926317	0.52759	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59083	0.29;0.64	5.47	3.67	0.42095	.	1.076280	0.07285	N	0.871372	T	0.47544	0.1451	L	0.39898	1.24	0.09310	N	1	B;B	0.18166	0.026;0.001	B;B	0.20955	0.032;0.001	T	0.36040	-0.9764	9	.	.	.	-4.7111	6.0304	0.19677	0.1695:0.1565:0.674:0.0	.	401;642	B4DSH5;O94991	.;SLIK5_HUMAN	P	642;401	ENSP00000366283:R642P;ENSP00000442244:R401P	.	R	+	2	0	SLITRK5	87127569	0.005000	0.15991	0.000000	0.03702	0.862000	0.49288	1.402000	0.34600	0.609000	0.30018	0.555000	0.69702	CGG		0.622	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			5	51	0	0	0	0.001984	0	5	51				
DZIP1	22873	broad.mit.edu	37	13	96272154	96272154	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:96272154C>A	ENST00000376829.2	-	10	2009	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	DZIP1_ENST00000361156.3_Missense_Mutation_p.K386N|DZIP1_ENST00000347108.3_Missense_Mutation_p.K386N|DZIP1_ENST00000361396.2_Missense_Mutation_p.K386N	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	386					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K386N(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCTTCTCTTTCTTGTGTTCTT	0.333																																							uc001vmk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1156-1158)AAG>AAT		DAZ interacting protein 1 isoform 2							128.0	129.0	128.0					13																	96272154		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96272154C>A	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1158G>T	13.37:g.96272154C>A	ENSP00000366025:p.Lys386Asn					DZIP1_uc001vml.2_Missense_Mutation_p.K386N	p.K386N	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		10	2010	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		386					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.1158G>T	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533047	0.27387	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.0	-0.534	0.11883	.	0.486752	0.23898	N	0.043462	T	0.26666	0.0652	L	0.31294	0.92	0.30930	N	0.727003	B;B	0.10296	0.002;0.003	B;B	0.09377	0.004;0.001	T	0.10660	-1.0620	10	0.21540	T	0.41	-4.7431	4.5701	0.12205	0.0:0.2682:0.1912:0.5406	.	386;386	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	N	386	ENSP00000257312:K386N;ENSP00000355018:K386N;ENSP00000355175:K386N;ENSP00000366025:K386N	ENSP00000257312:K386N	K	-	3	2	DZIP1	95070155	0.979000	0.34478	0.984000	0.44739	0.902000	0.53008	0.026000	0.13599	-0.006000	0.14370	0.591000	0.81541	AAG		0.333	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		25	96	1	0	2.41591e-17	0.004656	4.7075e-17	25	96				
OR4K5	79317	broad.mit.edu	37	14	20389362	20389362	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:20389362T>C	ENST00000315915.4	+	1	622	c.597T>C	c.(595-597)atT>atC	p.I199I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I199I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATACTAATTGTGGTCAATA	0.408																																							uc010tkw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(595-597)ATT>ATC		olfactory receptor, family 4, subfamily K,							262.0	274.0	270.0					14																	20389362		2203	4300	6503	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389362T>C	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.597T>C	14.37:g.20389362T>C							p.I199I	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	597	+	all_cancers(95;0.00108)		199			Helical; Name=5; (Potential).		Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.597T>C	CCDS32024.1																																																																																				0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		18	164	0	0	0	0.007413	0	18	164				
OR4N5	390437	broad.mit.edu	37	14	20612100	20612100	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:20612100T>A	ENST00000333629.1	+	1	206	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L69Q(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTGGCCTTACTGGATGCATCC	0.473																																							uc010tla.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(205-207)CTG>CAG		olfactory receptor, family 4, subfamily N,							180.0	183.0	182.0					14																	20612100		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612100T>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.206T>A	14.37:g.20612100T>A	ENSP00000332110:p.Leu69Gln						p.L69Q	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	206	+	all_cancers(95;0.00108)		69			Helical; Name=2; (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.206T>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643745	0.47258	.	.	ENSG00000184394	ENST00000333629	T	0.14893	2.47	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34156	N	0.004212	T	0.45696	0.1355	M	0.88704	2.975	0.29287	N	0.869594	D	0.89917	1.0	D	0.91635	0.999	T	0.50320	-0.8842	10	0.87932	D	0	.	11.1667	0.48547	0.0:0.0:0.0:1.0	.	69	Q8IXE1	OR4N5_HUMAN	Q	69	ENSP00000332110:L69Q	ENSP00000332110:L69Q	L	+	2	0	OR4N5	19681940	0.000000	0.05858	1.000000	0.80357	0.804000	0.45430	0.781000	0.26774	1.797000	0.52628	0.528000	0.53228	CTG		0.473	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			52	141	0	0	0	0.00361	0	52	141				
TTC5	91875	broad.mit.edu	37	14	20764550	20764550	+	Splice_Site	SNP	G	G	T	rs150011121	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:20764550G>T	ENST00000258821.3	-	6	751	c.695C>A	c.(694-696)aCg>aAg	p.T232K		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	232					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T232K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGGTCTTACCGTCGCCCTGTT	0.423																																							uc001vwt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(694-696)ACG>AAG		tetratricopeptide repeat domain 5							231.0	222.0	225.0					14																	20764550		2203	4300	6503	SO:0001630	splice_region_variant	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20764550G>T	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.696+1C>A	14.37:g.20764550G>T						TTC5_uc001vwu.2_Missense_Mutation_p.T89K	p.T232K	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	6	752	-	all_cancers(95;0.00092)		232			TPR 4.		A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.695C>A	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.253447|4.253447	0.80135|0.80135	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821	.|T	.|0.73258	.|-0.73	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.047143	.|0.85682	.|D	.|0.000000	T|T	0.69477|0.69477	0.3115|0.3115	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|P	.|0.40398	.|0.716	.|B	.|0.37451	.|0.25	T|T	0.74881|0.74881	-0.3513|-0.3513	5|10	.|0.66056	.|D	.|0.02	.|.	17.7907|17.7907	0.88551|0.88551	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|232	.|Q8N0Z6	.|TTC5_HUMAN	E|K	176|232	.|ENSP00000258821:T232K	.|ENSP00000258821:T232K	D|T	-|-	3|2	2|0	TTC5|TTC5	19834390|19834390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	6.897000|6.897000	0.75671|0.75671	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GAC|ACG		0.423	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376	Missense_Mutation	8	172	1	0	4.68919e-08	0.008291	7.89173e-08	8	172				
RPGRIP1	57096	broad.mit.edu	37	14	21794251	21794251	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:21794251G>T	ENST00000400017.2	+	16	2629	c.2629G>T	c.(2629-2631)Gat>Tat	p.D877Y	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D236Y|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D839Y|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.D877Y|RPGRIP1_ENST00000382933.4_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	877	C2.				eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.D493Y(1)|p.D877Y(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGTTTTTGATGATGAAGACTT	0.483																																							uc001wag.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|pancreas(1)	7						c.(2629-2631)GAT>TAT		retinitis pigmentosa GTPase regulator							95.0	90.0	92.0					14																	21794251		1926	4123	6049	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21794251G>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2629G>T	14.37:g.21794251G>T	ENSP00000382895:p.Asp877Tyr					RPGRIP1_uc001wah.2_Missense_Mutation_p.D519Y|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.D352Y|RPGRIP1_uc010aim.2_Missense_Mutation_p.D260Y|RPGRIP1_uc001wal.2_Missense_Mutation_p.D236Y|RPGRIP1_uc001wam.2_Missense_Mutation_p.D194Y	p.D877Y	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	16	2629	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	877			C2.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2629G>T	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016371	0.54468	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	D;D;D;D;T	0.88741	-2.42;-2.42;-2.42;-2.42;-0.41	4.87	4.87	0.63330	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.053484	0.64402	D	0.000001	D	0.94305	0.8170	M	0.79258	2.445	0.42137	D	0.991496	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.999;0.999	D	0.95051	0.8187	10	0.87932	D	0	-22.444	16.947	0.86232	0.0:0.0:1.0:0.0	.	260;236;352;493;877	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;.;RPGR1_HUMAN	Y	839;877;877;352;236	ENSP00000451219:D839Y;ENSP00000382895:D877Y;ENSP00000206660:D877Y;ENSP00000451262:D352Y;ENSP00000309721:D236Y	ENSP00000206660:D877Y	D	+	1	0	RPGRIP1	20864091	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.196000	0.65136	2.534000	0.85438	0.655000	0.94253	GAT		0.483	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		10	22	1	0	0.000673444	0.008291	0.000838851	10	22				
OR10G2	26534	broad.mit.edu	37	14	22102200	22102200	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:22102200C>A	ENST00000542433.1	-	1	896	c.799G>T	c.(799-801)Gct>Tct	p.A267S		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A267S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTGGAGCCAGCCCTAAGGTAG	0.552																																							uc010tmc.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(799-801)GCT>TCT		olfactory receptor, family 10, subfamily G,							40.0	43.0	42.0					14																	22102200		2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102200C>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.799G>T	14.37:g.22102200C>A	ENSP00000445383:p.Ala267Ser						p.A267S	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	799	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	267			Extracellular (Potential).		B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.799G>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	C	9.349	1.064969	0.20067	.	.	ENSG00000255582	ENST00000542433	T	0.00063	8.78	3.92	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.622239	0.13320	N	0.396767	T	0.00073	0.0002	N	0.00525	-1.395	0.26336	N	0.977442	B	0.29188	0.236	B	0.33254	0.16	T	0.20405	-1.0276	10	0.72032	D	0.01	-1.2458	10.2916	0.43599	0.0:0.6078:0.3922:0.0	.	267	Q8NGC3	O10G2_HUMAN	S	267	ENSP00000445383:A267S	ENSP00000445383:A267S	A	-	1	0	OR10G2	21172040	0.018000	0.18449	0.997000	0.53966	0.434000	0.31775	0.046000	0.14035	0.872000	0.35775	-0.232000	0.12228	GCT		0.552	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			9	37	1	0	1.76689e-08	0.006214	3.00478e-08	9	37				
CDH24	64403	broad.mit.edu	37	14	23517554	23517554	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:23517554C>A	ENST00000267383.5	-	12	2187	c.2095G>T	c.(2095-2097)Gac>Tac	p.D699Y	CDH24_ENST00000487137.2_Missense_Mutation_p.D661Y|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000397359.3_Missense_Mutation_p.D699Y|CDH24_ENST00000554034.1_Missense_Mutation_p.D661Y			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	699					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)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.D661Y(1)|p.D699Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCCGTGATGTCGAAGGCCTCG	0.711																																							uc001wil.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2095-2097)GAC>TAC		cadherin-like 24 isoform 1							62.0	68.0	66.0					14																	23517554		2202	4299	6501	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23517554C>A	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.2095G>T	14.37:g.23517554C>A	ENSP00000267383:p.Asp699Tyr					CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.D661Y	p.D699Y	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	13	2355	-	all_cancers(95;3.3e-05)		699			Cytoplasmic (Potential).		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.2095G>T	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237090	0.79800	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	3.91	3.91	0.45181	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95337	0.8435	10	0.87932	D	0	.	14.8526	0.70309	0.0:1.0:0.0:0.0	.	661;699	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	Y	699;661;194;661;699	ENSP00000380517:D699Y;ENSP00000434821:D661Y;ENSP00000452493:D661Y;ENSP00000267383:D699Y	ENSP00000267383:D699Y	D	-	1	0	CDH24	22587394	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.321000	0.79088	2.006000	0.58801	0.655000	0.94253	GAC		0.711	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		18	78	1	0	4.96729e-08	0.008871	8.33507e-08	18	78				
PABPN1	8106	broad.mit.edu	37	14	23793489	23793489	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:23793489G>T	ENST00000216727.4	+	6	1053	c.872G>T	c.(871-873)cGc>cTc	p.R291L	PABPN1_ENST00000557702.1_Missense_Mutation_p.R163L|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R318L|PABPN1_ENST00000556821.1_Missense_Mutation_p.R163L|PABPN1_ENST00000397276.2_Missense_Mutation_p.R291L|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R318L	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	291	Interacts with PAPOLA. {ECO:0000250}.|Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|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.R291L(1)		large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCCGGGGTCGCGTCTACAGG	0.632																																							uc001wjk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(871-873)CGC>CTC		poly(A) binding protein, nuclear 1							75.0	76.0	76.0					14																	23793489		2203	4300	6503	SO:0001583	missense	8106				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr14:23793489G>T	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.872G>T	14.37:g.23793489G>T	ENSP00000216727:p.Arg291Leu					PABPN1_uc001wjh.3_Missense_Mutation_p.R318L|PABPN1_uc001wjj.2_Missense_Mutation_p.R291L	p.R291L	NM_004643	NP_004634	Q86U42	PABP2_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	6	2154	+	all_cancers(95;6.69e-06)		291			Interacts with PAPOLA (By similarity).|Necessary for homooligomerization.		D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.872G>T	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446174	0.84101	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.61510	2.67;2.67;0.1;0.39;2.02;2.06	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	M	0.77103	2.36	0.80722	D	1	D;D;P	0.67145	0.993;0.996;0.689	D;D;B	0.79108	0.982;0.992;0.173	T	0.77531	-0.2553	10	0.48119	T	0.1	-20.7803	18.1036	0.89513	0.0:0.0:1.0:0.0	.	291;291;318	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	L	318;318;291;291;163;163	ENSP00000451320:R318L;ENSP00000452479:R318L;ENSP00000216727:R291L;ENSP00000380446:R291L;ENSP00000451970:R163L;ENSP00000450724:R163L	ENSP00000216727:R291L	R	+	2	0	PABPN1;RP11-124D2.2	22863329	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	8.878000	0.92393	2.581000	0.87130	0.655000	0.94253	CGC		0.632	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		15	50	1	0	1.52009e-12	0.003163	2.85898e-12	15	50				
MYH7	4625	broad.mit.edu	37	14	23887531	23887531	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:23887531C>T	ENST00000355349.3	-	30	4219	c.4057G>A	c.(4057-4059)Gcc>Acc	p.A1353T	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1353					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.A1353T(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)		TCGGCCTTGGCCTCCGTCTCC	0.672																																							uc001wjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4057-4059)GCC>ACC		myosin, heavy chain 7, cardiac muscle, beta							66.0	59.0	61.0					14																	23887531		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887531C>T	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.4057G>A	14.37:g.23887531C>T	ENSP00000347507:p.Ala1353Thr					MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.A1353T	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4163	-	all_cancers(95;2.54e-05)		1353			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4057G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640113	0.96693	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.81996	-1.56	4.83	4.83	0.62350	Myosin tail (1);	.	.	.	.	D	0.92782	0.7705	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94097	0.7358	9	0.72032	D	0.01	.	18.1069	0.89523	0.0:1.0:0.0:0.0	.	1353	P12883	MYH7_HUMAN	T	1353;1358	ENSP00000347507:A1353T	ENSP00000347507:A1353T	A	-	1	0	MYH7	22957371	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.375000	0.79646	2.520000	0.84964	0.655000	0.94253	GCC		0.672	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	60	0	0	0	0.000602	0	5	60				
PSME2	5721	broad.mit.edu	37	14	24612835	24612835	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:24612835C>A	ENST00000216802.5	-	10	1237	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	PSME2_ENST00000560410.1_Missense_Mutation_p.G189W|EMC9_ENST00000419198.2_5'Flank|EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000560403.1_5'Flank|PSME2_ENST00000471700.2_5'UTR|EMC9_ENST00000216799.4_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	200					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein 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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)		p.G200W(1)		endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CTGAGCTCCCCATAGGCTGCC	0.597																																							uc001wmj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(598-600)GGG>TGG		proteasome activator subunit 2							97.0	101.0	100.0					14																	24612835		2203	4298	6501	SO:0001583	missense	5721				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	proteasome activator complex		g.chr14:24612835C>A		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.598G>T	14.37:g.24612835C>A	ENSP00000216802:p.Gly200Trp					FAM158A_uc001wmi.2_5'Flank|PSME2_uc001wmk.2_Missense_Mutation_p.G123W	p.G200W	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	10	663	-			200					Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	c.598G>T	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804434	0.50315	.	.	ENSG00000100911	ENST00000216802	T	0.42900	0.96	4.63	1.53	0.23141	Proteasome activator pa28, REG beta subunit (2);	0.409080	0.29059	N	0.013280	T	0.39489	0.1080	L	0.40543	1.245	0.33464	D	0.585374	P	0.49961	0.93	P	0.52481	0.7	T	0.49224	-0.8962	10	0.40728	T	0.16	-15.0542	6.3062	0.21139	0.0:0.6433:0.0:0.3567	.	200	Q9UL46	PSME2_HUMAN	W	200	ENSP00000216802:G200W	ENSP00000216802:G200W	G	-	1	0	PSME2	23682675	0.809000	0.29036	0.997000	0.53966	0.991000	0.79684	-0.010000	0.12743	0.198000	0.20407	0.561000	0.74099	GGG		0.597	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		15	75	1	0	4.75885e-15	0.00499	9.1473e-15	15	75				
NYNRIN	57523	broad.mit.edu	37	14	24883947	24883947	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:24883947G>A	ENST00000382554.3	+	9	3310	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	998					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.E998K(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGAAGGAGGAGAGGCAGGA	0.597																																							uc001wpf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2992-2994)GAG>AAG		hypothetical protein LOC57523							65.0	86.0	79.0					14																	24883947		2201	4290	6491	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24883947G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2992G>A	14.37:g.24883947G>A	ENSP00000371994:p.Glu998Lys						p.E998K	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	3310	+			998					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2992G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566768	0.65651	.	.	ENSG00000205978	ENST00000382554	T	0.12039	2.72	4.48	2.5	0.30297	.	.	.	.	.	T	0.10423	0.0255	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23726	-1.0180	9	0.38643	T	0.18	.	6.2317	0.20738	0.257:0.0:0.743:0.0	.	998	Q9P2P1	NYNRI_HUMAN	K	998	ENSP00000371994:E998K	ENSP00000371994:E998K	E	+	1	0	NYNRIN	23953787	0.174000	0.23070	0.010000	0.14722	0.857000	0.48899	1.226000	0.32563	1.011000	0.39340	0.313000	0.20887	GAG		0.597	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			3	22	0	0	0	0.004672	0	3	22				
STRN3	29966	broad.mit.edu	37	14	31388178	31388178	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:31388178C>T	ENST00000357479.5	-	9	1430	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	STRN3_ENST00000366206.2_Intron|STRN3_ENST00000355683.5_Intron	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	412					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E412K(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GTACCTTCCTCTGCTCTTGCA	0.398																																							uc001wqu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1234-1236)GAG>AAG		nuclear autoantigen isoform 1							168.0	159.0	161.0					14																	31388178		1890	4126	6016	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31388178C>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1234G>A	14.37:g.31388178C>T	ENSP00000350071:p.Glu412Lys					STRN3_uc001wqv.2_Intron|STRN3_uc010tpj.1_Intron	p.E412K	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	9	1450	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		412					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.1234G>A	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246459	0.39697	.	.	ENSG00000196792	ENST00000357479;ENST00000554991	T	0.17213	2.29	4.67	4.67	0.58626	.	0.066005	0.64402	D	0.000018	T	0.26919	0.0659	L	0.36672	1.1	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.01874	-1.1256	10	0.07325	T	0.83	-19.2998	17.9344	0.89008	0.0:1.0:0.0:0.0	.	412	Q13033	STRN3_HUMAN	K	412;93	ENSP00000350071:E412K	ENSP00000350071:E412K	E	-	1	0	STRN3	30457929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.998000	0.49465	2.296000	0.77279	0.585000	0.79938	GAG		0.398	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		28	94	0	0	0	0.008361	0	28	94				
STRN3	29966	broad.mit.edu	37	14	31416470	31416470	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:31416470C>A	ENST00000357479.5	-	5	739		c.e5-1		STRN3_ENST00000355683.5_Splice_Site	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3						negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGAAGATACCTGTAAGAGAA	0.328																																							uc001wqu.2		NA																	2	Unknown(2)		lung(2)		0						c.e5-1		nuclear autoantigen isoform 1							88.0	89.0	89.0					14																	31416470		2203	4299	6502	SO:0001630	splice_region_variant	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31416470C>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.543-1G>T	14.37:g.31416470C>A						STRN3_uc001wqv.2_Splice_Site_p.Q181_splice|STRN3_uc010tpj.1_Splice_Site	p.Q181_splice	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	5	759	-	Hepatocellular(127;0.0877)|Breast(36;0.148)							A2RTX7|A6NHZ7|Q9NRA5	Splice_Site	SNP	ENST00000357479.5	37	c.543_splice	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728628	0.89390	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2704	0.98474	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STRN3	30486221	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.717000	0.84732	2.793000	0.96121	0.591000	0.81541	.		0.328	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574	Intron	14	47	1	0	2.23348e-06	0.004007	3.41486e-06	14	47				
FSCB	84075	broad.mit.edu	37	14	44975221	44975221	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:44975221C>A	ENST00000340446.4	-	1	1261	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	324	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A324S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTAAAGGGGCCTCTTCAGCA	0.502																																							uc001wvn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(970-972)GCC>TCC		fibrous sheath CABYR binding protein							54.0	60.0	58.0					14																	44975221		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975221C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.970G>T	14.37:g.44975221C>A	ENSP00000344579:p.Ala324Ser						p.A324S	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1279	-			324			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.970G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337915	0.24253	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.25579	1.79	4.47	-1.13	0.09775	.	.	.	.	.	T	0.17534	0.0421	L	0.40543	1.245	0.09310	N	1	P	0.46512	0.879	B	0.43274	0.414	T	0.17018	-1.0383	9	0.22706	T	0.39	0.0812	4.1051	0.10033	0.2942:0.4528:0.0:0.2529	.	324	Q5H9T9	FSCB_HUMAN	S	324	ENSP00000344579:A324S	ENSP00000344579:A324S	A	-	1	0	FSCB	44044971	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.556000	0.00432	-0.311000	0.08754	-0.241000	0.12123	GCC		0.502	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		11	56	1	0	6.40141e-05	0.000978	8.8683e-05	11	56				
MIS18BP1	55320	broad.mit.edu	37	14	45705137	45705137	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:45705137T>C	ENST00000310806.4	-	6	1686	c.1228A>G	c.(1228-1230)Aac>Gac	p.N410D		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	410					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N410D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CAATATATGTTAGTGACGTCT	0.308																																						Ovarian(187;620 2054 7273 12043 20532)	uc001wwf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1228-1230)AAC>GAC		chromosome 14 open reading frame 106							86.0	80.0	82.0					14																	45705137		2201	4297	6498	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45705137T>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1228A>G	14.37:g.45705137T>C	ENSP00000309790:p.Asn410Asp					C14orf106_uc010anh.2_RNA	p.N410D	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			6	1687	-			410					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.1228A>G	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	1.350	-0.591656	0.03799	.	.	ENSG00000129534	ENST00000310806	T	0.14893	2.47	5.76	-2.06	0.07298	SANT associated (1);	0.489229	0.22214	N	0.063042	T	0.04543	0.0124	N	0.01668	-0.77	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.40905	-0.9538	10	0.05833	T	0.94	-3.345	12.7336	0.57210	0.0:0.7379:0.0:0.2621	.	410	Q6P0N0	M18BP_HUMAN	D	410	ENSP00000309790:N410D	ENSP00000309790:N410D	N	-	1	0	MIS18BP1	44774887	0.000000	0.05858	0.005000	0.12908	0.840000	0.47671	-0.212000	0.09319	-0.324000	0.08589	0.533000	0.62120	AAC		0.308	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			3	31	0	0	0	0.000248	0	3	31				
SYNE2	23224	broad.mit.edu	37	14	64421515	64421515	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:64421515G>T	ENST00000344113.4	+	8	881	c.669G>T	c.(667-669)ttG>ttT	p.L223F	SYNE2_ENST00000341472.5_Missense_Mutation_p.L223F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L223F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L223F|SYNE2_ENST00000356081.3_Missense_Mutation_p.L223F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	223	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L223F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCATGCCTTGCGACCAGACC	0.393																																							uc001xgm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(667-669)TTG>TTT		spectrin repeat containing, nuclear envelope 2							157.0	135.0	142.0					14																	64421515		1878	4133	6011	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64421515G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.669G>T	14.37:g.64421515G>T	ENSP00000341781:p.Leu223Phe					SYNE2_uc001xgk.2_Missense_Mutation_p.L223F|SYNE2_uc001xgl.2_Missense_Mutation_p.L223F	p.L223F	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	8	899	+			223			CH 2.|Cytoplasmic (Potential).|Actin-binding.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.669G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812006	0.16537	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81	5.1	3.24	0.37175	Calponin homology domain (5);	0.176684	0.26646	N	0.023223	D	0.93549	0.7941	N	0.17082	0.46	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.996	D;D;P	0.71656	0.974;0.956;0.9	D	0.91373	0.5121	10	0.66056	D	0.02	.	5.2173	0.15350	0.2686:0.0:0.5894:0.142	.	223;223;223	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	F	223	ENSP00000350719:L223F;ENSP00000341781:L223F;ENSP00000344528:L223F;ENSP00000348382:L223F;ENSP00000452570:L223F	ENSP00000261678:L223F	L	+	3	2	SYNE2	63491268	0.999000	0.42202	1.000000	0.80357	0.106000	0.19336	1.005000	0.29834	0.637000	0.30526	-0.188000	0.12872	TTG		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	49	1	0	2.56e-06	0.000248	3.89312e-06	4	49				
SPTB	6710	broad.mit.edu	37	14	65259901	65259901	+	Missense_Mutation	SNP	C	C	A	rs150013838	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:65259901C>A	ENST00000389721.5	-	13	2512	c.2480G>T	c.(2479-2481)cGg>cTg	p.R827L	SPTB_ENST00000542895.1_Missense_Mutation_p.R827L|SPTB_ENST00000389722.3_Missense_Mutation_p.R827L|SPTB_ENST00000389720.3_Missense_Mutation_p.R827L|SPTB_ENST00000556626.1_Missense_Mutation_p.R827L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	827					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R827L(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTAGAGCTCCCGCAGGGCCTG	0.652																																							uc001xht.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(2479-2481)CGG>CTG		spectrin beta isoform b							43.0	45.0	44.0					14																	65259901		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65259901C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2480G>T	14.37:g.65259901C>A	ENSP00000374371:p.Arg827Leu					SPTB_uc001xhr.2_Missense_Mutation_p.R827L|SPTB_uc001xhs.2_Missense_Mutation_p.R827L|SPTB_uc001xhu.2_Missense_Mutation_p.R827L	p.R827L	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2534	-		all_lung(585;4.15e-09)	827			Spectrin 6.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.2480G>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759541	0.31137	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.23	-2.17	0.07059	.	0.367040	0.27117	N	0.020842	T	0.37320	0.0999	L	0.45581	1.43	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.14023	0.01;0.01	T	0.23119	-1.0197	10	0.51188	T	0.08	.	12.4348	0.55593	0.0:0.3345:0.0:0.6655	.	827;831	P11277;Q59FP5	SPTB1_HUMAN;.	L	831;827;827;827;827;827	ENSP00000374372:R827L;ENSP00000451752:R827L;ENSP00000374371:R827L;ENSP00000443882:R827L;ENSP00000374370:R827L	ENSP00000374370:R827L	R	-	2	0	SPTB	64329654	0.000000	0.05858	0.011000	0.14972	0.978000	0.69477	-0.002000	0.12924	-0.894000	0.03925	0.555000	0.69702	CGG		0.652	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			4	46	1	0	0.000602214	0.000602	0.000754262	4	46				
PCNX	22990	broad.mit.edu	37	14	71444226	71444226	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:71444226G>C	ENST00000304743.2	+	6	1618	c.1172G>C	c.(1171-1173)cGg>cCg	p.R391P	PCNX_ENST00000439984.3_Missense_Mutation_p.R391P|PCNX_ENST00000238570.5_Missense_Mutation_p.R391P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	391						integral component of membrane (GO:0016021)		p.R391P(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGAACGGACCGGGACACTAAC	0.498																																							uc001xmo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1171-1173)CGG>CCG		pecanex-like 1							80.0	83.0	82.0					14																	71444226		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444226G>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1172G>C	14.37:g.71444226G>C	ENSP00000304192:p.Arg391Pro					PCNX_uc001xmn.3_Missense_Mutation_p.R391P|PCNX_uc010are.1_Missense_Mutation_p.R391P	p.R391P	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	1618	+			391					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1172G>C	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623560	0.28889	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.15487	3.04;3.01;2.42	5.93	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.13713	0.0332	L	0.27053	0.805	0.58432	D	0.999999	B;B;B	0.32203	0.031;0.083;0.36	B;B;B	0.31390	0.01;0.018;0.129	T	0.08911	-1.0699	10	0.27785	T	0.31	.	16.6058	0.84828	0.0:0.1299:0.8701:0.0	.	391;391;391	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	P	391	ENSP00000304192:R391P;ENSP00000238570:R391P;ENSP00000396617:R391P	ENSP00000238570:R391P	R	+	2	0	PCNX	70513979	1.000000	0.71417	0.965000	0.40720	0.120000	0.20174	7.329000	0.79170	2.816000	0.96949	0.650000	0.86243	CGG		0.498	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		4	43	0	0	0	0.000248	0	4	43				
ENTPD5	957	broad.mit.edu	37	14	74439636	74439636	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:74439636G>A	ENST00000334696.6	-	13	1297	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ENTPD5_ENST00000557325.1_Silent_p.F326F	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	326					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)	p.F326F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		AGAAAGCATAGAAGGAACCTC	0.547																																							uc010tuo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(976-978)TTC>TTT		ectonucleoside triphosphate diphosphohydrolase 5							181.0	181.0	181.0					14																	74439636		2203	4300	6503	SO:0001819	synonymous_variant	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74439636G>A	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.978C>T	14.37:g.74439636G>A						ENTPD5_uc001xpi.2_Silent_p.F326F	p.F326F	NM_001249	NP_001240	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	13	1289	-			326					A1L4C5|Q96RX0	Silent	SNP	ENST00000334696.6	37	c.978C>T	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323744	0.24080	.	.	ENSG00000187097	ENST00000555829	.	.	.	4.95	4.05	0.47172	.	.	.	.	.	T	0.60379	0.2264	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58228	-0.7673	4	.	.	.	-15.375	10.35	0.43929	0.1527:0.0:0.8473:0.0	.	.	.	.	F	1	.	.	S	-	2	0	ENTPD5	73509389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.884000	0.48562	1.429000	0.47314	0.563000	0.77884	TCT		0.547	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		14	174	0	0	0	0.004007	0	14	174				
TMEM63C	57156	broad.mit.edu	37	14	77715676	77715676	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:77715676A>G	ENST00000298351.4	+	21	2057	c.1913A>G	c.(1912-1914)aAc>aGc	p.N638S		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	638					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.N638S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GATCGCTATAACATGTACTAC	0.537																																							uc001xtf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1912-1914)AAC>AGC		transmembrane protein 63C							177.0	177.0	177.0					14																	77715676		2107	4217	6324	SO:0001583	missense	57156					integral to membrane		g.chr14:77715676A>G		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1913A>G	14.37:g.77715676A>G	ENSP00000298351:p.Asn638Ser					TMEM63C_uc010asq.1_Missense_Mutation_p.N638S	p.N638S	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	21	2125	+			638					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.1913A>G	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739916	0.89573	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.32988	1.43	5.26	5.26	0.73747	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	M	0.82056	2.57	0.80722	D	1	D	0.60160	0.987	D	0.70016	0.967	T	0.61143	-0.7122	10	0.49607	T	0.09	-38.1421	15.1737	0.72894	1.0:0.0:0.0:0.0	.	638	Q9P1W3	TM63C_HUMAN	S	638;208	ENSP00000298351:N638S	ENSP00000298351:N638S	N	+	2	0	TMEM63C	76785429	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.832000	0.92079	1.983000	0.57843	0.459000	0.35465	AAC		0.537	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			6	71	0	0	0	0.00308	0	6	71				
ADCK1	57143	broad.mit.edu	37	14	78399723	78399723	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:78399723G>C	ENST00000238561.5	+	11	1660	c.1561G>C	c.(1561-1563)Gct>Cct	p.A521P	ADCK1_ENST00000341211.5_Missense_Mutation_p.A453P|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	528						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A453P(1)|p.A521P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTGTTCCCTGCTCCACTCTG	0.552																																							uc001xui.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)|ovary(1)	3						c.(1561-1563)GCT>CCT		aarF domain containing kinase 1 isoform a							134.0	122.0	126.0					14																	78399723		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78399723G>C	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1561G>C	14.37:g.78399723G>C	ENSP00000238561:p.Ala521Pro					ADCK1_uc001xuj.2_Missense_Mutation_p.A453P|ADCK1_uc001xul.2_Missense_Mutation_p.A228P	p.A521P	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	11	1660	+			528					B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.1561G>C	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	8.151	0.787287	0.16258	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.68765	-0.35;1.05	5.05	2.13	0.27403	.	0.799446	0.11962	N	0.512618	T	0.46054	0.1373	N	0.22421	0.69	0.09310	N	1	B;B;P	0.36315	0.412;0.412;0.547	B;B;B	0.32289	0.143;0.062;0.132	T	0.37596	-0.9699	10	0.66056	D	0.02	-24.1968	4.0495	0.09788	0.28:0.0:0.5178:0.2022	.	528;453;521	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	P	521;453	ENSP00000238561:A521P;ENSP00000339663:A453P	ENSP00000238561:A521P	A	+	1	0	ADCK1	77469476	0.238000	0.23825	0.004000	0.12327	0.326000	0.28443	0.842000	0.27627	0.230000	0.21059	0.655000	0.94253	GCT		0.552	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		4	69	0	0	0	0.000602	0	4	69				
STON2	85439	broad.mit.edu	37	14	81744278	81744278	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:81744278C>A	ENST00000267540.2	-	4	1577	c.1377G>T	c.(1375-1377)ctG>ctT	p.L459L	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Silent_p.L459L	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	459	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.L459L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AATACAGCTGCAGGTAACCAG	0.483																																							uc010tvu.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|pancreas(2)	5						c.(1375-1377)CTG>CTT		stonin 2							185.0	183.0	183.0					14																	81744278		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744278C>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1377G>T	14.37:g.81744278C>A						STON2_uc001xvk.1_Silent_p.L459L|STON2_uc010tvt.1_Silent_p.L256L	p.L459L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1578	-			459			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.1377G>T	CCDS9875.1																																																																																				0.483	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		15	182	1	0	5.3912e-06	0.006122	8.12256e-06	15	182				
NRDE2	55051	broad.mit.edu	37	14	90755074	90755074	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:90755074A>T	ENST00000354366.3	-	11	2877	c.2645T>A	c.(2644-2646)cTg>cAg	p.L882Q	NRDE2_ENST00000357904.3_Missense_Mutation_p.L651Q	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	882								p.L882Q(1)									ACAGTCCTGCAGTGCGTGCTC	0.512																																							uc001xyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2644-2646)CTG>CAG		hypothetical protein LOC55051 isoform 1							59.0	59.0	59.0					14																	90755074		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90755074A>T	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.2645T>A	14.37:g.90755074A>T	ENSP00000346335:p.Leu882Gln					C14orf102_uc010atp.1_Missense_Mutation_p.L387Q|C14orf102_uc001xyj.1_Missense_Mutation_p.L651Q|C14orf102_uc001xyk.1_Missense_Mutation_p.L74Q	p.L882Q	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	11	2676	-		all_cancers(154;0.118)	882					B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.2645T>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899017	0.52227	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.37752	1.55;1.18	5.1	5.1	0.69264	.	0.087365	0.48286	D	0.000199	T	0.59266	0.2181	M	0.77616	2.38	0.58432	D	0.999999	D;D	0.69078	0.99;0.997	P;D	0.67725	0.866;0.953	T	0.61128	-0.7125	10	0.41790	T	0.15	-14.7218	15.0509	0.71867	1.0:0.0:0.0:0.0	.	651;882	E9PBK4;Q9H7Z3	.;CN102_HUMAN	Q	882;651	ENSP00000346335:L882Q;ENSP00000350579:L651Q	ENSP00000346335:L882Q	L	-	2	0	C14orf102	89824827	1.000000	0.71417	0.991000	0.47740	0.038000	0.13279	8.294000	0.89934	2.145000	0.66743	0.528000	0.53228	CTG		0.512	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		5	30	0	0	0	0.001168	0	5	30				
FBLN5	10516	broad.mit.edu	37	14	92353602	92353602	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:92353602T>A	ENST00000342058.4	-	7	1267	c.674A>T	c.(673-675)tAc>tTc	p.Y225F	FBLN5_ENST00000556154.1_Missense_Mutation_p.Y230F|FBLN5_ENST00000267620.10_Missense_Mutation_p.Y266F	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	225	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.Y225F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GAAAGAGCCGTAGGTGTTGAC	0.522																																							uc001xzx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(673-675)TAC>TTC		fibulin 5 precursor							213.0	174.0	187.0					14																	92353602		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92353602T>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.674A>T	14.37:g.92353602T>A	ENSP00000345008:p.Tyr225Phe					FBLN5_uc010aud.2_Missense_Mutation_p.Y230F|FBLN5_uc010aue.2_Missense_Mutation_p.Y266F	p.Y225F	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			7	1147	-		all_cancers(154;0.0722)	225			EGF-like 4; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.674A>T	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962856	0.53507	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.85556	-2.0;-2.0;-2.0	5.3	4.08	0.47627	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.065745	0.64402	D	0.000007	T	0.78266	0.4256	L	0.32530	0.975	0.58432	D	0.999996	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.19391	0.025;0.002;0.001	T	0.76650	-0.2881	10	0.66056	D	0.02	.	12.0037	0.53246	0.1293:0.0:0.0:0.8707	.	266;230;225	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	F	266;225;230	ENSP00000267620:Y266F;ENSP00000345008:Y225F;ENSP00000451982:Y230F	ENSP00000267620:Y322F	Y	-	2	0	FBLN5	91423355	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.036000	0.64164	2.132000	0.65825	0.459000	0.35465	TAC		0.522	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			8	85	0	0	0	0.006214	0	8	85				
SERPINA12	145264	broad.mit.edu	37	14	94964191	94964191	+	Missense_Mutation	SNP	T	T	G	rs200497328		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:94964191T>G	ENST00000341228.2	-	3	1339	c.544A>C	c.(544-546)Agt>Cgt	p.S182R	SERPINA12_ENST00000556881.1_Missense_Mutation_p.S182R	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	182					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S182R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTTTTTTGACTGATAAAGTCA	0.383																																							uc001ydj.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(544-546)AGT>CGT		serine (or cysteine) proteinase inhibitor, clade							92.0	89.0	90.0					14																	94964191		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964191T>G	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.544A>C	14.37:g.94964191T>G	ENSP00000342109:p.Ser182Arg						p.S182R	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	1340	-			182						Missense_Mutation	SNP	ENST00000341228.2	37	c.544A>C	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.658447	0.29425	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84660	-1.88;-1.88	5.49	1.79	0.24919	Serpin domain (3);	0.349375	0.28360	N	0.015623	T	0.75583	0.3869	L	0.42245	1.32	0.09310	N	1	P	0.48998	0.918	B	0.43251	0.413	T	0.65307	-0.6200	10	0.31617	T	0.26	.	3.4784	0.07593	0.0:0.353:0.2083:0.4387	.	182	Q8IW75	SPA12_HUMAN	R	182	ENSP00000451738:S182R;ENSP00000342109:S182R	ENSP00000342109:S182R	S	-	1	0	SERPINA12	94033944	0.090000	0.21635	0.015000	0.15790	0.040000	0.13550	1.300000	0.33436	0.353000	0.24079	0.533000	0.62120	AGT		0.383	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		12	76	0	0	0	0.001368	0	12	76				
DLK1	8788	broad.mit.edu	37	14	101195327	101195327	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:101195327C>A	ENST00000341267.4	+	3	428	c.186C>A	c.(184-186)ggC>ggA	p.G62G	DLK1_ENST00000331224.6_Silent_p.G62G|DLK1_ENST00000556051.1_Silent_p.G62G	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	62	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.G62G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCTCTCCCGGCTGCCTTCACG	0.622																																							uc001yhs.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(184-186)GGC>GGA		delta-like 1 homolog precursor							91.0	94.0	93.0					14																	101195327		2203	4300	6503	SO:0001819	synonymous_variant	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101195327C>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.186C>A	14.37:g.101195327C>A						DLK1_uc001yhu.3_Silent_p.G62G	p.G62G	NM_003836	NP_003827	P80370	DLK1_HUMAN			3	339	+		Melanoma(154;0.155)	62			EGF-like 2.|Extracellular (Potential).		P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	c.186C>A	CCDS9963.1																																																																																				0.622	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			6	87	1	0	2.0095e-06	0.001984	3.08069e-06	6	87				
HSP90AA1	3320	broad.mit.edu	37	14	102548655	102548655	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:102548655T>C	ENST00000216281.8	-	10	2087	c.1882A>G	c.(1882-1884)Atg>Gtg	p.M628V	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.M750V	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	628					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.M750V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TTTGCTGCCATGTAACCCATT	0.443																																							uc001yku.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(1882-1884)ATG>GTG		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						163.0	161.0	162.0					14																	102548655		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548655T>C	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1882A>G	14.37:g.102548655T>C	ENSP00000216281:p.Met628Val					HSP90AA1_uc001ykv.3_Missense_Mutation_p.M750V	p.M628V	NM_005348	NP_005339	P07900	HS90A_HUMAN			10	2072	-			628					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1882A>G	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	15.78	2.934333	0.52866	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.10573	2.86;2.86	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	T	0.31167	0.0788	M	0.92219	3.285	0.80722	D	1	D;P	0.53312	0.959;0.862	P;P	0.49999	0.628;0.566	T	0.48364	-0.9042	10	0.87932	D	0	-45.819	14.1258	0.65219	0.0:0.0:0.0:1.0	.	750;628	P07900-2;P07900	.;HS90A_HUMAN	V	628;750	ENSP00000216281:M628V;ENSP00000335153:M750V	ENSP00000216281:M628V	M	-	1	0	HSP90AA1	101618408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	1.808000	0.52836	0.477000	0.44152	ATG		0.443	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		15	96	0	0	0	0.003163	0	15	96				
AHNAK2	113146	broad.mit.edu	37	14	105413236	105413236	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:105413236G>C	ENST00000333244.5	-	7	8671	c.8552C>G	c.(8551-8553)tCc>tGc	p.S2851C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2851						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S2851C(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGCATGGAGGGGAAGCT	0.617																																							uc010axc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(8551-8553)TCC>TGC		AHNAK nucleoprotein 2							144.0	162.0	156.0					14																	105413236		1979	4159	6138	SO:0001583	missense	113146					nucleus		g.chr14:105413236G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8552C>G	14.37:g.105413236G>C	ENSP00000353114:p.Ser2851Cys					AHNAK2_uc001ypx.2_Missense_Mutation_p.S2751C	p.S2851C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8672	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2851					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8552C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.58	2.280607	0.40294	.	.	ENSG00000185567	ENST00000333244	T	0.00958	5.5	3.6	-0.625	0.11548	.	.	.	.	.	T	0.03095	0.0091	M	0.88241	2.94	0.09310	N	1	D	0.59357	0.985	P	0.52909	0.713	T	0.25398	-1.0133	9	0.59425	D	0.04	.	4.7187	0.12909	0.2685:0.0:0.5819:0.1495	.	2851	Q8IVF2	AHNK2_HUMAN	C	2851	ENSP00000353114:S2851C	ENSP00000353114:S2851C	S	-	2	0	AHNAK2	104484281	.	.	0.002000	0.10522	0.015000	0.08874	.	.	-0.227000	0.09884	-0.699000	0.03677	TCC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		21	158	0	0	0	0.001523	0	21	158				
AHNAK2	113146	broad.mit.edu	37	14	105416310	105416310	+	Silent	SNP	G	G	C	rs372304899		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:105416310G>C	ENST00000333244.5	-	7	5597	c.5478C>G	c.(5476-5478)ccC>ccG	p.P1826P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1826						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P1826P(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAACTTGGGCATTTTGA	0.612																																							uc010axc.1		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(1)	1						c.(5476-5478)CCC>CCG		AHNAK nucleoprotein 2		G		2,3840		0,2,1919	196.0	236.0	224.0		5478	2.6	1.0	14		224	0,8166		0,0,4083	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6002	CC,CG,GG		0.0,0.0521,0.0167		1826/5796	105416310	2,12006	1921	4083	6004	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105416310G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5478C>G	14.37:g.105416310G>C						AHNAK2_uc001ypx.2_Silent_p.P1726P	p.P1826P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5598	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1826					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.5478C>G	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		19	320	0	0	0	0.008871	0	19	320				
AHNAK2	113146	broad.mit.edu	37	14	105418992	105418992	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:105418992C>T	ENST00000333244.5	-	7	2915	c.2796G>A	c.(2794-2796)aaG>aaA	p.K932K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	932						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.K932K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGGGGGCCCTTGAGGTCCA	0.622																																							uc010axc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2794-2796)AAG>AAA		AHNAK nucleoprotein 2							149.0	168.0	162.0					14																	105418992		1836	4079	5915	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418992C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2796G>A	14.37:g.105418992C>T						AHNAK2_uc001ypx.2_Silent_p.K832K	p.K932K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2916	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	932					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2796G>A	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		21	251	0	0	0	0.00278	0	21	251				
GABRA5	2558	broad.mit.edu	37	15	27159994	27159994	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:27159994C>T	ENST00000335625.5	+	7	1430	c.542C>T	c.(541-543)cCg>cTg	p.P181L	GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.P181L|GABRA5_ENST00000355395.5_Missense_Mutation_p.P181L	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	181					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P181L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	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)|Zopiclone(DB01198)	GAGGACTTCCCGATGGATGCG	0.448																																							uc001zbd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(541-543)CCG>CTG		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						76.0	77.0	77.0					15																	27159994		1979	4177	6156	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27159994C>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.542C>T	15.37:g.27159994C>T	ENSP00000335592:p.Pro181Leu					GABRB3_uc001zbb.2_Intron	p.P181L	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	8	881	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	181			Extracellular (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.542C>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466009	0.96257	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	H	0.98351	4.21	0.80722	D	1	D	0.59357	0.985	P	0.61003	0.882	D	0.98581	1.0650	10	0.87932	D	0	.	17.0443	0.86498	0.0:1.0:0.0:0.0	.	181	P31644	GBRA5_HUMAN	L	181;181;149;181	ENSP00000335592:P181L;ENSP00000347557:P181L;ENSP00000450653:P149L;ENSP00000382953:P181L	ENSP00000335592:P181L	P	+	2	0	GABRA5	24742740	1.000000	0.71417	0.923000	0.36655	0.981000	0.71138	6.894000	0.75655	2.612000	0.88384	0.655000	0.94253	CCG		0.448	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			3	38	0	0	0	0.000248	0	3	38				
GABRG3	2567	broad.mit.edu	37	15	27572050	27572050	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:27572050T>A	ENST00000333743.6	+	4	619	c.365T>A	c.(364-366)aTg>aAg	p.M122K	GABRG3_ENST00000555083.1_Missense_Mutation_p.M122K	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	122					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.M122K(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)	AACAGCAACATGGTGGGGTTA	0.448																																					NSCLC(114;800 1656 7410 37729 45293)	NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(364-366)ATG>AAG		gamma-aminobutyric acid (GABA) A receptor, gamma							145.0	145.0	145.0					15																	27572050		1998	4211	6209	SO:0001583	missense	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.chr15:27572050T>A		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.365T>A	15.37:g.27572050T>A	ENSP00000331912:p.Met122Lys					GABRG3_uc001zbf.2_Missense_Mutation_p.M122K	p.M122K	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)	4	531	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	122			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.365T>A	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630395	0.87660	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.77489	-1.1;-1.1;-1.1	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88489	0.6450	M	0.84156	2.68	0.80722	D	1	D;D	0.63880	0.993;0.991	D;D	0.70016	0.967;0.931	D	0.90122	0.4200	10	0.87932	D	0	.	15.3065	0.73995	0.0:0.0:0.0:1.0	.	122;122	Q99928;G3V594	GBRG3_HUMAN;.	K	122;122;64	ENSP00000331912:M122K;ENSP00000452244:M122K;ENSP00000451862:M64K	ENSP00000331912:M122K	M	+	2	0	GABRG3	25154796	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.773000	0.85462	2.195000	0.70347	0.529000	0.55759	ATG		0.448	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			4	43	0	0	0	0.000602	0	4	43				
APBA2	321	broad.mit.edu	37	15	29346661	29346661	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:29346661G>T	ENST00000558402.1	+	5	1173	c.574G>T	c.(574-576)Ggc>Tgc	p.G192C	APBA2_ENST00000558259.1_Missense_Mutation_p.G192C|APBA2_ENST00000561069.1_Missense_Mutation_p.G192C|APBA2_ENST00000411764.1_Missense_Mutation_p.G192C|APBA2_ENST00000558330.1_Missense_Mutation_p.G192C			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	192	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.G192C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAGCAAAGAGGGCTACCAGGA	0.642																																							uc001zck.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(574-576)GGC>TGC		amyloid beta A4 precursor protein-binding,							45.0	39.0	41.0					15																	29346661		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346661G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.574G>T	15.37:g.29346661G>T	ENSP00000453293:p.Gly192Cys					APBA2_uc010azj.2_Missense_Mutation_p.G192C|APBA2_uc010uat.1_Missense_Mutation_p.G192C|APBA2_uc001zcl.2_Missense_Mutation_p.G192C|APBA2_uc010uas.1_Missense_Mutation_p.G192C	p.G192C	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	781	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	192	DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).		STXBP1-binding.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.574G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395255	0.42512	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.47869	0.83	5.07	1.69	0.24217	.	0.674832	0.15346	N	0.267230	T	0.43033	0.1229	L	0.53249	1.67	0.09310	N	0.999999	P;P;P	0.43885	0.82;0.677;0.482	B;B;B	0.42112	0.376;0.299;0.205	T	0.31586	-0.9938	10	0.72032	D	0.01	.	8.9669	0.35883	0.3339:0.0:0.6661:0.0	.	192;192;192	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	C	192	ENSP00000409312:G192C	ENSP00000219865:G192C	G	+	1	0	APBA2	27133953	0.690000	0.27699	0.756000	0.31282	0.818000	0.46254	1.215000	0.32431	0.512000	0.28257	-0.145000	0.13849	GGC		0.642	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		7	17	1	0	5.18039e-06	0.00308	7.8153e-06	7	17				
RYR3	6263	broad.mit.edu	37	15	33990137	33990137	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:33990137G>T	ENST00000389232.4	+	40	6259	c.6189G>T	c.(6187-6189)ctG>ctT	p.L2063L	RYR3_ENST00000415757.3_Silent_p.L2063L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2063	4 X approximate repeats.				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.L2063L(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)		TGAGAGTCCTGGGCATGCACG	0.458																																							uc001zhi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6187-6189)CTG>CTT		ryanodine receptor 3							183.0	176.0	178.0					15																	33990137		2069	4238	6307	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33990137G>T		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.6189G>T	15.37:g.33990137G>T						RYR3_uc010bar.2_Silent_p.L2063L	p.L2063L	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)	40	6259	+		all_lung(180;7.18e-09)	2063			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6189G>T	CCDS45210.1																																																																																				0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	45	1	0	3.09899e-07	0.004482	4.96537e-07	8	45				
RYR3	6263	broad.mit.edu	37	15	34015046	34015046	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:34015046C>A	ENST00000389232.4	+	44	6820	c.6750C>A	c.(6748-6750)atC>atA	p.I2250I	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Silent_p.I2250I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2250	4 X approximate repeats.				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.I2250I(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)		CCATTAAGATCTCTGAGAACC	0.577																																							uc001zhi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6748-6750)ATC>ATA		ryanodine receptor 3							88.0	93.0	92.0					15																	34015046		1956	4120	6076	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015046C>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.6750C>A	15.37:g.34015046C>A						RYR3_uc010bar.2_Silent_p.I2250I	p.I2250I	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)	44	6820	+		all_lung(180;7.18e-09)	2250			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6750C>A	CCDS45210.1																																																																																				0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	82	1	0	2.0095e-06	0.001984	3.08069e-06	7	82				
MFAP1	4236	broad.mit.edu	37	15	44102041	44102041	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:44102041C>A	ENST00000267812.3	-	7	1191	c.959G>T	c.(958-960)cGg>cTg	p.R320L		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	320					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)	p.R320L(1)		breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCCGTTTGCCCGAAGTTCAGC	0.443																																							uc001zth.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(958-960)CGG>CTG		microfibrillar-associated protein 1							260.0	231.0	241.0					15																	44102041		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44102041C>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.959G>T	15.37:g.44102041C>A	ENSP00000267812:p.Arg320Leu						p.R320L	NM_005926	NP_005917	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	7	1143	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	320					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.959G>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425108	0.96131	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	M	0.67517	2.055	0.80722	D	1	P	0.43885	0.82	P	0.53146	0.719	T	0.72500	-0.4274	9	0.49607	T	0.09	-4.5615	18.4695	0.90767	0.0:1.0:0.0:0.0	.	320	P55081	MFAP1_HUMAN	L	320	.	ENSP00000267812:R320L	R	-	2	0	MFAP1	41889333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	CGG		0.443	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		9	131	1	0	2.80697e-09	0.000978	4.92087e-09	9	131				
SEMA6D	80031	broad.mit.edu	37	15	48056105	48056105	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:48056105T>C	ENST00000316364.5	+	10	1245	c.806T>C	c.(805-807)gTc>gCc	p.V269A	SEMA6D_ENST00000389433.2_Missense_Mutation_p.V269A|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V269A|SEMA6D_ENST00000389425.3_Missense_Mutation_p.V269A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V269A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V269A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V269A|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V269A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V269A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V269A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V269A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V269A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	269	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V269A(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCCCAGCGGGTCCTGGAGAAA	0.493																																							uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(805-807)GTC>GCC		semaphorin 6D isoform 4 precursor							157.0	147.0	150.0					15																	48056105		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056105T>C	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.806T>C	15.37:g.48056105T>C	ENSP00000324857:p.Val269Ala					SEMA6D_uc001zvw.2_Missense_Mutation_p.V269A|SEMA6D_uc001zvx.1_Missense_Mutation_p.V269A|SEMA6D_uc001zvy.2_Missense_Mutation_p.V269A|SEMA6D_uc001zvz.2_Missense_Mutation_p.V269A|SEMA6D_uc001zwa.2_Missense_Mutation_p.V269A|SEMA6D_uc001zwb.2_Missense_Mutation_p.V269A|SEMA6D_uc001zwc.2_Missense_Mutation_p.V269A	p.V269A	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	10	1166	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	269			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.806T>C	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740710	0.89573	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	L	0.60845	1.875	0.80722	D	1	D;P;D;D;D	0.89917	0.969;0.931;0.969;1.0;0.969	P;P;P;D;P	0.97110	0.842;0.902;0.842;1.0;0.842	T	0.00657	-1.1623	10	0.34782	T	0.22	.	16.27	0.82612	0.0:0.0:0.0:1.0	.	269;269;269;269;269	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	A	269	ENSP00000442040:V269A;ENSP00000446152:V269A;ENSP00000324857:V269A;ENSP00000374084:V269A;ENSP00000374083:V269A;ENSP00000346786:V269A;ENSP00000350770:V269A;ENSP00000374079:V269A;ENSP00000348276:V269A;ENSP00000374076:V269A	ENSP00000324857:V269A	V	+	2	0	SEMA6D	45843397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.248000	0.74166	0.533000	0.62120	GTC		0.493	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		12	72	0	0	0	0.000978	0	12	72				
SEMA6D	80031	broad.mit.edu	37	15	48063273	48063273	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:48063273A>G	ENST00000316364.5	+	19	2952	c.2513A>G	c.(2512-2514)aAc>aGc	p.N838S	SEMA6D_ENST00000389433.2_Missense_Mutation_p.N819S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.N782S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.N776S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.N776S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.N763S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.N838S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.N795S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.N776S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	838					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.N776S(1)|p.N838S(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CATGACTACAACACGTCTTTC	0.463																																							uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(2512-2514)AAC>AGC		semaphorin 6D isoform 4 precursor							108.0	100.0	103.0					15																	48063273		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063273A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2513A>G	15.37:g.48063273A>G	ENSP00000324857:p.Asn838Ser					SEMA6D_uc001zvw.2_Missense_Mutation_p.N776S|SEMA6D_uc001zvy.2_Missense_Mutation_p.N838S|SEMA6D_uc001zvz.2_Missense_Mutation_p.N782S|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.N776S|SEMA6D_uc001zwc.2_Missense_Mutation_p.N763S	p.N838S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2873	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	838			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2513A>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	A	9.958	1.222085	0.22457	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16196	2.37;2.37;2.37;2.36;2.37;2.37;2.37;2.38	5.58	5.58	0.84498	.	0.938089	0.08902	N	0.877072	T	0.16214	0.0390	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.17465	0.022;0.022;0.004;0.022	B;B;B;B	0.18871	0.015;0.023;0.016;0.017	T	0.07083	-1.0791	10	0.38643	T	0.18	.	15.7439	0.77922	1.0:0.0:0.0:0.0	.	763;782;838;776	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	S	776;838;838;819;795;782;776;763	ENSP00000442040:N776S;ENSP00000446152:N838S;ENSP00000324857:N838S;ENSP00000374084:N819S;ENSP00000374083:N795S;ENSP00000346786:N782S;ENSP00000350770:N776S;ENSP00000374079:N763S	ENSP00000324857:N838S	N	+	2	0	SEMA6D	45850565	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.547000	0.67249	2.111000	0.64477	0.460000	0.39030	AAC		0.463	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		7	47	0	0	0	0.001984	0	7	47				
POLR2M	81488	broad.mit.edu	37	15	58001046	58001046	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:58001046A>T	ENST00000299638.3	+	2	462	c.248A>T	c.(247-249)aAg>aTg	p.K83M	POLR2M_ENST00000464308.1_3'UTR|GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000380557.4_Intron|POLR2M_ENST00000380563.2_Missense_Mutation_p.K83M|GCOM1_ENST00000484300.1_Intron|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.K480M	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	83					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)	p.K83M(1)									TTAGACTGTAAGCTAAGGCAA	0.398																																							uc002aet.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(247-249)AAG>ATG		glutamate receptor, ionotropic, N-methyl							106.0	98.0	101.0					15																	58001046		2192	4292	6484	SO:0001583	missense	81488				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:58001046A>T	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.248A>T	15.37:g.58001046A>T	ENSP00000299638:p.Lys83Met					GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_Intron|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_Intron|GRINL1A_uc002aes.2_Intron|GRINL1A_uc002aev.1_3'UTR|GRINL1A_uc010ugu.1_RNA|GRINL1A_uc002aeu.3_Intron	p.K83M	NM_015532	NP_056347	P0CAP1	GCOM1_HUMAN		all cancers(107;0.0697)|GBM - Glioblastoma multiforme(80;0.12)	2	388	+			380			Potential.		Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	c.248A>T	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335708	0.41398	.	.	ENSG00000255529	ENST00000380563;ENST00000299638	T;T	0.35789	1.29;1.29	5.13	2.72	0.32119	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.09310	N	1	P	0.48407	0.91	B	0.43478	0.421	T	0.14008	-1.0488	8	0.72032	D	0.01	.	7.1031	0.25348	0.5814:0.3391:0.0795:0.0	.	83	P0CAP2	GRL1A_HUMAN	M	83	ENSP00000369937:K83M;ENSP00000299638:K83M	ENSP00000299638:K83M	K	+	2	0	GRINL1A	55788338	0.452000	0.25713	0.031000	0.17742	0.556000	0.35491	2.289000	0.43523	0.463000	0.27118	0.477000	0.44152	AAG		0.398	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			7	51	0	0	0	0.001984	0	7	51				
IGDCC3	9543	broad.mit.edu	37	15	65622728	65622728	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:65622728A>T	ENST00000327987.4	-	11	2012	c.1761T>A	c.(1759-1761)acT>acA	p.T587T	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	587	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.T587T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATACACTGCAGTGGGGTCTG	0.602																																							uc002aos.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1759-1761)ACT>ACA		putative neuronal cell adhesion molecule							138.0	115.0	123.0					15																	65622728		2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65622728A>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1761T>A	15.37:g.65622728A>T						IGDCC3_uc002aor.1_5'Flank	p.T587T	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			11	2013	-			587			Extracellular (Potential).|Fibronectin type-III 2.		O95215	Silent	SNP	ENST00000327987.4	37	c.1761T>A	CCDS10205.1																																																																																				0.602	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		4	53	0	0	0	0.001168	0	4	53				
IGDCC4	57722	broad.mit.edu	37	15	65677373	65677373	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:65677373C>A	ENST00000352385.2	-	19	3470	c.3261G>T	c.(3259-3261)ccG>ccT	p.P1087P	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1087						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1087P(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						GGGTCAGAGCCGGCCGGGGGC	0.672											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002aou.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3259-3261)CCG>CCT		immunoglobulin superfamily, DCC subclass, member							23.0	29.0	27.0					15																	65677373		2144	4271	6415	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65677373C>A		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.3261G>T	15.37:g.65677373C>A			OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	IGDCC4_uc002aot.1_Silent_p.P675P	p.P1087P	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			19	3471	-			1087			Cytoplasmic (Potential).		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.3261G>T	CCDS10206.1																																																																																				0.672	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		6	37	1	0	3.59834e-05	0.001168	5.08422e-05	6	37				
IGDCC4	57722	broad.mit.edu	37	15	65702597	65702597	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:65702597C>A	ENST00000352385.2	-	3	691	c.482G>T	c.(481-483)cGc>cTc	p.R161L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	161	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R161L(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						GCACTCAAAGCGAGCTGTCCC	0.582																																							uc002aou.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(481-483)CGC>CTC		immunoglobulin superfamily, DCC subclass, member							87.0	74.0	79.0					15																	65702597		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65702597C>A		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.482G>T	15.37:g.65702597C>A	ENSP00000319623:p.Arg161Leu						p.R161L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			3	692	-			161			Ig-like C2-type 2.|Extracellular (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.482G>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150621	0.94645	.	.	ENSG00000103742	ENST00000352385	T	0.68181	-0.31	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.47716	1.5	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.66344	-0.5947	10	0.02654	T	1	-23.8515	17.1439	0.86761	0.0:1.0:0.0:0.0	.	161	Q8TDY8	IGDC4_HUMAN	L	161	ENSP00000319623:R161L	ENSP00000319623:R161L	R	-	2	0	IGDCC4	63489650	1.000000	0.71417	0.936000	0.37596	0.947000	0.59692	7.059000	0.76684	2.576000	0.86940	0.655000	0.94253	CGC		0.582	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		4	47	1	0	0.000602214	0.000602	0.000754262	4	47				
SPESP1	246777	broad.mit.edu	37	15	69238614	69238614	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:69238614C>G	ENST00000310673.3	+	2	895	c.741C>G	c.(739-741)aaC>aaG	p.N247K	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	247					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.N247K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ACACCAGCAACCCAGCATATA	0.363																																							uc002arn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(739-741)AAC>AAG		sperm equatorial segment protein 1 precursor							54.0	57.0	56.0					15																	69238614		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238614C>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.741C>G	15.37:g.69238614C>G	ENSP00000312284:p.Asn247Lys					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.N247K	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	869	+			247					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.741C>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	5.209	0.224079	0.09863	.	.	ENSG00000258484	ENST00000310673	T	0.20881	2.04	5.28	-4.53	0.03462	.	1.000500	0.08068	N	0.999453	T	0.04770	0.0129	N	0.01352	-0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.37776	-0.9691	10	0.09590	T	0.72	-3.6866	3.8648	0.09012	0.103:0.1789:0.1477:0.5704	.	247	Q6UW49	SPESP_HUMAN	K	247	ENSP00000312284:N247K	ENSP00000312284:N247K	N	+	3	2	SPESP1	67025668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.154000	0.03166	-0.872000	0.04037	-1.251000	0.01509	AAC		0.363	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		5	44	0	0	0	0.001168	0	5	44				
ARIH1	25820	broad.mit.edu	37	15	72873191	72873191	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:72873191G>T	ENST00000379887.4	+	12	1649	c.1335G>T	c.(1333-1335)atG>atT	p.M445I	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	445					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M445I(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TGGAGGAGATGCAGCAGCACA	0.478																																							uc002aut.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1333-1335)ATG>ATT		ariadne ubiquitin-conjugating enzyme E2 binding							234.0	165.0	188.0					15																	72873191		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72873191G>T	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1335G>T	15.37:g.72873191G>T	ENSP00000369217:p.Met445Ile						p.M445I	NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN			12	1649	+			445			Potential.		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.1335G>T	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448419	0.84101	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.81163	-1.46	5.78	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	M	0.73598	2.24	0.80722	D	1	P	0.49961	0.93	P	0.45881	0.496	D	0.85882	0.1423	10	0.66056	D	0.02	.	16.3333	0.83050	0.0:0.0:0.8675:0.1325	.	445	Q9Y4X5	ARI1_HUMAN	I	445;415	ENSP00000369217:M445I	ENSP00000299305:M415I	M	+	3	0	ARIH1	70660245	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.356000	0.97091	2.763000	0.94921	0.650000	0.86243	ATG		0.478	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		10	55	1	0	2.17888e-05	0.006214	3.14511e-05	10	55				
PML	5371	broad.mit.edu	37	15	74337270	74337270	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:74337270C>T	ENST00000268058.3	+	9	2666	c.2570C>T	c.(2569-2571)cCg>cTg	p.P857L	PML_ENST00000565898.1_Missense_Mutation_p.P809L	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	857					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P857L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TTGGAGGGTCCGGCGCTGGCA	0.647			T	"""RARA, PAX5"""	"""APL, ALL"""																																		uc002awv.2		NA		Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	RARA|PAX5		APL|ALL		1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(2)|breast(1)	5						c.(2569-2571)CCG>CTG		promyelocytic leukemia protein isoform 1							43.0	49.0	47.0					15																	74337270		2197	4294	6491	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding	g.chr15:74337270C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2570C>T	15.37:g.74337270C>T	ENSP00000268058:p.Pro857Leu					PML_uc002awu.2_Missense_Mutation_p.P809L|PML_uc010ule.1_Missense_Mutation_p.P418L	p.P857L	NM_033238	NP_150241	P29590	PML_HUMAN			9	2710	+			857					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.2570C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	1.683	-0.506086	0.04231	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.43294	0.95	3.66	0.298	0.15766	.	2.477890	0.01584	N	0.021233	T	0.23014	0.0556	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.20009	-1.0288	10	0.02654	T	1	.	5.7184	0.17972	0.3355:0.5557:0.0:0.1088	.	857;809	P29590;P29590-11	PML_HUMAN;.	L	857;418;840	ENSP00000268058:P857L	ENSP00000268058:P857L	P	+	2	0	PML	72124323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.060000	0.03475	-0.433000	0.07286	-1.119000	0.02030	CCG		0.647	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		10	60	0	0	0	0.001368	0	10	60				
SIN3A	25942	broad.mit.edu	37	15	75684637	75684637	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:75684637T>C	ENST00000394947.3	-	15	3111	c.2797A>G	c.(2797-2799)Ata>Gta	p.I933V	SIN3A_ENST00000360439.4_Missense_Mutation_p.I933V|SIN3A_ENST00000394949.4_Missense_Mutation_p.I933V	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.I933V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCTCGCTTTATGCCCAGCACT	0.512																																							uc002bai.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)	5						c.(2797-2799)ATA>GTA		transcriptional co-repressor Sin3A							197.0	179.0	185.0					15																	75684637		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684637T>C	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2797A>G	15.37:g.75684637T>C	ENSP00000378402:p.Ile933Val					SIN3A_uc002baj.2_Missense_Mutation_p.I933V|SIN3A_uc010uml.1_Missense_Mutation_p.I933V	p.I933V	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			15	3056	-			933						Missense_Mutation	SNP	ENST00000394947.3	37	c.2797A>G	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	T	4.928	0.172496	0.09391	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.42513	0.97;0.97;0.97	5.6	4.47	0.54385	.	0.104144	0.64402	N	0.000004	T	0.32793	0.0841	L	0.52905	1.665	0.80722	D	1	B	0.19073	0.033	B	0.17722	0.019	T	0.10543	-1.0625	10	0.15952	T	0.53	-12.1403	6.2553	0.20870	0.0:0.084:0.1588:0.7572	.	933	Q96ST3	SIN3A_HUMAN	V	933	ENSP00000378402:I933V;ENSP00000378403:I933V;ENSP00000353622:I933V	ENSP00000353622:I933V	I	-	1	0	SIN3A	73471690	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.855000	0.48333	0.954000	0.37851	0.533000	0.62120	ATA		0.512	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		21	107	0	0	0	0.00333	0	21	107				
SNUPN	10073	broad.mit.edu	37	15	75890754	75890754	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:75890754T>A	ENST00000564644.1	-	10	1606	c.1028A>T	c.(1027-1029)aAg>aTg	p.K343M	SNUPN_ENST00000308588.5_Missense_Mutation_p.K343M|SNUPN_ENST00000371091.5_Missense_Mutation_p.K385M|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Missense_Mutation_p.K343M|SNUPN_ENST00000564675.1_Missense_Mutation_p.K343M			O95149	SPN1_HUMAN	snurportin 1	343					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)	p.K343M(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						ACCCTTCAACTTGGGAGTAGA	0.517																																							uc002ban.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1027-1029)AAG>ATG		snurportin 1							100.0	101.0	100.0					15																	75890754		2197	4294	6491	SO:0001583	missense	10073				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	g.chr15:75890754T>A	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.1028A>T	15.37:g.75890754T>A	ENSP00000454852:p.Lys343Met					SNUPN_uc002bao.2_Missense_Mutation_p.K343M|SNUPN_uc002bap.2_Missense_Mutation_p.K385M|SNUPN_uc002baq.2_Missense_Mutation_p.K343M|SNUPN_uc002bar.2_Missense_Mutation_p.K343M|SNUPN_uc002bas.2_Missense_Mutation_p.K343M	p.K343M	NM_005701	NP_005692	O95149	SPN1_HUMAN			9	1118	-			343					A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	ENST00000564644.1	37	c.1028A>T	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563779	0.45694	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	5.9	-3.3	0.05003	.	1.100250	0.06598	N	0.753214	T	0.23249	0.0562	L	0.36672	1.1	0.09310	N	1	P;B	0.41748	0.761;0.009	B;B	0.34824	0.19;0.01	T	0.32134	-0.9918	9	0.72032	D	0.01	-2.954	6.4498	0.21898	0.0:0.3466:0.2608:0.3926	.	385;343	C9K0X5;O95149	.;SPN1_HUMAN	M	343;385	.	ENSP00000309831:K343M	K	-	2	0	SNUPN	73677809	0.000000	0.05858	0.001000	0.08648	0.277000	0.26821	-0.524000	0.06222	-0.332000	0.08489	0.454000	0.30748	AAG		0.517	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		8	42	0	0	0	0.004482	0	8	42				
CSPG4	1464	broad.mit.edu	37	15	75981912	75981912	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:75981912G>T	ENST00000308508.5	-	3	1586	c.1494C>A	c.(1492-1494)gaC>gaA	p.D498E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	498	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.D498E(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTTCACCACGTCCAGGAGGG	0.647																																							uc002baw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1492-1494)GAC>GAA		chondroitin sulfate proteoglycan 4 precursor							50.0	47.0	48.0					15																	75981912		2188	4274	6462	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981912G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1494C>A	15.37:g.75981912G>T	ENSP00000312506:p.Asp498Glu						p.D498E	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	1587	-			498			Extracellular (Potential).|CSPG 1.|Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1494C>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	14.31	2.496905	0.44352	.	.	ENSG00000173546	ENST00000308508	T	0.42513	0.97	5.12	1.07	0.20283	.	0.000000	0.64402	D	0.000003	T	0.61286	0.2335	M	0.79693	2.465	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	T	0.59440	-0.7454	10	0.51188	T	0.08	.	10.1877	0.43009	0.3832:0.0:0.6168:0.0	.	498	Q6UVK1	CSPG4_HUMAN	E	498	ENSP00000312506:D498E	ENSP00000312506:D498E	D	-	3	2	CSPG4	73768967	0.692000	0.27719	0.996000	0.52242	0.563000	0.35712	-0.120000	0.10660	-0.024000	0.13941	-2.005000	0.00442	GAC		0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		6	63	1	0	0.00116845	0.001168	0.00142726	6	63				
FSD2	123722	broad.mit.edu	37	15	83455968	83455968	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:83455968C>A	ENST00000334574.8	-	2	356	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	FSD2_ENST00000541889.1_Missense_Mutation_p.G59W			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	59								p.G59W(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TTACCATCCCCTGCTCCTCTT	0.448																																							uc002bjd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(175-177)GGG>TGG		fibronectin type III and SPRY domain containing							179.0	173.0	175.0					15																	83455968		1996	4177	6173	SO:0001583	missense	123722							g.chr15:83455968C>A	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.175G>T	15.37:g.83455968C>A	ENSP00000335651:p.Gly59Trp					FSD2_uc010uol.1_Missense_Mutation_p.G59W|FSD2_uc010uom.1_Missense_Mutation_p.G59W	p.G59W	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			2	342	-			59					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.175G>T	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787617	0.49997	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.51817	0.69;0.69	4.33	2.35	0.29111	.	0.917782	0.09155	N	0.841031	T	0.29491	0.0735	N	0.22421	0.69	0.09310	N	1	P;P	0.49358	0.889;0.923	B;B	0.36959	0.237;0.221	T	0.14008	-1.0488	10	0.72032	D	0.01	-2.2818	5.9663	0.19326	0.0:0.5457:0.0:0.4543	.	59;59	B7ZM02;A1L4K1	.;FSD2_HUMAN	W	59	ENSP00000335651:G59W;ENSP00000444078:G59W	ENSP00000335651:G59W	G	-	1	0	FSD2	81253022	0.000000	0.05858	0.000000	0.03702	0.851000	0.48451	0.253000	0.18296	0.519000	0.28406	0.655000	0.94253	GGG		0.448	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		5	72	1	0	0.00116845	0.001168	0.00142726	5	72				
BNC1	646	broad.mit.edu	37	15	83931874	83931874	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:83931874G>C	ENST00000345382.2	-	4	2214	c.2129C>G	c.(2128-2130)gCa>gGa	p.A710G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.A703G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	710					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	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.A710G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCTTGCTAATGCATGCTGACC	0.448																																							uc002bjt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2128-2130)GCA>GGA		basonuclin 1							101.0	97.0	99.0					15																	83931874		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83931874G>C	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2129C>G	15.37:g.83931874G>C	ENSP00000307041:p.Ala710Gly					BNC1_uc010uos.1_Missense_Mutation_p.A698G	p.A710G	NM_001717	NP_001708	Q01954	BNC1_HUMAN			4	2217	-			710					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2129C>G	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	5.296	0.239925	0.10023	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.46063	0.88	5.46	3.33	0.38152	.	0.462015	0.22940	N	0.053796	T	0.28566	0.0707	L	0.38531	1.155	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.12156	0.007;0.003	T	0.10636	-1.0621	10	0.11182	T	0.66	-0.8823	10.6636	0.45717	0.0:0.1408:0.7134:0.1458	.	703;710	F5GY04;Q01954	.;BNC1_HUMAN	G	710;703	ENSP00000307041:A710G	ENSP00000307041:A710G	A	-	2	0	BNC1	81722878	0.000000	0.05858	0.008000	0.14137	0.952000	0.60782	0.751000	0.26348	2.548000	0.85928	0.655000	0.94253	GCA		0.448	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		6	65	0	0	0	0.001168	0	6	65				
ADAMTSL3	57188	broad.mit.edu	37	15	84611675	84611675	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:84611675G>C	ENST00000286744.5	+	19	2555	c.2331G>C	c.(2329-2331)ggG>ggC	p.G777G	ADAMTSL3_ENST00000567476.1_Silent_p.G777G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	777	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G777G(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTGTGGCGGGGGAACTCAGA	0.537																																							uc002bjz.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2329-2331)GGG>GGC		ADAMTS-like 3 precursor							57.0	61.0	60.0					15																	84611675		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611675G>C	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2331G>C	15.37:g.84611675G>C						ADAMTSL3_uc010bmt.1_Silent_p.G777G|ADAMTSL3_uc010bmu.1_Silent_p.G777G	p.G777G	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2555	+			777			TSP type-1 6.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2331G>C	CCDS10326.1																																																																																				0.537	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		5	21	0	0	0	0.001168	0	5	21				
ACAN	176	broad.mit.edu	37	15	89400832	89400832	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:89400832C>A	ENST00000561243.1	+	11	5016	c.5016C>A	c.(5014-5016)gcC>gcA	p.A1672A	ACAN_ENST00000559004.1_Silent_p.A1672A|ACAN_ENST00000439576.2_Silent_p.A1672A|ACAN_ENST00000352105.7_Silent_p.A1672A			P16112	PGCA_HUMAN	aggrecan	1726	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.A1558A(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGTCACAGCCTCCACTGCAA	0.537																																							uc010upo.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(5014-5016)GCC>GCA		aggrecan isoform 2 precursor							145.0	145.0	145.0					15																	89400832		1970	4151	6121	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400832C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5016C>A	15.37:g.89400832C>A						ACAN_uc010upp.1_Silent_p.A1672A|ACAN_uc002bna.2_RNA	p.A1672A	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5390	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1672					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.5016C>A	CCDS53970.1																																																																																				0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		6	94	1	0	0.00198382	0.001984	0.00238984	6	94				
BLM	641	broad.mit.edu	37	15	91303889	91303889	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:91303889G>A	ENST00000355112.3	+	7	1404	c.1286G>A	c.(1285-1287)aGa>aAa	p.R429K	BLM_ENST00000560509.1_Missense_Mutation_p.R429K	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	429	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.R429K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TCATTGTGGAGATACAGGCCT	0.393			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														uc002bpr.2		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(1285-1287)AGA>AAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							116.0	118.0	117.0					15																	91303889		2198	4298	6496	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91303889G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1286G>A	15.37:g.91303889G>A	ENSP00000347232:p.Arg429Lys					BLM_uc010uqh.1_Missense_Mutation_p.R429K|BLM_uc010uqi.1_Missense_Mutation_p.R54K|BLM_uc010bnx.2_Missense_Mutation_p.R429K|BLM_uc002bps.1_5'UTR	p.R429K	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		7	1383	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		429					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.1286G>A	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716988	0.30413	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.40476	1.03	5.72	-4.42	0.03579	.	0.688406	0.14173	N	0.336567	T	0.19805	0.0476	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17531	-1.0366	10	0.18710	T	0.47	-15.7068	2.4295	0.04468	0.4904:0.1213:0.2515:0.1368	.	429;429	B2RAN0;P54132	.;BLM_HUMAN	K	429;82	ENSP00000347232:R429K	ENSP00000347232:R429K	R	+	2	0	BLM	89104893	0.003000	0.15002	0.001000	0.08648	0.044000	0.14063	-0.359000	0.07632	-0.392000	0.07751	0.591000	0.81541	AGA		0.393	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			8	124	0	0	0	0.004482	0	8	124				
SV2B	9899	broad.mit.edu	37	15	91803568	91803568	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:91803568G>A	ENST00000394232.1	+	6	1407	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	SV2B_ENST00000330276.4_Missense_Mutation_p.A313T|SV2B_ENST00000545111.2_Missense_Mutation_p.A162T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	313					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.A313T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACATGATGAAGCCTGGATGAT	0.463																																							uc002bqv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(937-939)GCC>ACC		synaptic vesicle protein 2B homolog							155.0	156.0	156.0					15																	91803568		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91803568G>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.937G>A	15.37:g.91803568G>A	ENSP00000377779:p.Ala313Thr					SV2B_uc002bqt.2_Missense_Mutation_p.A313T|SV2B_uc010uqv.1_Missense_Mutation_p.A162T|SV2B_uc002bqu.3_RNA	p.A313T	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		5	1328	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		313			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.937G>A	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738649	0.89573	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	D;D;D	0.83250	-1.7;-1.7;-1.7	4.72	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046766	0.85682	D	0.000000	D	0.93374	0.7887	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.94842	0.8006	10	0.56958	D	0.05	-24.8262	16.5994	0.84807	0.0:0.0:1.0:0.0	.	313	Q7L1I2	SV2B_HUMAN	T	162;313;313	ENSP00000443243:A162T;ENSP00000377779:A313T;ENSP00000332818:A313T	ENSP00000332818:A313T	A	+	1	0	SV2B	89604572	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.335000	0.96500	2.312000	0.78011	0.561000	0.74099	GCC		0.463	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		10	62	0	0	0	0.001368	0	10	62				
CPPED1	55313	broad.mit.edu	37	16	12758931	12758931	+	Missense_Mutation	SNP	C	C	G	rs200926687		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:12758931C>G	ENST00000381774.4	-	4	997	c.757G>C	c.(757-759)Ggg>Cgg	p.G253R	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Missense_Mutation_p.G111R	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	253						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.G253W(2)|p.G253R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TAGGTACCCCCGGCATTCCTG	0.582																																							uc002dca.3		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(757-759)GGG>CGG		calcineurin-like phosphoesterase domain																																				SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12758931C>G	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.757G>C	16.37:g.12758931C>G	ENSP00000371193:p.Gly253Arg					CPPED1_uc002dcb.3_Missense_Mutation_p.G111R|CPPED1_uc002dbz.3_RNA	p.G253R	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			4	868	-			253					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.757G>C	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065295	0.93898	.	.	ENSG00000103381	ENST00000381774;ENST00000433677	T;D	0.93712	-0.36;-3.27	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96454	0.8843	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.969	D	0.94216	0.7463	10	0.17832	T	0.49	-27.6989	18.0718	0.89410	0.0:1.0:0.0:0.0	.	111;253	Q9BRF8-2;Q9BRF8	.;CPPED_HUMAN	R	253;111	ENSP00000371193:G253R;ENSP00000411127:G111R	ENSP00000371193:G253R	G	-	1	0	CPPED1	12666432	1.000000	0.71417	0.950000	0.38849	0.968000	0.65278	5.723000	0.68492	2.941000	0.99782	0.655000	0.94253	GGG		0.582	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		5	34	0	0	0	0.000602	0	5	34				
XYLT1	64131	broad.mit.edu	37	16	17202756	17202756	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:17202756C>A	ENST00000261381.6	-	12	2760	c.2676G>T	c.(2674-2676)cgG>cgT	p.R892R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	892			R -> Q (in dbSNP:rs35309694).		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.R892R(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						CTGCGTTCCTCCGTGCCTGTT	0.652																																							uc002dfa.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2674-2676)CGG>CGT		xylosyltransferase I							86.0	80.0	82.0					16																	17202756		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202756C>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.2676G>T	16.37:g.17202756C>A							p.R892R	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			12	2761	-			892			Lumenal (Potential).		Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2676G>T	CCDS10569.1																																																																																				0.652	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		7	59	1	0	5.18039e-06	0.00308	7.8153e-06	7	59				
ARL6IP1	23204	broad.mit.edu	37	16	18810034	18810034	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:18810034A>G	ENST00000304414.7	-	2	370	c.159T>C	c.(157-159)tcT>tcC	p.S53S	RP11-1035H13.3_ENST00000567078.2_Silent_p.S53S|ARL6IP1_ENST00000562819.1_Intron|ARL6IP1_ENST00000546206.2_Silent_p.S24S	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	53					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)		p.S53S(1)		breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GAAACACCAAAGAAACCACAC	0.423																																							uc002dfl.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)TCT>TCC		ADP-ribosylation factor-like 6 interacting							147.0	128.0	135.0					16																	18810034		2197	4300	6497	SO:0001819	synonymous_variant	23204					integral to membrane	protein binding	g.chr16:18810034A>G	BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"""ADP-ribosylation factor-like 6 interacting protein"""	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.159T>C	16.37:g.18810034A>G						ARL6IP1_uc010van.1_Silent_p.S24S|ARL6IP1_uc010bvz.1_RNA	p.S53S	NM_015161	NP_055976	Q15041	AR6P1_HUMAN			2	228	-			53			Helical; (Potential).			Silent	SNP	ENST00000304414.7	37	c.159T>C	CCDS10572.1																																																																																				0.423	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161		7	85	0	0	0	0.001984	0	7	85				
UMOD	7369	broad.mit.edu	37	16	20357478	20357478	+	Silent	SNP	G	G	T	rs143764582		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:20357478G>T	ENST00000570689.1	-	5	1298	c.1152C>A	c.(1150-1152)gcC>gcA	p.A384A	UMOD_ENST00000396134.2_Silent_p.A417A|UMOD_ENST00000396142.2_Silent_p.A384A|UMOD_ENST00000424589.1_Silent_p.A417A|UMOD_ENST00000396138.4_Silent_p.A433A|UMOD_ENST00000302509.4_Silent_p.A384A			P07911	UROM_HUMAN	uromodulin	384	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.A384A(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCCATCCCGGGCTGGGGTCA	0.587																																							uc002dgz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1150-1152)GCC>GCA		uromodulin precursor							37.0	38.0	38.0					16																	20357478		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357478G>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1152C>A	16.37:g.20357478G>T						UMOD_uc002dha.2_Silent_p.A384A|UMOD_uc002dhb.2_Silent_p.A417A	p.A384A	NM_003361	NP_003352	P07911	UROM_HUMAN			5	1281	-			384			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1152C>A	CCDS10583.1																																																																																				0.587	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			3	26	1	0	0.004672	0.004672	0.00544907	3	26				
DCUN1D3	123879	broad.mit.edu	37	16	20873563	20873563	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:20873563C>G	ENST00000324344.4	-	2	583	c.298G>C	c.(298-300)Gat>Cat	p.D100H	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.D100H|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	100	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)		p.D100H(1)		NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TCCCGCTCATCCTTGTAGCGC	0.532																																							uc002dhz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(298-300)GAT>CAT		DCN1, defective in cullin neddylation 1, domain							166.0	144.0	152.0					16																	20873563		2201	4300	6501	SO:0001583	missense	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20873563C>G	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.298G>C	16.37:g.20873563C>G	ENSP00000319482:p.Asp100His					ERI2_uc002dht.3_Intron	p.D100H	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	2	439	-			100			DCUN1.		B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	c.298G>C	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878942	0.91740	.	.	ENSG00000188215	ENST00000324344	D	0.94046	-3.34	6.03	6.03	0.97812	Domain of unknown function DUF298 (1);	0.042539	0.85682	D	0.000000	D	0.97514	0.9186	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97382	0.9983	10	0.66056	D	0.02	-19.2163	20.5568	0.99304	0.0:1.0:0.0:0.0	.	100	Q8IWE4	DCNL3_HUMAN	H	100	ENSP00000319482:D100H	ENSP00000319482:D100H	D	-	1	0	DCUN1D3	20781064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAT		0.532	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		15	132	0	0	0	0.004007	0	15	132				
ANKS4B	257629	broad.mit.edu	37	16	21245167	21245167	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:21245167C>G	ENST00000311620.5	+	1	182	c.109C>G	c.(109-111)Ctc>Gtc	p.L37V		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	37					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.L37V(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GACTCCTACTCTCTTGGCAGC	0.463																																							uc010bwp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(109-111)CTC>GTC		harmonin-interacting ankyrin-repeat containing							144.0	139.0	141.0					16																	21245167		1912	4121	6033	SO:0001583	missense	257629							g.chr16:21245167C>G	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.109C>G	16.37:g.21245167C>G	ENSP00000308772:p.Leu37Val						p.L37V	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	1	152	+			37			ANK 1.			Missense_Mutation	SNP	ENST00000311620.5	37	c.109C>G	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874322	0.72180	.	.	ENSG00000175311	ENST00000311620	T	0.71103	-0.54	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.64997	1.995	0.47621	D	0.999472	D	0.76494	0.999	D	0.71656	0.974	T	0.75508	-0.3293	10	0.21540	T	0.41	-11.7777	12.9758	0.58537	0.1616:0.8383:0.0:0.0	.	37	Q8N8V4	ANS4B_HUMAN	V	37	ENSP00000308772:L37V	ENSP00000308772:L37V	L	+	1	0	ANKS4B	21152668	0.909000	0.30893	0.991000	0.47740	0.979000	0.70002	1.909000	0.39917	2.462000	0.83206	0.655000	0.94253	CTC		0.463	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		3	68	0	0	0	0.000248	0	3	68				
HS3ST2	9956	broad.mit.edu	37	16	22826315	22826315	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:22826315G>C	ENST00000261374.3	+	1	818	c.384G>C	c.(382-384)cgG>cgC	p.R128R		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	128					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.R128R(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGGGCACCCGGGCCGTGCTGG	0.647																																							uc002dli.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(382-384)CGG>CGC		heparan sulfate D-glucosaminyl							13.0	17.0	15.0					16																	22826315		2181	4277	6458	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22826315G>C	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.384G>C	16.37:g.22826315G>C						HS3ST2_uc002dlj.2_RNA	p.R128R	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	456	+			128			PAPS and substrate (By similarity).|Lumenal (Potential).		Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.384G>C	CCDS10606.1																																																																																				0.647	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		5	21	0	0	0	0.000602	0	5	21				
USP31	57478	broad.mit.edu	37	16	23080339	23080339	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:23080339G>C	ENST00000219689.7	-	16	3086	c.3087C>G	c.(3085-3087)tcC>tcG	p.S1029S	USP31_ENST00000567975.1_Silent_p.S322S	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.S1029S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AAGTGCCTTTGGAACTGGGGG	0.542																																							uc002dll.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(3085-3087)TCC>TCG		ubiquitin specific peptidase 31							104.0	110.0	108.0					16																	23080339		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080339G>C	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3087C>G	16.37:g.23080339G>C						USP31_uc002dlk.2_Silent_p.S301S|USP31_uc010vca.1_Silent_p.S332S|USP31_uc010bxm.2_Silent_p.S317S	p.S1029S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3087	-			1029			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.3087C>G	CCDS10607.1																																																																																				0.542	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		12	66	0	0	0	0.001855	0	12	66				
USP31	57478	broad.mit.edu	37	16	23085137	23085137	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:23085137C>G	ENST00000219689.7	-	14	2240	c.2241G>C	c.(2239-2241)ctG>ctC	p.L747L	USP31_ENST00000567975.1_5'Flank	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	377	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.L747L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CATCTTCTGACAGCTGCTGCA	0.587																																							uc002dll.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(2239-2241)CTG>CTC		ubiquitin specific peptidase 31							90.0	76.0	81.0					16																	23085137		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23085137C>G	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2241G>C	16.37:g.23085137C>G						USP31_uc002dlk.2_5'Flank|USP31_uc010vca.1_Silent_p.L50L|USP31_uc010bxm.2_Silent_p.L35L	p.L747L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	14	2241	-			747					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.2241G>C	CCDS10607.1																																																																																				0.587	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		4	27	0	0	0	0.000248	0	4	27				
COG7	91949	broad.mit.edu	37	16	23436189	23436189	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:23436189C>A	ENST00000307149.5	-	7	1075	c.890G>T	c.(889-891)tGc>tTc	p.C297F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	297					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.C297F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTTGCTGAGGCAGGAGGGCAG	0.637																																							uc002dlo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(889-891)TGC>TTC		component of oligomeric golgi complex 7							54.0	52.0	53.0					16																	23436189		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23436189C>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.890G>T	16.37:g.23436189C>A	ENSP00000305442:p.Cys297Phe						p.C297F	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	7	1078	-			297					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.890G>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698123	0.68386	.	.	ENSG00000168434	ENST00000307149	T	0.41758	0.99	5.31	5.31	0.75309	.	0.083637	0.85682	D	0.000000	T	0.56659	0.2000	M	0.72118	2.19	0.80722	D	1	D	0.56287	0.975	P	0.57502	0.822	T	0.52518	-0.8565	10	0.10111	T	0.7	-16.2588	17.9761	0.89128	0.0:1.0:0.0:0.0	.	297	P83436	COG7_HUMAN	F	297	ENSP00000305442:C297F	ENSP00000305442:C297F	C	-	2	0	COG7	23343690	1.000000	0.71417	0.987000	0.45799	0.284000	0.27059	7.491000	0.81471	2.498000	0.84270	0.591000	0.81541	TGC		0.637	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			7	54	1	0	0.000157383	0.00308	0.000211083	7	54				
PALB2	79728	broad.mit.edu	37	16	23646849	23646849	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:23646849T>G	ENST00000261584.4	-	4	1170	c.1018A>C	c.(1018-1020)Aat>Cat	p.N340H		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	340	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N340H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGGTTTTCATTTGCTGGTAAG	0.338			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																															uc002dlx.1		NA	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(1018-1020)AAT>CAT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							109.0	105.0	106.0					16																	23646849		2197	4300	6497	SO:0001583	missense	79728	FanconAnemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646849T>G		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1018A>C	16.37:g.23646849T>G	ENSP00000261584:p.Asn340His						p.N340H	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1218	-			340					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1018A>C	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.685890	0.29962	.	.	ENSG00000083093	ENST00000261584	T	0.19250	2.16	6.17	0.0546	0.14311	.	0.709307	0.13648	N	0.372490	T	0.30947	0.0781	L	0.60455	1.87	0.09310	N	1	D	0.59767	0.986	P	0.59288	0.855	T	0.12066	-1.0562	10	0.62326	D	0.03	-3.3923	5.2788	0.15665	0.0:0.3013:0.1435:0.5553	.	340	Q86YC2	PALB2_HUMAN	H	340	ENSP00000261584:N340H	ENSP00000261584:N340H	N	-	1	0	PALB2	23554350	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.530000	0.06179	-0.258000	0.09446	0.533000	0.62120	AAT		0.338	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		12	97	0	0	0	0.000978	0	12	97				
SLC5A11	115584	broad.mit.edu	37	16	24888606	24888606	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:24888606A>T	ENST00000347898.3	+	7	1127	c.505A>T	c.(505-507)Atc>Ttc	p.I169F	SLC5A11_ENST00000565769.1_Missense_Mutation_p.I105F|SLC5A11_ENST00000567758.1_Missense_Mutation_p.I134F|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I105F|SLC5A11_ENST00000568579.1_Missense_Mutation_p.I99F|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I105F|SLC5A11_ENST00000424767.2_Missense_Mutation_p.I134F|SLC5A11_ENST00000545376.1_Missense_Mutation_p.I99F|SLC5A11_ENST00000449109.2_Missense_Mutation_p.I105F	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.I169F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCATCTTCATCCAGCAGTC	0.468																																							uc002dmu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(505-507)ATC>TTC		solute carrier family 5 (sodium/glucose							395.0	325.0	348.0					16																	24888606		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24888606A>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.505A>T	16.37:g.24888606A>T	ENSP00000289932:p.Ile169Phe					SLC5A11_uc002dms.2_Missense_Mutation_p.I105F|SLC5A11_uc010vcd.1_Missense_Mutation_p.I134F|SLC5A11_uc002dmt.2_Missense_Mutation_p.I105F|SLC5A11_uc010vce.1_Missense_Mutation_p.I99F|SLC5A11_uc010bxt.2_Missense_Mutation_p.I105F	p.I169F	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	7	737	+			169			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.505A>T	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580012	0.86645	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;1.0;0.999	D	0.95417	0.8503	10	0.87932	D	0	.	12.8548	0.57880	1.0:0.0:0.0:0.0	.	99;134;169;105	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	F	169;105;134;99;105	ENSP00000289932:I169F;ENSP00000389606:I105F;ENSP00000416782:I134F;ENSP00000441384:I99F;ENSP00000441018:I105F	ENSP00000289932:I169F	I	+	1	0	SLC5A11	24796107	1.000000	0.71417	0.972000	0.41901	0.922000	0.55478	8.441000	0.90313	1.973000	0.57446	0.459000	0.35465	ATC		0.468	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		18	299	0	0	0	0.008871	0	18	299				
ITGAL	3683	broad.mit.edu	37	16	30532894	30532894	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:30532894G>A	ENST00000356798.6	+	31	3601	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K	ITGAL_ENST00000358164.5_Missense_Mutation_p.E1057K|ITGAL_ENST00000433423.2_Missense_Mutation_p.E375K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1141					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.E1141K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGAAGACTCTGAGCAGCTGGC	0.552																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(3421-3423)GAG>AAG		integrin alpha L isoform a precursor	Efalizumab(DB00095)						70.0	74.0	73.0					16																	30532894		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30532894G>A		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.3421G>A	16.37:g.30532894G>A	ENSP00000349252:p.Glu1141Lys					ITGAL_uc002dyj.3_Missense_Mutation_p.E1057K|ITGAL_uc010vev.1_Missense_Mutation_p.E375K	p.E1141K	NM_002209	NP_002200	P20701	ITAL_HUMAN			31	3597	+			1141			Cytoplasmic (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.3421G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.039989	0.19669	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.57107	0.42;0.77;1.91	5.11	3.11	0.35812	.	0.751444	0.11977	N	0.511177	T	0.32496	0.0831	N	0.19112	0.55	0.09310	N	0.999999	B;B;B	0.22800	0.062;0.075;0.075	B;B;B	0.17979	0.014;0.02;0.02	T	0.17776	-1.0358	10	0.10377	T	0.69	.	8.5799	0.33621	0.1903:0.0:0.8097:0.0	.	375;1057;1141	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	K	1141;1057;375	ENSP00000349252:E1141K;ENSP00000350886:E1057K;ENSP00000409377:E375K	ENSP00000349252:E1141K	E	+	1	0	ITGAL	30440395	0.090000	0.21635	0.003000	0.11579	0.002000	0.02628	2.238000	0.43070	1.288000	0.44600	-0.263000	0.10527	GAG		0.552	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			5	55	0	0	0	0.001168	0	5	55				
SRCAP	10847	broad.mit.edu	37	16	30750714	30750714	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:30750714G>T	ENST00000262518.4	+	34	9738	c.9353G>T	c.(9352-9354)cGc>cTc	p.R3118L	SRCAP_ENST00000395059.2_Missense_Mutation_p.R3056L|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2960L|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3118					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R3118L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAAAACTGCGCTCGACCCGG	0.597																																							uc002dze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(9352-9354)CGC>CTC		Snf2-related CBP activator protein							58.0	62.0	61.0					16																	30750714		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750714G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9353G>T	16.37:g.30750714G>T	ENSP00000262518:p.Arg3118Leu					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2913L	p.R3118L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9738	+			3118					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.9353G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857326	0.32791	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.96802	-4.11;-4.12;-4.13	4.97	4.97	0.65823	.	0.000000	0.48286	D	0.000194	D	0.94883	0.8346	N	0.08118	0	0.37882	D	0.930439	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.94572	0.7772	10	0.27785	T	0.31	-6.6934	15.2431	0.73485	0.0:0.0:1.0:0.0	.	3056;3118	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	3118;3056;2960	ENSP00000262518:R3118L;ENSP00000378499:R3056L;ENSP00000343042:R2960L	ENSP00000262518:R3118L	R	+	2	0	SRCAP	30658215	1.000000	0.71417	0.994000	0.49952	0.941000	0.58515	5.894000	0.69806	2.584000	0.87258	0.462000	0.41574	CGC		0.597	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		4	40	1	0	2.56e-06	0.000248	3.89312e-06	4	40				
ITGAM	3684	broad.mit.edu	37	16	31308933	31308933	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:31308933G>T	ENST00000287497.8	+	13	1530	c.1455G>T	c.(1453-1455)caG>caT	p.Q485H	ITGAM_ENST00000544665.3_Missense_Mutation_p.Q485H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	485					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.Q485H(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACTACGAGCAGACCCGAGGGG	0.701																																							uc002ebq.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1453-1455)CAG>CAT		integrin alpha M isoform 2 precursor							57.0	65.0	62.0					16																	31308933		2193	4294	6487	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308933G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1455G>T	16.37:g.31308933G>T	ENSP00000287497:p.Gln485His					ITGAM_uc002ebr.2_Missense_Mutation_p.Q485H|ITGAM_uc010cam.1_Missense_Mutation_p.D89Y|ITGAM_uc010can.2_5'UTR	p.Q485H	NM_000632	NP_000623	P11215	ITAM_HUMAN			13	1553	+			485			FG-GAP 5.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1455G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	7.728	0.698583	0.15106	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.11385	2.78;2.78	4.0	1.84	0.25277	.	.	.	.	.	T	0.09468	0.0233	L	0.49778	1.585	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.27365	-1.0076	9	0.36615	T	0.2	.	4.2093	0.10503	0.1202:0.0:0.6522:0.2276	.	485;485	Q4VAK1;P11215	.;ITAM_HUMAN	H	485	ENSP00000441691:Q485H;ENSP00000287497:Q485H	ENSP00000287497:Q485H	Q	+	3	2	ITGAM	31216434	0.066000	0.20996	0.007000	0.13788	0.503000	0.33858	0.909000	0.28558	1.007000	0.39238	0.655000	0.94253	CAG		0.701	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		14	78	1	0	1.3612e-06	0.003163	2.12408e-06	14	78				
ITGAD	3681	broad.mit.edu	37	16	31409184	31409185	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:31409184_31409185GG>TT	ENST00000389202.2	+	5	430_431	c.381_382GG>TT	c.(379-384)ctGGgc>ctTTgc	p.G128C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	128					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.G128C(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						GCCTCCTGCTGGGCTCGCGCTG	0.644																																							uc002ebv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(379-384)CTGGGC>CTTTGC		integrin, alpha D precursor																																				SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409184_31409185GG>TT	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		Exception_encountered	16.37:g.31409184_31409185delinsTT	ENSP00000373854:p.Gly128Cys					ITGAD_uc010vfl.1_Missense_Mutation_p.G128C|ITGAD_uc010cap.1_Missense_Mutation_p.G128C|ITGAD_uc002ebw.1_5'UTR	p.G128C	NM_005353	NP_005344	Q13349	ITAD_HUMAN			5	430_431	+			128			FG-GAP 2.|Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	DNP	ENST00000389202.2	37	c.381_382GG>TT	CCDS32438.1																																																																																				0.644	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		4	22	0	0	0	0.004672	0	4	22				
NETO2	81831	broad.mit.edu	37	16	47162481	47162481	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:47162481G>C	ENST00000562435.1	-	4	620	c.236C>G	c.(235-237)gCt>gGt	p.A79G	NETO2_ENST00000303155.5_Missense_Mutation_p.A79G	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	79	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.A79G(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTGACGTGGAGCAGCTAGAAA	0.353										HNSCC(25;0.065)																													uc002eer.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GCT>GGT		neuropilin- and tolloid-like protein 2							124.0	130.0	128.0					16																	47162481		2202	4300	6502	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47162481G>C	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.236C>G	16.37:g.47162481G>C	ENSP00000455169:p.Ala79Gly	HNSCC(25;0.065)				NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Missense_Mutation_p.A79G	p.A79G	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN			4	621	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	79			Extracellular (Potential).|CUB 1.		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.236C>G	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582349	0.65992	.	.	ENSG00000171208	ENST00000303155	T	0.28069	1.63	5.92	5.92	0.95590	CUB (5);	0.162693	0.56097	D	0.000030	T	0.31167	0.0788	N	0.20483	0.58	0.54753	D	0.999983	P;P	0.47191	0.891;0.891	P;B	0.46419	0.516;0.389	T	0.03212	-1.1060	10	0.54805	T	0.06	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	79;79	Q32NC3;Q8NC67	.;NETO2_HUMAN	G	79	ENSP00000306726:A79G	ENSP00000306726:A79G	A	-	2	0	NETO2	45719982	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.995000	0.70631	2.809000	0.96659	0.655000	0.94253	GCT		0.353	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		17	87	0	0	0	0.00499	0	17	87				
N4BP1	9683	broad.mit.edu	37	16	48585318	48585318	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:48585318C>A	ENST00000262384.3	-	4	2332	c.2096G>T	c.(2095-2097)aGa>aTa	p.R699I	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	699					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.R746I(1)|p.R699I(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AGAAGCAATTCTTTCTCCAAA	0.483																																							uc002efp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2095-2097)AGA>ATA		Nedd4 binding protein 1							146.0	139.0	141.0					16																	48585318		1879	4123	6002	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48585318C>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.2096G>T	16.37:g.48585318C>A	ENSP00000262384:p.Arg699Ile						p.R699I	NM_153029	NP_694574	O75113	N4BP1_HUMAN			4	2333	-		all_cancers(37;0.179)|all_lung(18;0.11)	699					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.2096G>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347950	0.95807	.	.	ENSG00000102921	ENST00000262384	T	0.49139	0.79	5.67	5.67	0.87782	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.83953	2.67	0.80722	D	1	P	0.50066	0.931	P	0.59171	0.853	T	0.73503	-0.3962	10	0.66056	D	0.02	-19.5187	19.7863	0.96440	0.0:1.0:0.0:0.0	.	699	O75113	N4BP1_HUMAN	I	699	ENSP00000262384:R699I	ENSP00000262384:R699I	R	-	2	0	N4BP1	47142819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.556000	0.67307	2.665000	0.90641	0.655000	0.94253	AGA		0.483	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		7	94	1	0	0.000157383	0.00308	0.000211083	7	94				
CETP	1071	broad.mit.edu	37	16	57015098	57015098	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:57015098A>T	ENST00000566128.1	+	12	1247	c.980A>T	c.(979-981)tAt>tTt	p.Y327F	CETP_ENST00000200676.3_Missense_Mutation_p.Y392F|CETP_ENST00000379780.2_Missense_Mutation_p.Y332F					cholesteryl ester transfer protein, plasma									p.Y392F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CAGGCCTCCTATTCTAAGAAA	0.542																																							uc002eki.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1174-1176)TAT>TTT		cholesteryl ester transfer protein, plasma							84.0	90.0	88.0					16																	57015098		2198	4300	6498	SO:0001583	missense	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57015098A>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.980A>T	16.37:g.57015098A>T	ENSP00000456276:p.Tyr327Phe					CETP_uc002ekj.2_Missense_Mutation_p.Y332F	p.Y392F	NM_000078	NP_000069	P11597	CETP_HUMAN			12	1232	+			392	Y->S: Not secreted.					Missense_Mutation	SNP	ENST00000566128.1	37	c.1175A>T		.	.	.	.	.	.	.	.	.	.	A	14.88	2.667377	0.47677	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.08370	3.1;3.1	3.79	2.67	0.31697	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	U	0.000002	T	0.13543	0.0328	L	0.36672	1.1	0.33130	D	0.542979	D;D	0.89917	0.996;1.0	D;D	0.91635	0.98;0.999	T	0.21177	-1.0253	10	0.14252	T	0.57	-6.0654	6.2537	0.20861	0.8782:0.0:0.1218:0.0	.	332;392	P11597-2;P11597	.;CETP_HUMAN	F	392;332	ENSP00000200676:Y392F;ENSP00000369106:Y332F	ENSP00000200676:Y392F	Y	+	2	0	CETP	55572599	0.930000	0.31532	0.838000	0.33150	0.632000	0.37999	1.781000	0.38644	0.461000	0.27071	0.260000	0.18958	TAT		0.542	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		8	87	0	0	0	0.006214	0	8	87				
GOT2	2806	broad.mit.edu	37	16	58756164	58756164	+	Missense_Mutation	SNP	C	C	A	rs137905758	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:58756164C>A	ENST00000245206.5	-	3	393	c.265G>T	c.(265-267)Gca>Tca	p.A89S	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Intron	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	89					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.A89S(1)|p.A89T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AAATTTTTTGCGGCAATCTGG	0.408													C|||	6	0.00119808	0.0045	0.0	5008	,	,		15869	0.0		0.0	False		,,,				2504	0.0						uc002eof.1		NA																	2	Substitution - Missense(2)		lung(1)|breast(1)	central_nervous_system(1)|skin(1)	2						c.(265-267)GCA>TCA		aspartate aminotransferase 2 precursor	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	C	SER/ALA	8,4388	14.3+/-33.2	0,8,2190	68.0	66.0	67.0		265	4.5	1.0	16	dbSNP_134	67	0,8600		0,0,4300	yes	missense	GOT2	NM_002080.2	99	0,8,6490	AA,AC,CC		0.0,0.182,0.0616	benign	89/431	58756164	8,12988	2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58756164C>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.265G>T	16.37:g.58756164C>A	ENSP00000245206:p.Ala89Ser					GOT2_uc010vim.1_Intron	p.A89S	NM_002080	NP_002071	P00505	AATM_HUMAN			3	379	-			89					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.265G>T	CCDS10801.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.519	0.656234	0.14580	0.00182	0.0	ENSG00000125166	ENST00000245206;ENST00000425685	D	0.91124	-2.79	5.44	4.49	0.54785	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.294461	0.37095	N	0.002254	T	0.81361	0.4806	N	0.21373	0.66	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.72997	-0.4121	9	.	.	.	1.9438	8.0819	0.30750	0.2621:0.6628:0.0:0.0751	.	89	P00505	AATM_HUMAN	S	89	ENSP00000245206:A89S	.	A	-	1	0	GOT2	57313665	0.973000	0.33851	1.000000	0.80357	0.946000	0.59487	1.423000	0.34837	1.319000	0.45190	-0.219000	0.12488	GCA		0.408	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			12	46	1	0	7.03913e-09	0.001368	1.21342e-08	12	46				
CDH11	1009	broad.mit.edu	37	16	64981755	64981755	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:64981755G>C	ENST00000268603.4	-	13	2757	c.2142C>G	c.(2140-2142)agC>agG	p.S714R	CDH11_ENST00000566827.1_Missense_Mutation_p.S588R|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	714					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S714R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGACATCCACGCTGTTGGGCG	0.502			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(2140-2142)AGC>AGG		cadherin 11, type 2 preproprotein							116.0	108.0	110.0					16																	64981755		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981755G>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2142C>G	16.37:g.64981755G>C	ENSP00000268603:p.Ser714Arg	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.S588R	p.S714R	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2576	-		Ovarian(137;0.0973)	714			Cytoplasmic (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.2142C>G	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758756	0.31137	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.77098	-1.07	6.17	-11.8	0.00035	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.75085	2.285	0.43246	D	0.995162	B	0.27656	0.184	B	0.32090	0.14	T	0.63301	-0.6668	10	0.52906	T	0.07	.	20.8137	0.99722	0.3582:0.0:0.6418:0.0	.	714	P55287	CAD11_HUMAN	R	714;697	ENSP00000268603:S714R	ENSP00000268603:S714R	S	-	3	2	CDH11	63539256	0.011000	0.17503	0.224000	0.23877	0.923000	0.55619	-0.709000	0.05030	-2.594000	0.00455	-0.777000	0.03380	AGC		0.502	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		5	80	0	0	0	0.000602	0	5	80				
ZFP90	146198	broad.mit.edu	37	16	68598507	68598507	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:68598507A>G	ENST00000570495.1	+	5	2109	c.1817A>G	c.(1816-1818)gAa>gGa	p.E606G	ZFP90_ENST00000563169.2_Missense_Mutation_p.E606G|ZFP90_ENST00000398253.2_Missense_Mutation_p.E606G			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	606					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.E606G(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CATACTGGAGAAAAACCCTAT	0.403																																							uc010cff.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1816-1818)GAA>GGA		zinc finger protein 90							90.0	101.0	97.0					16																	68598507		2132	4280	6412	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598507A>G	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1817A>G	16.37:g.68598507A>G	ENSP00000460547:p.Glu606Gly					ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Missense_Mutation_p.E606G|ZFP90_uc002ewe.2_Missense_Mutation_p.E606G	p.E606G	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2109	+		Ovarian(137;0.192)	606					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1817A>G	CCDS42183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.49|17.49	3.402990|3.402990	0.62288|0.62288	.|.	.|.	ENSG00000184939|ENSG00000184939	ENST00000398253|ENST00000327567	T|.	0.07688|.	3.17|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.67325|0.67325	0.2881|0.2881	M|M	0.73372|0.73372	2.23|2.23	0.36498|0.36498	D|D	0.868846|0.868846	D|.	0.89917|.	1.0|.	D|.	0.70227|.	0.968|.	T|T	0.76102|0.76102	-0.3082|-0.3082	9|6	0.87932|0.72032	D|D	0|0.01	-14.3126|-14.3126	9.4195|9.4195	0.38541|0.38541	0.8414:0.0:0.0:0.1586|0.8414:0.0:0.0:0.1586	.|.	606|.	Q8TF47|.	ZFP90_HUMAN|.	G|E	606|79	ENSP00000381304:E606G|.	ENSP00000381304:E606G|ENSP00000329859:K79E	E|K	+|+	2|1	0|0	ZFP90|ZFP90	67156008|67156008	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.446000|7.446000	0.80609|0.80609	2.286000|2.286000	0.76751|0.76751	0.454000|0.454000	0.30748|0.30748	GAA|AAA		0.403	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		8	69	0	0	0	0.00308	0	8	69				
IST1	9798	broad.mit.edu	37	16	71954700	71954700	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:71954700A>T	ENST00000378799.6	+	5	772	c.416A>T	c.(415-417)aAc>aTc	p.N139I	IST1_ENST00000535424.1_Missense_Mutation_p.N152I|IST1_ENST00000329908.8_Missense_Mutation_p.N139I|IST1_ENST00000541571.2_Missense_Mutation_p.N139I|IST1_ENST00000538850.1_5'UTR|IST1_ENST00000538565.1_Intron|IST1_ENST00000544564.1_Missense_Mutation_p.N139I|IST1_ENST00000378798.5_Missense_Mutation_p.N139I|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000606369.1_Intron			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	139	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.N139I(1)									TGTAGGACCAACCAGATTGGA	0.418																																							uc002fbj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)AAC>ATC		SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;							180.0	147.0	158.0					16																	71954700		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	g.chr16:71954700A>T	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.416A>T	16.37:g.71954700A>T	ENSP00000368076:p.Asn139Ile					KIAA0174_uc010cgh.1_Missense_Mutation_p.N152I|KIAA0174_uc002fbk.1_Missense_Mutation_p.N139I|KIAA0174_uc002fbm.1_Missense_Mutation_p.N139I|KIAA0174_uc002fbl.1_Missense_Mutation_p.N139I|KIAA0174_uc002fbn.1_5'UTR|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_Missense_Mutation_p.N71I|KIAA0174_uc010vml.1_5'Flank|KIAA0174_uc010vmk.1_Intron	p.N152I			P53990	IST1_HUMAN			7	738	+			139			Interaction with VPS37B.|Interaction with CHMP1A and CHMP1B.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.455A>T	CCDS59272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.8|28.8	4.948548|4.948548	0.92593|0.92593	.|.	.|.	ENSG00000182149|ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000424485;ENST00000538963;ENST00000329908;ENST00000378798;ENST00000456820|ENST00000541848	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Domain of unknown function DUF292, eukaryotic (1);|.	0.080488|.	0.85682|.	D|.	0.000000|.	D|D	0.83931|0.83931	0.5361|0.5361	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.61697|.	0.963;0.942;0.99;0.968|.	D;P;D;P|.	0.66084|.	0.914;0.816;0.941;0.817|.	D|D	0.87150|0.87150	0.2208|0.2208	9|5	0.48119|.	T|.	0.1|.	-8.1389|-8.1389	16.0728|16.0728	0.80946|0.80946	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	139;139;139;152|.	P53990;P53990-2;P53990-3;A8KAH5|.	IST1_HUMAN;.;.;.|.	I|S	152;139;135;128;139;139;77|26	.|.	ENSP00000330408:N139I|.	N|T	+|+	2|1	0|0	KIAA0174|KIAA0174	70512201|70512201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.281000|9.281000	0.95811|0.95811	2.201000|2.201000	0.70794|0.70794	0.528000|0.528000	0.53228|0.53228	AAC|ACC		0.418	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		4	34	0	0	0	0.000248	0	4	34				
ADAMTS18	170692	broad.mit.edu	37	16	77396106	77396106	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:77396106C>A	ENST00000282849.5	-	7	1530	c.1112G>T	c.(1111-1113)tGg>tTg	p.W371L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	371	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W371L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGCAGACTGCCATTGACAAAA	0.403																																							uc002ffc.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1111-1113)TGG>TTG		ADAM metallopeptidase with thrombospondin type 1							124.0	105.0	112.0					16																	77396106		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77396106C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1112G>T	16.37:g.77396106C>A	ENSP00000282849:p.Trp371Leu					ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.W67L|ADAMTS18_uc010vni.1_Intron	p.W371L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			7	1531	-			371			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1112G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882448	0.91740	.	.	ENSG00000140873	ENST00000282849	D	0.93763	-3.28	5.13	5.13	0.70059	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.061993	0.64402	D	0.000001	D	0.97773	0.9269	H	0.95151	3.63	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.98776	1.0730	10	0.87932	D	0	.	17.767	0.88481	0.0:1.0:0.0:0.0	.	371	Q8TE60	ATS18_HUMAN	L	371	ENSP00000282849:W371L	ENSP00000282849:W371L	W	-	2	0	ADAMTS18	75953607	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.604000	0.82830	2.665000	0.90641	0.563000	0.77884	TGG		0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			7	32	1	0	8.12818e-05	0.001984	0.000110582	7	32				
PKD1L2	114780	broad.mit.edu	37	16	81181756	81181756	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:81181756C>A	ENST00000525539.1	-	0	4959				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.A1654S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGGTCACTGCCTCAGGTGTC	0.652																																							uc002fgh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4960-4962)GCA>TCA		polycystin 1-like 2 isoform a							25.0	27.0	26.0					16																	81181756		1940	4135	6075			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181756C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181756C>A						PKD1L2_uc002fgg.1_RNA	p.A1654S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			29	4960	-			1654			Cytoplasmic (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.4960G>T																																																																																					0.652	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			3	11	1	0	0.004672	0.004672	0.00544907	3	11				
CRISPLD2	83716	broad.mit.edu	37	16	84907567	84907567	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:84907567A>T	ENST00000262424.5	+	11	1378	c.1154A>T	c.(1153-1155)aAa>aTa	p.K385I	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.K384I|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.K385I	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	385	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.K385I(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TCAAAAGTGAAAGGTAAGCTA	0.343																																							uc010voh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1153-1155)AAA>ATA		cysteine-rich secretory protein LCCL domain							149.0	152.0	151.0					16																	84907567		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84907567A>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.1154A>T	16.37:g.84907567A>T	ENSP00000262424:p.Lys385Ile					CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.K384I|CRISPLD2_uc002fin.3_Missense_Mutation_p.K385I	p.K385I	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN			11	1381	+			385			LCCL 2.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.1154A>T	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.513741	0.44763	.	.	ENSG00000103196	ENST00000262424	T	0.65732	-0.17	5.61	1.61	0.23674	LCCL (2);	0.521829	0.23243	N	0.050334	T	0.53126	0.1777	L	0.44542	1.39	0.80722	D	1	B;B	0.33612	0.411;0.419	B;B	0.34652	0.11;0.187	T	0.52711	-0.8539	10	0.45353	T	0.12	.	12.8337	0.57761	0.3937:0.6062:0.0:0.0	.	385;385	Q9H0B8;Q9H0B8-2	CRLD2_HUMAN;.	I	385	ENSP00000262424:K385I	ENSP00000262424:K385I	K	+	2	0	CRISPLD2	83465068	0.863000	0.29885	0.964000	0.40570	0.731000	0.41821	0.907000	0.28531	0.443000	0.26582	0.533000	0.62120	AAA		0.343	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		20	94	0	0	0	0.001882	0	20	94				
ZNF778	197320	broad.mit.edu	37	16	89294046	89294046	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:89294046G>T	ENST00000433976.2	+	6	1598	c.1266G>T	c.(1264-1266)acG>acT	p.T422T	ZNF778_ENST00000306502.6_Silent_p.T380T|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	422					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.T422T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGCCATACACGTGTAAGGACT	0.498																																							uc002fmv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1264-1266)ACG>ACT		zinc finger protein 778							103.0	108.0	106.0					16																	89294046		2177	4290	6467	SO:0001819	synonymous_variant	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294046G>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1266G>T	16.37:g.89294046G>T						ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.T380T|ZNF778_uc010vpg.1_Silent_p.T185T	p.T422T	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1605	+			422			C2H2-type 8.		Q08AG0	Silent	SNP	ENST00000433976.2	37	c.1266G>T	CCDS45550.1																																																																																				0.498	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		3	33	1	0	0.004672	0.004672	0.00544907	3	33				
ATP2A3	489	broad.mit.edu	37	17	3839652	3839652	+	Silent	SNP	C	C	A	rs544896122		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:3839652C>A	ENST00000352011.3	-	16	2487	c.2433G>T	c.(2431-2433)ccG>ccT	p.P811P	ATP2A3_ENST00000309890.7_Silent_p.P811P|ATP2A3_ENST00000397043.3_Silent_p.P811P|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.P811P|ATP2A3_ENST00000359983.3_Silent_p.P811P|ATP2A3_ENST00000397035.3_Silent_p.P811P			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	811					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.P811P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGTCTGGCGGGTTGAAGC	0.637																																					GBM(32;29 774 15719 37967)	GBM(32;29 774 15719 37967)	uc002fxb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(2431-2433)CCG>CCT		ATPase, Ca++ transporting, ubiquitous isoform b							71.0	74.0	73.0					17																	3839652		2203	4300	6503	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3839652C>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2433G>T	17.37:g.3839652C>A						ATP2A3_uc002fwx.1_Silent_p.P811P|ATP2A3_uc002fwy.1_Silent_p.P811P|ATP2A3_uc002fwz.1_Silent_p.P811P|ATP2A3_uc002fxa.1_Silent_p.P811P|ATP2A3_uc002fxc.1_Silent_p.P811P|ATP2A3_uc002fxd.1_Silent_p.P811P	p.P811P	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	16	2584	-			811			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.2433G>T	CCDS11041.1																																																																																				0.637	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		5	54	1	0	5.9392e-07	0.001168	9.42309e-07	5	54				
ZZEF1	23140	broad.mit.edu	37	17	3954138	3954138	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:3954138T>G	ENST00000381638.2	-	36	5924	c.5800A>C	c.(5800-5802)Acc>Ccc	p.T1934P		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1934							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.T1934P(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTCCGCAGGGTGGTGGCACTG	0.607																																							uc002fxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(5800-5802)ACC>CCC		zinc finger, ZZ type with EF hand domain 1							64.0	59.0	61.0					17																	3954138		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3954138T>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5800A>C	17.37:g.3954138T>G	ENSP00000371051:p.Thr1934Pro					ZZEF1_uc002fxh.2_Missense_Mutation_p.T248P|ZZEF1_uc002fxi.2_Missense_Mutation_p.T169P|ZZEF1_uc002fxj.1_Missense_Mutation_p.T547P	p.T1934P	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			36	5864	-			1934					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.5800A>C	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938318	0.52972	.	.	ENSG00000074755	ENST00000381638	T	0.21361	2.01	5.66	1.03	0.20045	.	0.702507	0.14897	N	0.292023	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	P;B	0.42993	0.797;0.393	B;B	0.44315	0.446;0.059	T	0.12682	-1.0538	10	0.49607	T	0.09	-0.0099	5.3076	0.15813	0.0:0.2557:0.2634:0.4808	.	1934;1934	O43149-2;O43149	.;ZZEF1_HUMAN	P	1934	ENSP00000371051:T1934P	ENSP00000371051:T1934P	T	-	1	0	ZZEF1	3900887	0.000000	0.05858	0.191000	0.23289	0.883000	0.51084	-0.017000	0.12590	0.412000	0.25729	0.533000	0.62120	ACC		0.607	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		10	36	0	0	0	0.001368	0	10	36				
ASGR2	433	broad.mit.edu	37	17	7004962	7004962	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:7004962C>A	ENST00000380952.2	-	9	1132	c.868G>T	c.(868-870)Gac>Tac	p.D290Y	ASGR2_ENST00000446679.2_Missense_Mutation_p.D271Y|ASGR2_ENST00000254850.7_Missense_Mutation_p.D266Y|ASGR2_ENST00000355035.5_Missense_Mutation_p.D290Y	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	290	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)	p.D290Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGGCAGAAGTCATCGTTCCAG	0.597																																							uc002gep.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(868-870)GAC>TAC		asialoglycoprotein receptor 2 isoform a	Antihemophilic Factor(DB00025)						94.0	80.0	85.0					17																	7004962		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7004962C>A	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.868G>T	17.37:g.7004962C>A	ENSP00000370339:p.Asp290Tyr					ASGR2_uc010vtk.1_Missense_Mutation_p.D127Y|ASGR2_uc002gem.1_Missense_Mutation_p.D229Y|ASGR2_uc002gen.1_Missense_Mutation_p.D271Y|ASGR2_uc002geo.1_Missense_Mutation_p.D285Y|ASGR2_uc002ger.3_Missense_Mutation_p.D290Y|ASGR2_uc002geq.3_Missense_Mutation_p.D266Y	p.D290Y	NM_001181	NP_001172	P07307	ASGR2_HUMAN			9	1133	-			290			C-type lectin.|Extracellular (Potential).		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.868G>T	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869620	0.51588	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.78	-1.72	0.08107	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.501023	0.16388	N	0.216563	T	0.24122	0.0584	L	0.37466	1.105	0.09310	N	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.972;0.999;0.996;0.998;0.998	T	0.15464	-1.0436	10	0.02654	T	1	.	8.383	0.32483	0.0:0.3865:0.0:0.6135	.	266;290;285;271;290	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	Y	290;266;290;271	ENSP00000347140:D290Y;ENSP00000254850:D266Y;ENSP00000370339:D290Y;ENSP00000405844:D271Y	ENSP00000254850:D266Y	D	-	1	0	ASGR2	6945686	0.000000	0.05858	0.002000	0.10522	0.958000	0.62258	-0.208000	0.09371	-0.450000	0.07107	-0.365000	0.07479	GAC		0.597	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		9	37	1	0	1.12685e-05	0.004482	1.66247e-05	9	37				
CHRNB1	1140	broad.mit.edu	37	17	7350393	7350393	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:7350393A>G	ENST00000306071.2	+	5	452	c.385A>G	c.(385-387)Att>Gtt	p.I129V	RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|CHRNB1_ENST00000576360.1_Missense_Mutation_p.I57V|CHRNB1_ENST00000536404.2_Missense_Mutation_p.I57V	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	129					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.I129V(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GGCTCTGGACATTAGCGTCGT	0.652																																							uc002ghb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(385-387)ATT>GTT		nicotinic acetylcholine receptor beta 1 subunit							88.0	81.0	83.0					17																	7350393		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.chr17:7350393A>G	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.385A>G	17.37:g.7350393A>G	ENSP00000304290:p.Ile129Val					CHRNB1_uc010vty.1_Missense_Mutation_p.I57V|CHRNB1_uc010vtz.1_5'UTR	p.I129V	NM_000747	NP_000738	P11230	ACHB_HUMAN			5	426	+		Prostate(122;0.157)	129			Extracellular (Potential).		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	37	c.385A>G	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	A	1.743	-0.491223	0.04322	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.78246	-1.16;-1.16	5.57	0.562	0.17290	Neurotransmitter-gated ion-channel ligand-binding (3);	0.331846	0.31519	N	0.007505	T	0.38665	0.1049	N	0.00504	-1.425	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.04454	-1.0950	10	0.33141	T	0.24	.	3.4984	0.07664	0.408:0.0:0.1667:0.4253	.	129	P11230	ACHB_HUMAN	V	129;57	ENSP00000304290:I129V;ENSP00000439209:I57V	ENSP00000304290:I129V	I	+	1	0	CHRNB1	7291117	0.000000	0.05858	0.872000	0.34217	0.439000	0.31926	0.202000	0.17295	0.069000	0.16605	-0.589000	0.04120	ATT		0.652	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			5	46	0	0	0	0.001168	0	5	46				
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*	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	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> 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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)	GGGGGCAGCTCGTGGTGAGGC	0.567		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		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM031387	TP53	M		c.(892-894)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577046C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1086	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	39	1	0	0.00307968	0.00308	0.00367105	7	39				
PER1	5187	broad.mit.edu	37	17	8051528	8051528	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:8051528G>T	ENST00000317276.4	-	9	1335	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	PER1_ENST00000581082.1_Silent_p.P346P|PER1_ENST00000354903.5_Silent_p.P350P|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	366	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.P366P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGAGGCAGCTGGGTGTGTGCC	0.597			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																															uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(1096-1098)CCC>CCA	Other_conserved_DNA_damage_response_genes	period 1							101.0	92.0	95.0					17																	8051528		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8051528G>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1098C>A	17.37:g.8051528G>T						PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.P350P	p.P366P	NM_002616	NP_002607	O15534	PER1_HUMAN			9	1336	-			366			PAS 2.		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.1098C>A	CCDS11131.1																																																																																				0.597	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			7	42	1	0	0.00448238	0.004482	0.00529312	7	42				
MYH2	4620	broad.mit.edu	37	17	10433048	10433048	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:10433048G>T	ENST00000245503.5	-	24	3334	c.2950C>A	c.(2950-2952)Ctc>Atc	p.L984I	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L984I|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	984					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L984I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCTGTGAGGTTTTTCACC	0.468																																							uc010coi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2950-2952)CTC>ATC		myosin heavy chain IIa							199.0	199.0	199.0					17																	10433048		2202	4300	6502	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10433048G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2950C>A	17.37:g.10433048G>T	ENSP00000245503:p.Leu984Ile					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L984I|MYH2_uc010coj.2_Intron	p.L984I	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			24	3078	-			984			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2950C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302103	0.81136	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.91577	-2.87;-2.87	5.24	5.24	0.73138	.	0.000000	0.35436	U	0.003212	D	0.94499	0.8229	M	0.81179	2.53	0.58432	D	0.999996	D	0.56746	0.977	P	0.56612	0.802	D	0.94699	0.7881	10	0.62326	D	0.03	.	19.0151	0.92890	0.0:0.0:1.0:0.0	.	984	Q9UKX2	MYH2_HUMAN	I	984	ENSP00000245503:L984I;ENSP00000380367:L984I	ENSP00000245503:L984I	L	-	1	0	MYH2	10373773	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.137000	0.71710	2.718000	0.92993	0.591000	0.81541	CTC		0.468	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		21	213	1	0	1.96292e-10	0.001523	3.53388e-10	21	213				
DNAH9	1770	broad.mit.edu	37	17	11593206	11593206	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:11593206T>A	ENST00000262442.4	+	20	4135	c.4067T>A	c.(4066-4068)tTc>tAc	p.F1356Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.F1356Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1356	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.F1356Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGGATGCATTCACAGGCCTG	0.587																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(4066-4068)TTC>TAC		dynein, axonemal, heavy chain 9 isoform 2							28.0	22.0	24.0					17																	11593206		2202	4300	6502	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593206T>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4067T>A	17.37:g.11593206T>A	ENSP00000262442:p.Phe1356Tyr					DNAH9_uc010coo.2_Missense_Mutation_p.F650Y	p.F1356Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	4135	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1356			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.4067T>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	8.647	0.897364	0.17686	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.61040	0.14;0.14	5.73	5.73	0.89815	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	N	0.03948	-0.315	0.80722	D	1	B	0.12013	0.005	B	0.24155	0.051	T	0.30119	-0.9989	10	0.07030	T	0.85	.	16.0329	0.80593	0.0:0.0:0.0:1.0	.	1356	Q9NYC9	DYH9_HUMAN	Y	1356	ENSP00000262442:F1356Y;ENSP00000414874:F1356Y	ENSP00000262442:F1356Y	F	+	2	0	DNAH9	11533931	1.000000	0.71417	0.943000	0.38184	0.784000	0.44337	6.129000	0.71657	2.197000	0.70478	0.533000	0.62120	TTC		0.587	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		9	11	0	0	0	0.004482	0	9	11				
DNAH9	1770	broad.mit.edu	37	17	11593507	11593507	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:11593507G>A	ENST00000262442.4	+	20	4436	c.4368G>A	c.(4366-4368)cgG>cgA	p.R1456R	DNAH9_ENST00000454412.2_Silent_p.R1456R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1456	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R1456R(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCACCCACGGACCAATGTCC	0.493																																							uc002gne.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(4366-4368)CGG>CGA		dynein, axonemal, heavy chain 9 isoform 2							81.0	79.0	80.0					17																	11593507		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593507G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4368G>A	17.37:g.11593507G>A						DNAH9_uc010coo.2_Silent_p.R750R	p.R1456R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	4436	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1456			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.4368G>A	CCDS11160.1																																																																																				0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		19	40	0	0	0	0.001882	0	19	40				
SLC5A10	125206	broad.mit.edu	37	17	18922899	18922899	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:18922899G>C	ENST00000395645.3	+	12	1423	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	SLC5A10_ENST00000317977.6_Missense_Mutation_p.E439Q|SLC5A10_ENST00000395642.1_Missense_Mutation_p.E439Q|SLC5A10_ENST00000417251.2_Missense_Mutation_p.E433Q|SLC5A10_ENST00000395643.2_Missense_Mutation_p.E442Q|SLC5A10_ENST00000395647.2_Missense_Mutation_p.E485Q	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	469					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E485Q(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ACGTGCCAACGAGCAGGTGGG	0.642																																							uc002guu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1405-1407)GAG>CAG		solute carrier family 5 (sodium/glucose							59.0	54.0	55.0					17																	18922899		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18922899G>C		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1405G>C	17.37:g.18922899G>C	ENSP00000379007:p.Glu469Gln					SLC5A10_uc002gur.1_Missense_Mutation_p.E439Q|SLC5A10_uc002gut.1_Missense_Mutation_p.E485Q|SLC5A10_uc002guv.1_Missense_Mutation_p.E442Q|SLC5A10_uc010vyl.1_Missense_Mutation_p.E433Q|SLC5A10_uc002gux.1_RNA	p.E469Q	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN			12	1446	+			469			Cytoplasmic (Potential).		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.1405G>C	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422389	0.83559	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.23;-2.45;-2.45	4.49	4.49	0.54785	Sodium/solute symporter, conserved site (1);	0.102999	0.64402	D	0.000005	D	0.95326	0.8483	M	0.91612	3.225	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	0.80764	0.993;0.989;0.993;0.989;0.994	D	0.96337	0.9248	10	0.87932	D	0	.	15.0419	0.71796	0.0:0.0:1.0:0.0	.	433;442;469;485;439	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	Q	439;485;439;433;469;442	ENSP00000324346:E439Q;ENSP00000379008:E485Q;ENSP00000379004:E439Q;ENSP00000401875:E433Q;ENSP00000379007:E469Q;ENSP00000379005:E442Q	ENSP00000324346:E439Q	E	+	1	0	SLC5A10	18863624	1.000000	0.71417	0.987000	0.45799	0.520000	0.34377	7.807000	0.86032	2.201000	0.70794	0.561000	0.74099	GAG		0.642	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		8	14	0	0	0	0.008291	0	8	14				
NUFIP2	57532	broad.mit.edu	37	17	27613955	27613955	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:27613955C>G	ENST00000225388.4	-	2	1115	c.1057G>C	c.(1057-1059)Gtt>Ctt	p.V353L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	353						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V353L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATTTTAGGAACTATTTTAGCA	0.403																																							uc002hdy.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1057-1059)GTT>CTT		nuclear fragile X mental retardation protein							136.0	135.0	135.0					17																	27613955		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613955C>G	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1057G>C	17.37:g.27613955C>G	ENSP00000225388:p.Val353Leu					NUFIP2_uc002hdx.3_Intron	p.V353L	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1146	-			353					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.1057G>C	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813740	0.50527	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.65460	0.2693	L	0.36672	1.1	0.80722	D	1	D	0.54047	0.964	P	0.55087	0.768	T	0.63690	-0.6580	9	0.56958	D	0.05	-2.6272	20.8794	0.99867	0.0:1.0:0.0:0.0	.	353	Q7Z417	NUFP2_HUMAN	L	353	.	ENSP00000225388:V353L	V	-	1	0	NUFIP2	24638081	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GTT		0.403	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		17	87	0	0	0	0.006122	0	17	87				
TMEM132E	124842	broad.mit.edu	37	17	32959728	32959728	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:32959728C>T	ENST00000321639.5	+	7	1546	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	406						integral component of membrane (GO:0016021)		p.S406S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCCAGGTATCCAGCAGCTGTG	0.567																																							uc002hif.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1216-1218)TCC>TCT		transmembrane protein 132E precursor							153.0	122.0	132.0					17																	32959728		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32959728C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1218C>T	17.37:g.32959728C>T							p.S406S	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	7	1546	+			406			Extracellular (Potential).		Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.1218C>T	CCDS11283.1																																																																																				0.567	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		8	40	0	0	0	0.00308	0	8	40				
FBXL20	84961	broad.mit.edu	37	17	37437684	37437684	+	Silent	SNP	T	T	A	rs556335181		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:37437684T>A	ENST00000264658.6	-	9	914	c.654A>T	c.(652-654)gcA>gcT	p.A218A	FBXL20_ENST00000583610.1_Silent_p.A218A|FBXL20_ENST00000577399.1_Silent_p.A220A|FBXL20_ENST00000394294.3_Silent_p.A186A	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	218					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.A218A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CAGGGCAGTGTGCACCTATGT	0.328																																							uc010wed.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)GCA>GCT		F-box and leucine-rich repeat protein 20							95.0	92.0	93.0					17																	37437684		2203	4300	6503	SO:0001819	synonymous_variant	84961					cytoplasm		g.chr17:37437684T>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.654A>T	17.37:g.37437684T>A						FBXL20_uc002hrt.2_Silent_p.A218A|FBXL20_uc010cvu.2_Silent_p.A186A	p.A218A	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		9	875	-			218			LRR 6.		A8K729|Q38J52	Silent	SNP	ENST00000264658.6	37	c.654A>T	CCDS32640.1																																																																																				0.328	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		4	48	0	0	0	0.000248	0	4	48				
GRB7	2886	broad.mit.edu	37	17	37900435	37900435	+	Missense_Mutation	SNP	A	A	G	rs200349742		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:37900435A>G	ENST00000309156.4	+	7	1033	c.776A>G	c.(775-777)tAt>tGt	p.Y259C	GRB7_ENST00000445327.2_Missense_Mutation_p.Y282C|GRB7_ENST00000309185.3_Missense_Mutation_p.Y259C|GRB7_ENST00000394204.1_Missense_Mutation_p.Y259C|GRB7_ENST00000394209.2_Missense_Mutation_p.Y259C|GRB7_ENST00000394211.3_Missense_Mutation_p.Y259C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	259	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.Y259C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTGGCCTCTATTACTCCACC	0.562																																							uc002hsr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(775-777)TAT>TGT		growth factor receptor-bound protein 7							154.0	158.0	157.0					17																	37900435		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37900435A>G	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.776A>G	17.37:g.37900435A>G	ENSP00000310771:p.Tyr259Cys					GRB7_uc002hss.2_Missense_Mutation_p.Y259C|GRB7_uc010cwc.2_Missense_Mutation_p.Y259C|GRB7_uc002hst.2_Missense_Mutation_p.Y259C	p.Y259C	NM_005310	NP_005301	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		7	1026	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		259	Y->F: Global loss of tyrosine phosphorylation. Abolishes interaction with FHL2 and HAX1.		PH.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.776A>G	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625661	0.87560	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.42	5.42	0.78866	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90719	0.4633	10	0.87932	D	0	-16.762	14.4271	0.67222	1.0:0.0:0.0:0.0	.	259;259	Q14451-2;Q14451	.;GRB7_HUMAN	C	259;259;259;259;282;259	ENSP00000311752:Y259C;ENSP00000310771:Y259C;ENSP00000377761:Y259C;ENSP00000377759:Y259C;ENSP00000403459:Y282C;ENSP00000377754:Y259C	ENSP00000310771:Y259C	Y	+	2	0	GRB7	35153961	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.394000	0.79862	2.058000	0.61347	0.459000	0.35465	TAT		0.562	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		6	216	0	0	0	0.001168	0	6	216				
MED24	9862	broad.mit.edu	37	17	38183255	38183255	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:38183255C>G	ENST00000394128.2	-	17	1644	c.1563G>C	c.(1561-1563)gaG>gaC	p.E521D	MED24_ENST00000394126.1_Missense_Mutation_p.E546D|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000501516.3_Missense_Mutation_p.E540D|MED24_ENST00000394127.2_Missense_Mutation_p.E508D|MED24_ENST00000356271.3_Missense_Mutation_p.E508D	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	521					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E521D(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AGAAGGGCACCTCAGCTCCTG	0.667											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002htt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1561-1563)GAG>GAC		mediator complex subunit 24 isoform 1							52.0	44.0	47.0					17																	38183255		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38183255C>G	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1563G>C	17.37:g.38183255C>G	ENSP00000377686:p.Glu521Asp		OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	876	MED24_uc010wes.1_Missense_Mutation_p.E381D|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.E546D|MED24_uc002htu.2_Missense_Mutation_p.E508D|MED24_uc010cwn.2_Missense_Mutation_p.E508D|MED24_uc010weu.1_Missense_Mutation_p.E431D|MED24_uc010wev.1_Missense_Mutation_p.E471D|MED24_uc010wew.1_Missense_Mutation_p.E462D|MED24_uc010wex.1_Missense_Mutation_p.E226D|SNORD124_uc010wey.1_5'Flank	p.E521D	NM_014815	NP_055630	O75448	MED24_HUMAN			17	1876	-	Colorectal(19;0.000442)		521					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.1563G>C	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	C	9.966	1.224243	0.22457	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000431269	T;T;T	0.46819	0.87;0.87;0.86	4.5	-0.0527	0.13821	Mediator complex, subunit Med24, N-terminal (1);	0.101251	0.64402	N	0.000003	T	0.36054	0.0953	L	0.56769	1.78	0.41806	D	0.989945	P;B;P;P;P;P	0.39157	0.581;0.058;0.61;0.61;0.662;0.61	B;B;B;B;B;B	0.38327	0.271;0.022;0.127;0.127;0.201;0.196	T	0.24048	-1.0171	10	0.10902	T	0.67	-13.9752	8.5099	0.33211	0.0:0.5939:0.1154:0.2908	.	462;471;431;508;521;463	B4DSQ6;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	D	521;521;521;471;508;463;431	ENSP00000377686:E521D;ENSP00000443344:E471D;ENSP00000377685:E508D	ENSP00000348610:E521D	E	-	3	2	MED24	35436781	1.000000	0.71417	0.819000	0.32651	0.544000	0.35116	1.226000	0.32563	-0.072000	0.12864	-0.795000	0.03280	GAG		0.667	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		7	16	0	0	0	0.004482	0	7	16				
KRTAP4-8	728224	broad.mit.edu	37	17	39254037	39254037	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:39254037G>A	ENST00000333822.4	-	1	356	c.300C>T	c.(298-300)tgC>tgT	p.C100C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	100	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						agctggggcggcagcagctgg	0.662																																							uc010wfo.1		NA																	0					0						c.(298-300)TGC>TGT		keratin associated protein 4.8							6.0	9.0	8.0					17																	39254037		676	1553	2229	SO:0001819	synonymous_variant	728224					keratin filament		g.chr17:39254037G>A	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.300C>T	17.37:g.39254037G>A							p.C100C	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	339	-			100			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|16.		A8MSH3	Silent	SNP	ENST00000333822.4	37	c.300C>T	CCDS45674.1																																																																																				0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		3	23	0	0	0	0.001984	0	3	23				
GAST	2520	broad.mit.edu	37	17	39871799	39871799	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:39871799G>T	ENST00000329402.3	+	2	178	c.111G>T	c.(109-111)ggG>ggT	p.G37G	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	37					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.G37G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TAGGTACAGGGGCCAACAGGG	0.627																																							uc002hxl.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)GGG>GGT		gastrin preproprotein							84.0	86.0	85.0					17																	39871799		2203	4300	6503	SO:0001819	synonymous_variant	2520					extracellular region	hormone activity	g.chr17:39871799G>T		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.111G>T	17.37:g.39871799G>T						JUP_uc010wfs.1_Intron	p.G37G	NM_000805	NP_000796	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	143	+		Breast(137;0.000307)	37					P78463|P78464	Silent	SNP	ENST00000329402.3	37	c.111G>T	CCDS11404.1																																																																																				0.627	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			24	98	1	0	1.22574e-08	0.002299	2.10656e-08	24	98				
NT5C3B	115024	broad.mit.edu	37	17	39985171	39985171	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:39985171G>A	ENST00000435506.2	-	7	507	c.438C>T	c.(436-438)taC>taT	p.Y146Y	NT5C3B_ENST00000521789.1_Silent_p.Y113Y|NT5C3B_ENST00000269534.8_Silent_p.Y138Y			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	146					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.Y138Y(1)									TGTTGTTATGGTAGAGTGTGT	0.438																																							uc002hyc.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(538-540)TAC>TAT		5'-nucleotidase, cytosolic III-like							188.0	171.0	177.0					17																	39985171		2203	4300	6503	SO:0001819	synonymous_variant	115024					cytoplasm	5'-nucleotidase activity|magnesium ion binding	g.chr17:39985171G>A		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.438C>T	17.37:g.39985171G>A						NT5C3L_uc002hxx.3_Silent_p.Y45Y|NT5C3L_uc010wfu.1_Silent_p.Y45Y|NT5C3L_uc002hyb.3_Silent_p.Y103Y|NT5C3L_uc002hyd.3_Silent_p.Y103Y|NT5C3L_uc002hxy.3_Silent_p.Y138Y|NT5C3L_uc002hxz.3_Silent_p.Y103Y|NT5C3L_uc002hya.3_Intron	p.Y180Y	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.15)	7	549	-		Breast(137;0.000162)	146					A8MWB9|C9JKC4|Q7L3B7	Silent	SNP	ENST00000435506.2	37	c.540C>T	CCDS11410.2																																																																																				0.438	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935		12	63	0	0	0	0.001368	0	12	63				
ASB16	92591	broad.mit.edu	37	17	42248402	42248402	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:42248402C>A	ENST00000293414.1	+	1	329	c.245C>A	c.(244-246)gCc>gAc	p.A82D		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	82					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A82D(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GATGAAGAGGCCGCCAACATG	0.602																																							uc002ifl.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)	2						c.(244-246)GCC>GAC		ankyrin repeat and SOCS box-containing protein							38.0	38.0	38.0					17																	42248402		2203	4300	6503	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42248402C>A	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.245C>A	17.37:g.42248402C>A	ENSP00000293414:p.Ala82Asp					ASB16_uc002ifm.1_RNA	p.A82D	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	329	+		Breast(137;0.00765)|Prostate(33;0.0313)	82			ANK 1.		B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.245C>A	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570200	0.45798	.	.	ENSG00000161664	ENST00000293414	T	0.50277	0.75	5.36	5.36	0.76844	Ankyrin repeat-containing domain (2);	0.269333	0.43110	D	0.000604	T	0.31979	0.0814	N	0.04116	-0.275	0.19575	N	0.999968	B	0.31459	0.324	B	0.36534	0.227	T	0.24693	-1.0153	10	0.29301	T	0.29	-1.8684	18.0318	0.89286	0.0:1.0:0.0:0.0	.	82	Q96NS5	ASB16_HUMAN	D	82	ENSP00000293414:A82D	ENSP00000293414:A82D	A	+	2	0	ASB16	39603928	0.193000	0.23313	0.060000	0.19600	0.982000	0.71751	3.974000	0.56852	2.793000	0.96121	0.561000	0.74099	GCC		0.602	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			7	20	1	0	8.12818e-05	0.001984	0.000110582	7	20				
ITGA2B	3674	broad.mit.edu	37	17	42457994	42457994	+	Nonsense_Mutation	SNP	G	G	T	rs78218617		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:42457994G>T	ENST00000262407.5	-	14	1444	c.1413C>A	c.(1411-1413)taC>taA	p.Y471*	ITGA2B_ENST00000353281.4_Nonsense_Mutation_p.Y471*|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	471					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.Y471*(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGTTGGCCCCGTAAGCTCCCA	0.602																																							uc002igt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3	GRCh37	CM981074	ITGA2B	M	rs78218617	c.(1411-1413)TAC>TAA		integrin alpha 2b preproprotein	Tirofiban(DB00775)						119.0	111.0	114.0					17																	42457994		2203	4300	6503	SO:0001587	stop_gained	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42457994G>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1413C>A	17.37:g.42457994G>T	ENSP00000262407:p.Tyr471*					ITGA2B_uc002igu.1_5'UTR	p.Y471*	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	14	1445	-		Prostate(33;0.0181)	471			Extracellular (Potential).|FG-GAP 7.		B2RCY8|O95366|Q14443|Q17R67	Nonsense_Mutation	SNP	ENST00000262407.5	37	c.1413C>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638769	0.29157	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	.	.	.	5.02	-7.21	0.01490	.	0.565658	0.13400	N	0.390721	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	16.5135	0.84293	0.7659:0.0:0.2341:0.0	.	.	.	.	X	471	.	ENSP00000262407:Y471X	Y	-	3	2	ITGA2B	39813520	0.003000	0.15002	0.064000	0.19789	0.089000	0.18198	-1.365000	0.02587	-1.422000	0.02004	-0.793000	0.03317	TAC		0.602	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			3	43	1	0	0.00024832	0.000248	0.000325365	3	43				
GPATCH8	23131	broad.mit.edu	37	17	42477491	42477491	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:42477491C>A	ENST00000591680.1	-	8	1984	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	GPATCH8_ENST00000434000.1_Missense_Mutation_p.G574W	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	652							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G652W(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTCTCAGACCCATGGCTACCC	0.532											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002igw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1954-1956)GGG>TGG		G patch domain containing 8							61.0	60.0	60.0					17																	42477491		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477491C>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1954G>T	17.37:g.42477491C>A	ENSP00000467556:p.Gly652Trp		OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.1_Missense_Mutation_p.G574W|GPATCH8_uc010wiz.1_Missense_Mutation_p.G574W	p.G652W	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	2018	-		Prostate(33;0.0181)	652					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.1954G>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	9.425	1.083923	0.20309	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.02498	4.27	5.11	4.12	0.48240	.	0.479266	0.22326	N	0.061527	T	0.02304	0.0071	N	0.24115	0.695	0.09310	N	1	P	0.47106	0.89	B	0.39971	0.315	T	0.47222	-0.9134	10	0.66056	D	0.02	-0.0141	6.4209	0.21742	0.0:0.6514:0.1416:0.2071	.	652	Q9UKJ3	GPTC8_HUMAN	W	652;574	ENSP00000395016:G574W	ENSP00000335486:G652W	G	-	1	0	GPATCH8	39833017	0.000000	0.05858	0.731000	0.30826	0.937000	0.57800	-0.627000	0.05521	1.358000	0.45922	0.491000	0.48974	GGG		0.532	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		9	64	1	0	0.00448238	0.004482	0.00529312	9	64				
WNT9B	7484	broad.mit.edu	37	17	44953934	44953934	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:44953934G>T	ENST00000290015.2	+	4	977	c.924G>T	c.(922-924)gaG>gaT	p.E308D	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	308					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.E308D(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTCCCGGGAGGCCAGCTGCA	0.667																																							uc002ikw.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(922-924)GAG>GAT		wingless-type MMTV integration site family,							30.0	35.0	33.0					17																	44953934		2202	4299	6501	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44953934G>T	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.924G>T	17.37:g.44953934G>T	ENSP00000290015:p.Glu308Asp					WNT9B_uc002ikx.1_Intron	p.E308D	NM_003396	NP_003387	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	961	+			308					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.924G>T	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870164	0.33069	.	.	ENSG00000158955	ENST00000376843;ENST00000290015	T	0.75938	-0.98	5.39	-0.583	0.11706	.	0.198385	0.52532	N	0.000077	T	0.43787	0.1263	N	0.02751	-0.505	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.10543	-1.0625	10	0.48119	T	0.1	.	5.479	0.16713	0.2826:0.2546:0.4627:0.0	.	308	O14905	WNT9B_HUMAN	D	302;308	ENSP00000290015:E308D	ENSP00000290015:E308D	E	+	3	2	WNT9B	42308933	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.037000	0.30241	0.239000	0.21243	0.561000	0.74099	GAG		0.667	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		5	49	1	0	2.7689e-08	0.001984	4.68773e-08	5	49				
MYL4	4635	broad.mit.edu	37	17	45299181	45299181	+	Silent	SNP	G	G	T	rs371944933		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:45299181G>T	ENST00000354968.1	+	5	575	c.447G>T	c.(445-447)acG>acT	p.T149T	MYL4_ENST00000393450.1_Silent_p.T149T|snoU13_ENST00000516279.1_RNA|MYL4_ENST00000572316.1_Silent_p.T149T	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	149	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)	p.T149T(1)|p.?(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						GCAATGGCACGGTCATGGGTG	0.597																																							uc002ilg.2		NA																	2	Unknown(1)|Substitution - coding silent(1)		lung(2)	ovary(2)	2						c.(445-447)ACG>ACT		atrial/embryonic alkali myosin light chain							121.0	93.0	103.0					17																	45299181		2203	4300	6503	SO:0001819	synonymous_variant	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45299181G>T		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.447G>T	17.37:g.45299181G>T						MYL4_uc002ilh.2_Silent_p.T149T	p.T149T	NM_001002841	NP_001002841	P12829	MYL4_HUMAN			5	575	+			149			EF-hand 2.		D3DXJ7|P11783	Silent	SNP	ENST00000354968.1	37	c.447G>T	CCDS11510.1																																																																																				0.597	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		9	29	1	0	0.000442599	0.006214	0.000568128	9	29				
TMEM100	55273	broad.mit.edu	37	17	53798315	53798315	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:53798315C>A	ENST00000575734.1	-	4	925	c.117G>T	c.(115-117)gaG>gaT	p.E39D	TMEM100_ENST00000424486.2_Missense_Mutation_p.E39D|TMEM100_ENST00000570586.1_5'Flank	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	39					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.E39D(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCAACTGAATCTCACTGACCA	0.572																																							uc002iuj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(115-117)GAG>GAT		transmembrane protein 100							141.0	135.0	137.0					17																	53798315		2203	4300	6503	SO:0001583	missense	55273					integral to membrane		g.chr17:53798315C>A	AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.117G>T	17.37:g.53798315C>A	ENSP00000465638:p.Glu39Asp					TMEM100_uc002iuk.3_Missense_Mutation_p.E39D	p.E39D	NM_018286	NP_060756	Q9NV29	TM100_HUMAN			2	428	-			39					D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	c.117G>T	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228289	0.79576	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.91	5.91	0.95273	.	0.095882	0.64402	D	0.000001	T	0.75997	0.3926	M	0.71581	2.175	0.51767	D	0.999938	D	0.89917	1.0	D	0.83275	0.996	T	0.76239	-0.3032	9	0.51188	T	0.08	.	10.7139	0.46000	0.0:0.856:0.0:0.144	.	39	Q9NV29	TM100_HUMAN	D	39	.	ENSP00000299377:E39D	E	-	3	2	TMEM100	51153314	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.604000	0.24164	2.793000	0.96121	0.655000	0.94253	GAG		0.572	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286		15	69	1	0	1.02788e-11	0.00499	1.90175e-11	15	69				
TRIM25	7706	broad.mit.edu	37	17	54969240	54969240	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:54969240T>G	ENST00000316881.4	-	9	1763	c.1714A>C	c.(1714-1716)Acc>Ccc	p.T572P	TRIM25_ENST00000573108.1_5'Flank|TRIM25_ENST00000537230.1_Missense_Mutation_p.T572P|MIR3614_ENST00000581261.1_RNA|RP11-670E13.5_ENST00000574826.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	572	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T572P(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GTGGCCTTGGTGGAGGGCAGG	0.572																																							uc002iut.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|skin(1)	3						c.(1714-1716)ACC>CCC		tripartite motif-containing 25							73.0	63.0	66.0					17																	54969240		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54969240T>G	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1714A>C	17.37:g.54969240T>G	ENSP00000323889:p.Thr572Pro					TRIM25_uc010dcj.2_Missense_Mutation_p.T364P	p.T572P	NM_005082	NP_005073	Q14258	TRI25_HUMAN			9	1774	-	Breast(9;6.15e-08)		572			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000316881.4	37	c.1714A>C	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243895	0.39697	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.68903	-0.36;-0.36	4.83	3.68	0.42216	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000020	T	0.36552	0.0971	N	0.03000	-0.44	0.35064	D	0.761866	P	0.36768	0.569	B	0.38880	0.284	T	0.52660	-0.8546	10	0.02654	T	1	.	10.3439	0.43895	0.0:0.0:0.3064:0.6936	.	572	Q14258	TRI25_HUMAN	P	572	ENSP00000323889:T572P;ENSP00000445961:T572P	ENSP00000323889:T572P	T	-	1	0	TRIM25	52324239	0.990000	0.36364	1.000000	0.80357	0.996000	0.88848	1.817000	0.39002	1.803000	0.52742	0.418000	0.28097	ACC		0.572	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		5	44	0	0	0	0.000602	0	5	44				
OR4D2	124538	broad.mit.edu	37	17	56247135	56247135	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:56247135T>C	ENST00000545221.1	+	1	119	c.119T>C	c.(118-120)aTg>aCg	p.M40T		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M40T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCACTGTTATGGGAAACATC	0.498																																							uc010wnp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(118-120)ATG>ACG		olfactory receptor, family 4, subfamily D,							193.0	171.0	178.0					17																	56247135		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247135T>C		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.119T>C	17.37:g.56247135T>C	ENSP00000441354:p.Met40Thr						p.M40T	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	119	+			40			Helical; Name=1; (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.119T>C	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	T	4.750	0.139504	0.09083	.	.	ENSG00000255713	ENST00000545221	T	0.00457	7.29	5.4	4.3	0.51218	.	1.061280	0.07351	N	0.882454	T	0.00271	0.0008	N	0.03071	-0.42	0.22378	N	0.999151	B	0.02656	0.0	B	0.06405	0.002	T	0.45789	-0.9237	10	0.49607	T	0.09	-0.5168	8.5839	0.33646	0.0:0.099:0.0:0.901	.	40	P58180	OR4D2_HUMAN	T	40	ENSP00000441354:M40T	ENSP00000441354:M40T	M	+	2	0	OR4D2	53602134	0.020000	0.18652	0.509000	0.27700	0.221000	0.24807	1.348000	0.33987	0.983000	0.38602	0.496000	0.49642	ATG		0.498	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			22	98	0	0	0	0.001882	0	22	98				
BZRAP1	9256	broad.mit.edu	37	17	56386312	56386312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:56386312C>A	ENST00000343736.4	-	22	4484	c.4321G>T	c.(4321-4323)Gga>Tga	p.G1441*	BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.G1381*|BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.G1441*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1441						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.G1441*(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAGTCGTCCAGAGGCCTGG	0.692																																							uc002ivx.3		NA																	2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(4321-4323)GGA>TGA		peripheral benzodiazepine receptor-associated							30.0	37.0	35.0					17																	56386312		2178	4260	6438	SO:0001587	stop_gained	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386312C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4321G>T	17.37:g.56386312C>A	ENSP00000345824:p.Gly1441*					BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Nonsense_Mutation_p.G1381*|BZRAP1_uc010wnt.1_Nonsense_Mutation_p.G1441*	p.G1441*	NM_004758	NP_004749	O95153	RIMB1_HUMAN			22	5192	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1441					O75111|Q8N5W3	Nonsense_Mutation	SNP	ENST00000343736.4	37	c.4321G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	43	10.346089	0.99388	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	5.31	4.31	0.51392	.	1.247930	0.05134	N	0.493034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.2054	0.20600	0.1869:0.7149:0.0:0.0982	.	.	.	.	X	1441;1441;1381	.	ENSP00000268893:G1381X	G	-	1	0	BZRAP1	53741311	0.326000	0.24669	0.761000	0.31378	0.793000	0.44817	1.334000	0.33827	1.197000	0.43143	0.563000	0.77884	GGA		0.692	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		7	69	1	0	2.0095e-06	0.001984	3.08069e-06	7	69				
BZRAP1	9256	broad.mit.edu	37	17	56386537	56386537	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:56386537C>A	ENST00000343736.4	-	22	4259	c.4096G>T	c.(4096-4098)Ggg>Tgg	p.G1366W	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1306W|BZRAP1_ENST00000355701.3_Missense_Mutation_p.G1366W			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1366						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.G1366W(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCCCAGCCCCAGCAATGCA	0.632																																							uc002ivx.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(4096-4098)GGG>TGG		peripheral benzodiazepine receptor-associated							76.0	79.0	78.0					17																	56386537		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386537C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4096G>T	17.37:g.56386537C>A	ENSP00000345824:p.Gly1366Trp					BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.G1306W|BZRAP1_uc010wnt.1_Missense_Mutation_p.G1366W	p.G1366W	NM_004758	NP_004749	O95153	RIMB1_HUMAN			22	4967	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1366					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4096G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732795	0.48939	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04809	3.55;3.55;3.56	5.48	3.5	0.40072	.	0.534882	0.21015	N	0.081609	T	0.08313	0.0207	N	0.17082	0.46	0.09310	N	1	D;D;D	0.69078	0.986;0.997;0.994	P;D;P	0.63192	0.782;0.912;0.819	T	0.15350	-1.0440	10	0.72032	D	0.01	.	9.8784	0.41218	0.0:0.8582:0.0:0.1418	.	1366;1306;1366	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	W	1366;1366;1306	ENSP00000347929:G1366W;ENSP00000345824:G1366W;ENSP00000268893:G1306W	ENSP00000268893:G1306W	G	-	1	0	BZRAP1	53741536	0.010000	0.17322	0.054000	0.19295	0.842000	0.47809	1.998000	0.40796	0.688000	0.31529	0.563000	0.77884	GGG		0.632	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		4	69	1	0	0.000602214	0.000602	0.000754262	4	69				
CLTC	1213	broad.mit.edu	37	17	57725719	57725719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:57725719C>A	ENST00000269122.3	+	4	912	c.638C>A	c.(637-639)tCa>tAa	p.S213*	CLTC_ENST00000393043.1_Nonsense_Mutation_p.S213*|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	213	Globular terminal domain.|WD40-like repeat 5.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.S213*(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GCAGAAGAATCAACGTTATTT	0.403			T	"""ALK, TFE3"""	"""ALCL, renal """																																		uc002ixq.1		NA		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(637-639)TCA>TAA		clathrin heavy chain 1							204.0	182.0	189.0					17																	57725719		2203	4300	6503	SO:0001587	stop_gained	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57725719C>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.638C>A	17.37:g.57725719C>A	ENSP00000269122:p.Ser213*					CLTC_uc002ixp.2_Nonsense_Mutation_p.S213*|CLTC_uc002ixr.1_Nonsense_Mutation_p.S217*	p.S213*	NM_004859	NP_004850	Q00610	CLH1_HUMAN			4	1081	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		213			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Nonsense_Mutation	SNP	ENST00000269122.3	37	c.638C>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	38	6.697461	0.97772	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	.	.	.	5.98	5.98	0.97165	.	0.116238	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4496	0.99125	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000269122:S213X	S	+	2	0	CLTC	55080501	1.000000	0.71417	0.998000	0.56505	0.571000	0.35966	7.818000	0.86416	2.838000	0.97847	0.563000	0.77884	TCA		0.403	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		16	87	1	0	5.03518e-11	0.007413	9.25561e-11	16	87				
GH1	2688	broad.mit.edu	37	17	61995747	61995747	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:61995747G>T	ENST00000323322.5	-	2	172	c.130C>A	c.(130-132)Cat>Aat	p.H44N	GH1_ENST00000351388.4_Missense_Mutation_p.H44N|GH1_ENST00000342364.4_Missense_Mutation_p.H44N|GH1_ENST00000458650.2_Missense_Mutation_p.H44N|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	44					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.H44N(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TGCAGACGATGGGCGCGGAGC	0.592																																							uc002jdj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CAT>AAT		growth hormone 1 isoform 1							166.0	174.0	171.0					17																	61995747		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995747G>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.130C>A	17.37:g.61995747G>T	ENSP00000312673:p.His44Asn					GH1_uc002jdi.2_Missense_Mutation_p.H44N|GH1_uc002jdk.2_Missense_Mutation_p.H44N|GH1_uc002jdl.2_Missense_Mutation_p.H44N|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.H44N	p.H44N	NM_000515	NP_000506	P01241	SOMA_HUMAN			2	192	-			44				Zinc (By similarity).	A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.130C>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	14.96	2.691541	0.48097	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;T;D;D	0.90900	-2.75;0.9;-2.75;-2.75	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.117195	0.64402	D	0.000015	D	0.93314	0.7869	M	0.79475	2.455	0.24711	N	0.993208	B;B;B;P;P	0.36110	0.184;0.089;0.004;0.537;0.537	B;B;B;P;P	0.53649	0.176;0.016;0.026;0.731;0.731	D	0.87465	0.2410	10	0.72032	D	0.01	.	9.3531	0.38151	0.0:0.0:1.0:0.0	.	44;44;44;44;44	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	N	44	ENSP00000312673:H44N;ENSP00000408486:H44N;ENSP00000343791:H44N;ENSP00000339278:H44N	ENSP00000312673:H44N	H	-	1	0	GH1	59349479	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	5.334000	0.65923	1.594000	0.50039	0.298000	0.19748	CAT		0.592	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		14	165	1	0	7.93312e-07	0.00245	1.24304e-06	14	165				
SCN4A	6329	broad.mit.edu	37	17	62020273	62020273	+	Missense_Mutation	SNP	C	C	T	rs572380012	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:62020273C>T	ENST00000435607.1	-	23	4277	c.4201G>A	c.(4201-4203)Gtg>Atg	p.V1401M	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1401M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1401					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1401M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCTTGAGCACGCACTCCCCT	0.542													C|||	2	0.000399361	0.0	0.0	5008	,	,		25607	0.0		0.0	False		,,,				2504	0.002						uc002jds.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4201-4203)GTG>ATG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						191.0	182.0	185.0					17																	62020273		2203	4300	6503	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62020273C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4201G>A	17.37:g.62020273C>T	ENSP00000396320:p.Val1401Met						p.V1401M	NM_000334	NP_000325	P35499	SCN4A_HUMAN			23	4278	-			1401			IV.|Helical; Name=S2 of repeat IV; (Potential).		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4201G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892710	0.33442	.	.	ENSG00000007314	ENST00000435607	D	0.98889	-5.21	3.87	0.769	0.18492	Ion transport (1);	0.388529	0.26731	N	0.022797	D	0.97129	0.9062	M	0.69823	2.125	0.36521	D	0.870171	B	0.25521	0.128	B	0.29785	0.107	D	0.95834	0.8860	10	0.62326	D	0.03	.	9.0911	0.36612	0.0:0.7343:0.0:0.2657	.	1401	P35499	SCN4A_HUMAN	M	1401	ENSP00000396320:V1401M	ENSP00000396320:V1401M	V	-	1	0	SCN4A	59374005	0.001000	0.12720	0.947000	0.38551	0.940000	0.58332	0.012000	0.13287	0.422000	0.26005	0.462000	0.41574	GTG		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		7	47	0	0	0	0.00308	0	7	47				
SCN4A	6329	broad.mit.edu	37	17	62022924	62022924	+	Silent	SNP	C	C	A	rs200061238		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:62022924C>A	ENST00000435607.1	-	19	3592	c.3516G>T	c.(3514-3516)ctG>ctT	p.L1172L	SCN4A_ENST00000578147.1_Silent_p.L1172L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1172					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1172L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCTGAAGATCAGCCAGAAGA	0.562																																							uc002jds.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3514-3516)CTG>CTT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						216.0	218.0	217.0					17																	62022924		2203	4300	6503	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022924C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3516G>T	17.37:g.62022924C>A							p.L1172L	NM_000334	NP_000325	P35499	SCN4A_HUMAN			19	3593	-			1172			III.|Helical; Name=S5 of repeat III; (Potential).		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3516G>T	CCDS45761.1																																																																																				0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		27	162	1	0	3.73988e-18	0.00632	7.32501e-18	27	162				
ABCA10	10349	broad.mit.edu	37	17	67161197	67161198	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:67161197_67161198CC>AT	ENST00000269081.4	-	27	4098_4099	c.3189_3190GG>AT	c.(3187-3192)atGGta>atATta	p.1063_1064MV>IL	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1063					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.M1063_V1064>IL(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)					TGAGTTGATACCATAATTGTGG	0.302																																							uc010dfa.1		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3187-3192)ATGGTA>ATATTA		ATP-binding cassette, sub-family A, member 10																																				SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67161197_67161198CC>AT	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.3189_3190delinsAT	17.37:g.67161197_67161198delinsAT	ENSP00000269081:p.M1063_V1064delinsIL					ABCA10_uc010wqs.1_Missense_Mutation_p.55_56MV>IL|ABCA10_uc010wqt.1_RNA	p.1063_1064MV>IL	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			27	4068_4069	-	Breast(10;6.95e-12)		1063_1064			Helical; (Potential).		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	DNP	ENST00000269081.4	37	c.3189_3190GG>AT	CCDS11684.1																																																																																				0.302	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		5	25	0	0	0	0.004672	0	5	25				
KCNJ16	3773	broad.mit.edu	37	17	68128795	68128795	+	Silent	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:68128795T>G	ENST00000589377.1	+	2	730	c.567T>G	c.(565-567)ctT>ctG	p.L189L	KCNJ16_ENST00000283936.1_Silent_p.L189L|KCNJ16_ENST00000586462.1_Silent_p.L228L|KCNJ16_ENST00000392671.1_Silent_p.L189L|KCNJ16_ENST00000392670.1_Silent_p.L189L|KCNJ16_ENST00000585558.1_Silent_p.L224L	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	189					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.L189L(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)					ACTTTGCACTTATAGGTATGA	0.463																																							uc002jin.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(565-567)CTT>CTG		potassium inwardly-rectifying channel J16							84.0	76.0	79.0					17																	68128795		2203	4300	6503	SO:0001819	synonymous_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128795T>G	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.567T>G	17.37:g.68128795T>G						KCNJ16_uc002jio.2_Silent_p.L189L|KCNJ16_uc002jip.2_Silent_p.L189L|KCNJ16_uc002jiq.2_Silent_p.L221L	p.L189L	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	1053	+	Breast(10;2.96e-09)		189			Cytoplasmic (By similarity).			Silent	SNP	ENST00000589377.1	37	c.567T>G	CCDS11687.1																																																																																				0.463	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		14	70	0	0	0	0.00245	0	14	70				
GPR142	350383	broad.mit.edu	37	17	72368146	72368146	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:72368146C>A	ENST00000335666.4	+	4	844	c.796C>A	c.(796-798)Cat>Aat	p.H266N		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	266						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H266N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCCCCTGCACCATCGGGCCGC	0.657																																							uc010wqy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(796-798)CAT>AAT		G protein-coupled receptor 142							56.0	44.0	48.0					17																	72368146		2202	4300	6502	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368146C>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.796C>A	17.37:g.72368146C>A	ENSP00000335158:p.His266Asn					GPR142_uc010wqx.1_Missense_Mutation_p.H178N	p.H266N	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	796	+			266			Cytoplasmic (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.796C>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983154	0.34942	.	.	ENSG00000257008	ENST00000335666	T	0.37058	1.22	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.050642	0.85682	D	0.000000	T	0.50377	0.1612	M	0.66939	2.045	0.37563	D	0.919137	D;D	0.69078	0.997;0.993	D;D	0.70227	0.932;0.968	T	0.51052	-0.8754	10	0.23302	T	0.38	-21.0003	7.4154	0.27042	0.0:0.7923:0.0:0.2077	.	266;1228	Q7Z601;Q8NGB0	GP142_HUMAN;.	N	266	ENSP00000335158:H266N	ENSP00000335158:H266N	H	+	1	0	GPR142	69879741	0.978000	0.34361	0.845000	0.33349	0.016000	0.09150	2.325000	0.43840	2.708000	0.92522	0.650000	0.86243	CAT		0.657	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		3	27	1	0	0.004672	0.004672	0.00544907	3	27				
ZACN	353174	broad.mit.edu	37	17	74077485	74077485	+	Splice_Site	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:74077485T>A	ENST00000334586.5	+	6	752		c.e6+2		EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel						ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CAGGTGACGGTGAGTCAAGTC	0.622																																							uc002jqn.2		NA																	1	Unknown(1)		lung(1)		0						c.e6+2		zinc activated ligand-gated ion channel							115.0	116.0	116.0					17																	74077485		2203	4300	6503	SO:0001630	splice_region_variant	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077485T>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.669+2T>A	17.37:g.74077485T>A						ZACN_uc002jqo.2_Splice_Site|ZACN_uc010dgu.2_Splice_Site|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	p.T223_splice	NM_180990	NP_851321	Q401N2	ZACN_HUMAN			6	752	+								Q2TB29|Q6ZWK3|Q86YW4	Splice_Site	SNP	ENST00000334586.5	37	c.669_splice	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029025	0.35797	.	.	ENSG00000186919	ENST00000334586	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3294	0.49467	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZACN	71589080	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	1.238000	0.32707	1.874000	0.54306	0.459000	0.35465	.		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990	Intron	6	97	0	0	0	0.001984	0	6	97				
RNF157	114804	broad.mit.edu	37	17	74157643	74157643	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:74157643G>T	ENST00000269391.6	-	11	1170	c.1038C>A	c.(1036-1038)tcC>tcA	p.S346S	RNF157_ENST00000319945.6_Silent_p.S346S	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	346							zinc ion binding (GO:0008270)	p.S949S(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CAGATGTCTGGGATGAGATGA	0.498																																					GBM(186;507 2120 27388 27773 52994)	GBM(186;507 2120 27388 27773 52994)	uc002jqz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1036-1038)TCC>TCA		ring finger protein 157							128.0	124.0	125.0					17																	74157643		2203	4300	6503	SO:0001819	synonymous_variant	114804						zinc ion binding	g.chr17:74157643G>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1038C>A	17.37:g.74157643G>T						RNF157_uc002jra.2_Silent_p.S346S	p.S346S	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		11	1107	-			346					Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	37	c.1038C>A	CCDS32740.1																																																																																				0.498	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		5	52	1	0	1.23904e-05	0.000602	1.80687e-05	5	52				
QRICH2	84074	broad.mit.edu	37	17	74288492	74288492	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:74288492G>T	ENST00000262765.5	-	4	1997	c.1818C>A	c.(1816-1818)gtC>gtA	p.V606V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	606	Gln-rich.							p.V606V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTCCAGGTTGGACCAAACCAT	0.537																																							uc002jrd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1816-1818)GTC>GTA		glutamine rich 2							163.0	132.0	142.0					17																	74288492		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74288492G>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1818C>A	17.37:g.74288492G>T						QRICH2_uc010wsz.1_Silent_p.V532V|QRICH2_uc010dgw.1_Intron	p.V606V	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	1998	-			606			Gln-rich.		A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.1818C>A	CCDS32741.1																																																																																				0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		7	38	1	0	0.00307968	0.00308	0.00367105	7	38				
C1QTNF1	114897	broad.mit.edu	37	17	77043860	77043860	+	Missense_Mutation	SNP	A	A	G	rs149440649	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:77043860A>G	ENST00000339142.2	+	5	1091	c.536A>G	c.(535-537)aAc>aGc	p.N179S	C1QTNF1_ENST00000580454.1_Missense_Mutation_p.N179S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.N179S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.N97S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.N97S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.N179S|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.N189S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.N179S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.N179S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.N179S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	179	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)	p.N97S(1)|p.N179S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GACCACTTCAACATGTTCACC	0.557																																							uc002jwp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(535-537)AAC>AGC		C1q and tumor necrosis factor related protein 1		A	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	172.0	155.0	161.0		536,536,290	3.6	1.0	17	dbSNP_134	161	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	C1QTNF1	NM_030968.2,NM_198593.2,NM_198594.1	46,46,46	0,7,6496	GG,GA,AA		0.0814,0.0,0.0538	probably-damaging,probably-damaging,probably-damaging	179/282,179/282,97/200	77043860	7,12999	2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77043860A>G	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.536A>G	17.37:g.77043860A>G	ENSP00000340864:p.Asn179Ser					C1QTNF1_uc002jwq.2_Missense_Mutation_p.N97S|C1QTNF1_uc002jwr.3_Missense_Mutation_p.N189S|C1QTNF1_uc002jws.2_Missense_Mutation_p.N179S|C1QTNF1_uc002jwt.2_Missense_Mutation_p.N277S	p.N179S	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	876	+			179			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.536A>G	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816896	0.50633	0.0	8.14E-4	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.24350	1.86;1.86;1.86	4.72	3.64	0.41730	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.064388	0.64402	N	0.000016	T	0.30230	0.0758	M	0.69248	2.105	0.48236	D	0.999616	B;B;B	0.30889	0.299;0.167;0.156	B;B;B	0.36186	0.219;0.168;0.158	T	0.08351	-1.0726	10	0.72032	D	0.01	.	9.7401	0.40413	0.9179:0.0:0.0821:0.0	.	189;189;179	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	S	179;97;189;179;189	ENSP00000340864:N179S;ENSP00000311265:N97S;ENSP00000343230:N189S	ENSP00000311265:N97S	N	+	2	0	C1QTNF1	74555455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.769000	0.55303	0.668000	0.31126	0.459000	0.35465	AAC		0.557	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		8	77	0	0	0	0.006214	0	8	77				
MYOM1	8736	broad.mit.edu	37	18	3187492	3187492	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:3187492T>A	ENST00000356443.4	-	5	1248	c.915A>T	c.(913-915)gaA>gaT	p.E305D	MYOM1_ENST00000261606.7_Missense_Mutation_p.E305D|MYOM1_ENST00000400569.3_Missense_Mutation_p.E305D|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	305	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.E305D(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGACACGAGGTTCTGGCCAGC	0.433																																							uc002klp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(913-915)GAA>GAT		myomesin 1 isoform a							158.0	149.0	152.0					18																	3187492		1980	4150	6130	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3187492T>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.915A>T	18.37:g.3187492T>A	ENSP00000348821:p.Glu305Asp					MYOM1_uc002klq.2_Missense_Mutation_p.E305D	p.E305D	NM_003803	NP_003794	P52179	MYOM1_HUMAN			5	1249	-			305			Ig-like C2-type 1.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.915A>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.418139	0.25552	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.67345	-0.26;-0.26;-0.26	5.4	0.788	0.18601	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.236177	0.43579	D	0.000549	T	0.51686	0.1689	L	0.48218	1.51	0.32327	N	0.561571	B;B	0.11235	0.004;0.003	B;B	0.16289	0.013;0.015	T	0.49428	-0.8941	10	0.11182	T	0.66	.	9.121	0.36786	0.0:0.3149:0.0:0.6851	.	305;305	P52179-2;P52179	.;MYOM1_HUMAN	D	305	ENSP00000348821:E305D;ENSP00000383413:E305D;ENSP00000261606:E305D	ENSP00000261606:E305D	E	-	3	2	MYOM1	3177492	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	0.558000	0.23469	-0.031000	0.13781	0.455000	0.32223	GAA		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	88	0	0	0	0.004482	0	8	88				
DLGAP1	9229	broad.mit.edu	37	18	3534574	3534574	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:3534574T>A	ENST00000315677.3	-	10	2692	c.2097A>T	c.(2095-2097)gcA>gcT	p.A699A	DLGAP1_ENST00000400147.2_Silent_p.A397A|DLGAP1_ENST00000400155.1_Silent_p.A405A|DLGAP1_ENST00000400149.3_Silent_p.A389A|DLGAP1_ENST00000581699.1_Silent_p.A405A|DLGAP1_ENST00000400145.2_Silent_p.A397A|DLGAP1_ENST00000581527.1_Silent_p.A699A|DLGAP1_ENST00000515196.2_Silent_p.A699A|DLGAP1_ENST00000584874.1_Silent_p.A699A|DLGAP1_ENST00000534970.1_Silent_p.A383A|DLGAP1_ENST00000539435.1_Silent_p.A407A|DLGAP1_ENST00000400150.3_Silent_p.A415A	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	699					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.A407A(1)|p.A699A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGGCCTGTACTGCTGTCGTCA	0.463																																							uc002kmf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2095-2097)GCA>GCT		discs large homolog-associated protein 1 isoform							48.0	48.0	48.0					18																	3534574		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3534574T>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2097A>T	18.37:g.3534574T>A						DLGAP1_uc010wyz.1_Silent_p.A699A|DLGAP1_uc002kme.1_Silent_p.A397A|DLGAP1_uc010dkn.2_Silent_p.A407A|DLGAP1_uc010wyw.1_Silent_p.A405A|DLGAP1_uc010wyx.1_Silent_p.A421A|DLGAP1_uc010wyy.1_Silent_p.A383A|DLGAP1_uc002kmg.2_Silent_p.A397A	p.A699A	NM_004746	NP_004737	O14490	DLGP1_HUMAN			7	2164	-		Colorectal(8;0.0257)	699					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.2097A>T	CCDS11836.1																																																																																				0.463	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			16	19	0	0	0	0.001882	0	16	19				
DSC3	1825	broad.mit.edu	37	18	28586988	28586988	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:28586988A>T	ENST00000360428.4	-	12	1853	c.1773T>A	c.(1771-1773)taT>taA	p.Y591*	DSC3_ENST00000434452.1_Nonsense_Mutation_p.Y591*	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	591	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.Y591*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AAATGTCGGTATACCCCATTT	0.393																																							uc002kwj.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1771-1773)TAT>TAA		desmocollin 3 isoform Dsc3a preproprotein							137.0	126.0	130.0					18																	28586988		2203	4300	6503	SO:0001587	stop_gained	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28586988A>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1773T>A	18.37:g.28586988A>T	ENSP00000353608:p.Tyr591*					DSC3_uc002kwi.3_Nonsense_Mutation_p.Y591*	p.Y591*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		12	1928	-			591			Extracellular (Potential).|Cadherin 5.		A6NN35|Q14200|Q9HAZ9	Nonsense_Mutation	SNP	ENST00000360428.4	37	c.1773T>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078485	0.76528	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	.	.	.	5.11	-7.52	0.01341	.	0.000000	0.30492	N	0.009513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2981	0.37829	0.3768:0.0:0.5155:0.1077	.	.	.	.	X	591	.	ENSP00000353608:Y591X	Y	-	3	2	DSC3	26840986	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.885000	0.01620	-1.167000	0.02779	-0.400000	0.06385	TAT		0.393	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		4	39	0	0	0	0.000248	0	4	39				
DSG4	147409	broad.mit.edu	37	18	28983423	28983423	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:28983423C>A	ENST00000308128.4	+	11	1597	c.1462C>A	c.(1462-1464)Cct>Act	p.P488T	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P488T|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	488	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P488T(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATTGAGGTTCCTGATATCAA	0.383																																							uc002kwq.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(1462-1464)CCT>ACT		desmoglein 4 isoform 2 preproprotein							97.0	88.0	91.0					18																	28983423		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28983423C>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1462C>A	18.37:g.28983423C>A	ENSP00000311859:p.Pro488Thr					DSG4_uc002kwr.2_Missense_Mutation_p.P488T	p.P488T	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1597	+			488			Extracellular (Potential).|Cadherin 4.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1462C>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102112	0.37048	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.59083	0.29;0.29	5.71	4.82	0.62117	Cadherin (4);Cadherin-like (1);	0.509237	0.14813	N	0.296908	T	0.57829	0.2080	M	0.75447	2.3	0.30654	N	0.755115	P;B	0.38195	0.622;0.205	B;B	0.33454	0.164;0.156	T	0.62369	-0.6869	10	0.39692	T	0.17	.	15.532	0.75970	0.0:0.6235:0.3765:0.0	.	488;488	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	488	ENSP00000311859:P488T;ENSP00000352785:P488T	ENSP00000311859:P488T	P	+	1	0	DSG4	27237421	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.417000	0.34770	1.508000	0.48769	0.655000	0.94253	CCT		0.383	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		7	11	1	0	0.00307968	0.00308	0.00367105	7	11				
DSG2	1829	broad.mit.edu	37	18	29125892	29125892	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:29125892A>G	ENST00000261590.8	+	15	2752	c.2543A>G	c.(2542-2544)aAt>aGt	p.N848S	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	848					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N848S(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATAGATATAAATAAGGAAATT	0.373																																							uc002kwu.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2542-2544)AAT>AGT		desmoglein 2 preproprotein							69.0	69.0	69.0					18																	29125892		1816	4081	5897	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29125892A>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2543A>G	18.37:g.29125892A>G	ENSP00000261590:p.Asn848Ser					uc002kwv.3_Intron	p.N848S	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2731	+			848			Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2543A>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966625	0.53507	.	.	ENSG00000046604	ENST00000261590	T	0.57907	0.37	5.99	-1.43	0.08884	.	0.761530	0.12262	N	0.484592	T	0.25044	0.0608	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.13442	-1.0509	10	0.49607	T	0.09	.	2.5306	0.04702	0.5298:0.1102:0.2533:0.1067	.	848	Q14126	DSG2_HUMAN	S	848	ENSP00000261590:N848S	ENSP00000261590:N848S	N	+	2	0	DSG2	27379890	0.013000	0.17824	0.000000	0.03702	0.659000	0.38960	0.253000	0.18296	0.150000	0.19136	0.533000	0.62120	AAT		0.373	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		5	76	0	0	0	0.001168	0	5	76				
MEP1B	4225	broad.mit.edu	37	18	29790580	29790580	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:29790580T>C	ENST00000269202.6	+	10	1083	c.1036T>C	c.(1036-1038)Tat>Cat	p.Y346H	MEP1B_ENST00000581447.1_Missense_Mutation_p.Y346H	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	346	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y346H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATTTTACTTATATAACAGTGG	0.423																																							uc002kxj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1036-1038)TAT>CAT		meprin A beta precursor							98.0	97.0	97.0					18																	29790580		1897	4106	6003	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29790580T>C	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1036T>C	18.37:g.29790580T>C	ENSP00000269202:p.Tyr346His						p.Y346H	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			10	1083	+			346			Extracellular (Potential).|MAM.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.1036T>C	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.313927	0.23908	.	.	ENSG00000141434	ENST00000269202	T	0.01745	4.66	5.33	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.000000	0.85682	D	0.000000	T	0.01421	0.0046	N	0.12961	0.28	0.45046	D	0.998064	B	0.27117	0.168	B	0.28385	0.089	T	0.62704	-0.6798	10	0.18710	T	0.47	-19.0114	11.0718	0.48008	0.0:0.0731:0.0:0.9269	.	346	Q16820	MEP1B_HUMAN	H	346	ENSP00000269202:Y346H	ENSP00000269202:Y346H	Y	+	1	0	MEP1B	28044578	1.000000	0.71417	0.116000	0.21606	0.901000	0.52897	5.924000	0.70054	0.876000	0.35872	0.477000	0.44152	TAT		0.423	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		4	49	0	0	0	0.000602	0	4	49				
DTNA	1837	broad.mit.edu	37	18	32431892	32431892	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:32431892G>T	ENST00000399113.3	+	14	1451	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	DTNA_ENST00000444659.1_Splice_Site_p.R484I|DTNA_ENST00000596745.1_Splice_Site_p.R234I|DTNA_ENST00000283365.9_Splice_Site_p.R427I|DTNA_ENST00000595022.1_Splice_Site_p.R424I|DTNA_ENST00000597599.1_Splice_Site_p.R424I|DTNA_ENST00000598142.1_Splice_Site_p.R427I|DTNA_ENST00000399097.3_Splice_Site_p.R132I|DTNA_ENST00000598774.1_Splice_Site_p.R427I|DTNA_ENST00000269190.7_Splice_Site_p.R485I|DTNA_ENST00000399121.5_Splice_Site_p.R424I|DTNA_ENST00000556414.3_Splice_Site_p.R136I|DTNA_ENST00000269191.6_Splice_Site_p.R484I|DTNA_ENST00000269192.7_Splice_Site_p.R193I|DTNA_ENST00000597674.1_Splice_Site_p.R106I|DTNA_ENST00000599844.1_Splice_Site_p.R106I|DTNA_ENST00000601125.1_Splice_Site_p.R106I|DTNA_ENST00000348997.5_Splice_Site_p.R481I|DTNA_ENST00000591182.1_Splice_Site_p.R132I|DTNA_ENST00000598334.1_Splice_Site_p.R424I			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	484					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R132I(1)|p.R485I(1)|p.R484I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AACAAGAACAGGTGAGACTTT	0.463																																							uc010dmn.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1450-1452)AGA>ATA		dystrobrevin alpha isoform 1							89.0	70.0	76.0					18																	32431892		2203	4300	6503	SO:0001630	splice_region_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32431892G>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1451+1G>T	18.37:g.32431892G>T						DTNA_uc010xbx.1_Missense_Mutation_p.R234I|DTNA_uc002kxv.3_Missense_Mutation_p.R427I|DTNA_uc002kxw.2_Missense_Mutation_p.R427I|DTNA_uc010dmj.2_Missense_Mutation_p.R424I|DTNA_uc002kxz.2_Missense_Mutation_p.R424I|DTNA_uc002kxy.2_Missense_Mutation_p.R424I|DTNA_uc010dml.2_Missense_Mutation_p.R424I|DTNA_uc002kyb.3_Missense_Mutation_p.R481I|DTNA_uc010dmm.2_Missense_Mutation_p.R484I|DTNA_uc010xby.1_Missense_Mutation_p.R174I|DTNA_uc010dmo.2_Missense_Mutation_p.R106I|DTNA_uc002kyd.3_Missense_Mutation_p.R106I|DTNA_uc010xbz.1_Missense_Mutation_p.R193I|DTNA_uc010xca.1_Missense_Mutation_p.R136I|DTNA_uc002kye.2_Missense_Mutation_p.R132I	p.R484I	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			14	1452	+			484			Potential.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1451G>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287551	0.95517	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.67	5.67	0.87782	.	0.044927	0.85682	D	0.000000	D	0.94159	0.8126	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;P;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.997;0.999;0.999;0.986;0.977;0.956;0.999;0.999;0.977;0.984;0.998;0.999;0.994	D;D;D;D;D;P;D;P;D;D;D;P;D;D;D	0.91635	0.994;0.991;0.981;0.993;0.999;0.899;0.921;0.836;0.981;0.995;0.921;0.899;0.957;0.981;0.975	D	0.94225	0.7471	10	0.87932	D	0	-12.0384	19.7728	0.96373	0.0:0.0:1.0:0.0	.	136;193;174;234;106;484;484;424;427;132;481;424;435;427;427	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	I	427;427;424;485;132;481;484;484;484;484;193;132;136	ENSP00000283365:R427I;ENSP00000269190:R485I;ENSP00000382048:R132I;ENSP00000336682:R481I;ENSP00000405819:R484I;ENSP00000269191:R484I;ENSP00000382064:R484I;ENSP00000269192:R193I;ENSP00000452255:R136I	ENSP00000269190:R485I	R	+	2	0	DTNA	30685890	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.476000	0.97823	2.687000	0.91594	0.655000	0.94253	AGA		0.463	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390	Missense_Mutation	6	18	1	0	3.59834e-05	0.001168	5.08422e-05	6	18				
ZNF24	7572	broad.mit.edu	37	18	32920295	32920295	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:32920295T>C	ENST00000261332.6	-	2	499	c.320A>G	c.(319-321)gAg>gGg	p.E107G	ZNF24_ENST00000399061.3_Missense_Mutation_p.E107G|ZNF24_ENST00000589881.1_Missense_Mutation_p.E107G	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	107	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AGTCTGTAGCTCTTTGGGTAG	0.517																																					Colon(42;769 913 8916 19469 46270)	Colon(42;769 913 8916 19469 46270)	uc002kyt.2		NA																	0					0						c.(319-321)GAG>GGG		zinc finger protein 24							214.0	213.0	214.0					18																	32920295		2203	4300	6503	SO:0001583	missense	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32920295T>C	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.320A>G	18.37:g.32920295T>C	ENSP00000261332:p.Glu107Gly					ZNF24_uc002kys.2_Missense_Mutation_p.E107G|ZNF24_uc002kyu.1_Missense_Mutation_p.E107G	p.E107G	NM_006965	NP_008896	P17028	ZNF24_HUMAN			2	477	-			107			SCAN box.		O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	c.320A>G	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028105	0.75390	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.08634	3.07;3.07	4.62	4.62	0.57501	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.52532	D	0.000062	T	0.26557	0.0649	H	0.95539	3.685	0.37227	D	0.905526	P;D	0.56521	0.939;0.976	P;P	0.47981	0.556;0.563	T	0.53258	-0.8464	10	0.87932	D	0	.	12.3169	0.54962	0.0:0.0:0.0:1.0	.	107;107	P17028-2;P17028	.;ZNF24_HUMAN	G	107	ENSP00000261332:E107G;ENSP00000382015:E107G	ENSP00000261332:E107G	E	-	2	0	ZNF24	31174293	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.804000	0.47931	2.072000	0.62099	0.528000	0.53228	GAG		0.517	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		7	259	0	0	0	0.001984	0	7	259				
SERPINB3	6317	broad.mit.edu	37	18	61328427	61328427	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:61328427G>T	ENST00000283752.5	-	2	167	c.24C>A	c.(22-24)aaC>aaA	p.N8K	SERPINB3_ENST00000332821.8_Missense_Mutation_p.N8K|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	8					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.N8K(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						TGAACTTGGTGTTGGCTTCAC	0.413																																							uc002ljg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(22-24)AAC>AAA		SubName: Full=Squamous cell carcinoma antigen 2;							256.0	231.0	239.0					18																	61328427		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328427G>T	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.24C>A	18.37:g.61328427G>T	ENSP00000283752:p.Asn8Lys					SERPINB3_uc002lji.2_Missense_Mutation_p.N8K|SERPINB3_uc010dqa.2_Missense_Mutation_p.N8K|SERPINB3_uc010dqb.2_Missense_Mutation_p.N8K|SERPINB3_uc010dqc.2_Missense_Mutation_p.N8K	p.N8K			P48594	SPB4_HUMAN			1	50	-			8					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.24C>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005609	0.35415	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84146	-1.81;-1.81	3.13	0.0619	0.14342	Serpin domain (2);	1.241470	0.06033	N	0.653495	D	0.91831	0.7415	M	0.90425	3.115	0.09310	N	1	P;D;P;D;D	0.60160	0.947;0.987;0.551;0.987;0.987	P;P;P;P;P	0.60949	0.795;0.844;0.457;0.881;0.844	T	0.77504	-0.2563	10	0.72032	D	0.01	.	6.7939	0.23715	0.4779:0.0:0.5221:0.0	.	8;8;8;8;8	B3W5Y6;A8K847;P29508-2;P29508;Q5K684	.;.;.;SPB3_HUMAN;.	K	8	ENSP00000283752:N8K;ENSP00000329498:N8K	ENSP00000283752:N8K	N	-	3	2	SERPINB3	59479407	0.000000	0.05858	0.001000	0.08648	0.157000	0.22087	-0.286000	0.08399	-0.001000	0.14495	0.455000	0.32223	AAC		0.413	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		19	117	1	0	1.01871e-10	0.008871	1.85161e-10	19	117				
ZNF407	55628	broad.mit.edu	37	18	72345910	72345911	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:72345910_72345911GG>TT	ENST00000299687.5	+	1	2935_2936	c.2935_2936GG>TT	c.(2935-2937)GGa>TTa	p.G979L	ZNF407_ENST00000309902.6_Missense_Mutation_p.G979L|ZNF407_ENST00000582337.1_Missense_Mutation_p.G979L|ZNF407_ENST00000577538.1_Missense_Mutation_p.G979L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	979					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G979L(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTCTCTAGATGGAGAAGTTAAC	0.446																																							uc002llw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2935-2937)GGA>TTA		zinc finger protein 407 isoform 1																																				SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345910_72345911GG>TT	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		Exception_encountered	18.37:g.72345910_72345911delinsTT	ENSP00000299687:p.Gly979Leu					ZNF407_uc010xfc.1_Missense_Mutation_p.G979L|ZNF407_uc010dqu.1_Missense_Mutation_p.G979L|ZNF407_uc002llu.2_Missense_Mutation_p.G978L	p.G979L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2992_2993	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	979					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	DNP	ENST00000299687.5	37	c.2935_2936GG>TT	CCDS45885.1																																																																																				0.446	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		12	31	0	0	0	0.004672	0	12	31				
ADNP2	22850	broad.mit.edu	37	18	77896229	77896229	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:77896229G>T	ENST00000262198.4	+	4	3388	c.2933G>T	c.(2932-2934)aGa>aTa	p.R978I		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	978					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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.R978I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCTGTTAAGAGAAAGCTGCCT	0.547																																							uc002lnw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2932-2934)AGA>ATA		ADNP homeobox 2							64.0	71.0	68.0					18																	77896229		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896229G>T	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2933G>T	18.37:g.77896229G>T	ENSP00000262198:p.Arg978Ile						p.R978I	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3388	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	978					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.2933G>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096728	0.56075	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000015	T	0.75729	0.3889	L	0.60455	1.87	0.53005	D	0.999962	D	0.76494	0.999	D	0.68943	0.961	T	0.74589	-0.3615	8	.	.	.	-29.8968	18.5466	0.91048	0.0:0.0:1.0:0.0	.	978	Q6IQ32	ADNP2_HUMAN	I	978	.	.	R	+	2	0	ADNP2	75997220	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	5.733000	0.68571	2.612000	0.88384	0.655000	0.94253	AGA		0.547	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		16	77	1	0	1.15088e-07	0.004007	1.89204e-07	16	77				
ABCA7	10347	broad.mit.edu	37	19	1056364	1056364	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:1056364G>T	ENST00000263094.6	+	33	4683	c.4452G>T	c.(4450-4452)gtG>gtT	p.V1484V	ABCA7_ENST00000435683.2_Silent_p.V1346V|ABCA7_ENST00000433129.1_Silent_p.V1484V	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1484					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.V1484V(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCATGGTGGCCTTTGTCA	0.617																																							uc002lqw.3		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(4450-4452)GTG>GTT		ATP-binding cassette, sub-family A, member 7							106.0	96.0	100.0					19																	1056364		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056364G>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4452G>T	19.37:g.1056364G>T						ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank	p.V1484V	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	33	4683	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1484			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.4452G>T	CCDS12055.1																																																																																				0.617	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		8	33	1	0	3.09899e-07	0.004482	4.96537e-07	8	33				
SEMA6B	10501	broad.mit.edu	37	19	4550174	4550174	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:4550174G>T	ENST00000586582.1	-	12	1542	c.1232C>A	c.(1231-1233)tCg>tAg	p.S411*	SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.S411*|SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.S411*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	411	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S411*(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGCCCAGCGAGGGCACCGC	0.647																																							uc010duc.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1231-1233)TCG>TAG		semaphorin 6B precursor							66.0	53.0	57.0					19																	4550174		2203	4300	6503	SO:0001587	stop_gained	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4550174G>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1232C>A	19.37:g.4550174G>T	ENSP00000467290:p.Ser411*					SEMA6B_uc010dud.2_Nonsense_Mutation_p.S411*|SEMA6B_uc010xih.1_Nonsense_Mutation_p.S411*	p.S411*	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1270	-		Hepatocellular(1079;0.137)	411			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Nonsense_Mutation	SNP	ENST00000586582.1	37	c.1232C>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	33	5.235958	0.95240	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	.	.	.	2.17	2.17	0.27698	.	0.142257	0.49305	U	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0039	0.53248	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000301292:S411X	S	-	2	0	SEMA6B	4501174	0.372000	0.25064	0.989000	0.46669	0.817000	0.46193	3.347000	0.52200	1.580000	0.49851	0.478000	0.44815	TCG		0.647	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		10	29	1	0	1.58986e-06	0.008291	2.46733e-06	10	29				
CLEC4M	10332	broad.mit.edu	37	19	7832409	7832409	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:7832409T>A	ENST00000327325.5	+	6	1062	c.944T>A	c.(943-945)cTa>cAa	p.L315Q	CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000334806.5_Missense_Mutation_p.L264Q|CLEC4M_ENST00000596707.1_Missense_Mutation_p.L248Q|CLEC4M_ENST00000595496.1_Missense_Mutation_p.L179Q|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.L293Q|CLEC4M_ENST00000359059.5_Missense_Mutation_p.L248Q|CLEC4M_ENST00000394122.2_Missense_Mutation_p.L303Q|CLEC4M_ENST00000597522.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	315	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.L315Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGAACTTCCTACAGCTGCAG	0.542																																							uc002mih.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(874-876)CTA>CAA		C-type lectin domain family 4, member M isoform							96.0	84.0	88.0					19																	7832409		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7832409T>A	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.944T>A	19.37:g.7832409T>A	ENSP00000316228:p.Leu315Gln					CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.L248Q|CLEC4M_uc010dvt.2_Missense_Mutation_p.L269Q|CLEC4M_uc010dvs.2_Missense_Mutation_p.L291Q|CLEC4M_uc010xjx.1_Missense_Mutation_p.L264Q|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Intron|CLEC4M_uc002mia.2_Missense_Mutation_p.L179Q	p.L292Q	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			7	993	+			315			Extracellular (Probable).|C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.875T>A	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670863	0.47781	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	2.42	2.42	0.29668	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.61949	0.2388	H	0.98407	4.225	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.87578	0.997;0.884;0.993;0.987;0.998;0.998	T	0.67864	-0.5560	9	0.87932	D	0	.	6.7841	0.23664	0.0:0.0:0.0:1.0	.	264;248;315;303;292;179	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	Q	315;303;293;264;248	ENSP00000316228:L315Q;ENSP00000377680:L303Q;ENSP00000248228:L293Q;ENSP00000335228:L264Q;ENSP00000351954:L248Q	ENSP00000248228:L293Q	L	+	2	0	CLEC4M	7738409	0.738000	0.28186	0.729000	0.30791	0.141000	0.21300	2.487000	0.45268	1.366000	0.46076	0.454000	0.30748	CTA		0.542	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		4	29	0	0	0	0.000248	0	4	29				
CERS4	79603	broad.mit.edu	37	19	8321907	8321907	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:8321907G>A	ENST00000251363.5	+	9	987	c.687G>A	c.(685-687)ctG>ctA	p.L229L	CERS4_ENST00000559336.1_Silent_p.L229L|CERS4_ENST00000558331.1_Silent_p.L178L|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Silent_p.L229L	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	229	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.L229L(1)									CCAACCTGCTGCGCATTGGCT	0.587																																							uc002mjg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(685-687)CTG>CTA		LAG1 homolog, ceramide synthase 4							257.0	242.0	247.0					19																	8321907		2203	4300	6503	SO:0001819	synonymous_variant	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8321907G>A		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.687G>A	19.37:g.8321907G>A						LASS4_uc002mjh.2_Silent_p.L178L|LASS4_uc002mji.2_Silent_p.L65L|LASS4_uc010dvz.2_Silent_p.L229L	p.L229L	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN			9	1007	+			229			Helical; (Potential).|TLC.		D6W665	Silent	SNP	ENST00000251363.5	37	c.687G>A	CCDS12197.1																																																																																				0.587	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		41	189	0	0	0	0.002852	0	41	189				
MYO1F	4542	broad.mit.edu	37	19	8619559	8619559	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:8619559C>G	ENST00000338257.8	-	3	477	c.210G>C	c.(208-210)gaG>gaC	p.E70D		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	70	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.E70D(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						AGAGGTCGATCTCACGGTCGG	0.627																																							uc002mkg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(208-210)GAG>GAC		myosin IF							121.0	116.0	118.0					19																	8619559		1992	4162	6154	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8619559C>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.210G>C	19.37:g.8619559C>G	ENSP00000344871:p.Glu70Asp					MYO1F_uc002mkh.2_Missense_Mutation_p.E70D|MYO1F_uc010xkf.1_Missense_Mutation_p.E70D	p.E70D	NM_012335	NP_036467	O00160	MYO1F_HUMAN			3	324	-			70			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.210G>C	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973297	0.74246	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95238	-3.65	4.68	2.5	0.30297	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95268	0.8465	M	0.64630	1.985	0.58432	D	0.999998	B;P;D	0.89917	0.099;0.943;1.0	B;P;D	0.87578	0.06;0.733;0.998	D	0.92827	0.6277	10	0.35671	T	0.21	.	6.7262	0.23359	0.0:0.6842:0.0:0.3158	.	70;70;70	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	D	115;70	ENSP00000344871:E70D	ENSP00000304899:E115D	E	-	3	2	MYO1F	8525559	0.999000	0.42202	0.993000	0.49108	0.926000	0.56050	0.725000	0.25970	0.948000	0.37687	0.455000	0.32223	GAG		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			11	33	0	0	0	0.001855	0	11	33				
OR7G1	125962	broad.mit.edu	37	19	9225719	9225719	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:9225719A>T	ENST00000541538.1	-	1	720	c.721T>A	c.(721-723)Tgt>Agt	p.C241S	OR7G1_ENST00000293614.1_Missense_Mutation_p.C241S	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C241S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGACAGCCACAGGTGGAAAAC	0.433																																							uc002mks.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(721-723)TGT>AGT		olfactory receptor, family 7, subfamily G,							94.0	94.0	94.0					19																	9225719		2203	4300	6503	SO:0001583	missense	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9225719A>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.721T>A	19.37:g.9225719A>T	ENSP00000444134:p.Cys241Ser						p.C241S	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN			1	721	-			241			Cytoplasmic (Potential).		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	c.721T>A	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	a	15.23	2.770677	0.49680	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00369	7.74;7.74	3.78	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.171620	0.27936	U	0.017252	T	0.02012	0.0063	H	0.99249	4.485	0.29417	N	0.860804	D	0.76494	0.999	D	0.77557	0.99	T	0.05699	-1.0869	10	0.87932	D	0	.	12.1672	0.54138	1.0:0.0:0.0:0.0	.	241	Q8NGA0	OR7G1_HUMAN	S	241	ENSP00000293614:C241S;ENSP00000444134:C241S	ENSP00000293614:C241S	C	-	1	0	OR7G1	9086719	0.997000	0.39634	0.990000	0.47175	0.367000	0.29736	5.030000	0.64128	1.700000	0.51204	0.410000	0.27636	TGT		0.433	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			4	32	0	0	0	0.000248	0	4	32				
ZNF846	162993	broad.mit.edu	37	19	9868262	9868262	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:9868262T>C	ENST00000397902.2	-	6	1904	c.1491A>G	c.(1489-1491)acA>acG	p.T497T	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	497					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.T497T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TGTGAGTTCGTGTGTGAACGT	0.403																																							uc002mmb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1489-1491)ACA>ACG		zinc finger protein 846							124.0	133.0	130.0					19																	9868262		2138	4282	6420	SO:0001819	synonymous_variant	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868262T>C	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1491A>G	19.37:g.9868262T>C						ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Silent_p.T368T	p.T497T	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			6	2022	-			497			C2H2-type 13.		A8K0H1|B3KUP1	Silent	SNP	ENST00000397902.2	37	c.1491A>G	CCDS42496.1																																																																																				0.403	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		12	80	0	0	0	0.000978	0	12	80				
S1PR5	53637	broad.mit.edu	37	19	10624666	10624666	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:10624666G>C	ENST00000439028.3	-	2	1147	c.1022C>G	c.(1021-1023)gCg>gGg	p.A341G	S1PR5_ENST00000333430.4_Missense_Mutation_p.A341G	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	341					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.A341G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	AGCCTCAGCCGCGCTCGCCGA	0.746																																							uc002mot.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1021-1023)GCG>GGG		endothelial differentiation, sphingolipid							6.0	8.0	8.0					19																	10624666		2027	3978	6005	SO:0001583	missense	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10624666G>C	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.1022C>G	19.37:g.10624666G>C	ENSP00000416915:p.Ala341Gly					S1PR5_uc002mou.1_Missense_Mutation_p.A341G	p.A341G	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			2	1079	-			341			Cytoplasmic (By similarity).		Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	c.1022C>G	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483436	0.26598	.	.	ENSG00000180739	ENST00000439028;ENST00000333430	D;D	0.81996	-1.56;-1.56	4.66	-5.26	0.02772	.	.	.	.	.	T	0.60508	0.2274	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46414	-0.9193	9	0.18276	T	0.48	.	3.9262	0.09265	0.0809:0.3565:0.3247:0.238	.	341	Q9H228	S1PR5_HUMAN	G	341	ENSP00000416915:A341G;ENSP00000328472:A341G	ENSP00000328472:A341G	A	-	2	0	S1PR5	10485666	0.985000	0.35326	0.000000	0.03702	0.026000	0.11368	1.192000	0.32150	-0.447000	0.07138	0.491000	0.48974	GCG		0.746	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		5	3	0	0	0	0.000602	0	5	3				
TSPAN16	26526	broad.mit.edu	37	19	11411906	11411906	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:11411906C>A	ENST00000316737.1	+	4	522	c.372C>A	c.(370-372)ttC>ttA	p.F124L	TSPAN16_ENST00000590327.1_Missense_Mutation_p.F124L|TSPAN16_ENST00000592955.1_Missense_Mutation_p.F99L|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	124						integral component of membrane (GO:0016021)		p.F124L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AACACACCTTCGTGACCCTGA	0.483																																							uc002mqv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(370-372)TTC>TTA		transmembrane 4 superfamily member 16							157.0	129.0	138.0					19																	11411906		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11411906C>A	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.372C>A	19.37:g.11411906C>A	ENSP00000319486:p.Phe124Leu					TSPAN16_uc002mqu.1_RNA|uc002mqw.1_RNA	p.F124L	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			4	522	+			124			Cytoplasmic (Potential).		K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.372C>A	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	C	1.424	-0.572209	0.03882	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	T;T	0.76060	-0.99;-0.99	3.62	-7.24	0.01475	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.59169	0.2174	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.39961	-0.9588	9	0.18276	T	0.48	-5.5559	8.8482	0.35184	0.0:0.1687:0.5708:0.2605	.	124	Q9UKR8	TSN16_HUMAN	L	124	ENSP00000319486:F124L;ENSP00000338759:F124L	ENSP00000319486:F124L	F	+	3	2	TSPAN16	11272906	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-2.542000	0.00935	-1.919000	0.01071	0.561000	0.74099	TTC		0.483	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		9	21	1	0	0.000442599	0.006214	0.000568128	9	21				
ZNF440	126070	broad.mit.edu	37	19	11943196	11943196	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:11943196G>T	ENST00000304060.5	+	4	1369	c.1205G>T	c.(1204-1206)gGg>gTg	p.G402V		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	402					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.G402V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGCAATGTGGGAAAGCCTTC	0.458																																							uc002msp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1204-1206)GGG>GTG		zinc finger protein 440							91.0	89.0	89.0					19																	11943196		2203	4299	6502	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943196G>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1205G>T	19.37:g.11943196G>T	ENSP00000305373:p.Gly402Val						p.G402V	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1361	+			402			C2H2-type 10.		Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1205G>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	12.56	1.974254	0.34848	.	.	ENSG00000171295	ENST00000304060	T	0.01495	4.83	1.19	0.103	0.14526	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	M	0.90595	3.13	0.47009	D	0.999281	D	0.76494	0.999	D	0.68039	0.955	T	0.02093	-1.1215	9	0.87932	D	0	.	6.4774	0.22043	0.1851:0.0:0.8149:0.0	.	402	Q8IYI8	ZN440_HUMAN	V	402	ENSP00000305373:G402V	ENSP00000305373:G402V	G	+	2	0	ZNF440	11804196	0.968000	0.33430	0.000000	0.03702	0.023000	0.10783	1.723000	0.38053	0.079000	0.16929	0.205000	0.17691	GGG		0.458	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		16	52	1	0	2.72e-22	0.006122	5.40196e-22	16	52				
ILVBL	10994	broad.mit.edu	37	19	15233752	15233752	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:15233752A>T	ENST00000263383.3	-	5	694	c.555T>A	c.(553-555)atT>atA	p.I185I	ILVBL_ENST00000534378.1_Silent_p.I78I|ILVBL_ENST00000531635.1_5'UTR|AC003956.1_ENST00000598450.1_RNA	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	185						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.I185I(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGGTGGGCACAATGTCCCGCA	0.647																																							uc002nam.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(553-555)ATT>ATA		ilvB (bacterial acetolactate synthase)-like							64.0	66.0	65.0					19																	15233752		2203	4300	6503	SO:0001819	synonymous_variant	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15233752A>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.555T>A	19.37:g.15233752A>T						ILVBL_uc010dzw.2_Silent_p.I78I|ILVBL_uc010dzx.1_Silent_p.I185I	p.I185I	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN			5	676	-			185					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	c.555T>A	CCDS12325.1																																																																																				0.647	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		5	60	0	0	0	0.00308	0	5	60				
NOTCH3	4854	broad.mit.edu	37	19	15273348	15273348	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:15273348C>A	ENST00000263388.2	-	32	5916	c.5841G>T	c.(5839-5841)gcG>gcT	p.A1947A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1947					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A1947A(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGTTCACAGCCGCAGCCCAGT	0.577																																							uc002nan.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(5839-5841)GCG>GCT		Notch homolog 3 precursor							72.0	59.0	63.0					19																	15273348		2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15273348C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5841G>T	19.37:g.15273348C>A							p.A1947A	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		32	5917	-			1947			Cytoplasmic (Potential).|ANK 4.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.5841G>T	CCDS12326.1																																																																																				0.577	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	21	1	0	0.004672	0.004672	0.00544907	3	21				
NOTCH3	4854	broad.mit.edu	37	19	15298035	15298035	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:15298035T>C	ENST00000263388.2	-	11	1796	c.1721A>G	c.(1720-1722)tAc>tGc	p.Y574C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	574	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Y574C(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGTGCCCGTGTAGCCAGGAGC	0.642																																							uc002nan.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21	GRCh37	HM0685	NOTCH3	M		c.(1720-1722)TAC>TGC		Notch homolog 3 precursor							58.0	51.0	53.0					19																	15298035		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15298035T>C	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1721A>G	19.37:g.15298035T>C	ENSP00000263388:p.Tyr574Cys					NOTCH3_uc002nao.1_Missense_Mutation_p.Y574C	p.Y574C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		11	1797	-			574			Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1721A>G	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314446	0.81358	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.89196	-2.48	4.51	4.51	0.55191	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.96436	0.8837	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97523	1.0074	9	0.87932	D	0	.	13.1131	0.59285	0.0:0.0:0.0:1.0	.	577;574	Q59FL3;Q9UM47	.;NOTC3_HUMAN	C	574;576	ENSP00000263388:Y574C	ENSP00000263388:Y574C	Y	-	2	0	NOTCH3	15159035	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	3.347000	0.52200	1.798000	0.52647	0.533000	0.62120	TAC		0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	29	0	0	0	0.004672	0	3	29				
CYP4F12	66002	broad.mit.edu	37	19	15807280	15807280	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:15807280G>T	ENST00000550308.1	+	12	1735	c.1355G>T	c.(1354-1356)gGg>gTg	p.G452V	CYP4F12_ENST00000324632.10_Missense_Mutation_p.G452V	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	452					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.G452V(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)	AACAGCAAGGGGAGGTCACCT	0.547																																							uc002nbl.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1354-1356)GGG>GTG		cytochrome P450, family 4, subfamily F,							128.0	121.0	123.0					19																	15807280		2202	4300	6502	SO:0001583	missense	66002							g.chr19:15807280G>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.1355G>T	19.37:g.15807280G>T	ENSP00000448998:p.Gly452Val						p.G452V	NM_023944	NP_076433					12	1416	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1355G>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	0.619	-0.821924	0.02755	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.68765	-0.35;-0.35	2.31	-1.3	0.09259	.	1.017170	0.07898	U	0.972125	T	0.62490	0.2432	M	0.62266	1.93	0.22142	N	0.999334	B	0.22800	0.075	B	0.34779	0.189	T	0.56238	-0.8012	10	0.41790	T	0.15	.	3.7993	0.08751	0.5584:0.1897:0.2519:0.0	.	452	Q9HCS2	CP4FC_HUMAN	V	452	ENSP00000448998:G452V;ENSP00000321821:G452V	ENSP00000321821:G452V	G	+	2	0	CYP4F12	15668280	0.000000	0.05858	0.013000	0.15412	0.197000	0.23852	0.417000	0.21214	-0.461000	0.06993	-0.959000	0.02639	GGG		0.547	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			14	119	1	0	7.93312e-07	0.00245	1.24304e-06	14	119				
USHBP1	83878	broad.mit.edu	37	19	17366264	17366264	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:17366264C>T	ENST00000252597.3	-	10	1795	c.1622G>A	c.(1621-1623)gGt>gAt	p.G541D	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.G477D	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.G541D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GTTTGCCCCACCAGCCTGGAG	0.682																																							uc002nfs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1621-1623)GGT>GAT		Usher syndrome 1C binding protein 1							61.0	64.0	63.0					19																	17366264		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17366264C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1622G>A	19.37:g.17366264C>T	ENSP00000252597:p.Gly541Asp					USHBP1_uc002nfr.1_Missense_Mutation_p.G167D|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.G477D	p.G541D	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			10	1735	-			541						Missense_Mutation	SNP	ENST00000252597.3	37	c.1622G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	0.591	-0.833030	0.02713	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.17528	2.28;2.27	3.3	0.775	0.18527	.	0.463760	0.20837	N	0.084775	T	0.11196	0.0273	L	0.39898	1.24	0.09310	N	0.999991	B;B	0.18863	0.003;0.031	B;B	0.14578	0.003;0.011	T	0.34329	-0.9833	10	0.13108	T	0.6	-2.893	8.596	0.33716	0.0:0.528:0.472:0.0	.	477;541	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	D	541;477	ENSP00000252597:G541D;ENSP00000407902:G477D	ENSP00000252597:G541D	G	-	2	0	USHBP1	17227264	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.102000	0.15272	0.655000	0.30866	-0.175000	0.13238	GGT		0.682	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		7	73	0	0	0	0.001984	0	7	73				
JAK3	3718	broad.mit.edu	37	19	17949121	17949121	+	Missense_Mutation	SNP	T	T	C	rs140690573		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:17949121T>C	ENST00000527670.1	-	10	1549	c.1520A>G	c.(1519-1521)cAg>cGg	p.Q507R	JAK3_ENST00000534444.1_Missense_Mutation_p.Q507R|JAK3_ENST00000458235.1_Missense_Mutation_p.Q507R|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	507					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Q507R(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CTGACTCAGCTGGTATTGGGA	0.547		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																		uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(1519-1521)CAG>CGG		Janus kinase 3		T	ARG/GLN	1,4405	2.1+/-5.4	0,1,2202	235.0	218.0	223.0		1520	3.6	0.9	19	dbSNP_134	223	1,8599		0,1,4299	no	missense	JAK3	NM_000215.3	43	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign	507/1125	17949121	2,13004	2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17949121T>C	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1520A>G	19.37:g.17949121T>C	ENSP00000432511:p.Gln507Arg					JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.Q507R|JAK3_uc010xpx.1_3'UTR	p.Q507R	NM_000215	NP_000206	P52333	JAK3_HUMAN			11	1620	-			507					Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1520A>G	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.832317	0.32421	2.27E-4	1.16E-4	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.75367	-0.92;-0.92;-0.93	4.65	3.6	0.41247	Protein kinase-like domain (1);	0.282057	0.33753	N	0.004590	T	0.67249	0.2873	L	0.50333	1.59	0.26954	N	0.965966	B;B	0.25667	0.13;0.131	B;B	0.29077	0.098;0.035	T	0.58730	-0.7585	10	0.41790	T	0.15	-8.7049	9.332	0.38027	0.0:0.0:0.1898:0.8102	.	507;507	P52333-2;P52333	.;JAK3_HUMAN	R	507	ENSP00000391676:Q507R;ENSP00000432511:Q507R;ENSP00000436421:Q507R	ENSP00000413248:Q507R	Q	-	2	0	JAK3	17810121	0.828000	0.29307	0.858000	0.33744	0.662000	0.39071	1.663000	0.37429	0.623000	0.30267	0.260000	0.18958	CAG		0.547	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		21	129	0	0	0	0.002299	0	21	129				
PIK3R2	5296	broad.mit.edu	37	19	18273927	18273927	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:18273927G>C	ENST00000593731.1	+	10	1820	c.1260G>C	c.(1258-1260)cgG>cgC	p.R420R	PIK3R2_ENST00000222254.8_Silent_p.R420R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	420	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.R420R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	TGGACACACGGCTCCTCTACC	0.597																																							uc002nia.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1258-1260)CGG>CGC		phosphoinositide-3-kinase, regulatory subunit 2							97.0	78.0	85.0					19																	18273927		2203	4300	6503	SO:0001819	synonymous_variant	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18273927G>C		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1260G>C	19.37:g.18273927G>C						PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.R420R	NM_005027	NP_005018	O00459	P85B_HUMAN			10	1772	+			420			SH2 1.		Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	37	c.1260G>C	CCDS12371.1																																																																																				0.597	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		9	27	0	0	0	0.008291	0	9	27				
KIAA1683	80726	broad.mit.edu	37	19	18368671	18368671	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:18368671C>A	ENST00000600328.3	-	4	3055	c.2862G>T	c.(2860-2862)atG>atT	p.M954I	PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.M1141I|KIAA1683_ENST00000600359.3_Missense_Mutation_p.M908I|PDE4C_ENST00000596647.1_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	954	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.M1141I(1)|p.M954I(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGGATGACCATGGCCCCCC	0.667																																							uc002nin.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2860-2862)ATG>ATT		KIAA1683 isoform b							39.0	41.0	41.0					19																	18368671		2199	4280	6479	SO:0001583	missense	80726					mitochondrion		g.chr19:18368671C>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2862G>T	19.37:g.18368671C>A	ENSP00000470780:p.Met954Ile					PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.M1141I|KIAA1683_uc010xqe.1_Missense_Mutation_p.M908I|KIAA1683_uc010xqf.1_RNA	p.M954I	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			4	3078	-			954			IQ 2.|IQ 3.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.2862G>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	4.141	0.024466	0.08054	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.17213	2.29;2.29;2.29	4.33	2.08	0.27032	.	0.877492	0.09242	N	0.829064	T	0.03477	0.0100	N	0.00186	-1.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.34800	-0.9814	10	0.02654	T	1	-7.0259	10.506	0.44834	0.0:0.4078:0.5922:0.0	.	1141;954	E9PDE0;Q9H0B3	.;K1683_HUMAN	I	1141;954;908;218;568	ENSP00000376213:M1141I;ENSP00000352774:M954I;ENSP00000404501:M908I	ENSP00000352774:M954I	M	-	3	0	KIAA1683	18229671	0.008000	0.16893	0.004000	0.12327	0.031000	0.12232	1.196000	0.32198	0.265000	0.21872	0.313000	0.20887	ATG		0.667	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			10	63	1	0	7.03913e-09	0.001368	1.21342e-08	10	63				
GATAD2A	54815	broad.mit.edu	37	19	19606889	19606889	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:19606889G>C	ENST00000360315.3	+	7	1097	c.785G>C	c.(784-786)aGc>aCc	p.S262T	GATAD2A_ENST00000252577.5_Missense_Mutation_p.S262T|GATAD2A_ENST00000404158.1_Missense_Mutation_p.S262T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.S262T|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000429563.2_Missense_Mutation_p.S89T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	262					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S262T(1)|p.S119T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CAACATTCCAGCACAGGGCCA	0.617																																							uc010xqt.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(784-786)AGC>ACC		GATA zinc finger domain containing 2A							72.0	60.0	64.0					19																	19606889		2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19606889G>C	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.785G>C	19.37:g.19606889G>C	ENSP00000353463:p.Ser262Thr					GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqv.1_Missense_Mutation_p.S281T|GATAD2A_uc010xqw.1_Missense_Mutation_p.S89T	p.S262T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			7	1097	+			262					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.785G>C	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402604	0.62288	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.47177	1.45;1.46;1.45;0.85	5.33	3.09	0.35607	.	0.191453	0.56097	D	0.000030	T	0.36663	0.0975	L	0.44542	1.39	0.80722	D	1	P;P;P	0.48640	0.611;0.913;0.85	B;B;B	0.35550	0.145;0.205;0.205	T	0.20638	-1.0269	10	0.40728	T	0.16	-28.5049	15.5261	0.75910	0.0:0.1846:0.8154:0.0	.	89;281;262	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	262;262;281;262;89	ENSP00000353463:S262T;ENSP00000252577:S262T;ENSP00000351552:S262T;ENSP00000388416:S89T	ENSP00000252577:S262T	S	+	2	0	GATAD2A	19467889	1.000000	0.71417	0.944000	0.38274	0.978000	0.69477	5.915000	0.69973	0.557000	0.29117	0.655000	0.94253	AGC		0.617	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		8	32	0	0	0	0.004482	0	8	32				
ZNF93	81931	broad.mit.edu	37	19	20027413	20027413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:20027413G>T	ENST00000343769.5	+	3	203	c.175G>T	c.(175-177)Gga>Tga	p.G59*	AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Nonsense_Mutation_p.G59*|ZNF93_ENST00000591366.1_Nonsense_Mutation_p.G59*	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	59	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G59*(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TCTGGAGCAAGGAAAAAAACC	0.408																																							uc002non.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(175-177)GGA>TGA		zinc finger protein 93							103.0	106.0	105.0					19																	20027413		2203	4300	6503	SO:0001587	stop_gained	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20027413G>T	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.175G>T	19.37:g.20027413G>T	ENSP00000342002:p.Gly59*					ZNF93_uc002nom.2_Nonsense_Mutation_p.G59*	p.G59*	NM_031218	NP_112495	P35789	ZNF93_HUMAN			3	286	+			59			KRAB.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Nonsense_Mutation	SNP	ENST00000343769.5	37	c.175G>T	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	17.13	3.309985	0.60414	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	.	.	.	0.85	0.85	0.18980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.7959	0.13272	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	ENSP00000342002:G59X	G	+	1	0	ZNF93	19888413	0.006000	0.16342	0.131000	0.22000	0.131000	0.20780	-0.182000	0.09726	0.192000	0.20272	0.195000	0.17529	GGA		0.408	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		10	68	1	0	0.000442599	0.006214	0.000568128	10	68				
CTC-260E6.6	0	broad.mit.edu	37	19	20370053	20370053	+	RNA	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:20370053T>C	ENST00000593655.1	-	0	199																											CGGAAAAACTTCCTAAATTTA	0.418																																							uc002nov.2		NA																	0					0						c.(844-846)CTT>CTC		SubName: Full=cDNA FLJ51655, highly similar to Actin-like protein 2;																																						284441							g.chr19:20370053T>C																													19.37:g.20370053T>C							p.L282L	NR_003128						1	1597	+									Silent	SNP	ENST00000593655.1	37	c.846T>C																																																																																					0.418	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			3	31	0	0	0	0.004672	0	3	31				
ZNF85	7639	broad.mit.edu	37	19	21131981	21131981	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:21131981A>T	ENST00000328178.8	+	4	774	c.661A>T	c.(661-663)Aag>Tag	p.K221*	ZNF85_ENST00000345030.6_Nonsense_Mutation_p.K188*|ZNF85_ENST00000601023.1_Nonsense_Mutation_p.K162*	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	221					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)|transcription corepressor activity (GO:0003714)	p.K221*(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TACTAAACATAAGAGAATTCA	0.348																																							uc002npg.3		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(661-663)AAG>TAG		zinc finger protein 85							33.0	36.0	35.0					19																	21131981		2192	4290	6482	SO:0001587	stop_gained	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131981A>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.661A>T	19.37:g.21131981A>T	ENSP00000329793:p.Lys221*					ZNF85_uc010ecn.2_Nonsense_Mutation_p.K156*|ZNF85_uc010eco.2_Nonsense_Mutation_p.K169*|ZNF85_uc002npi.2_Nonsense_Mutation_p.K162*	p.K221*	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	788	+			221			C2H2-type 3.		B9ZVP4|Q6NVI0	Nonsense_Mutation	SNP	ENST00000328178.8	37	c.661A>T	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	15.55	2.867110	0.51588	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	.	.	.	1.34	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4461	0.11598	0.7935:0.0:0.2065:0.0	.	.	.	.	X	221;188;96	.	ENSP00000329793:K221X	K	+	1	0	ZNF85	20923821	0.000000	0.05858	0.276000	0.24689	0.317000	0.28152	-2.325000	0.01115	0.565000	0.29255	0.374000	0.22700	AAG		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		8	34	0	0	0	0.004482	0	8	34				
ZNF493	284443	broad.mit.edu	37	19	21607572	21607572	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:21607572A>T	ENST00000355504.4	+	2	1993	c.1727A>T	c.(1726-1728)aAg>aTg	p.K576M	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.K704M	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K576M(1)|p.K704M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATACGCATAAGATAATTCAT	0.333																																							uc002npx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1726-1728)AAG>ATG		zinc finger protein 493 isoform 1							32.0	35.0	34.0					19																	21607572		2201	4299	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607572A>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1727A>T	19.37:g.21607572A>T	ENSP00000347691:p.Lys576Met					ZNF493_uc002npw.2_Missense_Mutation_p.K704M|ZNF493_uc002npy.2_Missense_Mutation_p.K576M	p.K576M	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	2007	+			576			C2H2-type 20.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1727A>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	10.93	1.490256	0.26686	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.16073	2.37;2.37	1.02	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	N	0.04373	-0.215	0.42061	D	0.991168	D;D	0.58620	0.982;0.983	P;P	0.59889	0.826;0.865	T	0.32851	-0.9891	9	0.51188	T	0.08	.	5.6705	0.17719	0.7231:0.2769:0.0:0.0	.	576;704	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	M	704;576	ENSP00000376110:K704M;ENSP00000347691:K576M	ENSP00000347691:K576M	K	+	2	0	ZNF493	21399412	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.026000	0.12392	-0.648000	0.05437	-0.679000	0.03777	AAG		0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		4	27	0	0	0	0.000248	0	4	27				
ZNF208	7757	broad.mit.edu	37	19	22155210	22155210	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:22155210G>T	ENST00000397126.4	-	4	2774	c.2626C>A	c.(2626-2628)Ctt>Att	p.L876I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	876					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L776I(2)|p.L876I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGATAACTAAGGGTTGAGGGC	0.363																																							uc002nqp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2326-2328)CTT>ATT		zinc finger protein 208							44.0	46.0	45.0					19																	22155210		2050	4220	6270	SO:0001583	missense	7757							g.chr19:22155210G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2626C>A	19.37:g.22155210G>T	ENSP00000380315:p.Leu876Ile					ZNF208_uc002nqo.1_Intron	p.L776I	NM_007153	NP_009084					5	2475	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2326C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979957	0.18812	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.53857	0.6	2.58	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64832	0.2634	.	.	.	0.09310	N	1	P	0.46395	0.877	D	0.66716	0.946	T	0.52990	-0.8501	8	0.87932	D	0	.	4.9109	0.13821	0.3232:0.0:0.6768:0.0	.	776	O43345	ZN208_HUMAN	I	876;776	ENSP00000380315:L876I	ENSP00000380315:L876I	L	-	1	0	ZNF208	21947050	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.375000	0.07475	0.115000	0.18071	0.289000	0.19496	CTT		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		9	62	1	0	7.48243e-07	0.006214	1.17892e-06	9	62				
ZNF208	7757	broad.mit.edu	37	19	22157345	22157345	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:22157345T>C	ENST00000397126.4	-	4	639	c.491A>G	c.(490-492)aAg>aGg	p.K164R	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K164R(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGCCTTATCTTATGTCTGTT	0.313																																							uc002nqp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(490-492)AAG>AGG		zinc finger protein 208							112.0	109.0	110.0					19																	22157345		2033	4224	6257	SO:0001583	missense	7757							g.chr19:22157345T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.491A>G	19.37:g.22157345T>C	ENSP00000380315:p.Lys164Arg					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.K164R	NM_007153	NP_009084					4	640	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.491A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	6.947	0.544644	0.13312	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.15017	2.46	1.41	0.14	0.14804	.	.	.	.	.	T	0.29749	0.0743	.	.	.	0.09310	N	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.11817	-1.0572	8	0.40728	T	0.16	.	4.3447	0.11127	0.297:0.0:0.0:0.703	.	164	O43345	ZN208_HUMAN	R	164	ENSP00000380315:K164R	ENSP00000380315:K164R	K	-	2	0	ZNF208	21949185	0.020000	0.18652	0.004000	0.12327	0.701000	0.40568	-0.041000	0.12084	-0.192000	0.10432	0.240000	0.17902	AAG		0.313	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		7	82	0	0	0	0.001984	0	7	82				
ZNF492	57615	broad.mit.edu	37	19	22847741	22847741	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:22847741G>A	ENST00000456783.2	+	4	1514	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	424					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.E424K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTACAAATGTGAAGAATGTGG	0.378																																							uc002nqw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1270-1272)GAA>AAA		zinc finger protein 492							30.0	30.0	30.0					19																	22847741		1675	3606	5281	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847741G>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1270G>A	19.37:g.22847741G>A	ENSP00000413660:p.Glu424Lys						p.E424K	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1514	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	424			C2H2-type 11.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1270G>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	8.264	0.811819	0.16537	.	.	ENSG00000229676	ENST00000456783	T	0.16597	2.33	1.12	-0.302	0.12796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	N	0.10916	0.065	0.09310	N	1	B	0.22541	0.071	B	0.29785	0.107	T	0.41270	-0.9518	9	0.24483	T	0.36	.	1.3867	0.02242	0.3425:0.0:0.312:0.3455	.	424	Q9P255	ZN492_HUMAN	K	424	ENSP00000413660:E424K	ENSP00000413660:E424K	E	+	1	0	ZNF492	22639581	0.000000	0.05858	0.209000	0.23619	0.209000	0.24338	-3.063000	0.00622	0.269000	0.21961	0.274000	0.19336	GAA		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		11	64	0	0	0	0.001855	0	11	64				
ZNF536	9745	broad.mit.edu	37	19	30935931	30935931	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:30935931C>A	ENST00000355537.3	+	2	1609	c.1462C>A	c.(1462-1464)Ctc>Atc	p.L488I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	488					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.L488I(1)|p.S487>?(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)					CAAGCACTCCCTCCTGGGATG	0.652																																							uc002nsu.1		NA																	2	Substitution - Missense(1)|Complex(1)		lung(2)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1462-1464)CTC>ATC		zinc finger protein 536							35.0	38.0	37.0					19																	30935931		2203	4299	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935931C>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.1462C>A	19.37:g.30935931C>A	ENSP00000347730:p.Leu488Ile					ZNF536_uc010edd.1_Missense_Mutation_p.L488I	p.L488I	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1600	+	Esophageal squamous(110;0.0834)		488					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1462C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.694	0.908071	0.17833	.	.	ENSG00000198597	ENST00000355537	T	0.13657	2.57	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	N	0.21448	0.665	0.39138	D	0.961983	B;B	0.20887	0.049;0.049	B;B	0.20577	0.03;0.03	T	0.28554	-1.0040	10	0.29301	T	0.29	-32.9052	5.7421	0.18100	0.1897:0.6935:0.0:0.1168	.	488;488	A7E228;O15090	.;ZN536_HUMAN	I	488	ENSP00000347730:L488I	ENSP00000347730:L488I	L	+	1	0	ZNF536	35627771	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.141000	0.50593	2.582000	0.87167	0.655000	0.94253	CTC		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	54	1	0	1.58986e-06	0.008291	2.46733e-06	7	54				
TSHZ3	57616	broad.mit.edu	37	19	31769270	31769270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:31769270C>A	ENST00000240587.4	-	2	1756	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	477					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E477*(1)|p.E294*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACCGCTTTCTCCTTGTCGACT	0.507																																							uc002nsy.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1429-1431)GAG>TAG		zinc finger protein 537							178.0	179.0	179.0					19																	31769270		2203	4300	6503	SO:0001587	stop_gained	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769270C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1429G>T	19.37:g.31769270C>A	ENSP00000240587:p.Glu477*						p.E477*	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1494	-	Esophageal squamous(110;0.226)		477					Q9H0G6|Q9P254	Nonsense_Mutation	SNP	ENST00000240587.4	37	c.1429G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	39	7.327230	0.98214	.	.	ENSG00000121297	ENST00000240587	.	.	.	5.55	5.55	0.83447	.	0.431013	0.25994	N	0.026995	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-12.4515	19.5283	0.95215	0.0:1.0:0.0:0.0	.	.	.	.	X	477	.	ENSP00000240587:E477X	E	-	1	0	TSHZ3	36461110	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	7.461000	0.80834	2.596000	0.87737	0.655000	0.94253	GAG		0.507	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		32	205	1	0	1.56442e-22	0.002445	3.1124e-22	32	205				
FFAR2	2867	broad.mit.edu	37	19	35941483	35941483	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:35941483G>T	ENST00000599180.2	+	2	947	c.867G>T	c.(865-867)caG>caT	p.Q289H	FFAR2_ENST00000246549.2_Missense_Mutation_p.Q289H|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	289					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.Q289H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GAGGGCTGCAGGTGCTGCGGA	0.577																																					GBM(40;139 809 9833 23358 48736)	GBM(40;139 809 9833 23358 48736)	uc002nzg.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(865-867)CAG>CAT		free fatty acid receptor 2							93.0	92.0	92.0					19																	35941483		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941483G>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.867G>T	19.37:g.35941483G>T	ENSP00000473159:p.Gln289His					FFAR2_uc010eea.2_Missense_Mutation_p.Q289H	p.Q289H	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	947	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		289			Cytoplasmic (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.867G>T	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564635	0.45694	.	.	ENSG00000126262	ENST00000246549	T	0.37235	1.21	5.38	3.1	0.35709	.	0.980519	0.08307	N	0.965930	T	0.30634	0.0771	L	0.44542	1.39	0.22292	N	0.999224	P	0.38642	0.641	B	0.38500	0.275	T	0.13361	-1.0512	10	0.22109	T	0.4	-10.286	8.1497	0.31132	0.091:0.1606:0.7484:0.0	.	289	O15552	FFAR2_HUMAN	H	289	ENSP00000246549:Q289H	ENSP00000246549:Q289H	Q	+	3	2	FFAR2	40633323	0.000000	0.05858	0.487000	0.27428	0.030000	0.12068	0.345000	0.19979	1.373000	0.46208	0.563000	0.77884	CAG		0.577	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		16	82	1	0	2.31682e-05	0.003163	3.32732e-05	16	82				
KMT2B	9757	broad.mit.edu	37	19	36212499	36212499	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36212499C>T	ENST00000222270.7	+	3	2250	c.2250C>T	c.(2248-2250)ccC>ccT	p.P750P	KMT2B_ENST00000420124.1_Silent_p.P750P|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	750	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P750P(1)									AGCTCCTGCCCCAGGCACTAC	0.667																																							uc010eei.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(2248-2250)CCC>CCT		myeloid/lymphoid or mixed-lineage leukemia 4							26.0	39.0	35.0					19																	36212499		2140	4271	6411	SO:0001819	synonymous_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36212499C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2250C>T	19.37:g.36212499C>T							p.P750P	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	2250	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		750			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.2250C>T	CCDS46055.1																																																																																				0.667	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		9	26	0	0	0	0.006214	0	9	26				
KMT2B	9757	broad.mit.edu	37	19	36227603	36227603	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36227603G>T	ENST00000222270.7	+	31	7172	c.7172G>T	c.(7171-7173)aGc>aTc	p.S2391I	KMT2B_ENST00000420124.1_Missense_Mutation_p.S2391I|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2391					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S2393I(1)									GAGGCTTCGAGCTCTGAGGAA	0.582																																							uc010eei.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(7171-7173)AGC>ATC		myeloid/lymphoid or mixed-lineage leukemia 4							49.0	53.0	51.0					19																	36227603		1992	4156	6148	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36227603G>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7172G>T	19.37:g.36227603G>T	ENSP00000222270:p.Ser2391Ile						p.S2391I	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		32	7172	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		2391					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.7172G>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545407	0.45280	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84442	-1.85;-1.85	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000097	D	0.85600	0.5734	L	0.48642	1.525	0.34544	D	0.710581	D	0.67145	0.996	P	0.53649	0.731	D	0.88209	0.2889	10	0.38643	T	0.18	.	12.2807	0.54762	0.0785:0.0:0.9215:0.0	.	2391	Q9UMN6	MLL4_HUMAN	I	2391	ENSP00000222270:S2391I;ENSP00000398837:S2391I	ENSP00000222270:S2391I	S	+	2	0	AD000671.1	40919443	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.795000	0.55499	2.755000	0.94549	0.655000	0.94253	AGC		0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		5	19	1	0	0.000602214	0.000602	0.000754262	5	19				
NPHS1	4868	broad.mit.edu	37	19	36340177	36340177	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36340177G>T	ENST00000378910.5	-	7	800	c.801C>A	c.(799-801)gcC>gcA	p.A267A	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Silent_p.A267A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	267	Ig-like C2-type 3.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.A267A(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACCCCCTCGGGCCACGCACG	0.662																																							uc002oby.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(799-801)GCC>GCA		nephrin precursor							29.0	27.0	28.0					19																	36340177		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340177G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.801C>A	19.37:g.36340177G>T							p.A267A	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	801	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		267			Ig-like C2-type 3.|Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.801C>A	CCDS32996.1																																																																																				0.662	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	37	1	0	0.000602214	0.000602	0.000754262	5	37				
KIRREL2	84063	broad.mit.edu	37	19	36349667	36349667	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36349667T>A	ENST00000360202.5	+	4	621	c.423T>A	c.(421-423)ccT>ccA	p.P141P	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.P141P|KIRREL2_ENST00000262625.7_Silent_p.P141P|KIRREL2_ENST00000347900.6_Silent_p.P91P	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	141	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.P141P(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGAGTTCCTGCGAACCTGA	0.617																																							uc002ocb.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(421-423)CCT>CCA		kin of IRRE-like 2 isoform c							83.0	86.0	85.0					19																	36349667		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36349667T>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.423T>A	19.37:g.36349667T>A						KIRREL2_uc002obz.3_Silent_p.P141P|KIRREL2_uc002oca.3_Silent_p.P91P|KIRREL2_uc002occ.3_Silent_p.P88P|KIRREL2_uc002ocd.3_Silent_p.P138P	p.P141P	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	635	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		141			Ig-like C2-type 2.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.423T>A	CCDS12481.1																																																																																				0.617	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		16	74	0	0	0	0.00499	0	16	74				
APLP1	333	broad.mit.edu	37	19	36369812	36369812	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36369812G>T	ENST00000221891.4	+	15	1863	c.1671G>T	c.(1669-1671)agG>agT	p.R557S	APLP1_ENST00000537454.2_Missense_Mutation_p.R517S|APLP1_ENST00000586861.1_Missense_Mutation_p.R550S|RN7SL402P_ENST00000465059.1_RNA	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	556					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.R557S(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTTCCAAGGGGTTTCCCTT	0.602																																							uc002oce.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1666-1668)AGG>AGT		amyloid precursor-like protein 1 isoform 2							80.0	80.0	80.0					19																	36369812		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36369812G>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1671G>T	19.37:g.36369812G>T	ENSP00000221891:p.Arg557Ser					APLP1_uc010xsz.1_Missense_Mutation_p.R517S|APLP1_uc002ocf.2_Missense_Mutation_p.R557S|APLP1_uc002ocg.2_Missense_Mutation_p.R460S|APLP1_uc010xta.1_Missense_Mutation_p.R550S	p.R556S	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	1806	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		556			Extracellular (Potential).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1668G>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478642	0.44044	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94613	-3.32;-3.47	5.32	4.27	0.50696	.	0.180424	0.26539	N	0.023801	D	0.91895	0.7434	N	0.24115	0.695	0.37341	D	0.910393	D;P;P;P	0.63880	0.993;0.874;0.952;0.9	P;P;P;B	0.55923	0.787;0.465;0.547;0.275	D	0.89867	0.4020	10	0.22109	T	0.4	-19.724	10.4042	0.44248	0.0935:0.0:0.9065:0.0	.	550;517;557;556	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	S	517;557	ENSP00000441501:R517S;ENSP00000221891:R557S	ENSP00000221891:R557S	R	+	3	2	APLP1	41061652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.423000	0.44705	2.489000	0.83994	0.655000	0.94253	AGG		0.602	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		13	62	1	0	1.05317e-09	0.00245	1.86355e-09	13	62				
WDR62	284403	broad.mit.edu	37	19	36558728	36558728	+	Splice_Site	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36558728A>T	ENST00000270301.7	+	7	699		c.e7-1		WDR62_ENST00000401500.2_Splice_Site|WDR62_ENST00000388999.3_Splice_Site|WDR62_ENST00000378860.4_Splice_Site			O43379	WDR62_HUMAN	WD repeat domain 62						cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.?(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)			CTGTGTCTCCAGGTGACGAGC	0.582																																							uc002odc.2		NA																	1	Unknown(1)		lung(1)		0						c.e7-2		WD repeat domain 62 isoform 2							43.0	42.0	43.0					19																	36558728		2203	4300	6503	SO:0001630	splice_region_variant	284403				cerebral cortex development	nucleus		g.chr19:36558728A>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.700-1A>T	19.37:g.36558728A>T						WDR62_uc002odd.2_Splice_Site_p.V234_splice|WDR62_uc002odb.2_Splice_Site_p.V234_splice	p.V234_splice	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		7	791	+	Esophageal squamous(110;0.162)							Q63HP9|Q659D7|Q8NBF7|Q96AD9	Splice_Site	SNP	ENST00000270301.7	37	c.700_splice	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487406	0.63962	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0682	0.64844	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR62	41250568	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	8.904000	0.92590	2.216000	0.71823	0.456000	0.33151	.		0.582	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671	Intron	11	45	0	0	0	0.000978	0	11	45				
ZNF568	374900	broad.mit.edu	37	19	37441368	37441368	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:37441368G>T	ENST00000333987.7	+	7	1819	c.1313G>T	c.(1312-1314)cGa>cTa	p.R438L	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.R374L|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	438					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.R438Q(1)|p.R438L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTACATATGCGAAATCATACA	0.393																																							uc002ofc.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	large_intestine(1)|ovary(1)	2						c.(1312-1314)CGA>CTA		zinc finger protein 568							70.0	78.0	76.0					19																	37441368		2202	4298	6500	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441368G>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1313G>T	19.37:g.37441368G>T	ENSP00000334685:p.Arg438Leu					ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.R362L|ZNF568_uc010efe.2_Missense_Mutation_p.R362L|ZNF568_uc010eff.1_Intron	p.R438L	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	1828	+	Esophageal squamous(110;0.183)		438			C2H2-type 8.		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.1313G>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333966	0.41297	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.25085	1.82;1.82	4.09	4.09	0.47781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37761	N	0.001955	T	0.35158	0.0922	N	0.20685	0.6	0.20074	N	0.999932	D	0.89917	1.0	D	0.87578	0.998	T	0.13737	-1.0498	10	0.87932	D	0	.	14.1758	0.65539	0.0:0.0:1.0:0.0	.	438	Q3ZCX4	ZN568_HUMAN	L	438;374	ENSP00000334685:R438L;ENSP00000394514:R374L	ENSP00000334685:R438L	R	+	2	0	ZNF568	42133208	0.000000	0.05858	0.148000	0.22405	0.800000	0.45204	0.305000	0.19254	2.268000	0.75426	0.563000	0.77884	CGA		0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		12	65	1	0	0.00136819	0.001368	0.00166946	12	65				
ZNF585A	199704	broad.mit.edu	37	19	37643910	37643910	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:37643910T>A	ENST00000356958.4	-	5	1149	c.891A>T	c.(889-891)ccA>ccT	p.P297P	ZNF585A_ENST00000392157.2_Silent_p.P242P|ZNF585A_ENST00000355533.2_Silent_p.P242P|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Silent_p.P242P			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P242P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCACTCATATGGTTTTTCTC	0.428																																							uc002ofo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(889-891)CCA>CCT		zinc finger protein 585A							256.0	234.0	241.0					19																	37643910		2203	4300	6503	SO:0001819	synonymous_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643910T>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.891A>T	19.37:g.37643910T>A						ZNF585A_uc002ofm.1_Silent_p.P242P|ZNF585A_uc002ofn.1_Silent_p.P242P	p.P297P	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1122	-			297					Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37	c.891A>T																																																																																					0.428	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		47	175	0	0	0	0.00361	0	47	175				
ZNF569	148266	broad.mit.edu	37	19	37904988	37904988	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:37904988C>G	ENST00000316950.6	-	6	1129	c.572G>C	c.(571-573)tGt>tCt	p.C191S	ZNF569_ENST00000392150.2_Missense_Mutation_p.C32S|ZNF569_ENST00000392149.2_Missense_Mutation_p.C191S	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C191S(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTTTCCACAATGATTACA	0.383																																							uc002ogi.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(571-573)TGT>TCT		zinc finger protein 569							71.0	71.0	71.0					19																	37904988		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904988C>G	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.572G>C	19.37:g.37904988C>G	ENSP00000325018:p.Cys191Ser					ZNF569_uc002ogh.2_Missense_Mutation_p.C32S|ZNF569_uc002ogj.2_Missense_Mutation_p.C215S	p.C191S	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1130	-			191			C2H2-type 1.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.572G>C	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372793	0.24857	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.59083	0.29;0.29	3.73	3.73	0.42828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.186382	0.26499	N	0.024032	T	0.58133	0.2101	M	0.76727	2.345	0.30942	N	0.725714	B;B	0.18013	0.025;0.025	B;B	0.09377	0.004;0.004	T	0.66064	-0.6016	10	0.72032	D	0.01	.	14.7762	0.69734	0.0:1.0:0.0:0.0	.	32;191	Q17RR6;Q5MCW4	.;ZN569_HUMAN	S	191;32	ENSP00000325018:C191S;ENSP00000375993:C32S	ENSP00000325018:C191S	C	-	2	0	ZNF569	42596828	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.324000	0.65863	2.083000	0.62718	0.591000	0.81541	TGT		0.383	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		10	52	0	0	0	0.008291	0	10	52				
RASGRP4	115727	broad.mit.edu	37	19	38910858	38910858	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:38910858T>A	ENST00000587738.1	-	5	492	c.422A>T	c.(421-423)cAg>cTg	p.Q141L	RASGRP4_ENST00000586305.1_Missense_Mutation_p.Q141L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.Q141L|RASGRP4_ENST00000587753.1_Missense_Mutation_p.Q141L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.Q141L|RASGRP4_ENST00000454404.2_Missense_Mutation_p.Q141L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.Q141L			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	141	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.Q141L(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCTTCTAGCTGGGGATCCTG	0.587																																							uc002oir.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|lung(1)|skin(1)	3						c.(421-423)CAG>CTG		RAS guanyl releasing protein 4 isoform a							35.0	41.0	39.0					19																	38910858		1960	4147	6107	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38910858T>A	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.422A>T	19.37:g.38910858T>A	ENSP00000465772:p.Gln141Leu					RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.Q141L|RASGRP4_uc010xub.1_Missense_Mutation_p.Q141L|RASGRP4_uc010xuc.1_Missense_Mutation_p.Q141L|RASGRP4_uc010xud.1_Missense_Mutation_p.Q141L|RASGRP4_uc010xue.1_Missense_Mutation_p.Q141L|RASGRP4_uc010egb.2_Missense_Mutation_p.Q141L	p.Q141L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	636	-	all_cancers(60;4.21e-06)		141			N-terminal Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.422A>T	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575648	0.28092	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	4.34	4.34	0.51931	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.343957	0.27846	N	0.017603	T	0.27313	0.0670	L	0.41236	1.265	0.42558	D	0.993134	B;B;B;B;B;B;B	0.28128	0.001;0.001;0.016;0.201;0.005;0.0;0.201	B;B;B;B;B;B;B	0.21360	0.0;0.0;0.014;0.034;0.014;0.002;0.034	T	0.07462	-1.0771	10	0.28530	T	0.3	-12.2406	11.5078	0.50476	0.0:0.0:0.0:1.0	.	141;141;141;141;141;141;141	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	L	141	ENSP00000411878:Q141L;ENSP00000293062:Q141L;ENSP00000445966:Q141L;ENSP00000416463:Q141L	ENSP00000293062:Q141L	Q	-	2	0	RASGRP4	43602698	0.981000	0.34729	0.928000	0.36995	0.290000	0.27261	1.704000	0.37857	1.825000	0.53177	0.402000	0.26972	CAG		0.587	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		6	13	0	0	0	0.001168	0	6	13				
RYR1	6261	broad.mit.edu	37	19	39009862	39009862	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:39009862C>G	ENST00000359596.3	+	67	10027	c.10027C>G	c.(10027-10029)Cag>Gag	p.Q3343E	RYR1_ENST00000355481.4_Missense_Mutation_p.Q3343E|RYR1_ENST00000360985.3_Missense_Mutation_p.Q3343E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3343					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.Q3343E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGTGTTCGCACAGCCCATTGT	0.642																																							uc002oit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(10027-10029)CAG>GAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						74.0	76.0	75.0					19																	39009862		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39009862C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10027C>G	19.37:g.39009862C>G	ENSP00000352608:p.Gln3343Glu					RYR1_uc002oiu.2_Missense_Mutation_p.Q3343E|RYR1_uc002oiv.1_Missense_Mutation_p.Q263E|RYR1_uc010xuf.1_Missense_Mutation_p.Q263E	p.Q3343E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		67	10157	+	all_cancers(60;7.91e-06)		3343					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10027C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791728	0.31685	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97161	-4.27;-4.27;-4.27	3.54	3.54	0.40534	.	0.000000	0.64402	U	0.000004	D	0.98169	0.9395	M	0.83483	2.645	0.54753	D	0.999982	P;P;P	0.52577	0.954;0.954;0.924	D;D;P	0.67900	0.932;0.954;0.9	D	0.98264	1.0500	10	0.45353	T	0.12	.	14.927	0.70887	0.0:1.0:0.0:0.0	.	3343;3343;3343	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	E	3343;3343;3343;263	ENSP00000352608:Q3343E;ENSP00000347667:Q3343E;ENSP00000354254:Q3343E	ENSP00000347667:Q3343E	Q	+	1	0	RYR1	43701702	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.584000	0.82572	1.831000	0.53308	0.423000	0.28283	CAG		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			24	102	0	0	0	0.002299	0	24	102				
SPTBN4	57731	broad.mit.edu	37	19	40995992	40995992	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:40995992C>A	ENST00000352632.3	+	4	418	c.332C>A	c.(331-333)aCg>aAg	p.T111K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.T111K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.T111K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.T111K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.T111K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	111	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T111K(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCAGGCCCACGCGCGGCCGC	0.672																																							uc002ony.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(331-333)ACG>AAG		spectrin, beta, non-erythrocytic 4 isoform							33.0	29.0	30.0					19																	40995992		2202	4300	6502	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40995992C>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.332C>A	19.37:g.40995992C>A	ENSP00000263373:p.Thr111Lys					SPTBN4_uc002onx.2_Missense_Mutation_p.T111K|SPTBN4_uc002onz.2_Missense_Mutation_p.T111K	p.T111K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		4	418	+			111			CH 1.|Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.332C>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542373	0.85917	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.56275	0.47;0.47;0.47	4.53	4.53	0.55603	Calponin homology domain (5);	0.000000	0.64402	U	0.000015	T	0.56630	0.1998	L	0.35341	1.055	0.80722	D	1	P;B	0.47253	0.892;0.318	P;B	0.53912	0.737;0.326	T	0.62101	-0.6925	10	0.87932	D	0	.	16.1827	0.81921	0.0:1.0:0.0:0.0	.	111;111	Q9H254;Q71S06	SPTN4_HUMAN;.	K	111	ENSP00000263373:T111K;ENSP00000340345:T111K;ENSP00000340741:T111K	ENSP00000340345:T111K	T	+	2	0	SPTBN4	45687832	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.583000	0.82559	2.337000	0.79520	0.397000	0.26171	ACG		0.672	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	12	1	0	0.000602214	0.000602	0.000754262	4	12				
TMEM145	284339	broad.mit.edu	37	19	42824590	42824590	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:42824590G>C	ENST00000301204.3	+	13	1235		c.e13+1		TMEM145_ENST00000598766.1_Splice_Site	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145						G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGTGTTTCTGGTGAGGATGGG	0.592																																							uc002otk.1		NA																	1	Unknown(1)		lung(1)		0						c.e13+1		transmembrane protein 145							85.0	82.0	83.0					19																	42824590		2203	4300	6503	SO:0001630	splice_region_variant	284339					integral to membrane		g.chr19:42824590G>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1194+1G>C	19.37:g.42824590G>C							p.L398_splice	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			13	1246	+		Prostate(69;0.00682)							Splice_Site	SNP	ENST00000301204.3	37	c.1194_splice	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520524	0.27211	.	.	ENSG00000167619	ENST00000301204	.	.	.	3.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7597	0.62959	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM145	47516430	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	7.849000	0.86908	2.379000	0.81126	0.650000	0.86243	.		0.592	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633	Intron	3	72	0	0	0	0.000248	0	3	72				
PSG11	5680	broad.mit.edu	37	19	43523068	43523068	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:43523068G>T	ENST00000401740.1	-	3	666	c.563C>A	c.(562-564)cCt>cAt	p.P188H	PSG11_ENST00000320078.7_Missense_Mutation_p.P188H|PSG11_ENST00000306322.7_Missense_Mutation_p.P66H|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Missense_Mutation_p.P66H			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	188	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P188H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATGAGTCATAGGGAGGCTCTG	0.478																																							uc002ovm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(562-564)CCT>CAT		pregnancy specific beta-1-glycoprotein 11							274.0	280.0	278.0					19																	43523068		2200	4297	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523068G>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.563C>A	19.37:g.43523068G>T	ENSP00000384995:p.Pro188His					PSG11_uc002ouw.2_Missense_Mutation_p.P194H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.P194H|PSG11_uc002ovn.1_Missense_Mutation_p.P194H|PSG11_uc002ovo.1_Missense_Mutation_p.P66H|PSG11_uc002ovp.1_Missense_Mutation_p.P66H	p.P188H	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			3	670	-		Prostate(69;0.00682)	188			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.563C>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	g	10.43	1.348495	0.24426	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	1.13	-0.571	0.11749	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30510	0.0767	M	0.77486	2.375	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.10428	-1.0630	9	0.87932	D	0	.	3.6389	0.08160	0.0:0.0:0.5642:0.4358	.	66;188	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	H	188;66;66;188	ENSP00000319140:P188H;ENSP00000385427:P66H;ENSP00000304913:P66H;ENSP00000384995:P188H	ENSP00000304913:P66H	P	-	2	0	PSG11	48214908	0.001000	0.12720	0.023000	0.16930	0.028000	0.11728	-0.461000	0.06712	0.567000	0.29293	0.184000	0.17185	CCT		0.478	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		53	275	1	0	1.19403e-26	0.00361	2.38807e-26	53	275				
PSG11	5680	broad.mit.edu	37	19	43528960	43528960	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:43528960C>A	ENST00000401740.1	-	2	416	c.313G>T	c.(313-315)Gca>Tca	p.A105S	PSG11_ENST00000320078.7_Missense_Mutation_p.A105S|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	105	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.A105S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AGCAGGGATGCATTGGAATAT	0.438																																							uc002ovh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(331-333)GCA>TCA		SubName: Full=Putative uncharacterized protein PSG6;							195.0	185.0	189.0					19																	43528960		2199	4298	6497	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43528960C>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.313G>T	19.37:g.43528960C>A	ENSP00000384995:p.Ala105Ser					PSG11_uc002ouw.2_Missense_Mutation_p.A111S|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A111S|PSG11_uc002ovm.1_Missense_Mutation_p.A105S|PSG11_uc002ovn.1_Missense_Mutation_p.A111S|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron	p.A111S			Q00889	PSG6_HUMAN			2	420	-		Prostate(69;0.00899)	104			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.331G>T	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	13.30	2.194828	0.38806	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.01516	4.81;4.81	0.929	0.929	0.19449	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08358	0.0208	M	0.82823	2.61	0.18873	N	0.999986	D	0.71674	0.998	D	0.80764	0.994	T	0.13255	-1.0516	9	0.72032	D	0.01	.	5.2086	0.15304	0.0:1.0:0.0:0.0	.	105	Q9UQ72	PSG11_HUMAN	S	105	ENSP00000319140:A105S;ENSP00000384995:A105S	ENSP00000319140:A105S	A	-	1	0	PSG11	48220800	0.022000	0.18835	0.109000	0.21407	0.189000	0.23516	0.607000	0.24209	0.795000	0.33922	0.184000	0.17185	GCA		0.438	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		30	188	1	0	2.40579e-17	0.00623	4.69584e-17	30	188				
PSG2	5670	broad.mit.edu	37	19	43575948	43575948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:43575948G>A	ENST00000406487.1	-	4	966	c.868C>T	c.(868-870)Caa>Taa	p.Q290*		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	290	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Q290*(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)				GTAGTAATTTGGGGGATAAAC	0.458																																							uc002ovr.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(868-870)CAA>TAA		pregnancy specific beta-1-glycoprotein 2							183.0	191.0	188.0					19																	43575948		2202	4298	6500	SO:0001587	stop_gained	5670				cell migration|female pregnancy	extracellular region		g.chr19:43575948G>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.868C>T	19.37:g.43575948G>A	ENSP00000385706:p.Gln290*					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Nonsense_Mutation_p.Q290*|PSG2_uc010eiq.1_Nonsense_Mutation_p.Q290*|PSG2_uc002ovs.3_Nonsense_Mutation_p.Q290*|PSG2_uc002ovt.3_Nonsense_Mutation_p.Q290*	p.Q290*	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	961	-		Prostate(69;0.00682)	290			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Nonsense_Mutation	SNP	ENST00000406487.1	37	c.868C>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.723491	0.30593	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	.	.	.	1.26	-2.53	0.06326	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999997	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	2.3788	0.04348	0.0:0.2243:0.3041:0.4715	.	.	.	.	X	290	.	ENSP00000332984:Q290X	Q	-	1	0	PSG2	48267788	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.664000	0.05292	-1.150000	0.02840	-1.693000	0.00726	CAA		0.458	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		34	164	0	0	0	0.003755	0	34	164				
PSG2	5670	broad.mit.edu	37	19	43579540	43579540	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:43579540G>A	ENST00000406487.1	-	3	773	c.675C>T	c.(673-675)gcC>gcT	p.A225A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	225	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.A225A(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)				CACTGCGGCTGGCACTCCCTG	0.527																																							uc002ovr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(673-675)GCC>GCT		pregnancy specific beta-1-glycoprotein 2							224.0	235.0	231.0					19																	43579540		2202	4298	6500	SO:0001819	synonymous_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579540G>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.675C>T	19.37:g.43579540G>A						PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.A225A|PSG2_uc010eiq.1_Silent_p.A225A|PSG2_uc002ovs.3_Silent_p.A225A|PSG2_uc002ovt.3_Silent_p.A225A	p.A225A	NM_031246	NP_112536	P11465	PSG2_HUMAN			3	768	-		Prostate(69;0.00682)	225			Ig-like C2-type 1.		Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	c.675C>T	CCDS12616.1																																																																																				0.527	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		29	263	0	0	0	0.001786	0	29	263				
PSG4	5672	broad.mit.edu	37	19	43702333	43702333	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:43702333G>T	ENST00000405312.3	-	3	762	c.525C>A	c.(523-525)gcC>gcA	p.A175A	PSG4_ENST00000244295.9_Silent_p.A175A|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	175	Ig-like C2-type 1.			A -> P (in Ref. 1; M32624). {ECO:0000305}.	female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.A175A(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTAGCTTGCGGCTGGAGTCG	0.532																																							uc002ovy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(523-525)GCC>GCA		pregnancy specific beta-1-glycoprotein 4 isoform							163.0	187.0	179.0					19																	43702333		2128	4272	6400	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43702333G>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.525C>A	19.37:g.43702333G>T						PSG6_uc010xwk.1_Silent_p.A14A|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Intron|PSG4_uc002ovz.2_Silent_p.A175A	p.A175A	NM_002780	NP_002771	Q00888	PSG4_HUMAN			3	627	-		Prostate(69;0.00682)	175	A -> P (in Ref. 1; M32624).		Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.525C>A	CCDS46093.1																																																																																				0.532	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		42	188	1	0	9.85913e-13	0.002222	1.86356e-12	42	188				
IRGC	56269	broad.mit.edu	37	19	44223254	44223254	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:44223254C>T	ENST00000244314.5	+	2	743	c.544C>T	c.(544-546)Ccg>Tcg	p.P182S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	182	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.P182S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CACCCAGCGGCCGTCGGGCTT	0.682																																					Colon(189;350 2037 11447 13433 38914)	Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(544-546)CCG>TCG		immunity-related GTPase family, cinema							20.0	22.0	21.0					19																	44223254		2135	4163	6298	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223254C>T	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.544C>T	19.37:g.44223254C>T	ENSP00000244314:p.Pro182Ser						p.P182S	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	691	+		Prostate(69;0.0435)	182					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.544C>T	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276514	0.40294	.	.	ENSG00000124449	ENST00000244314	T	0.36699	1.24	5.64	4.58	0.56647	.	0.172140	0.40064	N	0.001194	T	0.52869	0.1761	M	0.69358	2.11	0.31207	N	0.699079	D	0.89917	1.0	D	0.81914	0.995	T	0.59284	-0.7483	10	0.52906	T	0.07	.	7.2624	0.26212	0.1702:0.7453:0.0:0.0845	.	182	Q6NXR0	IIGP5_HUMAN	S	182	ENSP00000244314:P182S	ENSP00000244314:P182S	P	+	1	0	IRGC	48915094	0.487000	0.25988	0.997000	0.53966	0.120000	0.20174	1.069000	0.30641	1.342000	0.45619	0.650000	0.86243	CCG		0.682	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		4	29	0	0	0	0.000602	0	4	29				
ZNF225	7768	broad.mit.edu	37	19	44636290	44636290	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:44636290G>C	ENST00000262894.6	+	5	1803	c.1523G>C	c.(1522-1524)gGa>gCa	p.G508A	ZNF225_ENST00000590612.1_Missense_Mutation_p.G508A|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	508					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.G508A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GTCCACAGTGGAGAAAAACCA	0.378																																							uc002oyj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1522-1524)GGA>GCA		zinc finger protein 225							73.0	81.0	78.0					19																	44636290		2191	4293	6484	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636290G>C	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1523G>C	19.37:g.44636290G>C	ENSP00000262894:p.Gly508Ala					ZNF225_uc010eje.1_Missense_Mutation_p.G425A|ZNF225_uc010ejf.1_Missense_Mutation_p.G508A	p.G508A	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			5	1766	+		Prostate(69;0.0352)|all_neural(266;0.202)	508					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1523G>C	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858316	0.71834	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.26373	1.74	2.65	2.65	0.31530	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37404	0.1002	L	0.45744	1.44	0.26340	N	0.977375	D	0.89917	1.0	D	0.91635	0.999	T	0.14811	-1.0459	9	0.87932	D	0	.	3.3983	0.07313	0.143:0.0:0.6013:0.2558	.	508	Q9UK10	ZN225_HUMAN	A	508;472	ENSP00000262894:G508A	ENSP00000262894:G508A	G	+	2	0	ZNF225	49328130	0.000000	0.05858	0.224000	0.23877	0.989000	0.77384	0.025000	0.13577	1.462000	0.47948	0.561000	0.74099	GGA		0.378	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			21	50	0	0	0	0.002299	0	21	50				
ZNF227	7770	broad.mit.edu	37	19	44739160	44739160	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:44739160A>C	ENST00000313040.7	+	6	782	c.577A>C	c.(577-579)Aag>Cag	p.K193Q	ZNF227_ENST00000589005.1_Missense_Mutation_p.K142Q|ZNF227_ENST00000391961.2_Missense_Mutation_p.K142Q	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	193					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.K193Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GAGTAGAGGTAAGCAAATTGA	0.358																																							uc002oyu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)AAG>CAG		zinc finger protein 227							53.0	53.0	53.0					19																	44739160		2202	4298	6500	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739160A>C	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.577A>C	19.37:g.44739160A>C	ENSP00000321049:p.Lys193Gln					ZNF227_uc010xwu.1_Missense_Mutation_p.K142Q|ZNF227_uc002oyv.2_Missense_Mutation_p.K193Q|ZNF227_uc010xwv.1_Missense_Mutation_p.K142Q|ZNF227_uc010xww.1_Missense_Mutation_p.K114Q|ZNF227_uc002oyw.2_Missense_Mutation_p.K165Q|ZNF227_uc010ejh.2_Missense_Mutation_p.K186Q|ZNF235_uc002oyx.1_Intron	p.K193Q	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	782	+		Prostate(69;0.0435)	193					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.577A>C	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	0.336	-0.953368	0.02285	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	T;T	0.07216	3.32;3.21	4.27	-0.376	0.12505	.	.	.	.	.	T	0.02342	0.0072	N	0.01277	-0.915	0.09310	N	0.999999	B;B;B;B	0.19817	0.039;0.039;0.039;0.039	B;B;B;B	0.16722	0.016;0.016;0.016;0.016	T	0.47509	-0.9112	9	0.18276	T	0.48	.	4.9252	0.13889	0.4998:0.3232:0.1771:0.0	.	114;172;145;193	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	Q	193;150;142;172	ENSP00000321049:K193Q;ENSP00000375823:K142Q	ENSP00000321049:K193Q	K	+	1	0	ZNF227	49431000	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.841000	0.04359	-0.258000	0.09446	-0.460000	0.05396	AAG		0.358	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		7	31	0	0	0	0.001984	0	7	31				
CEACAM20	125931	broad.mit.edu	37	19	45015707	45015707	+	RNA	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:45015707C>T	ENST00000454753.1	-	0	1878							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.E532E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CATAGGTCTCCTCTGGAAGGT	0.443																																							uc010ejn.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(1597-1599)GAG>GAA		carcinoembryonic antigen-related cell adhesion							40.0	39.0	39.0					19																	45015707		1853	4084	5937			125931					integral to membrane		g.chr19:45015707C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015707C>T						CEACAM20_uc010ejo.1_Intron|CEACAM20_uc010ejp.1_Silent_p.E440E|CEACAM20_uc010ejq.1_Intron	p.E533E	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			11	1615	-		Prostate(69;0.0352)	533			Cytoplasmic (Potential).			Silent	SNP	ENST00000454753.1	37	c.1599G>A																																																																																					0.443	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		5	12	0	0	0	0.000602	0	5	12				
BCL3	602	broad.mit.edu	37	19	45262791	45262791	+	Silent	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:45262791A>C	ENST00000164227.5	+	9	1528	c.1284A>C	c.(1282-1284)ccA>ccC	p.P428P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	428	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCCCATCTCCACCCGCCTTCC	0.682			T	IGH@	CLL																																		uc010xxe.1		NA		Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL 		0				ovary(1)|lung(1)	2						c.(1282-1284)CCA>CCC		B-cell CLL/lymphoma 3							102.0	113.0	109.0					19																	45262791		2203	4300	6503	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262791A>C	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1284A>C	19.37:g.45262791A>C							p.P428P	NM_005178	NP_005169	P20749	BCL3_HUMAN			9	1354	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	428			Pro/Ser-rich.			Silent	SNP	ENST00000164227.5	37	c.1284A>C	CCDS12642.2																																																																																				0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		12	162	0	0	0	0.007291	0	12	162				
PPP1R13L	10848	broad.mit.edu	37	19	45901276	45901276	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:45901276C>A	ENST00000418234.2	-	3	263	c.185G>T	c.(184-186)gGa>gTa	p.G62V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G62V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	62	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G62V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGAAGGGGGTCCGGCCTGCGG	0.627																																					Pancreas(61;1447 1663 31419 50578)	Pancreas(61;1447 1663 31419 50578)	uc002pbn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(184-186)GGA>GTA		protein phosphatase 1, regulatory subunit 13							32.0	37.0	36.0					19																	45901276		2203	4300	6503	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45901276C>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.185G>T	19.37:g.45901276C>A	ENSP00000403902:p.Gly62Val					PPP1R13L_uc002pbo.2_Missense_Mutation_p.G62V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.G62V	p.G62V	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	3	262	-		all_neural(266;0.224)|Ovarian(192;0.231)	62			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.185G>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476415	0.63737	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.60548	0.18;0.18	4.17	0.601	0.17529	.	1.588720	0.02946	N	0.141057	T	0.44117	0.1278	N	0.14661	0.345	0.09310	N	0.999997	B;B	0.32829	0.386;0.041	B;B	0.33620	0.167;0.017	T	0.38714	-0.9648	10	0.27785	T	0.31	.	11.9434	0.52913	0.0:0.4838:0.5162:0.0	.	62;62	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	V	62	ENSP00000403902:G62V;ENSP00000354218:G62V	ENSP00000354218:G62V	G	-	2	0	PPP1R13L	50593116	0.106000	0.21978	0.046000	0.18839	0.837000	0.47467	1.232000	0.32636	0.128000	0.18479	-0.344000	0.07964	GGA		0.627	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		6	33	1	0	0.00116845	0.001168	0.00142726	6	33				
NOVA2	4858	broad.mit.edu	37	19	46443365	46443365	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:46443365G>A	ENST00000263257.5	-	4	1429	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	412	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A412V(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CTCAGGCACCGCAATCTCCAC	0.692																																							uc002pdv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1234-1236)GCG>GTG		neuro-oncological ventral antigen 2							80.0	82.0	81.0					19																	46443365		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46443365G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1235C>T	19.37:g.46443365G>A	ENSP00000263257:p.Ala412Val						p.A412V	NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1283	-		all_neural(266;0.113)|Ovarian(192;0.127)	412			KH 3.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.1235C>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030524	0.75504	.	.	ENSG00000104967	ENST00000263257	T	0.28069	1.63	3.56	3.56	0.40772	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	N	0.16201	0.385	0.58432	D	0.999996	D	0.67145	0.996	D	0.66979	0.948	T	0.05954	-1.0854	10	0.22706	T	0.39	-19.6192	12.7411	0.57253	0.0:0.0:1.0:0.0	.	412	Q9UNW9	NOVA2_HUMAN	V	412	ENSP00000263257:A412V	ENSP00000263257:A412V	A	-	2	0	NOVA2	51135205	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.343000	0.97047	1.863000	0.54032	0.306000	0.20318	GCG		0.692	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		4	100	0	0	0	0.000602	0	4	100				
C5AR1	728	broad.mit.edu	37	19	47823415	47823415	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:47823415G>T	ENST00000355085.3	+	2	403	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	127					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.L127L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCCTGCTCCTGGCCACCATCA	0.622																																							uc002pgj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(379-381)CTG>CTT		complement component 5 receptor 1							70.0	68.0	68.0					19																	47823415		2203	4300	6503	SO:0001819	synonymous_variant	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823415G>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.381G>T	19.37:g.47823415G>T							p.L127L	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	430	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	127			Helical; Name=3; (Potential).			Silent	SNP	ENST00000355085.3	37	c.381G>T	CCDS33063.1																																																																																				0.622	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		17	66	1	0	1.99824e-07	0.00499	3.27089e-07	17	66				
TRPM4	54795	broad.mit.edu	37	19	49684691	49684691	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:49684691A>T	ENST00000252826.5	+	10	1362	c.1236A>T	c.(1234-1236)gaA>gaT	p.E412D	TRPM4_ENST00000427978.2_Missense_Mutation_p.E412D|TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	412					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.E412D(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCAGAGTGAACTCTTTCGGG	0.597																																							uc002pmw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1234-1236)GAA>GAT		transient receptor potential cation channel,							70.0	65.0	66.0					19																	49684691		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49684691A>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1236A>T	19.37:g.49684691A>T	ENSP00000252826:p.Glu412Asp					TRPM4_uc010emu.2_Missense_Mutation_p.E412D|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.E238D|TRPM4_uc010emv.2_Missense_Mutation_p.E297D|TRPM4_uc010yal.1_Intron|TRPM4_uc002pmy.2_5'Flank	p.E412D	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	10	1308	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	412			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.1236A>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698604	0.68501	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.28895	1.59;1.59	3.92	0.861	0.19048	.	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;P;D	0.74023	0.919;0.838;0.982	T	0.22173	-1.0224	10	0.72032	D	0.01	-16.8672	6.4652	0.21977	0.401:0.0:0.599:0.0	.	238;412;412	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	D	412	ENSP00000252826:E412D;ENSP00000407492:E412D	ENSP00000252826:E412D	E	+	3	2	TRPM4	54376503	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	1.109000	0.31135	0.080000	0.16959	0.374000	0.22700	GAA		0.597	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		4	31	0	0	0	0.000248	0	4	31				
CPT1C	126129	broad.mit.edu	37	19	50216267	50216267	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:50216267G>T	ENST00000392518.4	+	19	2544	c.2172G>T	c.(2170-2172)atG>atT	p.M724I	CPT1C_ENST00000323446.5_Missense_Mutation_p.M724I|CPT1C_ENST00000354199.5_Missense_Mutation_p.M635I|CPT1C_ENST00000598293.1_Missense_Mutation_p.M724I|CPT1C_ENST00000405931.2_Missense_Mutation_p.M713I	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	724					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.M724I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATATCTTCATGGGGGATGGCA	0.488																																							uc002ppj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2170-2172)ATG>ATT		carnitine palmitoyltransferase 1C isoform 2							244.0	213.0	223.0					19																	50216267		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50216267G>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.2172G>T	19.37:g.50216267G>T	ENSP00000376303:p.Met724Ile					CPT1C_uc002ppi.2_Missense_Mutation_p.M641I|CPT1C_uc002ppk.2_Missense_Mutation_p.M713I|CPT1C_uc010eng.2_Missense_Mutation_p.M724I|CPT1C_uc010enh.2_Missense_Mutation_p.M724I|CPT1C_uc010eni.1_Missense_Mutation_p.M292I	p.M724I	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	18	2377	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	724			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.2172G>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	g	10.16	1.274278	0.23221	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.62	3.59	0.41128	.	0.136800	0.34652	N	0.003796	T	0.78419	0.4280	L	0.31476	0.935	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.15052	0.001;0.012	T	0.68345	-0.5433	10	0.23891	T	0.37	-18.0451	3.914	0.09214	0.0891:0.1583:0.5892:0.1633	.	713;724	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	I	724;635;713;724	ENSP00000376303:M724I;ENSP00000346138:M635I;ENSP00000384465:M713I;ENSP00000319343:M724I	ENSP00000319343:M724I	M	+	3	0	CPT1C	54908079	0.006000	0.16342	0.998000	0.56505	0.846000	0.48090	-0.094000	0.11094	1.334000	0.45468	-0.127000	0.14921	ATG		0.488	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		15	188	1	0	0.006122	0.006122	0.00713292	15	188				
IZUMO2	126123	broad.mit.edu	37	19	50657931	50657931	+	Silent	SNP	C	C	A	rs200299576		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:50657931C>A	ENST00000293405.3	-	6	549	c.549G>T	c.(547-549)ccG>ccT	p.P183P		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	183						integral component of membrane (GO:0016021)		p.P183P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CCTGGTTCCTCGGGTATTTGC	0.622																																							uc002prp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(547-549)CCG>CCT		hypothetical protein LOC126123 precursor							129.0	145.0	139.0					19																	50657931		2080	4193	6273	SO:0001819	synonymous_variant	126123					integral to membrane		g.chr19:50657931C>A	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.549G>T	19.37:g.50657931C>A							p.P183P	NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)	6	636	-		all_neural(266;0.0459)|Ovarian(192;0.0728)	183			Extracellular (Potential).		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Silent	SNP	ENST00000293405.3	37	c.549G>T	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	C	3.110	-0.182811	0.06340	.	.	ENSG00000161652	ENST00000377000	.	.	.	3.43	-0.0595	0.13793	.	.	.	.	.	T	0.38904	0.1058	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39313	-0.9620	5	0.87932	D	0	.	5.8905	0.18911	0.0:0.6338:0.0:0.3662	.	.	.	.	L	148	.	ENSP00000366199:R148L	R	-	2	0	IZUMO2	55349743	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.062000	0.11674	0.093000	0.17368	0.305000	0.20034	CGA		0.622	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		4	65	1	0	0.00024832	0.000248	0.000325365	4	65				
MYBPC2	4606	broad.mit.edu	37	19	50958471	50958471	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:50958471C>A	ENST00000357701.5	+	19	2172	c.2121C>A	c.(2119-2121)atC>atA	p.I707I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	707	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.I707I(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCGAGGGCATCCTCTATGAGA	0.517																																							uc002psf.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(2119-2121)ATC>ATA		myosin binding protein C, fast type							126.0	127.0	127.0					19																	50958471		2029	4184	6213	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50958471C>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2121C>A	19.37:g.50958471C>A							p.I707I	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	19	2172	+		all_neural(266;0.057)	707			Fibronectin type-III 1.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.2121C>A	CCDS46152.1																																																																																				0.517	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	84	1	0	2.0095e-06	0.001984	3.08069e-06	5	84				
GPR32	2854	broad.mit.edu	37	19	51274753	51274753	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:51274753A>C	ENST00000270590.4	+	1	1033	c.896A>C	c.(895-897)cAg>cCg	p.Q299P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	299					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.Q299P(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)		CTCATCCTCCAGGCTAGCTTT	0.517																																					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.(895-897)CAG>CCG		G protein-coupled receptor 32							85.0	82.0	83.0					19																	51274753		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274753A>C	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.896A>C	19.37:g.51274753A>C	ENSP00000270590:p.Gln299Pro						p.Q299P	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	896	+		all_neural(266;0.131)	299			Extracellular (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.896A>C	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.462204	0.00171	.	.	ENSG00000142511	ENST00000270590	T	0.36878	1.23	2.48	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10294	0.0252	N	0.01209	-0.955	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.34551	-0.9824	9	0.09084	T	0.74	.	4.9048	0.13793	0.3613:0.0:0.6387:0.0	.	299	O75388	GPR32_HUMAN	P	299	ENSP00000270590:Q299P	ENSP00000270590:Q299P	Q	+	2	0	GPR32	55966565	0.010000	0.17322	0.071000	0.20095	0.101000	0.19017	1.812000	0.38952	0.280000	0.22209	0.260000	0.18958	CAG		0.517	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			7	65	0	0	0	0.006214	0	7	65				
SIGLEC9	27180	broad.mit.edu	37	19	51630361	51630361	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:51630361G>C	ENST00000250360.3	+	4	890	c.823G>C	c.(823-825)Gat>Cat	p.D275H	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.D275H	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	275	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.D275H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTGTGCAGTTGATGCAGTTGA	0.597																																							uc002pvu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(823-825)GAT>CAT		sialic acid binding Ig-like lectin 9 precursor							106.0	102.0	104.0					19																	51630361		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630361G>C	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.823G>C	19.37:g.51630361G>C	ENSP00000250360:p.Asp275His					SIGLEC9_uc010yct.1_Missense_Mutation_p.D275H	p.D275H	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	890	+		all_neural(266;0.0529)	275			Extracellular (Potential).|Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.823G>C	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	3.698	-0.062131	0.07317	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13089	2.62;2.62	.	.	.	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.30763	0.294	B	0.26094	0.066	T	0.35475	-0.9787	7	0.46703	T	0.11	.	.	.	.	.	275	Q9Y336	SIGL9_HUMAN	H	275	ENSP00000413861:D275H;ENSP00000250360:D275H	ENSP00000250360:D275H	D	+	1	0	SIGLEC9	56322173	0.241000	0.23857	0.056000	0.19401	0.090000	0.18270	0.064000	0.14437	0.088000	0.17205	0.089000	0.15464	GAT		0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		12	66	0	0	0	0.001368	0	12	66				
CD33	945	broad.mit.edu	37	19	51738451	51738451	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:51738451T>C	ENST00000262262.4	+	5	806	c.785T>C	c.(784-786)aTt>aCt	p.I262T	CD33_ENST00000436584.2_Missense_Mutation_p.I135T|CD33_ENST00000391796.3_Missense_Mutation_p.I262T|CD33_ENST00000421133.2_Missense_Mutation_p.I135T	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	262					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.I262T(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CATGGGGCCATTGGAGGAGCT	0.493																																							uc002pwa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(784-786)ATT>ACT		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						145.0	121.0	129.0					19																	51738451		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51738451T>C	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.785T>C	19.37:g.51738451T>C	ENSP00000262262:p.Ile262Thr					CD33_uc010eos.1_Missense_Mutation_p.I262T|CD33_uc010eot.1_Missense_Mutation_p.I135T|CD33_uc010eou.1_RNA	p.I262T	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	5	825	+		all_neural(266;0.0199)	262			Helical; (Potential).		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.785T>C	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.462394	0.26248	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.38560	1.13;3.21;3.21;2.13	4.03	1.88	0.25563	.	1.477300	0.05248	U	0.513478	T	0.40979	0.1139	L	0.55213	1.73	0.09310	N	1	P;B;P	0.44734	0.808;0.244;0.842	B;B;B	0.42771	0.281;0.038;0.397	T	0.23940	-1.0174	10	0.40728	T	0.16	.	5.6956	0.17853	0.0:0.2294:0.0:0.7706	.	135;262;262	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	T	135;262;135;262	ENSP00000403331:I135T;ENSP00000262262:I262T;ENSP00000410126:I135T;ENSP00000375673:I262T	ENSP00000262262:I262T	I	+	2	0	CD33	56430263	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.018000	0.13422	0.227000	0.20999	0.460000	0.39030	ATT		0.493	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		8	39	0	0	0	0.004482	0	8	39				
SIGLEC10	89790	broad.mit.edu	37	19	51919589	51919589	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:51919589G>A	ENST00000339313.5	-	4	845	c.729C>T	c.(727-729)atC>atT	p.I243I	SIGLEC10_ENST00000432469.2_Silent_p.I160I|SIGLEC10_ENST00000439889.2_Silent_p.I185I|SIGLEC10_ENST00000436984.2_Silent_p.I195I|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000353836.5_Silent_p.I243I|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.I243I|SIGLEC10_ENST00000442846.3_Silent_p.I185I|SIGLEC10_ENST00000525998.1_Silent_p.I243I|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.I185I			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	243					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.I185I(1)|p.I243I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTGAAATGCTGATAACAAGGT	0.532																																							uc002pwo.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(727-729)ATC>ATT		sialic acid binding Ig-like lectin 10 precursor							122.0	122.0	122.0					19																	51919589		2203	4300	6503	SO:0001819	synonymous_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51919589G>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.729C>T	19.37:g.51919589G>A						SIGLEC10_uc002pwp.2_Silent_p.I185I|SIGLEC10_uc002pwq.2_Silent_p.I185I|SIGLEC10_uc002pwr.2_Silent_p.I243I|SIGLEC10_uc010ycy.1_Silent_p.I243I|SIGLEC10_uc010ycz.1_Silent_p.I195I|SIGLEC10_uc010eow.2_Missense_Mutation_p.S8L|SIGLEC10_uc002pws.1_Silent_p.I169I	p.I243I	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	4	1345	-		all_neural(266;0.0199)	243			Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	c.729C>T	CCDS12832.1																																																																																				0.532	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		18	85	0	0	0	0.001523	0	18	85				
SIGLEC5	8778	broad.mit.edu	37	19	52132675	52132675	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:52132675G>T	ENST00000534261.2	-	4	1035	c.636C>A	c.(634-636)acC>acA	p.T212T	SIGLEC5_ENST00000222107.4_Silent_p.T212T|SIGLEC5_ENST00000429354.3_Silent_p.T212T|SIGLEC5_ENST00000599649.1_Silent_p.T212T|SIGLEC5_ENST00000570106.2_Silent_p.T212T			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	212	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.T212T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCATCTGACAGGTGAGGTTGG	0.637																																							uc002pxe.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)|central_nervous_system(1)	4						c.(634-636)ACC>ACA		sialic acid binding Ig-like lectin 5 precursor							112.0	100.0	104.0					19																	52132675		2203	4300	6503	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52132675G>T	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.636C>A	19.37:g.52132675G>T							p.T212T	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	3	775	-		all_neural(266;0.0726)	212			Extracellular (Potential).|Ig-like C2-type 1.			Silent	SNP	ENST00000534261.2	37	c.636C>A	CCDS33088.1																																																																																				0.637	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		8	51	1	0	0.00448238	0.004482	0.00529312	8	51				
ZNF616	90317	broad.mit.edu	37	19	52618394	52618394	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:52618394T>A	ENST00000600228.1	-	4	2284	c.2023A>T	c.(2023-2025)Aac>Tac	p.N675Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	675					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.N675Y(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GCAGTGAGGTTTGAGCTCCGT	0.403																																							uc002pym.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2023-2025)AAC>TAC		zinc finger protein 616							147.0	139.0	142.0					19																	52618394		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618394T>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2023A>T	19.37:g.52618394T>A	ENSP00000471000:p.Asn675Tyr					ZNF616_uc002pyn.2_RNA	p.N675Y	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2306	-			675			C2H2-type 18.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2023A>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	6.574	0.474304	0.12521	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.97	-3.93	0.04143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	L	0.35593	1.075	0.09310	N	1	B	0.25390	0.125	B	0.23419	0.046	T	0.20438	-1.0275	8	0.24483	T	0.36	.	3.4347	0.07441	0.5037:0.1321:0.0:0.3642	.	675	Q08AN1	ZN616_HUMAN	Y	675	.	ENSP00000328722:N675Y	N	-	1	0	ZNF616	57310206	0.000000	0.05858	0.000000	0.03702	0.751000	0.42716	-3.991000	0.00318	-1.076000	0.03125	0.254000	0.18369	AAC		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		11	140	0	0	0	0.008291	0	11	140				
ZNF578	147660	broad.mit.edu	37	19	53015127	53015127	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:53015127T>C	ENST00000421239.2	+	6	1737	c.1493T>C	c.(1492-1494)cTt>cCt	p.L498P	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	498					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.L498P(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGGTCATCTCTTCCATGCCAT	0.398																																							uc002pzp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1492-1494)CTT>CCT		zinc finger protein 578							84.0	87.0	86.0					19																	53015127		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53015127T>C	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1493T>C	19.37:g.53015127T>C	ENSP00000459216:p.Leu498Pro						p.L498P	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1737	+			273			C2H2-type 10.		B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.1493T>C	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	13.15	2.151068	0.38021	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.54	1.54	0.23209	.	.	.	.	.	T	0.70859	0.3272	M	0.91972	3.26	0.18873	N	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.57406	-0.7817	7	.	.	.	.	7.9605	0.30068	0.0:0.0:0.0:1.0	.	498	G3V4F6	.	P	498	.	.	L	+	2	0	ZNF578	57706939	0.861000	0.29849	0.002000	0.10522	0.044000	0.14063	5.886000	0.69743	0.701000	0.31803	0.254000	0.18369	CTT		0.398	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		13	68	0	0	0	0.003163	0	13	68				
ZNF611	81856	broad.mit.edu	37	19	53208789	53208789	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:53208789C>T	ENST00000319783.1	-	7	1835	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	ZNF611_ENST00000595798.1_Missense_Mutation_p.E438K|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.E507K|ZNF611_ENST00000453741.2_Missense_Mutation_p.E438K|ZNF611_ENST00000602162.1_Missense_Mutation_p.E438K|ZNF611_ENST00000543227.1_Missense_Mutation_p.E507K	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	507					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.E507K(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TAAGGTTGCTCCCCAGTATGA	0.358																																							uc002pzz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1519-1521)GAG>AAG		zinc finger protein 611 isoform a							101.0	102.0	102.0					19																	53208789		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208789C>T	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1519G>A	19.37:g.53208789C>T	ENSP00000322427:p.Glu507Lys					ZNF611_uc010eqc.2_Missense_Mutation_p.E437K|ZNF611_uc010ydo.1_Missense_Mutation_p.E437K|ZNF611_uc010ydr.1_Missense_Mutation_p.E438K|ZNF611_uc010ydp.1_Missense_Mutation_p.E507K|ZNF611_uc010ydq.1_Missense_Mutation_p.E507K|ZNF611_uc002qaa.3_Missense_Mutation_p.E437K	p.E507K	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	1836	-			507					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1519G>A	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	17.92	3.507014	0.64410	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	1.51	1.51	0.23008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30823	0.0777	L	0.60455	1.87	0.28793	N	0.899214	P	0.40083	0.702	P	0.44811	0.461	T	0.21690	-1.0238	9	0.66056	D	0.02	.	9.9173	0.41442	0.0:1.0:0.0:0.0	.	507	Q8N823	ZN611_HUMAN	K	507;507;438;507	ENSP00000437616:E507K;ENSP00000439211:E507K;ENSP00000443505:E438K;ENSP00000322427:E507K	ENSP00000322427:E507K	E	-	1	0	ZNF611	57900601	0.068000	0.21057	0.011000	0.14972	0.002000	0.02628	1.885000	0.39678	0.793000	0.33875	0.205000	0.17691	GAG		0.358	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		36	113	0	0	0	0.003271	0	36	113				
ZNF320	162967	broad.mit.edu	37	19	53383932	53383932	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:53383932G>T	ENST00000595635.1	-	8	1948	c.1447C>A	c.(1447-1449)Ctc>Atc	p.L483I	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.L483I|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	483					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.L483I(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTGCAAGGAGTGACCTCAGA	0.383																																							uc002qag.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1447-1449)CTC>ATC		zinc finger protein 320							85.0	76.0	79.0					19																	53383932		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53383932G>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1447C>A	19.37:g.53383932G>T	ENSP00000473091:p.Leu483Ile					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.L429I|ZNF320_uc002qai.2_Missense_Mutation_p.L483I	p.L483I	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1638	-			483			C2H2-type 12; degenerate.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1447C>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	7.145	0.582634	0.13749	.	.	ENSG00000182986	ENST00000391781	T	0.38560	1.13	1.75	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	P	0.42649	0.786	B	0.40009	0.316	T	0.20009	-1.0288	9	0.23302	T	0.38	.	6.1174	0.20134	0.0:0.158:0.6156:0.2264	.	483	A2RRD8	ZN320_HUMAN	I	483	ENSP00000375660:L483I	ENSP00000375660:L483I	L	-	1	0	ZNF320	58075744	0.000000	0.05858	0.010000	0.14722	0.566000	0.35808	-3.644000	0.00405	-0.173000	0.10761	0.194000	0.17425	CTC		0.383	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		12	54	1	0	0.000978159	0.000978	0.00121441	12	54				
NLRP12	91662	broad.mit.edu	37	19	54314539	54314539	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:54314539G>C	ENST00000324134.6	-	3	542	c.374C>G	c.(373-375)cCc>cGc	p.P125R	NLRP12_ENST00000391775.3_Missense_Mutation_p.P125R|NLRP12_ENST00000535162.1_Missense_Mutation_p.P125R|NLRP12_ENST00000345770.5_Missense_Mutation_p.P125R|NLRP12_ENST00000391773.1_Missense_Mutation_p.P125R|NLRP12_ENST00000354278.3_Missense_Mutation_p.P125R|NLRP12_ENST00000351894.4_Missense_Mutation_p.P125R|NLRP12_ENST00000391772.1_Missense_Mutation_p.P125R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.P125R(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTTTCCTGGGGATCTAGGGG	0.537																																							uc002qch.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(373-375)CCC>CGC		NLR family, pyrin domain containing 12 isoform							70.0	69.0	69.0					19																	54314539		2202	4297	6499	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314539G>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.374C>G	19.37:g.54314539G>C	ENSP00000319377:p.Pro125Arg					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.P125R|NLRP12_uc002qcj.3_Missense_Mutation_p.P125R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.P125R	p.P125R	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	594	-	Ovarian(34;0.19)		125					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.374C>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139738	0.21205	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.73897	-0.73;-0.75;-0.79;-0.79;-0.77;-0.73;-0.77	4.47	2.2	0.27929	.	0.173364	0.27811	N	0.017747	T	0.76772	0.4034	M	0.65975	2.015	0.58432	D	0.99999	D;D;D;D	0.63880	0.993;0.981;0.981;0.985	P;P;P;P	0.59288	0.855;0.77;0.77;0.823	T	0.72243	-0.4350	10	0.24483	T	0.36	.	5.7154	0.17958	0.1952:0.1645:0.6403:0.0	.	125;125;125;125	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	R	125	ENSP00000319377:P125R;ENSP00000438030:P125R;ENSP00000340473:P125R;ENSP00000346231:P125R;ENSP00000375655:P125R;ENSP00000375653:P125R;ENSP00000375652:P125R	ENSP00000319377:P125R	P	-	2	0	NLRP12	59006351	0.572000	0.26668	0.387000	0.26183	0.388000	0.30384	0.633000	0.24598	0.995000	0.38917	0.306000	0.20318	CCC		0.537	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		9	66	0	0	0	0.006214	0	9	66				
LILRB3	11025	broad.mit.edu	37	19	54721091	54721091	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:54721091G>C	ENST00000391750.1	-	14	1903	c.1767C>G	c.(1765-1767)gcC>gcG	p.A589A	LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Silent_p.A589A|LILRA6_ENST00000270464.5_Silent_p.A590A|LILRA6_ENST00000419410.2_Silent_p.A590A|LILRB3_ENST00000346401.6_Silent_p.A601A|LILRB3_ENST00000424807.1_Silent_p.A589A|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000245620.9_Silent_p.A590A|LILRB3_ENST00000407860.2_Silent_p.A606A			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	589					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A589A(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CATCCTGGGAGGCTTCAGATG	0.632																																							uc002qef.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1765-1767)GCC>GCG		leukocyte immunoglobulin-like receptor,							81.0	85.0	83.0					19																	54721091		2203	4300	6503	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54721091G>C	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1767C>G	19.37:g.54721091G>C						LILRB3_uc002qee.1_Silent_p.A590A|LILRB3_uc002qeh.1_Silent_p.A589A|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.A589A|LILRA6_uc002qek.1_Silent_p.A590A|LILRB3_uc010erh.1_Silent_p.A606A|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.A589A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.A590A|LILRB3_uc002qep.1_Silent_p.A590A|LILRB3_uc002qeq.1_Silent_p.A589A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.A590A	p.A589A	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1878	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		589			Cytoplasmic (Potential).		C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	c.1767C>G	CCDS33105.1																																																																																				0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		9	26	0	0	0	0.004482	0	9	26				
LILRB4	11006	broad.mit.edu	37	19	55175015	55175015	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:55175015C>A	ENST00000391736.1	+	4	375	c.60C>A	c.(58-60)caC>caA	p.H20Q	LILRB4_ENST00000430952.2_Missense_Mutation_p.H20Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.H20Q|LILRB4_ENST00000270452.2_Missense_Mutation_p.H20Q|LILRB4_ENST00000391733.3_Missense_Mutation_p.H20Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	20			H -> D (in dbSNP:rs11540762). {ECO:0000269|PubMed:15489334}.		immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H20Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCAGGACCCACATGCAGGCAG	0.607																																							uc002qgp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(58-60)CAC>CAA		leukocyte immunoglobulin-like receptor,							55.0	60.0	58.0					19																	55175015		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175015C>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.60C>A	19.37:g.55175015C>A	ENSP00000375616:p.His20Gln					LILRB4_uc002qgo.1_Missense_Mutation_p.H61Q|LILRB4_uc002qgq.2_Missense_Mutation_p.H20Q|LILRB4_uc010ers.1_Intron|LILRB4_uc002qgr.2_Missense_Mutation_p.H61Q|LILRB4_uc010ert.2_Missense_Mutation_p.H61Q|LILRB4_uc010eru.2_Intron	p.H20Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	2	422	+			20					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.60C>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.701946	0.00725	.	.	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00463	7.33;7.33;7.33;7.29;7.34;7.25	2.4	-4.81	0.03180	.	.	.	.	.	T	0.00210	0.0006	N	0.12920	0.275	0.09310	N	1	B;B;B;B;B	0.28082	0.002;0.001;0.0;0.0;0.2	B;B;B;B;B	0.23852	0.003;0.007;0.007;0.0;0.049	T	0.40646	-0.9552	9	0.28530	T	0.3	.	2.1544	0.03808	0.1581:0.1283:0.4245:0.2891	.	20;20;20;20;61	C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;LIRB4_HUMAN;.	Q	61;20;20;20;20;20;20	ENSP00000375616:H20Q;ENSP00000270452:H20Q;ENSP00000408995:H20Q;ENSP00000375614:H20Q;ENSP00000375613:H20Q;ENSP00000401962:H20Q	ENSP00000270452:H20Q	H	+	3	2	LILRB4	59866827	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-3.050000	0.00628	-4.359000	0.00054	-2.002000	0.00443	CAC		0.607	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			13	50	1	0	7.93312e-07	0.00245	1.24304e-06	13	50				
KIR3DL1	3811	broad.mit.edu	37	19	55330026	55330026	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:55330026C>A	ENST00000391728.4	+	3	360	c.327C>A	c.(325-327)ccC>ccA	p.P109P	KIR3DL1_ENST00000326542.7_Silent_p.P109P|KIR3DL1_ENST00000402254.2_Silent_p.P109P|KIR3DL1_ENST00000538269.1_Silent_p.P109P|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000541392.1_Silent_p.P109P	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	109					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.P109P(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGTCGGCACCCAGCAACCCCG	0.602																																							uc002qhk.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(325-327)CCC>CCA		killer cell immunoglobulin-like receptor, three							72.0	69.0	70.0					19																	55330026		2177	4124	6301	SO:0001819	synonymous_variant	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55330026C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.327C>A	19.37:g.55330026C>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.P51P|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Silent_p.P51P|KIR3DL1_uc002qhl.3_Silent_p.P109P	p.P109P	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	390	+			109			Extracellular (Potential).		O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.327C>A	CCDS42621.1																																																																																				0.602	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		16	99	1	0	3.32936e-07	0.006122	5.31948e-07	16	99				
BRSK1	84446	broad.mit.edu	37	19	55817713	55817713	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:55817713C>T	ENST00000309383.1	+	17	2261	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	BRSK1_ENST00000590333.1_Missense_Mutation_p.R678C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R357C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	662					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R662C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AAAGCCCGTCCGCTTCCAGGT	0.637																																							uc002qkg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1984-1986)CGC>TGC		BR serine/threonine kinase 1							73.0	66.0	69.0					19																	55817713		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55817713C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1984C>T	19.37:g.55817713C>T	ENSP00000310649:p.Arg662Cys					BRSK1_uc002qkf.2_Missense_Mutation_p.R678C|BRSK1_uc002qkh.2_Missense_Mutation_p.R357C	p.R662C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	17	2261	+		Renal(1328;0.245)	662					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1984C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	19.63	3.862980	0.71949	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.74315	-0.83;1.67	5.11	4.0	0.46444	.	0.084638	0.46758	D	0.000267	T	0.71247	0.3317	L	0.29908	0.895	0.58432	D	0.999993	D;D	0.67145	0.993;0.996	P;P	0.53861	0.548;0.736	T	0.74234	-0.3731	10	0.87932	D	0	.	10.937	0.47251	0.3385:0.6615:0.0:0.0	.	662;678	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	C	662;357;357	ENSP00000310649:R662C;ENSP00000320853:R357C	ENSP00000310649:R662C	R	+	1	0	BRSK1	60509525	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.234000	0.58658	2.572000	0.86782	0.555000	0.69702	CGC		0.637	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		13	51	0	0	0	0.001368	0	13	51				
NLRP13	126204	broad.mit.edu	37	19	56436007	56436008	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:56436007_56436008CC>AA	ENST00000342929.3	-	3	404_405	c.405_406GG>TT	c.(403-408)caGGga>caTTga	p.135_136QG>H*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.135_136QG>H*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	135							ATP binding (GO:0005524)	p.Q135_G136>H*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTGGCATCCCTGGGTCTGCA	0.426																																							uc010ygg.1		NA																	1	Complex - compound substitution(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(403-408)CAGGGA>CATTGA		NACHT, leucine rich repeat and PYD containing																																				SO:0001587	stop_gained	126204						ATP binding	g.chr19:56436007_56436008CC>AA	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.405_406delinsAA	19.37:g.56436007_56436008delinsAA	ENSP00000343891:p.Q135_G136delinsH*						p.135_136QG>H*	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	3	430_431	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	135_136					Q7RTR5	Nonsense_Mutation	DNP	ENST00000342929.3	37	c.405_406GG>TT	CCDS33119.1																																																																																				0.426	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		9	55	0	0	0	0.004672	0	9	55				
PEG3	5178	broad.mit.edu	37	19	57327572	57327572	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:57327572G>T	ENST00000326441.9	-	10	2601	c.2238C>A	c.(2236-2238)gaC>gaA	p.D746E	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D622E|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D620E|PEG3_ENST00000423103.2_Missense_Mutation_p.D746E|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	746					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.D746E(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)		ACGCCTTTTCGTCCTCATCAC	0.408																																							uc002qnu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2236-2238)GAC>GAA		paternally expressed 3 isoform 1							147.0	142.0	144.0					19																	57327572		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.chr19:57327572G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2238C>A	19.37:g.57327572G>T	ENSP00000326581:p.Asp746Glu					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.D717E|PEG3_uc002qnv.2_Missense_Mutation_p.D746E|PEG3_uc002qnw.2_Missense_Mutation_p.D622E|PEG3_uc002qnx.2_Missense_Mutation_p.D620E|PEG3_uc010etr.2_Missense_Mutation_p.D746E	p.D746E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2589	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	746					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2238C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.283342	0.00251	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.14766	2.48;2.48	4.05	-8.09	0.01090	.	1.180830	0.06190	N	0.681164	T	0.04861	0.0131	N	0.08118	0	.	.	.	B;B;B	0.14012	0.0;0.007;0.009	B;B;B	0.12156	0.001;0.007;0.005	T	0.10428	-1.0630	9	0.15499	T	0.54	-6.8658	3.6242	0.08107	0.3615:0.3862:0.1122:0.14	.	622;746;681	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	E	746	ENSP00000326581:D746E;ENSP00000403051:D746E	ENSP00000326581:D746E	D	-	3	2	ZIM2	62019384	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-5.364000	0.00128	-5.292000	0.00017	-2.122000	0.00348	GAC		0.408	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			33	144	1	0	8.53417e-09	0.002836	1.46891e-08	33	144				
AURKC	6795	broad.mit.edu	37	19	57743931	57743931	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:57743931G>T	ENST00000302804.7	+	4	504	c.318G>T	c.(316-318)ctG>ctT	p.L106L	AURKC_ENST00000415300.2_Silent_p.L87L|AURKC_ENST00000598785.1_Silent_p.L72L|AURKC_ENST00000448930.1_Silent_p.L72L|AURKC_ENST00000599062.1_Silent_p.L103L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.L106L(1)|p.L72L(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TCCTGCGCCTGTATAACTATT	0.483																																							uc002qoe.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(2)	6						c.(316-318)CTG>CTT		aurora kinase C isoform 1							103.0	96.0	98.0					19																	57743931		2203	4300	6503	SO:0001819	synonymous_variant	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57743931G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.318G>T	19.37:g.57743931G>T						AURKC_uc002qoc.2_Silent_p.L87L|AURKC_uc002qod.2_Silent_p.L72L|AURKC_uc010etv.2_Silent_p.L103L	p.L106L	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	4	507	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	106			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	c.318G>T	CCDS33128.1																																																																																				0.483	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		18	65	1	0	2.94398e-08	0.007413	4.97673e-08	18	65				
ZNF543	125919	broad.mit.edu	37	19	57839241	57839241	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:57839241A>T	ENST00000321545.4	+	4	756	c.411A>T	c.(409-411)atA>atT	p.I137I		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	137					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.I137I(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTTGAAAATAGGGATAGGCC	0.478																																							uc002qoi.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)|pancreas(1)	2						c.(409-411)ATA>ATT		zinc finger protein 543							53.0	58.0	56.0					19																	57839241		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839241A>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.411A>T	19.37:g.57839241A>T							p.I137I	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	756	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	137					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.411A>T	CCDS33130.1																																																																																				0.478	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		6	39	0	0	0	0.00308	0	6	39				
ZNF8	7554	broad.mit.edu	37	19	58806148	58806148	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:58806148G>T	ENST00000196548.5	+	4	1105	c.974G>T	c.(973-975)aGt>aTt	p.S325I	ZNF8_ENST00000608843.1_Missense_Mutation_p.S325I|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	325					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S325I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TTCTGCCATAGTACACACCTT	0.567																																							uc002qry.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(973-975)AGT>ATT		zinc finger protein 8							102.0	105.0	104.0					19																	58806148		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806148G>T	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.974G>T	19.37:g.58806148G>T	ENSP00000196548:p.Ser325Ile					ZNF8_uc002qrz.2_RNA	p.S325I	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1104	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	325			C2H2-type 3.		Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.974G>T	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830621	0.50845	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.15952	2.38	4.82	4.82	0.62117	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000020	T	0.30916	0.0780	M	0.70108	2.13	0.09310	N	1	D	0.67145	0.996	P	0.62491	0.903	T	0.17684	-1.0361	10	0.20519	T	0.43	-25.4172	7.4592	0.27285	0.178:0.0:0.822:0.0	.	325	P17098	ZNF8_HUMAN	I	325;40	ENSP00000196548:S325I	ENSP00000196548:S325I	S	+	2	0	ZNF8	63497960	0.000000	0.05858	0.979000	0.43373	0.940000	0.58332	-0.048000	0.11944	2.671000	0.90904	0.644000	0.83932	AGT		0.567	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		8	45	1	0	0.000274275	0.004482	0.000355681	8	45				
C2orf48	348738	broad.mit.edu	37	2	10350553	10350553	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:10350553G>A	ENST00000381786.3	+	4	599	c.310G>A	c.(310-312)Ggg>Agg	p.G104R		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	104								p.G104R(1)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CTTCCAGACAGGGACACCCCT	0.567																																							uc002rai.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GGG>AGG		hypothetical protein LOC348738							53.0	57.0	55.0					2																	10350553		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10350553G>A	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.310G>A	2.37:g.10350553G>A	ENSP00000371205:p.Gly104Arg						p.G104R	NM_182626	NP_872432	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	599	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		104						Missense_Mutation	SNP	ENST00000381786.3	37	c.310G>A	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891163	0.17613	.	.	ENSG00000163009	ENST00000381786	T	0.35973	1.28	1.44	0.471	0.16752	.	.	.	.	.	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	B	0.34489	0.184	T	0.12785	-1.0534	9	0.87932	D	0	.	4.1275	0.10134	0.2373:0.0:0.7627:0.0	.	104	Q96LS8	CB048_HUMAN	R	104	ENSP00000371205:G104R	ENSP00000371205:G104R	G	+	1	0	C2orf48	10268004	0.001000	0.12720	0.001000	0.08648	0.117000	0.20001	0.323000	0.19593	0.131000	0.18576	0.498000	0.49722	GGG		0.567	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		9	42	0	0	0	0.008291	0	9	42				
NBAS	51594	broad.mit.edu	37	2	15358968	15358968	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:15358968C>G	ENST00000281513.5	-	48	6386	c.6361G>C	c.(6361-6363)Gag>Cag	p.E2121Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E2001Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2121					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E2121Q(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGTCCTCCTCAGTCAGGTGA	0.547																																							uc002rcc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(6361-6363)GAG>CAG		neuroblastoma-amplified protein							71.0	75.0	73.0					2																	15358968		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15358968C>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6361G>C	2.37:g.15358968C>G	ENSP00000281513:p.Glu2121Gln					NBAS_uc002rcb.1_Intron|NBAS_uc010exl.1_Missense_Mutation_p.E1193Q|NBAS_uc002rcd.1_Intron	p.E2121Q	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			48	6387	-			2121					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6361G>C	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742258	0.89573	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.32272	1.46;1.46	5.63	5.63	0.86233	.	0.089378	0.85682	D	0.000000	T	0.46521	0.1397	L	0.51422	1.61	0.48511	D	0.999666	D;P	0.63880	0.993;0.824	P;B	0.56216	0.794;0.345	T	0.40627	-0.9553	10	0.87932	D	0	.	18.6777	0.91534	0.0:1.0:0.0:0.0	.	2001;2121	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	Q	2001;2121	ENSP00000413201:E2001Q;ENSP00000281513:E2121Q	ENSP00000281513:E2121Q	E	-	1	0	NBAS	15276419	1.000000	0.71417	0.949000	0.38748	0.982000	0.71751	6.932000	0.75869	2.644000	0.89710	0.591000	0.81541	GAG		0.547	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		5	58	0	0	0	0.000602	0	5	58				
FKBP1B	2281	broad.mit.edu	37	2	24276809	24276809	+	Silent	SNP	G	G	A	rs200671091		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:24276809G>A	ENST00000380986.4	+	2	211	c.75G>A	c.(73-75)gtG>gtA	p.V25V	FKBP1B_ENST00000452109.1_5'UTR|FKBP1B_ENST00000380991.4_Silent_p.V25V	NM_004116.3|NM_054033.2	NP_004107.1|NP_473374.1	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	25	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				'de novo' protein folding (GO:0006458)|calcium ion transmembrane transport (GO:0070588)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|chaperone-mediated protein folding (GO:0061077)|cytosolic calcium ion homeostasis (GO:0051480)|insulin secretion (GO:0030073)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neuronal action potential propagation (GO:0019227)|positive regulation of axon regeneration (GO:0048680)|positive regulation of sequestering of calcium ion (GO:0051284)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to redox state (GO:0051775)|response to vitamin E (GO:0033197)|smooth muscle contraction (GO:0006939)|T cell proliferation (GO:0042098)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium channel inhibitor activity (GO:0019855)|cyclic nucleotide binding (GO:0030551)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|receptor binding (GO:0005102)	p.V25V(2)		lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGTGTGGTGCACTACACAG	0.567																																							uc002rer.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(73-75)GTG>GTA		FK506 binding protein 1B, 12.6 kDa isoform a							144.0	143.0	143.0					2																	24276809		2203	4300	6503	SO:0001819	synonymous_variant	2281				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding	g.chr2:24276809G>A	D38037	CCDS1706.1, CCDS33153.1	2p23.3	2013-03-20	2002-08-29		ENSG00000119782	ENSG00000119782			3712	protein-coding gene	gene with protein product	"""calstabin 2"""	600620	"""FK506-binding protein 1B (12.6 kD)"""	FKBP1L		7513996	Standard	NM_004116		Approved	OTK4, FKBP12.6, PPIase, FKBP9	uc002rer.3	P68106	OTTHUMG00000151889	ENST00000380986.4:c.75G>A	2.37:g.24276809G>A						FKBP1B_uc002res.2_Silent_p.V25V|FKBP1B_uc002ret.2_RNA|FKBP1B_uc002reu.2_RNA	p.V25V	NM_004116	NP_004107	P68106	FKB1B_HUMAN			2	211	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		25			PPIase FKBP-type.		Q13664|Q16645|Q53TM2|Q9BQ40	Silent	SNP	ENST00000380986.4	37	c.75G>A	CCDS1706.1																																																																																				0.567	FKBP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207622.1	NM_004116		4	47	0	0	0	0.000248	0	4	47				
PLB1	151056	broad.mit.edu	37	2	28755041	28755041	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:28755041C>T	ENST00000327757.5	+	9	579	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	PLB1_ENST00000422425.2_Silent_p.L179L	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	179	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.L179L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAGTGTTACCTGTGCCCCTC	0.468																																							uc002rmb.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(535-537)CTG>TTG		phospholipase B1 precursor							189.0	171.0	177.0					2																	28755041		2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28755041C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.535C>T	2.37:g.28755041C>T						PLB1_uc010ezj.1_Silent_p.L179L	p.L179L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			9	535	+	Acute lymphoblastic leukemia(172;0.155)		179			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.535C>T	CCDS33168.1																																																																																				0.468	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			19	115	0	0	0	0.007413	0	19	115				
GALNT14	79623	broad.mit.edu	37	2	31165143	31165143	+	Missense_Mutation	SNP	G	G	T	rs541207790	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:31165143G>T	ENST00000349752.5	-	9	1494	c.855C>A	c.(853-855)ttC>ttA	p.F285L	GALNT14_ENST00000406653.1_Missense_Mutation_p.F265L|GALNT14_ENST00000420311.2_Missense_Mutation_p.F250L|GALNT14_ENST00000324589.5_Missense_Mutation_p.F290L|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.F252L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	285	Catalytic subdomain B.				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.F285F(1)|p.F285L(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCGATCACGAAGAGCCCTC	0.498																																							uc002rnr.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(853-855)TTC>TTA		N-acetylgalactosaminyltransferase 14							124.0	113.0	117.0					2																	31165143		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31165143G>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.855C>A	2.37:g.31165143G>T	ENSP00000288988:p.Phe285Leu					GALNT14_uc002rnq.2_Missense_Mutation_p.F265L|GALNT14_uc002rns.2_Missense_Mutation_p.F290L|GALNT14_uc010ymr.1_Missense_Mutation_p.F250L|GALNT14_uc010ezo.1_Missense_Mutation_p.F252L|GALNT14_uc010ezp.1_Intron	p.F285L	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			9	1474	-	Acute lymphoblastic leukemia(172;0.155)		285			Lumenal (Potential).|Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.855C>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220921	0.39201	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	4.92	-4.24	0.03777	.	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	M	0.80982	2.52	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.993;0.998;1.0;0.999	D	0.86510	0.1809	10	0.66056	D	0.02	.	14.6206	0.68582	0.7253:0.0:0.2747:0.0	.	250;252;290;285;265	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	L	285;290;265;252;250;252	ENSP00000288988:F285L;ENSP00000314500:F290L;ENSP00000385435:F265L;ENSP00000348497:F252L;ENSP00000415514:F250L;ENSP00000406399:F252L	ENSP00000314500:F290L	F	-	3	2	GALNT14	31018647	0.666000	0.27475	0.900000	0.35374	0.002000	0.02628	-0.007000	0.12810	-0.948000	0.03668	-0.768000	0.03414	TTC		0.498	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		15	40	1	0	4.14922e-12	0.004007	7.76526e-12	15	40				
GALNT14	79623	broad.mit.edu	37	2	31215704	31215704	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:31215704C>A	ENST00000349752.5	-	2	938	c.299G>T	c.(298-300)aGa>aTa	p.R100I	GALNT14_ENST00000406653.1_Splice_Site_p.R80I|AC009305.1_ENST00000449780.1_RNA|GALNT14_ENST00000420311.2_Splice_Site_p.R65I|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000356174.3_Splice_Site_p.S100I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	100					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.R100I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GAGGAAGTACCTCAGATGGCG	0.567																																							uc002rnr.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|skin(1)	3						c.(298-300)AGA>ATA		N-acetylgalactosaminyltransferase 14							98.0	96.0	97.0					2																	31215704		2203	4300	6503	SO:0001630	splice_region_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31215704C>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.299+1G>T	2.37:g.31215704C>A						GALNT14_uc002rnq.2_Missense_Mutation_p.R80I|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.R65I|GALNT14_uc010ezo.1_Missense_Mutation_p.S100I|GALNT14_uc010ezp.1_Missense_Mutation_p.R71I	p.R100I	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			2	918	-	Acute lymphoblastic leukemia(172;0.155)		100			Lumenal (Potential).		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.299G>T	CCDS1773.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.392951|3.392951	0.62066|0.62066	.|.	.|.	ENSG00000158089|ENSG00000158089	ENST00000349752;ENST00000406653;ENST00000420311|ENST00000356174;ENST00000430167	T;T;T|T;T	0.58940|0.72282	0.3;0.3;0.3|-0.64;-0.64	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|.	.|.	.|.	.|.	D|D	0.82953|0.82953	0.5149|0.5149	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;P;D;D|D	0.63880|0.89917	0.965;0.941;0.986;0.993|1.0	P;P;P;P|D	0.62184|0.85130	0.706;0.615;0.899;0.855|0.997	T|T	0.82615|0.82615	-0.0370|-0.0370	8|8	.|.	.|.	.|.	.|.	18.396|18.396	0.90499|0.90499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	65;65;100;80|100	F5H263;B7Z5C5;Q96FL9;B3KV89|Q96FL9-2	.;.;GLT14_HUMAN;.|.	I|I	100;80;65|100	ENSP00000288988:R100I;ENSP00000385435:R80I;ENSP00000415514:R65I|ENSP00000348497:S100I;ENSP00000406399:S100I	.|.	R|S	-|-	2|2	0|0	GALNT14|GALNT14	31069208|31069208	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.057000|0.057000	0.15508|0.15508	6.585000|6.585000	0.74062|0.74062	2.564000|2.564000	0.86499|0.86499	0.561000|0.561000	0.74099|0.74099	AGA|AGT		0.567	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572	Missense_Mutation	15	65	1	0	6.94344e-10	0.006122	1.23827e-09	15	65				
EHD3	30845	broad.mit.edu	37	2	31489370	31489370	+	Nonsense_Mutation	SNP	G	G	T	rs35925176		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:31489370G>T	ENST00000322054.5	+	6	1693	c.1408G>T	c.(1408-1410)Gag>Tag	p.E470*	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	470	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.E470*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGCCAAGAAGGAGATGGTGCG	0.572																																							uc002rnu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(1408-1410)GAG>TAG		EH-domain containing 3							108.0	91.0	97.0					2																	31489370		2203	4300	6503	SO:0001587	stop_gained	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31489370G>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1408G>T	2.37:g.31489370G>T	ENSP00000327116:p.Glu470*					EHD3_uc010ymt.1_3'UTR	p.E470*	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			6	2016	+	Acute lymphoblastic leukemia(172;0.155)		470			EH.		B4DFR5|D6W574|Q8N514|Q9NZB3	Nonsense_Mutation	SNP	ENST00000322054.5	37	c.1408G>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	41	8.630251	0.98892	.	.	ENSG00000013016	ENST00000322054	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-47.3813	19.8586	0.96775	0.0:0.0:1.0:0.0	.	.	.	.	X	470	.	ENSP00000327116:E470X	E	+	1	0	EHD3	31342874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.903000	0.87398	2.701000	0.92244	0.462000	0.41574	GAG		0.572	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		13	25	1	0	0.00010058	0.001368	0.00013651	13	25				
VIT	5212	broad.mit.edu	37	2	36994405	36994405	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:36994405T>A	ENST00000389975.3	+	7	958	c.656T>A	c.(655-657)gTg>gAg	p.V219E	VIT_ENST00000404084.1_Missense_Mutation_p.V197E|VIT_ENST00000379242.3_Missense_Mutation_p.V219E|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.V219E|VIT_ENST00000401530.1_Missense_Mutation_p.V219E	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	219					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.V219E(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCACAATCAGTGGGCCACAGG	0.552																																							uc002rpl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(655-657)GTG>GAG		vitrin							64.0	56.0	59.0					2																	36994405		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36994405T>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.656T>A	2.37:g.36994405T>A	ENSP00000374625:p.Val219Glu					VIT_uc010ynf.1_Intron|VIT_uc002rpm.2_Missense_Mutation_p.V212E|VIT_uc010ezv.2_Missense_Mutation_p.V212E|VIT_uc010ezw.2_Missense_Mutation_p.V212E	p.V219E	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			7	877	+		all_hematologic(82;0.248)	219					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.656T>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	T	7.961	0.747013	0.15710	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T	0.67523	-0.27;-0.17;-0.15;-0.15;-0.14	5.55	-3.76	0.04359	.	1.232420	0.05564	N	0.569932	T	0.52645	0.1747	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.31599	0.201;0.178;0.112;0.33	B;B;B;B	0.31191	0.109;0.079;0.024;0.125	T	0.40776	-0.9545	10	0.30078	T	0.28	0.9751	7.4167	0.27048	0.0:0.4533:0.1326:0.4141	.	219;219;219;219	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	E	219;219;197;219;219	ENSP00000368544:V219E;ENSP00000374625:V219E;ENSP00000384154:V197E;ENSP00000368543:V219E;ENSP00000385658:V219E	ENSP00000368543:V219E	V	+	2	0	VIT	36847909	0.012000	0.17670	0.005000	0.12908	0.093000	0.18481	0.059000	0.14322	-0.525000	0.06391	-0.924000	0.02725	GTG		0.552	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				12	16	0	0	0	0.000978	0	12	16				
PRKD3	23683	broad.mit.edu	37	2	37543459	37543459	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:37543459C>A	ENST00000379066.1	-	2	971	c.209G>T	c.(208-210)cGg>cTg	p.R70L	PRKD3_ENST00000477132.1_5'Flank|PRKD3_ENST00000234179.2_Missense_Mutation_p.R70L			O94806	KPCD3_HUMAN	protein kinase D3	70					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.R70L(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AACACTCTCCCGTGTGAGGCC	0.458																																					Melanoma(80;621 1355 8613 11814 51767)	Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(208-210)CGG>CTG		protein kinase D3							145.0	136.0	139.0					2																	37543459		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37543459C>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.209G>T	2.37:g.37543459C>A	ENSP00000368356:p.Arg70Leu					PRKD3_uc002rqf.1_Missense_Mutation_p.R70L	p.R70L	NM_005813	NP_005804	O94806	KPCD3_HUMAN			1	764	-		all_hematologic(82;0.21)	70					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.209G>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237008	0.95240	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.73047	-0.71;-0.71	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84406	0.5465	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.85685	0.1303	10	0.87932	D	0	-8.0633	17.9492	0.89047	0.0:1.0:0.0:0.0	.	70;70	O94806-2;O94806	.;KPCD3_HUMAN	L	70	ENSP00000368356:R70L;ENSP00000234179:R70L	ENSP00000234179:R70L	R	-	2	0	PRKD3	37396963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.067000	0.76741	2.665000	0.90641	0.591000	0.81541	CGG		0.458	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		15	76	1	0	1.02788e-11	0.00499	1.90175e-11	15	76				
SLC8A1	6546	broad.mit.edu	37	2	40655842	40655842	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:40655842C>A	ENST00000403092.1	-	2	1612	c.1579G>T	c.(1579-1581)Gcc>Tcc	p.A527S	SLC8A1_ENST00000406391.2_Missense_Mutation_p.A527S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A527S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A527S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A527S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A527S|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A527S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A527S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A527S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A527S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	527	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A527S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTTACAGTGGCAGTGGAGGGA	0.448																																							uc002rrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1579-1581)GCC>TCC		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						110.0	108.0	109.0					2																	40655842		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655842C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1579G>T	2.37:g.40655842C>A	ENSP00000384763:p.Ala527Ser					SLC8A1_uc002rry.2_Missense_Mutation_p.A527S|SLC8A1_uc002rrz.2_Missense_Mutation_p.A527S|SLC8A1_uc002rsa.2_Missense_Mutation_p.A527S|SLC8A1_uc002rsd.3_Missense_Mutation_p.A527S|SLC8A1_uc002rsb.1_Missense_Mutation_p.A527S|SLC8A1_uc010fan.1_Missense_Mutation_p.A527S|SLC8A1_uc002rsc.1_Missense_Mutation_p.A527S	p.A527S	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1603	-			527			Calx-beta 2.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1579G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016692	0.75161	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	H	0.95437	3.67	0.80722	D	1	P;P;P;D;P	0.55605	0.835;0.892;0.688;0.972;0.734	P;D;P;P;P	0.66602	0.852;0.945;0.72;0.841;0.817	T	0.81586	-0.0865	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	527;527;527;527;527	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	S	527	ENSP00000383886:A527S;ENSP00000440727:A527S;ENSP00000384763:A527S;ENSP00000385678:A527S;ENSP00000385188:A527S;ENSP00000385535:A527S;ENSP00000332931:A527S;ENSP00000384908:A527S;ENSP00000385811:A527S;ENSP00000443515:A527S	ENSP00000332931:A527S	A	-	1	0	SLC8A1	40509346	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.663000	0.83820	2.941000	0.99782	0.655000	0.94253	GCC		0.448	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		6	54	1	0	5.9392e-07	0.001168	9.42309e-07	6	54				
ABCG8	64241	broad.mit.edu	37	2	44099139	44099139	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:44099139G>A	ENST00000272286.2	+	7	1079	c.989G>A	c.(988-990)cGc>cAc	p.R330H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	330					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.R330H(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ATTGACAGGCGCAGCAGAGAG	0.557																																							uc002rtq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(988-990)CGC>CAC		ATP-binding cassette sub-family G member 8							80.0	77.0	78.0					2																	44099139		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44099139G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.989G>A	2.37:g.44099139G>A	ENSP00000272286:p.Arg330His					ABCG8_uc010yoa.1_Missense_Mutation_p.R330H	p.R330H	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			7	1079	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	330			Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.989G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541972	0.45280	.	.	ENSG00000143921	ENST00000272286	T	0.26810	1.71	4.9	2.71	0.32032	.	0.166697	0.52532	D	0.000071	T	0.16085	0.0387	L	0.29908	0.895	0.21105	N	0.999781	B;B	0.27853	0.191;0.12	B;B	0.23716	0.048;0.022	T	0.14868	-1.0457	10	0.36615	T	0.2	.	8.2977	0.31995	0.3031:0.0:0.6969:0.0	.	330;330	Q9H221-2;Q9H221	.;ABCG8_HUMAN	H	330	ENSP00000272286:R330H	ENSP00000272286:R330H	R	+	2	0	ABCG8	43952643	0.306000	0.24490	0.841000	0.33234	0.995000	0.86356	2.470000	0.45119	1.055000	0.40461	0.655000	0.94253	CGC		0.557	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		11	33	0	0	0	0.001368	0	11	33				
SIX3	6496	broad.mit.edu	37	2	45169936	45169936	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:45169936C>A	ENST00000260653.3	+	1	1035	c.693C>A	c.(691-693)ccC>ccA	p.P231P	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	231			P -> R (in HPE2; severely decreased repression activity on BMP2). {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)	p.P231P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCCCTACCCCAACCCCAGCA	0.652																																							uc002run.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(691-693)CCC>CCA		SIX homeobox 3							30.0	33.0	32.0					2																	45169936		2138	4204	6342	SO:0001819	synonymous_variant	6496				visual perception	nucleus		g.chr2:45169936C>A	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.693C>A	2.37:g.45169936C>A							p.P231P	NM_005413	NP_005404	O95343	SIX3_HUMAN			1	900	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	231		P -> R (in HPE2).	Homeobox.		D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	c.693C>A	CCDS1821.1																																																																																				0.652	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		4	22	1	0	0.000602214	0.000602	0.000754262	4	22				
SRBD1	55133	broad.mit.edu	37	2	45646961	45646961	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:45646961C>G	ENST00000263736.4	-	17	2184	c.2122G>C	c.(2122-2124)Gtg>Ctg	p.V708L	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.V227L	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	708					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.V708L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTAATATCCACTCCCACAAAG	0.398																																							uc002rus.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2122-2124)GTG>CTG		S1 RNA binding domain 1							166.0	151.0	156.0					2																	45646961		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45646961C>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2122G>C	2.37:g.45646961C>G	ENSP00000263736:p.Val708Leu					SRBD1_uc010yoc.1_Missense_Mutation_p.V227L	p.V708L	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		17	2198	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	708					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2122G>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541819	0.85917	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.59502	0.34;0.26	5.74	4.85	0.62838	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.82132	2.575	0.58432	D	0.999999	D	0.63046	0.992	P	0.58077	0.832	T	0.79487	-0.1783	10	0.87932	D	0	.	16.6627	0.85245	0.0:0.87:0.13:0.0	.	708	Q8N5C6	SRBD1_HUMAN	L	708;227	ENSP00000263736:V708L;ENSP00000441272:V227L	ENSP00000263736:V708L	V	-	1	0	SRBD1	45500465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	1.400000	0.46741	0.563000	0.77884	GTG		0.398	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		5	62	0	0	0	0.000602	0	5	62				
FSHR	2492	broad.mit.edu	37	2	49247236	49247236	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:49247236T>A	ENST00000406846.2	-	3	407	c.288A>T	c.(286-288)aaA>aaT	p.K96N	FSHR_ENST00000346173.3_Missense_Mutation_p.K96N|FSHR_ENST00000304421.4_Missense_Mutation_p.K96N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	96					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.K96N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TTTCATGTAATTTGGGAAGGT	0.418									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(286-288)AAA>AAT		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						312.0	318.0	316.0					2																	49247236		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49247236T>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.288A>T	2.37:g.49247236T>A	ENSP00000384708:p.Lys96Asn					FSHR_uc002rwx.2_Missense_Mutation_p.K96N|FSHR_uc010fbn.2_Missense_Mutation_p.K96N|FSHR_uc010fbo.1_RNA	p.K96N	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	362	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	96			LRR 2.|Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.288A>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	2.419	-0.333433	0.05278	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.3	-3.15	0.05233	.	0.237718	0.42172	N	0.000752	T	0.28928	0.0718	L	0.27053	0.805	0.80722	D	1	B;B;B	0.18166	0.01;0.026;0.015	B;B;B	0.15484	0.013;0.007;0.008	T	0.04103	-1.0977	9	.	.	.	.	6.2321	0.20740	0.0:0.4682:0.2382:0.2937	.	96;96;96	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	N	96	ENSP00000384708:K96N;ENSP00000333908:K96N;ENSP00000306780:K96N;ENSP00000415504:K96N	.	K	-	3	2	FSHR	49100740	0.838000	0.29461	0.671000	0.29857	0.381000	0.30169	-0.473000	0.06615	-0.848000	0.04163	-0.917000	0.02746	AAA		0.418	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			80	236	0	0	0	0.00361	0	80	236				
CCDC88A	55704	broad.mit.edu	37	2	55555429	55555429	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:55555429C>A	ENST00000436346.1	-	17	3839		c.e17+1		AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Splice_Site|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Splice_Site|CCDC88A_ENST00000263630.8_Splice_Site|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A						activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.?(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAATCACTTACTGTTTTAAGT	0.259																																							uc002ryv.2		NA																	2	Unknown(2)		lung(2)	ovary(2)|skin(2)	4						c.e17+1		coiled-coil domain containing 88A isoform 1							26.0	25.0	25.0					2																	55555429		2198	4287	6485	SO:0001630	splice_region_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55555429C>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2997+1G>T	2.37:g.55555429C>A						CCDC88A_uc010yoz.1_Splice_Site_p.T999_splice|CCDC88A_uc010ypa.1_Splice_Site_p.T998_splice|CCDC88A_uc002ryu.2_Splice_Site_p.T281_splice|CCDC88A_uc002rys.2_Intron|CCDC88A_uc002ryw.2_Splice_Site_p.T282_splice|CCDC88A_uc010fby.1_Intron	p.T998_splice	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			17	3836	-								A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Splice_Site	SNP	ENST00000436346.1	37	c.2994_splice		.	.	.	.	.	.	.	.	.	.	C	24.4	4.523944	0.85600	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576;ENST00000456975	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5816	0.99390	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC88A	55408933	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.550000	0.82173	2.873000	0.98535	0.644000	0.83932	.		0.259	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	Intron	4	10	1	0	0.00024832	0.000248	0.000325365	4	10				
USP34	9736	broad.mit.edu	37	2	61505300	61505300	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:61505300C>G	ENST00000398571.2	-	41	5509	c.5433G>C	c.(5431-5433)caG>caC	p.Q1811H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1811					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.Q1811H(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)			TAACACTTACCTGTCCTTCCC	0.348																																							uc002sbe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(5431-5433)CAG>CAC		ubiquitin specific protease 34							89.0	76.0	80.0					2																	61505300		1869	4096	5965	SO:0001630	splice_region_variant	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.chr2:61505300C>G	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.5433+1G>C	2.37:g.61505300C>G						USP34_uc002sbf.2_5'UTR	p.Q1811H	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		41	5455	-			1811					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.5433G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.245230	0.39697	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.04317	3.76;3.65	5.48	4.61	0.57282	Armadillo-type fold (1);	0.121086	0.56097	D	0.000025	T	0.08758	0.0217	M	0.75447	2.3	0.50313	D	0.999869	B	0.21821	0.061	B	0.15870	0.014	T	0.02885	-1.1098	10	0.52906	T	0.07	.	12.4355	0.55596	0.0:0.9222:0.0:0.0778	.	1811	Q70CQ2	UBP34_HUMAN	H	1659;1659;1811;89	ENSP00000381577:Q1811H;ENSP00000410559:Q89H	ENSP00000263989:Q1659H	Q	-	3	2	USP34	61358804	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.569000	0.60865	1.325000	0.45301	0.563000	0.77884	CAG		0.348	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		Missense_Mutation	5	18	0	0	0	0.000602	0	5	18				
FAM161A	84140	broad.mit.edu	37	2	62054330	62054330	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:62054330C>A	ENST00000405894.3	-	5	1848	c.1747G>T	c.(1747-1749)Gat>Tat	p.D583Y	FAM161A_ENST00000404929.1_Missense_Mutation_p.D639Y	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	583					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.D639Y(1)|p.D583Y(1)|p.D474Y(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACAAACTCATCAGATATTCCT	0.348																																							uc010ypo.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(1)	3						c.(1747-1749)GAT>TAT		hypothetical protein LOC84140							185.0	168.0	173.0					2																	62054330		1829	4095	5924	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62054330C>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1747G>T	2.37:g.62054330C>A	ENSP00000385893:p.Asp583Tyr					FAM161A_uc002sbm.3_Missense_Mutation_p.D639Y|FAM161A_uc002sbn.3_Missense_Mutation_p.D393Y|FAM161A_uc010fcm.1_RNA	p.D583Y	NM_032180	NP_115556	Q3B820	F161A_HUMAN			5	1849	-			583					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.1747G>T	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459725	0.84317	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.28069	2.37;1.63	6.02	6.02	0.97574	.	0.312551	0.22536	U	0.058792	T	0.44159	0.1280	L	0.27053	0.805	0.39558	D	0.969081	D;D	0.89917	1.0;0.996	D;D	0.68192	0.956;0.935	T	0.36841	-0.9731	10	0.66056	D	0.02	.	17.4512	0.87592	0.0:1.0:0.0:0.0	.	583;639	Q3B820;Q3B820-3	F161A_HUMAN;.	Y	639;583	ENSP00000385158:D639Y;ENSP00000385893:D583Y	ENSP00000385158:D639Y	D	-	1	0	FAM161A	61907834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.061000	0.49963	2.859000	0.98148	0.544000	0.68410	GAT		0.348	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		28	78	1	0	3.96558e-24	0.004656	7.91723e-24	28	78				
ARHGAP25	9938	broad.mit.edu	37	2	69049695	69049695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:69049695C>A	ENST00000295381.3	+	10	1840	c.1421C>A	c.(1420-1422)tCa>tAa	p.S474*	ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.S467*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.S468*|ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.S168*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.S475*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.S435*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	474					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.S468L(1)|p.S475L(1)|p.S475*(1)|p.S468*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCGCCTTCCTCAGAGGCTAAG	0.493																																							uc002seu.2		NA																	4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(2)|endometrium(2)	ovary(2)|breast(2)	4						c.(1420-1422)TCA>TAA		Rho GTPase activating protein 25 isoform a							92.0	91.0	92.0					2																	69049695		2203	4300	6503	SO:0001587	stop_gained	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69049695C>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1421C>A	2.37:g.69049695C>A	ENSP00000295381:p.Ser474*					ARHGAP25_uc010fdg.2_Nonsense_Mutation_p.S475*|ARHGAP25_uc010yql.1_Nonsense_Mutation_p.S435*|ARHGAP25_uc002sew.2_Nonsense_Mutation_p.S467*|ARHGAP25_uc002sex.2_Nonsense_Mutation_p.S468*|ARHGAP25_uc002sey.2_Nonsense_Mutation_p.S201*	p.S474*	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			10	1785	+			474					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Nonsense_Mutation	SNP	ENST00000295381.3	37	c.1421C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.190829|8.190829	0.98699|0.98699	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000497259|ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000543533;ENST00000479844	.|.	.|.	.|.	5.38|5.38	4.49|4.49	0.54785|0.54785	.|.	.|1.723520	.|0.02766	.|N	.|0.119100	T|.	0.20536|.	0.0494|.	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999948|0.999948	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14062|.	-1.0486|.	4|.	.|0.02654	.|T	.|1	.|.	13.7707|13.7707	0.63023|0.63023	0.0:0.8465:0.1535:0.0|0.0:0.8465:0.1535:0.0	.|.	.|.	.|.	.|.	K|X	334|474;475;435;467;468;468;459;168	.|.	.|ENSP00000295381:S474X	Q|S	+|+	1|2	0|0	ARHGAP25|ARHGAP25	68903199|68903199	0.001000|0.001000	0.12720|0.12720	0.085000|0.085000	0.20634|0.20634	0.953000|0.953000	0.61014|0.61014	1.201000|1.201000	0.32259|0.32259	1.356000|1.356000	0.45884|0.45884	0.557000|0.557000	0.71058|0.71058	CAG|TCA		0.493	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		18	68	1	0	8.28177e-16	0.007413	1.60274e-15	18	68				
BMP10	27302	broad.mit.edu	37	2	69098246	69098246	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:69098246G>T	ENST00000295379.1	-	1	403	c.245C>A	c.(244-246)cCa>cAa	p.P82Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	82					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.P82Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATGTACTCTGGTGGGTCCAC	0.458																																							uc002sez.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(244-246)CCA>CAA		bone morphogenetic protein 10 preproprotein							172.0	163.0	166.0					2																	69098246		2203	4300	6503	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69098246G>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.245C>A	2.37:g.69098246G>T	ENSP00000295379:p.Pro82Gln						p.P82Q	NM_014482	NP_055297	O95393	BMP10_HUMAN			1	404	-			82					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.245C>A	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570313	0.86542	.	.	ENSG00000163217	ENST00000295379	D	0.90261	-2.64	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95649	0.8705	10	0.87932	D	0	.	18.015	0.89236	0.0:0.0:1.0:0.0	.	82	O95393	BMP10_HUMAN	Q	82	ENSP00000295379:P82Q	ENSP00000295379:P82Q	P	-	2	0	BMP10	68951750	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.601000	0.98297	2.808000	0.96608	0.655000	0.94253	CCA		0.458	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		9	69	1	0	0.00448238	0.004482	0.00529312	9	69				
LOXL3	84695	broad.mit.edu	37	2	74763528	74763528	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:74763528C>A	ENST00000264094.3	-	6	1054	c.983G>T	c.(982-984)tGg>tTg	p.W328L	LOXL3_ENST00000409549.1_Missense_Mutation_p.W328L|LOXL3_ENST00000409986.1_Missense_Mutation_p.W183L|LOXL3_ENST00000393937.2_Missense_Mutation_p.W183L|LOXL3_ENST00000409249.1_Missense_Mutation_p.W328L	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	328	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.W328L(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GACTGTGCCCCATGTGCTGGC	0.642																																							uc002smp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(982-984)TGG>TTG		lysyl oxidase-like 3 precursor							60.0	56.0	57.0					2																	74763528		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763528C>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.983G>T	2.37:g.74763528C>A	ENSP00000264094:p.Trp328Leu					LOXL3_uc002smo.1_5'UTR|LOXL3_uc010ffm.1_Missense_Mutation_p.W328L|LOXL3_uc002smq.1_Missense_Mutation_p.W183L|LOXL3_uc010ffn.1_Missense_Mutation_p.W183L	p.W328L	NM_032603	NP_115992	P58215	LOXL3_HUMAN			6	1055	-			328			SRCR 3.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.983G>T	CCDS1953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.637691|4.637691	0.87760|0.87760	.|.	.|.	ENSG00000115318|ENSG00000115318	ENST00000420535|ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986	.|T;T;T;T;T	.|0.53640	.|0.61;0.61;0.61;0.61;0.61	4.76|4.76	4.76|4.76	0.60689|0.60689	.|Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80747|0.80747	0.4682|0.4682	H|H	0.98542|0.98542	4.26|4.26	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|0.997;1.0;1.0;0.994	.|D;D;D;D	.|0.97110	.|0.968;1.0;1.0;0.988	D|D	0.88074|0.88074	0.2802|0.2802	5|10	.|0.87932	.|D	.|0	.|.	15.6368|15.6368	0.76961|0.76961	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|183;328;183;328	.|B9A025;E7END4;Q6IPL7;P58215	.|.;.;.;LOXL3_HUMAN	I|L	54|328;328;183;328;183	.|ENSP00000264094:W328L;ENSP00000387103:W328L;ENSP00000377512:W183L;ENSP00000386696:W328L;ENSP00000386545:W183L	.|ENSP00000264094:W328L	M|W	-|-	3|2	0|0	LOXL3|LOXL3	74617036|74617036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.554000|7.554000	0.82212|0.82212	2.612000|2.612000	0.88384|0.88384	0.563000|0.563000	0.77884|0.77884	ATG|TGG		0.642	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		20	35	1	0	1.37657e-19	0.001882	2.71019e-19	20	35				
DOK1	1796	broad.mit.edu	37	2	74782721	74782721	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:74782721C>T	ENST00000233668.5	+	3	1049	c.380C>T	c.(379-381)gCg>gTg	p.A127V	LOXL3_ENST00000409549.1_5'Flank|LOXL3_ENST00000409986.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000409429.1_5'UTR|DOK1_ENST00000340004.6_Missense_Mutation_p.A127V|LOXL3_ENST00000393937.2_5'Flank|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000409249.1_5'Flank|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	127					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.A127V(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGGACTCTGGCGCCTACCGAT	0.592																																					Esophageal Squamous(36;520 860 12502 33616 51270)	Esophageal Squamous(36;520 860 12502 33616 51270)	uc002sms.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(379-381)GCG>GTG		docking protein 1							51.0	51.0	51.0					2																	74782721		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74782721C>T	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.380C>T	2.37:g.74782721C>T	ENSP00000233668:p.Ala127Val					LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_5'UTR|DOK1_uc010ffo.2_5'UTR|DOK1_uc002smt.2_5'UTR|DOK1_uc002smu.2_5'UTR|DOK1_uc010yrz.1_Missense_Mutation_p.A116V|DOK1_uc002smv.2_5'UTR|DOK1_uc002smw.1_5'UTR	p.A127V	NM_001381	NP_001372	Q99704	DOK1_HUMAN			3	402	+			127					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.380C>T	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578767	0.28180	.	.	ENSG00000115325	ENST00000233668;ENST00000340004	T	0.33438	1.41	4.67	1.9	0.25705	.	0.676377	0.15028	N	0.284639	T	0.22975	0.0555	N	0.25647	0.755	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.48166	0.569;0.569	T	0.08269	-1.0730	10	0.46703	T	0.11	-4.4637	4.6936	0.12793	0.0:0.6242:0.1792:0.1966	.	116;127	B4DJN1;Q99704	.;DOK1_HUMAN	V	127	ENSP00000233668:A127V	ENSP00000233668:A127V	A	+	2	0	DOK1	74636229	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-0.409000	0.07160	0.218000	0.20820	-0.438000	0.05819	GCG		0.592	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		4	36	0	0	0	0.000248	0	4	36				
REG1B	5968	broad.mit.edu	37	2	79314050	79314050	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:79314050T>G	ENST00000305089.3	-	3	151	c.71A>C	c.(70-72)gAg>gCg	p.E24A		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	24					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.E24A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGTCTGGGACTCCTGGCCTGG	0.488																																							uc002sny.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(70-72)GAG>GCG		regenerating islet-derived 1 beta precursor							98.0	104.0	102.0					2																	79314050		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79314050T>G		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.71A>C	2.37:g.79314050T>G	ENSP00000303206:p.Glu24Ala					REG1B_uc010ffv.1_Missense_Mutation_p.E24A|REG1B_uc010ffw.2_Missense_Mutation_p.E24A	p.E24A	NM_006507	NP_006498	P48304	REG1B_HUMAN			3	183	-			24						Missense_Mutation	SNP	ENST00000305089.3	37	c.71A>C	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	t	10.42	1.344364	0.24339	.	.	ENSG00000172023	ENST00000305089	T	0.04119	3.7	3.58	2.36	0.29203	.	0.817704	0.10012	N	0.727077	T	0.06142	0.0159	M	0.70275	2.135	0.09310	N	1	P;P	0.43542	0.81;0.705	B;B	0.37346	0.247;0.149	T	0.35500	-0.9786	10	0.19147	T	0.46	.	5.9934	0.19480	0.2309:0.0:0.0:0.7691	.	24;24	Q6ICS1;P48304	.;REG1B_HUMAN	A	24	ENSP00000303206:E24A	ENSP00000303206:E24A	E	-	2	0	REG1B	79167558	0.002000	0.14202	0.011000	0.14972	0.090000	0.18270	0.499000	0.22546	0.525000	0.28522	0.459000	0.35465	GAG		0.488	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		5	66	0	0	0	0.000602	0	5	66				
REG1A	5967	broad.mit.edu	37	2	79348008	79348008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:79348008C>A	ENST00000233735.1	+	2	124	c.21C>A	c.(19-21)taC>taA	p.Y7*		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	7				SSY -> NSF (in Ref. 3; AAA60546/ AAA60545). {ECO:0000305}.	positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.Y7*(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCAGCTCATACTTCATGCTGA	0.463																																							uc002snz.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(19-21)TAC>TAA		regenerating islet-derived 1 alpha precursor							118.0	99.0	105.0					2																	79348008		2203	4300	6503	SO:0001587	stop_gained	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348008C>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.21C>A	2.37:g.79348008C>A	ENSP00000233735:p.Tyr7*					REG1A_uc010ffx.1_Nonsense_Mutation_p.Y7*|REG1A_uc010ysd.1_Nonsense_Mutation_p.Y7*	p.Y7*	NM_002909	NP_002900	P05451	REG1A_HUMAN			2	124	+			7	SSY -> NSF (in Ref. 3; AAA60546/ AAA60545).				P11379|Q4ZG28	Nonsense_Mutation	SNP	ENST00000233735.1	37	c.21C>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	18.85	3.711068	0.68730	.	.	ENSG00000115386	ENST00000233735	.	.	.	3.15	0.176	0.15049	.	0.983020	0.08241	N	0.976038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2176	0.06704	0.2092:0.56:0.0:0.2308	.	.	.	.	X	7	.	ENSP00000233735:Y7X	Y	+	3	2	REG1A	79201516	0.000000	0.05858	0.001000	0.08648	0.207000	0.24258	-0.104000	0.10923	0.015000	0.14971	0.557000	0.71058	TAC		0.463	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		8	42	1	0	0.000157383	0.00308	0.000211083	8	42				
LRRTM1	347730	broad.mit.edu	37	2	80529463	80529463	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:80529463C>A	ENST00000295057.3	-	2	2138	c.1482G>T	c.(1480-1482)ccG>ccT	p.P494P	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.P494P	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	494					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P494P(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAATGTGGTTCGGTTTGTAAT	0.547										HNSCC(69;0.2)																													uc002sok.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1480-1482)CCG>CCT		leucine rich repeat transmembrane neuronal 1							141.0	115.0	124.0					2																	80529463		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529463C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1482G>T	2.37:g.80529463C>A		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.P494P	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1752	-			494			Cytoplasmic (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1482G>T	CCDS1966.1																																																																																				0.547	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		10	30	1	0	3.86212e-05	0.008291	5.4165e-05	10	30				
DUSP2	1844	broad.mit.edu	37	2	96809566	96809566	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:96809566T>C	ENST00000288943.4	-	4	1026	c.941A>G	c.(940-942)cAc>cGc	p.H314R	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	314					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	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)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.H314R(1)		NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				ACCACCTCAGTGACACAGCAC	0.632																																							uc002svk.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(940-942)CAC>CGC		dual specificity phosphatase 2							39.0	38.0	38.0					2																	96809566		2203	4300	6503	SO:0001583	missense	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96809566T>C	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.941A>G	2.37:g.96809566T>C	ENSP00000288943:p.His314Arg						p.H314R	NM_004418	NP_004409	Q05923	DUS2_HUMAN			4	1027	-		Ovarian(717;0.0228)	314					Q53T45	Missense_Mutation	SNP	ENST00000288943.4	37	c.941A>G	CCDS2016.1	.	.	.	.	.	.	.	.	.	.	t	14.68	2.606742	0.46527	.	.	ENSG00000158050	ENST00000288943	T	0.02280	4.36	4.38	4.38	0.52667	.	0.321958	0.26314	N	0.025096	T	0.01523	0.0049	N	0.08118	0	0.26291	N	0.978128	B	0.09022	0.002	B	0.09377	0.004	T	0.42649	-0.9439	10	0.66056	D	0.02	.	8.0305	0.30461	0.0:0.0:0.2067:0.7933	.	314	Q05923	DUS2_HUMAN	R	314	ENSP00000288943:H314R	ENSP00000288943:H314R	H	-	2	0	DUSP2	96173293	0.997000	0.39634	1.000000	0.80357	0.898000	0.52572	2.866000	0.48420	1.861000	0.53984	0.450000	0.29827	CAC		0.632	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		4	12	0	0	0	0.000248	0	4	12				
ARID5A	10865	broad.mit.edu	37	2	97217799	97217799	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:97217799A>T	ENST00000357485.3	+	7	1612	c.1534A>T	c.(1534-1536)Act>Tct	p.T512S	ARID5A_ENST00000454558.2_Missense_Mutation_p.T444S	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	512					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T512S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCTGAACTTCACTGGCACCCC	0.716																																							uc002swe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1534-1536)ACT>TCT		AT rich interactive domain 5A							28.0	34.0	32.0					2																	97217799		2200	4299	6499	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97217799A>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1534A>T	2.37:g.97217799A>T	ENSP00000350078:p.Thr512Ser					ARID5A_uc010yuq.1_Missense_Mutation_p.T460S|ARID5A_uc002swf.2_Missense_Mutation_p.T348S|ARID5A_uc002swg.2_Missense_Mutation_p.T460S	p.T512S	NM_212481	NP_997646	Q03989	ARI5A_HUMAN			7	1634	+			512					Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.1534A>T	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	A	1.344	-0.593336	0.03771	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.62364	0.03	4.78	-0.9	0.10544	.	0.805572	0.10753	N	0.638052	T	0.43077	0.1231	L	0.28274	0.84	0.09310	N	1	B;B;B	0.15141	0.0;0.002;0.012	B;B;B	0.15870	0.002;0.004;0.014	T	0.24154	-1.0168	10	0.20519	T	0.43	-0.0106	7.8632	0.29522	0.5787:0.0:0.4213:0.0	.	512;444;512	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	S	512;512;444	ENSP00000350078:T512S	ENSP00000350078:T512S	T	+	1	0	ARID5A	96581526	0.000000	0.05858	0.006000	0.13384	0.035000	0.12851	0.434000	0.21494	-0.209000	0.10156	-0.917000	0.02746	ACT		0.716	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		6	58	0	0	0	0.001984	0	6	58				
MFSD9	84804	broad.mit.edu	37	2	103335231	103335231	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:103335231C>A	ENST00000258436.5	-	6	1116	c.1073G>T	c.(1072-1074)aGc>aTc	p.S358I	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	358					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S358I(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGTGAGTATGCTGGAATGCAG	0.607																																							uc002tcb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1072-1074)AGC>ATC		major facilitator superfamily domain containing							57.0	52.0	54.0					2																	103335231		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335231C>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1073G>T	2.37:g.103335231C>A	ENSP00000258436:p.Ser358Ile					MFSD9_uc010fja.2_RNA	p.S358I	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			6	1141	-			358					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.1073G>T	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344122	0.41498	.	.	ENSG00000135953	ENST00000258436	T	0.56611	0.45	5.01	3.19	0.36642	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.303502	0.41194	D	0.000924	T	0.60301	0.2258	M	0.74258	2.255	0.39046	D	0.960237	D	0.53885	0.963	P	0.54590	0.756	T	0.59558	-0.7432	10	0.32370	T	0.25	-20.6134	7.762	0.28957	0.0:0.7155:0.1344:0.1502	.	358	Q8NBP5	MFSD9_HUMAN	I	358	ENSP00000258436:S358I	ENSP00000258436:S358I	S	-	2	0	MFSD9	102701663	0.996000	0.38824	0.510000	0.27712	0.179000	0.23085	3.053000	0.49901	0.624000	0.30286	0.650000	0.86243	AGC		0.607	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		14	26	1	0	3.27435e-08	0.00245	5.51879e-08	14	26				
RGPD3	653489	broad.mit.edu	37	2	107041516	107041516	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:107041516A>G	ENST00000409886.3	-	20	2994	c.2907T>C	c.(2905-2907)acT>acC	p.T969T	RGPD3_ENST00000304514.7_Silent_p.T969T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	969					protein targeting to Golgi (GO:0000042)			p.T969T(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAAATGTAAAAGTGCTACTTG	0.408																																							uc010ywi.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2905-2907)ACT>ACC		RANBP2-like and GRIP domain containing 3							11.0	24.0	20.0					2																	107041516		652	1507	2159	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107041516A>G		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2907T>C	2.37:g.107041516A>G							p.T969T	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			20	2964	-			969					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2907T>C	CCDS46379.1																																																																																				0.408	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		19	142	0	0	0	0.002445	0	19	142				
SEPT10	151011	broad.mit.edu	37	2	110325410	110325410	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:110325410C>T	ENST00000397712.2	-	6	1122	c.744G>A	c.(742-744)aaG>aaA	p.K248K	SEPT10_ENST00000356688.4_Silent_p.K248K|SEPT10_ENST00000415095.1_Silent_p.K248K|SEPT10_ENST00000397714.2_Silent_p.K225K|SEPT10_ENST00000334001.6_Silent_p.K115K|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000545389.1_Silent_p.K81K|SEPT10_ENST00000437928.1_Silent_p.K233K	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	248	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.K248K(1)|p.K225K(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CAGCGTTGACCTTAGCAATAG	0.373																																							uc002tew.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(742-744)AAG>AAA		septin 10 isoform 1							129.0	119.0	122.0					2																	110325410		1975	4179	6154	SO:0001819	synonymous_variant	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110325410C>T	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.744G>A	2.37:g.110325410C>T						SEPT10_uc010ywu.1_Silent_p.K81K|SEPT10_uc002tex.2_Silent_p.K225K|SEPT10_uc002tey.2_Silent_p.K248K|SEPT10_uc010ywv.1_Silent_p.K114K|SEPT10_uc002tev.1_Silent_p.K55K|SEPT10_uc010fjo.2_RNA|SEPT10_uc002tez.1_Silent_p.K23K	p.K248K	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			6	1123	-			248					B3KRQ9|Q86VP5|Q9HAH6	Silent	SNP	ENST00000397712.2	37	c.744G>A	CCDS46383.1																																																																																				0.373	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		5	53	0	0	0	0.000602	0	5	53				
NPHP1	4867	broad.mit.edu	37	2	110881425	110881425	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:110881425A>T	ENST00000393272.3	-	20	2239	c.2142T>A	c.(2140-2142)ttT>ttA	p.F714L	NPHP1_ENST00000417665.1_Missense_Mutation_p.F693L|NPHP1_ENST00000316534.4_Missense_Mutation_p.F715L|AC013268.1_ENST00000390802.1_RNA|NPHP1_ENST00000445609.2_Missense_Mutation_p.F659L|NPHP1_ENST00000355301.4_Missense_Mutation_p.F596L	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	714					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.F715L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CTGAAAGGTCAAAAGGTTCAT	0.502																																							uc002tfn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2140-2142)TTT>TTA		nephrocystin 1 isoform 2							105.0	93.0	97.0					2																	110881425		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110881425A>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.2142T>A	2.37:g.110881425A>T	ENSP00000376953:p.Phe714Leu					NPHP1_uc002tfm.3_Missense_Mutation_p.F659L|NPHP1_uc002tfl.3_Missense_Mutation_p.F715L|NPHP1_uc002tfo.3_Missense_Mutation_p.F596L|NPHP1_uc010ywx.1_Missense_Mutation_p.F658L	p.F714L	NM_207181	NP_997064	O15259	NPHP1_HUMAN			20	2236	-			714					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.2142T>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434579	0.83885	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.73363	-0.03;-0.02;-0.03;0.03;-0.74	5.7	-2.88	0.05682	.	0.000000	0.85682	D	0.000000	D	0.83018	0.5163	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;0.999	D;D;D;D;D	0.91635	0.997;0.997;0.993;0.999;0.994	T	0.81616	-0.0852	10	0.87932	D	0	-22.6497	11.4264	0.50014	0.5617:0.0:0.4383:0.0	.	658;596;714;659;715	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	L	715;659;714;596;693	ENSP00000313169:F715L;ENSP00000389879:F659L;ENSP00000376953:F714L;ENSP00000347452:F596L;ENSP00000402176:F693L	ENSP00000313169:F715L	F	-	3	2	NPHP1	110238714	0.996000	0.38824	0.956000	0.39512	0.948000	0.59901	0.325000	0.19628	-0.785000	0.04522	0.379000	0.24179	TTT		0.502	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		6	33	0	0	0	0.001168	0	6	33				
MYO7B	4648	broad.mit.edu	37	2	128351172	128351172	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:128351172C>T	ENST00000409816.2	+	17	2229	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	MYO7B_ENST00000428314.1_Missense_Mutation_p.R733W|MYO7B_ENST00000389524.4_Missense_Mutation_p.R733W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	733	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R733W(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGTGTGGCTGCGGACAGACAA	0.607																																							uc002top.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2197-2199)CGG>TGG		myosin VIIB							84.0	95.0	91.0					2																	128351172		1976	4156	6132	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128351172C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2197C>T	2.37:g.128351172C>T	ENSP00000386461:p.Arg733Trp						p.R733W	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	18	2250	+	Colorectal(110;0.1)		733					Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2197C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887587	0.52014	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87256	-2.23;-2.23;-2.23	4.78	1.87	0.25490	Myosin head, motor domain (2);	0.847047	0.10488	N	0.668685	D	0.84238	0.5428	L	0.27053	0.805	0.22050	N	0.999391	D	0.64830	0.994	P	0.53185	0.72	T	0.73316	-0.4021	10	0.62326	D	0.03	.	8.4191	0.32690	0.1506:0.136:0.7134:0.0	.	733	Q6PIF6	MYO7B_HUMAN	W	733	ENSP00000374175:R733W;ENSP00000415090:R733W;ENSP00000386461:R733W	ENSP00000374175:R733W	R	+	1	2	MYO7B	128067642	1.000000	0.71417	0.829000	0.32907	0.375000	0.29983	1.365000	0.34182	0.529000	0.28599	-0.311000	0.09066	CGG		0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		5	55	0	0	0	0.001168	0	5	55				
LRP1B	53353	broad.mit.edu	37	2	141245256	141245256	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:141245256T>C	ENST00000389484.3	-	58	10144	c.9173A>G	c.(9172-9174)tAt>tGt	p.Y3058C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3058					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.Y3058C(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)		ATCGATCCAATAGATGAATTC	0.308										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.(9172-9174)TAT>TGT		low density lipoprotein-related protein 1B							85.0	88.0	87.0					2																	141245256		2203	4295	6498	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245256T>C	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.9173A>G	2.37:g.141245256T>C	ENSP00000374135:p.Tyr3058Cys	TSP Lung(27;0.18)					p.Y3058C	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)	58	10145	-		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)	3058			Extracellular (Potential).|LDL-receptor class B 28.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9173A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522773	0.85600	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99304	-5.72	5.61	5.61	0.85477	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000002	D	0.99399	0.9788	M	0.84156	2.68	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98869	1.0765	10	0.66056	D	0.02	.	15.806	0.78513	0.0:0.0:0.0:1.0	.	3058	Q9NZR2	LRP1B_HUMAN	C	3058;2996	ENSP00000374135:Y3058C	ENSP00000374135:Y3058C	Y	-	2	0	LRP1B	140961726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.992000	0.88273	2.135000	0.66039	0.528000	0.53228	TAT		0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	46	0	0	0	0.001855	0	13	46				
LRP1B	53353	broad.mit.edu	37	2	141607683	141607683	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:141607683C>G	ENST00000389484.3	-	29	5898	c.4927G>C	c.(4927-4929)Gtt>Ctt	p.V1643L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1643					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.V1643L(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)		CTTGAAATAACAGTTTCTAAC	0.299										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.(4927-4929)GTT>CTT		low density lipoprotein-related protein 1B							136.0	142.0	140.0					2																	141607683		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141607683C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4927G>C	2.37:g.141607683C>G	ENSP00000374135:p.Val1643Leu	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.V825L	p.V1643L	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)	29	5899	-		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)	1643			Extracellular (Potential).|LDL-receptor class B 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4927G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578731	0.46006	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94457	-3.43	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.171632	0.38897	U	0.001526	D	0.90041	0.6890	N	0.20986	0.625	0.38497	D	0.948139	B	0.29531	0.247	B	0.34652	0.187	D	0.88524	0.3098	10	0.34782	T	0.22	.	12.797	0.57564	0.0:0.9148:0.0:0.0852	.	1643	Q9NZR2	LRP1B_HUMAN	L	1643;1581	ENSP00000374135:V1643L	ENSP00000374135:V1643L	V	-	1	0	LRP1B	141324153	0.985000	0.35326	1.000000	0.80357	0.691000	0.40173	2.138000	0.42140	2.507000	0.84556	0.313000	0.20887	GTT		0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	74	0	0	0	0.000248	0	3	74				
LRP1B	53353	broad.mit.edu	37	2	141625694	141625694	+	Missense_Mutation	SNP	C	C	A	rs202036844		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:141625694C>A	ENST00000389484.3	-	26	5279	c.4308G>T	c.(4306-4308)gaG>gaT	p.E1436D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1436					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.E1436D(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)		CTATCCTTTTCTCAAAGTGGT	0.373										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.(4306-4308)GAG>GAT		low density lipoprotein-related protein 1B							110.0	103.0	105.0					2																	141625694		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625694C>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.4308G>T	2.37:g.141625694C>A	ENSP00000374135:p.Glu1436Asp	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.E618D	p.E1436D	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)	26	5280	-		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)	1436			Extracellular (Potential).|LDL-receptor class B 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4308G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195119	0.38806	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.90955	-2.76;-2.76	5.83	-1.96	0.07525	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	L	0.43646	1.37	0.40955	D	0.984574	B;P	0.52316	0.058;0.952	B;B	0.41510	0.034;0.359	T	0.79055	-0.1960	10	0.22706	T	0.39	.	12.9164	0.58209	0.0:0.4913:0.0:0.5087	.	619;1436	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	D	1436;1374;581	ENSP00000374135:E1436D;ENSP00000413239:E581D	ENSP00000374135:E1436D	E	-	3	2	LRP1B	141342164	0.918000	0.31147	0.992000	0.48379	0.991000	0.79684	-0.013000	0.12678	-0.323000	0.08602	0.655000	0.94253	GAG		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	56	1	0	7.48243e-07	0.006214	1.17892e-06	9	56				
PABPC1P2	728773	broad.mit.edu	37	2	147346327	147346327	+	IGR	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:147346327A>T								RNU7-2P (443542 upstream) : AC103881.1 (248989 downstream)														p.R263*(1)									TCAGAGTGTCAGACCTTATCC	0.522																																							uc002twf.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(787-789)AGA>TGA		RecName: Full=Putative protein PABPC1-like; AltName: Full=Polyadenylate-binding protein pseudogene 2;																																				SO:0001628	intergenic_variant	728773							g.chr2:147346327A>T																													2.37:g.147346327A>T							p.R263*	NR_026904						1	1703	+									Nonsense_Mutation	SNP		37	c.787A>T																																																																																				0	0.522									4	22	0	0	0	0.000248	0	4	22				
GPD2	2820	broad.mit.edu	37	2	157436299	157436299	+	Splice_Site	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:157436299A>T	ENST00000310454.6	+	16	2429	c.2057A>T	c.(2056-2058)cAg>cTg	p.Q686L	GPD2_ENST00000409125.4_Splice_Site_p.Q459L|GPD2_ENST00000438166.2_Splice_Site_p.Q686L|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000409674.1_Splice_Site_p.Q686L|GPD2_ENST00000496190.1_3'UTR	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	686	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.Q686L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GAATTTTTGCAGGTGAGTTGT	0.313																																							uc002tzf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2056-2058)CAG>CTG		glycerol-3-phosphate dehydrogenase 2,							58.0	59.0	59.0					2																	157436299		2202	4300	6502	SO:0001630	splice_region_variant	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157436299A>T		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.2058+1A>T	2.37:g.157436299A>T						GPD2_uc010zch.1_Missense_Mutation_p.Q459L|GPD2_uc002tzd.3_Missense_Mutation_p.Q686L|GPD2_uc002tze.1_RNA	p.Q686L	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			16	2417	+			686			EF-hand 2.		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.2057A>T	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894527	0.72639	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	6.07	6.07	0.98685	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	L	0.48362	1.52	0.80722	D	1	B	0.24426	0.103	B	0.21360	0.034	T	0.53913	-0.8371	10	0.44086	T	0.13	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	686	P43304	GPDM_HUMAN	L	686;459;686;686	ENSP00000308610:Q686L;ENSP00000386484:Q459L;ENSP00000409708:Q686L;ENSP00000386425:Q686L	ENSP00000308610:Q686L	Q	+	2	0	GPD2	157144545	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.207000	0.95064	2.330000	0.79161	0.477000	0.44152	CAG		0.313	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		Missense_Mutation	6	17	0	0	0	0.001984	0	6	17				
FAP	2191	broad.mit.edu	37	2	163030285	163030285	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:163030285G>A	ENST00000188790.4	-	23	2189	c.1982C>T	c.(1981-1983)aCa>aTa	p.T661I	AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Missense_Mutation_p.T636I	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.T661I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAATCTCTCTGTGTAGACAGA	0.313																																							uc002ucd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1981-1983)ACA>ATA		fibroblast activation protein, alpha subunit							136.0	146.0	143.0					2																	163030285		2203	4299	6502	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163030285G>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1982C>T	2.37:g.163030285G>A	ENSP00000188790:p.Thr661Ile					FAP_uc010fpc.2_Missense_Mutation_p.T210I|FAP_uc010zct.1_Missense_Mutation_p.T636I|FAP_uc010fpd.2_Missense_Mutation_p.T140I	p.T661I	NM_004460	NP_004451	Q12884	SEPR_HUMAN			23	2190	-			661			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1982C>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659686	0.67586	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.36157	1.27;1.27	5.1	5.1	0.69264	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.050862	0.85682	D	0.000000	T	0.73079	0.3541	H	0.96111	3.77	0.58432	D	0.999992	D;D;D	0.67145	0.996;0.994;0.977	D;D;D	0.74348	0.983;0.968;0.967	T	0.82965	-0.0195	10	0.87932	D	0	-22.2885	18.8718	0.92319	0.0:0.0:1.0:0.0	.	636;140;661	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	I	661;636	ENSP00000188790:T661I;ENSP00000411391:T636I	ENSP00000188790:T661I	T	-	2	0	FAP	162738531	1.000000	0.71417	0.997000	0.53966	0.826000	0.46750	7.252000	0.78309	2.544000	0.85801	0.655000	0.94253	ACA		0.313	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			17	111	0	0	0	0.008871	0	17	111				
XIRP2	129446	broad.mit.edu	37	2	168102148	168102148	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:168102148G>A	ENST00000409195.1	+	9	4335	c.4246G>A	c.(4246-4248)Ggc>Agc	p.G1416S	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1194S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1416S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1241					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.G1416S(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						TATACAAGGTGGCAATGTAAA	0.333																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(4246-4248)GGC>AGC		xin actin-binding repeat containing 2 isoform 1							59.0	53.0	55.0					2																	168102148		1835	4089	5924	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102148G>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.4246G>A	2.37:g.168102148G>A	ENSP00000386840:p.Gly1416Ser					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1241S|XIRP2_uc010fpq.2_Missense_Mutation_p.G1194S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.G1416S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4264	+			1241			Xin 25.		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.4246G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257483	0.59321	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03242	4.0;4.0;4.0	5.67	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.989	T	0.00645	-1.1629	10	0.62326	D	0.03	-4.4779	13.549	0.61721	0.0763:0.0:0.9236:0.0	.	1241;1241;1194	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	1416;1416;1194	ENSP00000386840:G1416S;ENSP00000295237:G1416S;ENSP00000387255:G1194S	ENSP00000295237:G1416S	G	+	1	0	XIRP2	167810394	1.000000	0.71417	0.996000	0.52242	0.527000	0.34593	9.471000	0.97696	1.402000	0.46780	0.563000	0.77884	GGC		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		10	24	0	0	0	0.006214	0	10	24				
XIRP2	129446	broad.mit.edu	37	2	168103039	168103039	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:168103039G>A	ENST00000409195.1	+	9	5226	c.5137G>A	c.(5137-5139)Gtc>Atc	p.V1713I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1491I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V1713I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1538					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.V1713I(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						AGGTGGTGATGTCAAACGTAC	0.338																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5137-5139)GTC>ATC		xin actin-binding repeat containing 2 isoform 1							141.0	135.0	137.0					2																	168103039		1881	4102	5983	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103039G>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.5137G>A	2.37:g.168103039G>A	ENSP00000386840:p.Val1713Ile					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V1538I|XIRP2_uc010fpq.2_Missense_Mutation_p.V1491I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.V1713I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5155	+			1538					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.5137G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.137847	0.37728	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04234	3.68;3.68;3.67	5.59	5.59	0.84812	.	0.060972	0.64402	D	0.000003	T	0.07954	0.0199	L	0.28694	0.88	0.38951	D	0.958346	P;P;P	0.51537	0.911;0.946;0.884	P;P;B	0.52646	0.51;0.705;0.361	T	0.31943	-0.9925	10	0.38643	T	0.18	-16.3521	11.8094	0.52173	0.0815:0.0:0.9185:0.0	.	1538;1538;1491	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	1713;1713;1491	ENSP00000386840:V1713I;ENSP00000295237:V1713I;ENSP00000387255:V1491I	ENSP00000295237:V1713I	V	+	1	0	XIRP2	167811285	1.000000	0.71417	0.996000	0.52242	0.765000	0.43378	2.120000	0.41968	2.642000	0.89623	0.650000	0.86243	GTC		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		3	29	0	0	0	0.004672	0	3	29				
TLK1	9874	broad.mit.edu	37	2	171910294	171910294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:171910294C>A	ENST00000431350.2	-	8	1113	c.709G>T	c.(709-711)Gga>Tga	p.G237*	TLK1_ENST00000360843.3_Nonsense_Mutation_p.G258*|TLK1_ENST00000521943.1_Nonsense_Mutation_p.G189*|TLK1_ENST00000442919.2_Nonsense_Mutation_p.G189*|TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000434911.2_Nonsense_Mutation_p.G141*			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	237					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.G189*(1)|p.G237*(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						TCTATACGTCCCTCCTTCTTT	0.328																																							uc002ugn.2		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(709-711)GGA>TGA		tousled-like kinase 1 isoform 1							184.0	197.0	193.0					2																	171910294		2203	4300	6503	SO:0001587	stop_gained	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.chr2:171910294C>A	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.709G>T	2.37:g.171910294C>A	ENSP00000411099:p.Gly237*					TLK1_uc002ugo.2_Nonsense_Mutation_p.G258*|TLK1_uc002ugp.2_Nonsense_Mutation_p.G189*|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Nonsense_Mutation_p.G141*|TLK1_uc002ugr.1_Nonsense_Mutation_p.G20*	p.G237*	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			8	1181	-			237			Potential.		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Nonsense_Mutation	SNP	ENST00000431350.2	37	c.709G>T	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	36	5.771680	0.96922	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911;ENST00000453628	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-23.8036	19.7417	0.96234	0.0:1.0:0.0:0.0	.	.	.	.	X	189;237;258;189;141;162	.	ENSP00000354089:G258X	G	-	1	0	TLK1	171618540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.665000	0.90641	0.650000	0.86243	GGA		0.328	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		36	121	1	0	7.62715e-32	0.007835	1.53082e-31	36	121				
OLA1	29789	broad.mit.edu	37	2	175006616	175006616	+	Silent	SNP	G	G	A	rs570495275		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:175006616G>A	ENST00000409546.1	-	5	1176	c.546C>T	c.(544-546)ccC>ccT	p.P182P	OLA1_ENST00000284719.3_Silent_p.P162P|OLA1_ENST00000344357.5_Silent_p.P4P|OLA1_ENST00000428402.2_Silent_p.P162P					Obg-like ATPase 1									p.P162P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TATCTATAATGGGCCCAATCA	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		14503	0.001		0.0	False		,,,				2504	0.0						uc002uih.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(484-486)CCC>CCT		Obg-like ATPase 1 isoform 1							97.0	95.0	95.0					2																	175006616		2203	4300	6503	SO:0001819	synonymous_variant	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:175006616G>A		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.546C>T	2.37:g.175006616G>A						OLA1_uc002uii.2_Silent_p.P4P|OLA1_uc010fqq.2_Silent_p.P162P|OLA1_uc002uij.2_Silent_p.P4P|OLA1_uc002uik.2_Silent_p.P132P|OLA1_uc010fqr.2_Silent_p.P162P	p.P162P	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN			5	672	-			162						Silent	SNP	ENST00000409546.1	37	c.486C>T																																																																																					0.343	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		6	48	0	0	0	0.001984	0	6	48				
TTN	7273	broad.mit.edu	37	2	179577161	179577161	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:179577161G>T	ENST00000591111.1	-	93	26761	c.26537C>A	c.(26536-26538)aCt>aAt	p.T8846N	TTN_ENST00000342992.6_Missense_Mutation_p.T7919N|TTN_ENST00000589042.1_Missense_Mutation_p.T9163N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12995	Ig-like 71.				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.T7919N(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)			CGATTTTTCAGTCGTAGTTAT	0.413																																							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.(23755-23757)ACT>AAT		titin isoform N2-A							108.0	107.0	107.0					2																	179577161		1851	4106	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577161G>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.26537C>A	2.37:g.179577161G>T	ENSP00000465570:p.Thr8846Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4580N	p.T7919N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		92	23980	-			8846					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.23756C>A		.	.	.	.	.	.	.	.	.	.	G	13.48	2.251016	0.39797	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79173	0.4401	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.79490	-0.1782	9	0.87932	D	0	.	20.2265	0.98340	0.0:0.0:1.0:0.0	.	8846	Q8WZ42	TITIN_HUMAN	N	7919	ENSP00000343764:T7919N	ENSP00000343764:T7919N	T	-	2	0	TTN	179285406	1.000000	0.71417	0.946000	0.38457	0.828000	0.46876	7.926000	0.87569	2.769000	0.95229	0.655000	0.94253	ACT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	77	1	0	0.000602214	0.000602	0.000754262	5	77				
TTN	7273	broad.mit.edu	37	2	179585355	179585355	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:179585355C>G	ENST00000591111.1	-	78	22407	c.22183G>C	c.(22183-22185)Gga>Cga	p.G7395R	TTN_ENST00000342992.6_Missense_Mutation_p.G6468R|TTN_ENST00000589042.1_Missense_Mutation_p.G7712R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12955	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G6468R(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)			TTAAGAGCTCCTACTGGAGAA	0.383																																							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.(19402-19404)GGA>CGA		titin isoform N2-A							36.0	33.0	34.0					2																	179585355		1805	4075	5880	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585355C>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.22183G>C	2.37:g.179585355C>G	ENSP00000465570:p.Gly7395Arg					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3129R	p.G6468R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	19626	-			7395					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.19402G>C		.	.	.	.	.	.	.	.	.	.	C	12.88	2.070019	0.36566	.	.	ENSG00000155657	ENST00000342992	T	0.66280	-0.2	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41949	0.1181	N	0.01668	-0.77	0.80722	D	1	P	0.43231	0.801	B	0.40636	0.335	T	0.60052	-0.7338	9	0.87932	D	0	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	7395	Q8WZ42	TITIN_HUMAN	R	6468	ENSP00000343764:G6468R	ENSP00000343764:G6468R	G	-	1	0	TTN	179293600	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.692000	0.61746	2.770000	0.95276	0.650000	0.86243	GGA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	11	0	0	0	0.000248	0	3	11				
TTN	7273	broad.mit.edu	37	2	179616755	179616755	+	Intron	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:179616755C>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E3458Q			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)			GATTCCCCCTCAGAGAATAAT	0.323																																							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.(10372-10374)GAG>CAG		titin isoform novex-3							84.0	95.0	92.0					2																	179616755		2197	4291	6488	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616755C>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.10360+1095G>C	2.37:g.179616755C>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E3458Q	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10596	-			3463					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.10372G>C		.	.	.	.	.	.	.	.	.	.	C	4.784	0.145750	0.09134	.	.	ENSG00000155657	ENST00000360870;ENST00000446208	T	0.59502	0.26	5.86	4.98	0.66077	.	.	.	.	.	T	0.39759	0.1090	L	0.27053	0.805	0.09310	N	0.999996	B	0.24920	0.114	B	0.21708	0.036	T	0.24548	-1.0157	9	0.15952	T	0.53	.	6.7388	0.23424	0.1448:0.7077:0.0:0.1476	.	3458	Q8WZ42-6	.	Q	3458;63	ENSP00000354117:E3458Q	ENSP00000354117:E3458Q	E	-	1	0	TTN	179325000	0.000000	0.05858	0.042000	0.18584	0.629000	0.37895	0.157000	0.16402	1.489000	0.48450	0.655000	0.94253	GAG		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	98	0	0	0	0.004482	0	8	98				
CCDC141	285025	broad.mit.edu	37	2	179742780	179742780	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:179742780C>A	ENST00000409284.1	-	12	1927	c.1810G>T	c.(1810-1812)Gac>Tac	p.D604Y	CCDC141_ENST00000420890.2_Missense_Mutation_p.D604Y|CCDC141_ENST00000295723.5_Missense_Mutation_p.D29Y			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	604								p.D604Y(2)|p.D29Y(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAGCCGAGTCAGAACAATGC	0.373																																							uc002unf.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)|pancreas(2)|skin(1)	10						c.(85-87)GAC>TAC		coiled-coil domain containing 141							92.0	91.0	91.0					2																	179742780		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179742780C>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1810G>T	2.37:g.179742780C>A	ENSP00000386503:p.Asp604Tyr					CCDC141_uc002ung.2_Missense_Mutation_p.D604Y	p.D29Y	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		2	142	-			29					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000409284.1	37	c.85G>T		.	.	.	.	.	.	.	.	.	.	C	15.64	2.893457	0.52121	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.48201	0.82;1.43;1.26;1.43	5.04	4.14	0.48551	.	0.373747	0.22438	N	0.060047	T	0.40297	0.1111	N	0.24115	0.695	0.18873	N	0.999986	P;D	0.54207	0.947;0.965	P;P	0.51135	0.453;0.66	T	0.21759	-1.0236	10	0.72032	D	0.01	-1.7981	6.5736	0.22553	0.0:0.7159:0.1828:0.1013	.	604;29	B8ZZB3;Q6ZP82	.;CC141_HUMAN	Y	604;48;29;604;539;604	ENSP00000395995:D604Y;ENSP00000344627:D48Y;ENSP00000295723:D29Y;ENSP00000390190:D604Y	ENSP00000295723:D29Y	D	-	1	0	CCDC141	179451025	0.903000	0.30736	0.312000	0.25196	0.072000	0.16883	1.822000	0.39052	1.076000	0.40961	0.585000	0.79938	GAC		0.373	CCDC141-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000335873.1	NM_173648		17	42	1	0	2.23348e-06	0.004007	3.41486e-06	17	42				
ZNF804A	91752	broad.mit.edu	37	2	185801377	185801377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:185801377C>A	ENST00000302277.6	+	4	1848	c.1254C>A	c.(1252-1254)tgC>tgA	p.C418*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	418							metal ion binding (GO:0046872)	p.C418*(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						CAAATTTCTGCAAAAGACAAT	0.378																																							uc002uph.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1252-1254)TGC>TGA		zinc finger protein 804A							107.0	116.0	113.0					2																	185801377		2203	4300	6503	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185801377C>A	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.1254C>A	2.37:g.185801377C>A	ENSP00000303252:p.Cys418*						p.C418*	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1848	+			418					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.1254C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672838	0.96754	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.46	-2.09	0.07232	.	1.927550	0.02127	N	0.056085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	3.4336	2.5174	0.04671	0.1306:0.3807:0.1345:0.3542	.	.	.	.	X	418	.	ENSP00000303252:C418X	C	+	3	2	ZNF804A	185509622	0.000000	0.05858	0.088000	0.20740	0.106000	0.19336	-0.264000	0.08658	-0.536000	0.06298	-0.658000	0.03865	TGC		0.378	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		9	110	1	0	0.000274275	0.004482	0.000355681	9	110				
ZNF804A	91752	broad.mit.edu	37	2	185801697	185801697	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:185801697C>A	ENST00000302277.6	+	4	2168	c.1574C>A	c.(1573-1575)cCt>cAt	p.P525H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	525							metal ion binding (GO:0046872)	p.P525H(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						CAAGTCACTCCTCTTTTGGCT	0.373																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1573-1575)CCT>CAT		zinc finger protein 804A							65.0	71.0	69.0					2																	185801697		2160	4293	6453	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801697C>A	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.1574C>A	2.37:g.185801697C>A	ENSP00000303252:p.Pro525His						p.P525H	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2168	+			525					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1574C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766236	0.31228	.	.	ENSG00000170396	ENST00000302277	T	0.06687	3.27	5.26	5.26	0.73747	.	0.615276	0.15446	N	0.261908	T	0.16471	0.0396	L	0.46157	1.445	0.09310	N	1	D	0.63046	0.992	P	0.51487	0.671	T	0.03684	-1.1013	10	0.66056	D	0.02	-3.6384	16.0172	0.80450	0.0:1.0:0.0:0.0	.	525	Q7Z570	Z804A_HUMAN	H	525	ENSP00000303252:P525H	ENSP00000303252:P525H	P	+	2	0	ZNF804A	185509942	0.000000	0.05858	0.033000	0.17914	0.025000	0.11179	0.787000	0.26858	2.448000	0.82819	0.650000	0.86243	CCT		0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		21	44	1	0	8.10497e-08	0.001523	1.356e-07	21	44				
ZNF804A	91752	broad.mit.edu	37	2	185802923	185802923	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:185802923C>A	ENST00000302277.6	+	4	3394	c.2800C>A	c.(2800-2802)Ctt>Att	p.L934I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	934							metal ion binding (GO:0046872)	p.L934I(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						CAATACCCTGCTTGAACACAA	0.393																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2800-2802)CTT>ATT		zinc finger protein 804A							84.0	82.0	82.0					2																	185802923		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802923C>A	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.2800C>A	2.37:g.185802923C>A	ENSP00000303252:p.Leu934Ile						p.L934I	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3394	+			934					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2800C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	7.306	0.613990	0.14066	.	.	ENSG00000170396	ENST00000302277	T	0.06528	3.29	5.57	2.42	0.29668	.	0.868878	0.09854	N	0.747201	T	0.05456	0.0144	N	0.22421	0.69	0.09310	N	1	B	0.21381	0.055	B	0.15870	0.014	T	0.38308	-0.9667	10	0.46703	T	0.11	-2.1462	10.0526	0.42225	0.3054:0.6181:0.0:0.0765	.	934	Q7Z570	Z804A_HUMAN	I	934	ENSP00000303252:L934I	ENSP00000303252:L934I	L	+	1	0	ZNF804A	185511168	0.000000	0.05858	0.425000	0.26659	0.671000	0.39405	0.376000	0.20535	0.669000	0.31146	0.591000	0.81541	CTT		0.393	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		5	60	1	0	3.59834e-05	0.001168	5.08422e-05	5	60				
ZSWIM2	151112	broad.mit.edu	37	2	187694603	187694603	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:187694603C>A	ENST00000295131.2	-	8	985	c.946G>T	c.(946-948)Gtt>Ttt	p.V316F		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	316					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V316F(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GGTGTGTAAACTTGGCTGAAT	0.368																																							uc002upu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(946-948)GTT>TTT		zinc finger, SWIM domain containing 2							192.0	183.0	186.0					2																	187694603		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187694603C>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.946G>T	2.37:g.187694603C>A	ENSP00000295131:p.Val316Phe						p.V316F	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	986	-			316					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.946G>T	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	2.726	-0.265451	0.05754	.	.	ENSG00000163012	ENST00000295131	T	0.24908	1.83	5.74	0.702	0.18110	.	0.406202	0.20991	N	0.082026	T	0.11665	0.0284	N	0.25890	0.77	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.20338	-1.0278	10	0.16896	T	0.51	-2.8815	0.9872	0.01449	0.159:0.3913:0.1448:0.305	.	316	Q8NEG5	ZSWM2_HUMAN	F	316	ENSP00000295131:V316F	ENSP00000295131:V316F	V	-	1	0	ZSWIM2	187402848	0.000000	0.05858	0.082000	0.20525	0.321000	0.28281	-0.137000	0.10389	0.122000	0.18314	0.563000	0.77884	GTT		0.368	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		8	66	1	0	0.000673444	0.008291	0.000838851	8	66				
COL3A1	1281	broad.mit.edu	37	2	189870985	189870985	+	Splice_Site	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:189870985G>A	ENST00000304636.3	+	42	3263	c.3093G>A	c.(3091-3093)aaG>aaA	p.K1031K	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1031	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.K1031K(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CTGGTGGCAAGGTATAATAAA	0.368																																							uc002uqj.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(3091-3093)AAG>AAA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						103.0	108.0	106.0					2																	189870985		2203	4300	6503	SO:0001630	splice_region_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189870985G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3093+1G>A	2.37:g.189870985G>A							p.K1031K	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		42	3210	+			1031			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.3093G>A	CCDS2297.1																																																																																				0.368	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	Silent	6	58	0	0	0	0.001984	0	6	58				
COL3A1	1281	broad.mit.edu	37	2	189875573	189875573	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:189875573G>A	ENST00000304636.3	+	50	4381	c.4211G>A	c.(4210-4212)gGa>gAa	p.G1404E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1101E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1404	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G1404E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAGGCTGAAGGAAATAGCAAA	0.408																																							uc002uqj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(4210-4212)GGA>GAA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						99.0	91.0	94.0					2																	189875573		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189875573G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4211G>A	2.37:g.189875573G>A	ENSP00000304408:p.Gly1404Glu						p.G1404E	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		50	4328	+			1404			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.4211G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897669	0.72639	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.73047	-0.71;-0.71	5.29	5.29	0.74685	Fibrillar collagen, C-terminal (4);	0.000000	0.50627	D	0.000114	D	0.85873	0.5798	M	0.83774	2.66	0.47862	D	0.999536	D	0.89917	1.0	D	0.97110	1.0	D	0.87402	0.2370	10	0.62326	D	0.03	.	18.9332	0.92574	0.0:0.0:1.0:0.0	.	1404	P02461	CO3A1_HUMAN	E	1404;1101	ENSP00000304408:G1404E;ENSP00000315243:G1101E	ENSP00000304408:G1404E	G	+	2	0	COL3A1	189583818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.481000	0.83766	0.655000	0.94253	GGA		0.408	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		9	65	0	0	0	0.006214	0	9	65				
COL5A2	1290	broad.mit.edu	37	2	189931133	189931133	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:189931133C>A	ENST00000374866.3	-	23	1820	c.1546G>T	c.(1546-1548)Ggg>Tgg	p.G516W		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	516					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G516W(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCACTGGCCCTGGAGGACCA	0.463																																							uc002uqk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1546-1548)GGG>TGG		alpha 2 type V collagen preproprotein							177.0	190.0	185.0					2																	189931133		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189931133C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1546G>T	2.37:g.189931133C>A	ENSP00000364000:p.Gly516Trp					COL5A2_uc010frx.2_Missense_Mutation_p.G92W	p.G516W	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		23	1821	-			516					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1546G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584016	0.86748	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.98835	-5.17	5.28	5.28	0.74379	.	0.000000	0.51477	D	0.000087	D	0.99576	0.9847	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97669	1.0165	9	.	.	.	.	19.2729	0.94018	0.0:1.0:0.0:0.0	.	156;516	Q5PR22;P05997	.;CO5A2_HUMAN	W	516;156	ENSP00000364000:G516W	.	G	-	1	0	COL5A2	189639378	1.000000	0.71417	0.975000	0.42487	0.974000	0.67602	7.409000	0.80053	2.638000	0.89438	0.467000	0.42956	GGG		0.463	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		50	139	1	0	6.3008e-33	0.00361	1.26685e-32	50	139				
C2orf88	84281	broad.mit.edu	37	2	190788268	190788268	+	Intron	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:190788268A>G	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						CTGTAGCAGGAGAGGATGGCA	0.478																																							uc002uro.2		NA																	0					NA						c.(205-207)GGA>GGG		SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C;																																				SO:0001627	intron_variant	0							g.chr2:190788268A>G	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+43715A>G	2.37:g.190788268A>G							p.G69G							1	350	+								D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000478197.1	37	c.207A>G																																																																																					0.478	C2orf88-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000334952.1	NM_032321		5	52	0	0	0	0.000602	0	5	52				
MYO1B	4430	broad.mit.edu	37	2	192288585	192288585	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:192288585G>T	ENST00000392318.3	+	31	3557	c.3310G>T	c.(3310-3312)Gac>Tac	p.D1104Y	MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075Y|MYO1B_ENST00000439065.2_Missense_Mutation_p.D349Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1104	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D1046Y(1)|p.D1104Y(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTTCAGACAGGACAAAGTATG	0.358																																							uc010fsg.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(3310-3312)GAC>TAC		myosin IB isoform 1							108.0	110.0	109.0					2																	192288585		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192288585G>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3310G>T	2.37:g.192288585G>T	ENSP00000376132:p.Asp1104Tyr					MYO1B_uc002usq.2_Missense_Mutation_p.D1046Y|MYO1B_uc002usr.2_Missense_Mutation_p.D1104Y|MYO1B_uc002usu.2_Missense_Mutation_p.D349Y|MYO1B_uc002usv.2_Missense_Mutation_p.D220Y	p.D1104Y	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		31	3565	+			1104					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.3310G>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214040	0.79352	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.78	5.78	0.91487	Myosin tail 2 (1);	0.048029	0.85682	D	0.000000	T	0.54647	0.1871	L	0.43152	1.355	0.80722	D	1	D;P;D	0.89917	1.0;0.939;0.957	D;P;P	0.97110	1.0;0.801;0.7	T	0.52102	-0.8620	10	0.59425	D	0.04	.	18.2008	0.89838	0.0:0.0:1.0:0.0	.	349;1104;1046	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	Y	1046;1104;1104;1075;349	ENSP00000341903:D1046Y;ENSP00000376132:D1104Y;ENSP00000306382:D1104Y;ENSP00000376130:D1075Y;ENSP00000391442:D349Y	ENSP00000306382:D1104Y	D	+	1	0	MYO1B	191996830	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	8.947000	0.93000	2.730000	0.93505	0.655000	0.94253	GAC		0.358	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		29	68	1	0	0.00631998	0.00632	0.00734099	29	68				
DNAH7	56171	broad.mit.edu	37	2	196729567	196729567	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:196729567C>A	ENST00000312428.6	-	41	6912	c.6812G>T	c.(6811-6813)tGt>tTt	p.C2271F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2271					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.C2271F(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						ATGGAAATCACAAAACATTAA	0.378																																							uc002utj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(6811-6813)TGT>TTT		dynein, axonemal, heavy chain 7							178.0	164.0	168.0					2																	196729567		1901	4139	6040	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729567C>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.6812G>T	2.37:g.196729567C>A	ENSP00000311273:p.Cys2271Phe						p.C2271F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	6913	-			2271					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6812G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950390	0.73787	.	.	ENSG00000118997	ENST00000312428	T	0.21543	2.0	5.22	5.22	0.72569	.	0.000000	0.52532	U	0.000078	T	0.56292	0.1975	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64879	-0.6303	10	0.72032	D	0.01	.	18.5657	0.91115	0.0:1.0:0.0:0.0	.	2271	Q8WXX0	DYH7_HUMAN	F	2271	ENSP00000311273:C2271F	ENSP00000311273:C2271F	C	-	2	0	DNAH7	196437812	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.910000	0.69931	2.720000	0.93068	0.563000	0.77884	TGT		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		16	132	1	0	1.5739e-10	0.004007	2.85159e-10	16	132				
SATB2	23314	broad.mit.edu	37	2	200137222	200137222	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:200137222C>A	ENST00000417098.1	-	11	2730	c.1914G>T	c.(1912-1914)ctG>ctT	p.L638L	SATB2_ENST00000260926.5_Silent_p.L638L|SATB2_ENST00000457245.1_Silent_p.L638L|SATB2_ENST00000428695.1_Silent_p.L520L|SATB2_ENST00000443023.1_Silent_p.L579L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	638					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.L638L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTCTGGGTACAGGCCTACAT	0.527																																					Colon(30;262 767 11040 24421 36230)	Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1912-1914)CTG>CTT		SATB homeobox 2							104.0	95.0	98.0					2																	200137222		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137222C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1914G>T	2.37:g.200137222C>A						SATB2_uc010fsq.1_Silent_p.L520L|SATB2_uc002uuz.1_Silent_p.L638L|SATB2_uc002uva.1_Silent_p.L638L	p.L638L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2731	-			638			Homeobox.		A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1914G>T	CCDS2327.1																																																																																				0.527	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		3	49	1	0	0.000602214	0.000602	0.000754262	3	49				
MPP4	58538	broad.mit.edu	37	2	202550695	202550695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:202550695C>A	ENST00000409474.3	-	6	646	c.439G>T	c.(439-441)Gag>Tag	p.E147*	MPP4_ENST00000359962.5_Nonsense_Mutation_p.E147*|MPP4_ENST00000396886.3_Intron|MPP4_ENST00000428900.2_Nonsense_Mutation_p.E147*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.E147*|MPP4_ENST00000447335.2_Nonsense_Mutation_p.E147*|MPP4_ENST00000409143.1_Nonsense_Mutation_p.E120*	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	147					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.E147*(2)		kidney(1)|lung(11)	12						TCCTCACTCTCAGGGATATTG	0.453																																							uc002uyk.3		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(439-441)GAG>TAG		membrane protein, palmitoylated 4							133.0	126.0	128.0					2																	202550695		1901	4124	6025	SO:0001587	stop_gained	58538					cytoplasm	protein binding	g.chr2:202550695C>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.439G>T	2.37:g.202550695C>A	ENSP00000387278:p.Glu147*					MPP4_uc010ftj.2_Nonsense_Mutation_p.E147*|MPP4_uc010zhq.1_Nonsense_Mutation_p.E147*|MPP4_uc010zhr.1_Nonsense_Mutation_p.E147*|MPP4_uc010zhs.1_Intron|MPP4_uc002uyj.3_Intron|MPP4_uc010zht.1_Nonsense_Mutation_p.E120*|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Nonsense_Mutation_p.E147*|MPP4_uc002uym.1_Intron|MPP4_uc002uyn.2_Intron	p.E147*	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			6	647	-			147					C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Nonsense_Mutation	SNP	ENST00000409474.3	37	c.439G>T	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	C	36	5.893505	0.97074	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000359962;ENST00000428900;ENST00000409143;ENST00000447335	.	.	.	5.62	5.62	0.85841	.	0.392412	0.27581	N	0.018727	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	.	.	.	X	147;147;147;147;120;147	.	ENSP00000319363:E147X	E	-	1	0	MPP4	202258940	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.545000	0.60698	2.659000	0.90383	0.655000	0.94253	GAG		0.453	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			16	63	1	0	4.7546e-09	0.004007	8.30958e-09	16	63				
FZD7	8324	broad.mit.edu	37	2	202899448	202899448	+	Silent	SNP	G	G	C	rs35732430	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:202899448G>C	ENST00000286201.1	+	1	139	c.78G>C	c.(76-78)ctG>ctC	p.L26L	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	26					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|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)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L26L(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TGGGCGCACTGTCCGCGGGCG	0.741																																							uc002uyw.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(76-78)CTG>CTC		frizzled 7 precursor							33.0	34.0	34.0					2																	202899448		2201	4298	6499	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202899448G>C	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.78G>C	2.37:g.202899448G>C							p.L26L	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	139	+			26					O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.78G>C	CCDS2351.1																																																																																				0.741	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		13	26	0	0	0	0.00245	0	13	26				
CYP20A1	57404	broad.mit.edu	37	2	204111546	204111546	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:204111546G>T	ENST00000356079.4	+	3	314	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	64						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R64I(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTGCATGAGAGATATGGGCCT	0.428																																							uc002uzv.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(190-192)AGA>ATA		cytochrome P450, family 20, subfamily A,							306.0	291.0	296.0					2																	204111546		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204111546G>T	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.191G>T	2.37:g.204111546G>T	ENSP00000348380:p.Arg64Ile					CYP20A1_uc002uzx.3_Intron|CYP20A1_uc010zif.1_Missense_Mutation_p.R64I|CYP20A1_uc002uzy.3_Intron|CYP20A1_uc002uzw.3_RNA	p.R64I	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN			3	813	+			64					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.191G>T	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.939281	0.73557	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.69561	-0.41;-0.41;-0.41	5.36	4.49	0.54785	.	0.285799	0.39210	N	0.001432	T	0.68622	0.3021	L	0.47716	1.5	0.36984	D	0.89446	D;P	0.55800	0.973;0.769	P;P	0.54815	0.761;0.544	T	0.75124	-0.3428	10	0.87932	D	0	-7.0928	9.1118	0.36732	0.2098:0.0:0.7902:0.0	.	64;64	E9PHG5;Q6UW02	.;CP20A_HUMAN	I	64	ENSP00000348380:R64I;ENSP00000407860:R64I;ENSP00000411341:R64I	ENSP00000348380:R64I	R	+	2	0	CYP20A1	203819791	1.000000	0.71417	0.969000	0.41365	0.912000	0.54170	4.114000	0.57858	1.285000	0.44548	-0.213000	0.12676	AGA		0.428	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		8	168	1	0	0.000274275	0.004482	0.000355681	8	168				
PARD3B	117583	broad.mit.edu	37	2	206480373	206480373	+	Nonsense_Mutation	SNP	A	A	T	rs559850700		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:206480373A>T	ENST00000406610.2	+	23	3661	c.3454A>T	c.(3454-3456)Aaa>Taa	p.K1152*	PARD3B_ENST00000358768.2_Nonsense_Mutation_p.K1090*|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Nonsense_Mutation_p.K1051*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.K1083*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1152					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.K1090*(1)|p.K1091*(1)|p.K1083*(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCCCCAGCACAAAGGACCCTT	0.637																																							uc002var.1		NA																	3	Substitution - Nonsense(3)		lung(3)	skin(2)|ovary(1)|breast(1)	4						c.(3454-3456)AAA>TAA		par-3 partitioning defective 3 homolog B isoform							74.0	86.0	82.0					2																	206480373		1977	4145	6122	SO:0001587	stop_gained	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480373A>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3454A>T	2.37:g.206480373A>T	ENSP00000385848:p.Lys1152*					PARD3B_uc002vao.1_Nonsense_Mutation_p.K1051*|PARD3B_uc002vap.1_Nonsense_Mutation_p.K1090*|PARD3B_uc002vaq.1_Nonsense_Mutation_p.K1083*|uc010fuc.1_5'Flank	p.K1152*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3661	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1152					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Nonsense_Mutation	SNP	ENST00000406610.2	37	c.3454A>T		.	.	.	.	.	.	.	.	.	.	A	39	7.751773	0.98471	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2847	0.82712	1.0:0.0:0.0:0.0	.	.	.	.	X	1152;1090;1083;1051	.	ENSP00000340280:K1051X	K	+	1	0	PARD3B	206188618	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.326000	0.72905	2.242000	0.73789	0.528000	0.53228	AAA		0.637	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		6	48	0	0	0	0.001984	0	6	48				
NDUFS1	4719	broad.mit.edu	37	2	206991267	206991267	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:206991267C>A	ENST00000233190.6	-	18	2354	c.2088G>T	c.(2086-2088)atG>atT	p.M696I	NDUFS1_ENST00000455934.2_Missense_Mutation_p.M710I|NDUFS1_ENST00000457011.1_Missense_Mutation_p.M580I|NDUFS1_ENST00000432169.1_Missense_Mutation_p.M585I|NDUFS1_ENST00000449699.1_Missense_Mutation_p.M696I|NDUFS1_ENST00000423725.1_Missense_Mutation_p.M639I|NDUFS1_ENST00000440274.1_Missense_Mutation_p.M660I	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	696					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|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)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.M696I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACATACCTGTCATGTAGAAGT	0.368																																							uc002vbe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2086-2088)ATG>ATT		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						121.0	114.0	117.0					2																	206991267		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:206991267C>A		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.2088G>T	2.37:g.206991267C>A	ENSP00000233190:p.Met696Ile					NDUFS1_uc010ziq.1_Missense_Mutation_p.M710I|NDUFS1_uc010zir.1_Missense_Mutation_p.M660I|NDUFS1_uc010zis.1_Missense_Mutation_p.M639I|NDUFS1_uc010zit.1_Missense_Mutation_p.M585I|NDUFS1_uc010ziu.1_Missense_Mutation_p.M580I	p.M696I	NM_005006	NP_004997	P28331	NDUS1_HUMAN			18	2215	-			696					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.2088G>T	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018871	0.75275	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.7	5.7	0.88788	NADH-quinone oxidoreductase, chain G, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	L	0.56396	1.775	0.80722	D	1	B;B;B;B	0.30889	0.024;0.011;0.299;0.151	B;B;B;B	0.40940	0.237;0.074;0.259;0.344	D	0.88841	0.3312	10	0.54805	T	0.06	-1.3468	19.8478	0.96722	0.0:1.0:0.0:0.0	.	585;660;710;696	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	I	696;639;580;660;710;696;585	ENSP00000233190:M696I;ENSP00000397760:M639I;ENSP00000400976:M580I;ENSP00000409766:M660I;ENSP00000392709:M710I;ENSP00000399912:M696I;ENSP00000409689:M585I	ENSP00000233190:M696I	M	-	3	0	NDUFS1	206699512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.726000	0.84824	2.704000	0.92352	0.650000	0.86243	ATG		0.368	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		3	22	1	0	6.4e-05	0.004672	8.8683e-05	3	22				
ZDBF2	57683	broad.mit.edu	37	2	207171384	207171384	+	Missense_Mutation	SNP	C	C	T	rs188595104		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:207171384C>T	ENST00000374423.3	+	5	2518	c.2132C>T	c.(2131-2133)cCg>cTg	p.P711L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	711							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P711L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTGATTCTCCGGCTTCTCTT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		21728	0.001		0.0	False		,,,				2504	0.0						uc002vbp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2131-2133)CCG>CTG		zinc finger, DBF-type containing 2							72.0	71.0	71.0					2																	207171384		1849	4101	5950	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171384C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2132C>T	2.37:g.207171384C>T	ENSP00000363545:p.Pro711Leu						p.P711L	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	2382	+			711					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2132C>T	CCDS46501.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	0.832	-0.744982	0.03065	.	.	ENSG00000204186	ENST00000374423	T	0.42513	0.97	4.21	0.595	0.17490	.	1.759490	0.03370	N	0.198898	T	0.25494	0.0620	N	0.22421	0.69	0.09310	N	1	P	0.36535	0.557	B	0.24974	0.057	T	0.18272	-1.0342	10	0.41790	T	0.15	.	5.5994	0.17345	0.6662:0.2322:0.1016:0.0	.	711	Q9HCK1	ZDBF2_HUMAN	L	711	ENSP00000363545:P711L	ENSP00000363545:P711L	P	+	2	0	ZDBF2	206879629	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.370000	0.20433	0.097000	0.17492	-0.181000	0.13052	CCG		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		10	34	0	0	0	0.006214	0	10	34				
CPS1	1373	broad.mit.edu	37	2	211438024	211438024	+	Silent	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:211438024A>C	ENST00000233072.5	+	2	325	c.129A>C	c.(127-129)gcA>gcC	p.A43A	CPS1_ENST00000430249.2_Silent_p.A49A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	43	Anthranilate phosphoribosyltransferase homolog.		A -> V (in CPS1D). {ECO:0000269|PubMed:21120950}.		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)	p.A43A(1)|p.A49A(1)		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)	TTCTTCAGGCACAGACAGCAC	0.383																																							uc002vee.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(127-129)GCA>GCC		carbamoyl-phosphate synthetase 1 isoform b							184.0	173.0	177.0					2																	211438024		2203	4300	6503	SO:0001819	synonymous_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.chr2:211438024A>C	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.129A>C	2.37:g.211438024A>C						CPS1_uc010fur.2_Silent_p.A49A	p.A43A	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)	2	261	+			43			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.129A>C	CCDS2393.1																																																																																				0.383	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			7	97	0	0	0	0.004482	0	7	97				
CPS1	1373	broad.mit.edu	37	2	211525277	211525277	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:211525277C>T	ENST00000233072.5	+	32	4021	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F	CPS1_ENST00000430249.2_Silent_p.F1281F|CPS1_ENST00000451903.2_Silent_p.F824F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1275	ATP-grasp 2.				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)	p.F1275F(1)|p.F1281F(1)		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)	GGGTTGACTTCATTGATGTGG	0.413																																							uc002vee.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3823-3825)TTC>TTT		carbamoyl-phosphate synthetase 1 isoform b							243.0	221.0	228.0					2																	211525277		2203	4300	6503	SO:0001819	synonymous_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.chr2:211525277C>T	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.3825C>T	2.37:g.211525277C>T						CPS1_uc010fur.2_Silent_p.F1281F|CPS1_uc010fus.2_Silent_p.F824F	p.F1275F	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)	32	3957	+			1275			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.3825C>T	CCDS2393.1																																																																																				0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			7	137	0	0	0	0.001984	0	7	137				
ERBB4	2066	broad.mit.edu	37	2	212251683	212251683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:212251683G>A	ENST00000342788.4	-	27	3686	c.3376C>T	c.(3376-3378)Cag>Tag	p.Q1126*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q1116*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q1110*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1126					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q1126*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTGTACCTCTGGGTGCTACTG	0.557										TSP Lung(8;0.080)																													uc002veg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3376-3378)CAG>TAG		v-erb-a erythroblastic leukemia viral oncogene							150.0	132.0	138.0					2																	212251683		2203	4300	6503	SO:0001587	stop_gained	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251683G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3376C>T	2.37:g.212251683G>A	ENSP00000342235:p.Gln1126*	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Nonsense_Mutation_p.Q1110*|ERBB4_uc010zji.1_Nonsense_Mutation_p.Q1116*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.Q1100*	p.Q1126*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3474	-		Renal(323;0.06)|Lung NSC(271;0.197)	1126			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	c.3376C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	40	8.028833	0.98619	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.6171	0.95638	0.0:0.0:1.0:0.0	.	.	.	.	X	1126;1110;1116	.	ENSP00000342235:Q1126X	Q	-	1	0	ERBB4	211959928	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.215000	0.95146	2.638000	0.89438	0.462000	0.41574	CAG		0.557	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		7	75	0	0	0	0.00308	0	7	75				
BARD1	580	broad.mit.edu	37	2	215645838	215645838	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:215645838T>A	ENST00000260947.4	-	4	894	c.760A>T	c.(760-762)Ata>Tta	p.I254L	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.I110L	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	254					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I254L(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCACCATTTATCTGAGGACTG	0.398									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002veu.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(760-762)ATA>TTA		BRCA1 associated RING domain 1							61.0	65.0	64.0					2																	215645838		2203	4298	6501	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645838T>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.760A>T	2.37:g.215645838T>A	ENSP00000260947:p.Ile254Leu					BARD1_uc010zjm.1_Missense_Mutation_p.I110L	p.I254L	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	895	-		Renal(323;0.0243)	254					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.760A>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738763	0.30774	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.71461	-0.57;0.08	5.75	-11.5	0.00074	.	3.148880	0.00465	N	0.000103	T	0.48333	0.1494	N	0.25647	0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20174	-1.0283	10	0.24483	T	0.36	3.9776	5.1708	0.15108	0.1186:0.5505:0.2376:0.0933	.	110;254	E7EUI3;Q99728	.;BARD1_HUMAN	L	254;110	ENSP00000260947:I254L;ENSP00000406752:I110L	ENSP00000260947:I254L	I	-	1	0	BARD1	215354083	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.207000	0.09384	-2.239000	0.00711	-0.297000	0.09499	ATA		0.398	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		17	57	0	0	0	0.004007	0	17	57				
TNS1	7145	broad.mit.edu	37	2	218700935	218700935	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:218700935C>G	ENST00000171887.4	-	18	3085		c.e18-1		TNS1_ENST00000419504.1_Splice_Site|TNS1_ENST00000430930.1_Splice_Site	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1						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.?(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)		GCCTGTACCCCTGGGAGGAAA	0.572																																							uc002vgt.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|breast(1)	4						c.e18-1		tensin							27.0	30.0	29.0					2																	218700935		2202	4299	6501	SO:0001630	splice_region_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218700935C>G	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.2633-1G>C	2.37:g.218700935C>G						TNS1_uc002vgr.2_Splice_Site_p.G878_splice|TNS1_uc002vgs.2_Splice_Site_p.G878_splice|TNS1_uc010zjv.1_Splice_Site_p.G878_splice	p.G878_splice	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)	18	3031	-		Renal(207;0.0483)|Lung NSC(271;0.213)						Q4ZG71|Q6IPI5	Splice_Site	SNP	ENST00000171887.4	37	c.2633_splice	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718187	0.68844	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	.	.	.	5.38	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8803	0.58014	0.0:0.9214:0.0:0.0786	.	.	.	.	.	-1	.	.	.	-	.	.	TNS1	218409180	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.384000	0.73177	1.503000	0.48686	0.655000	0.94253	.		0.572	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	Intron	5	35	0	0	0	0.000602	0	5	35				
SPEG	10290	broad.mit.edu	37	2	220350089	220350089	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:220350089G>T	ENST00000312358.7	+	31	7763	c.7631G>T	c.(7630-7632)cGg>cTg	p.R2544L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2544					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R2544L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCCGAAGCCGGCTCCGCTGG	0.622																																							uc010fwg.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(7630-7632)CGG>CTG		SPEG complex locus							53.0	62.0	59.0					2																	220350089		1935	4124	6059	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220350089G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7631G>T	2.37:g.220350089G>T	ENSP00000311684:p.Arg2544Leu						p.R2544L	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	31	7631	+		Renal(207;0.0183)	2544					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.7631G>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296324	0.60086	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.68181	-0.31	5.79	5.79	0.91817	.	0.000000	0.38217	N	0.001768	T	0.56645	0.1999	L	0.29908	0.895	0.80722	D	1	P	0.36616	0.561	B	0.29524	0.103	T	0.61912	-0.6965	10	0.87932	D	0	.	20.032	0.97543	0.0:0.0:1.0:0.0	.	2544	Q15772	SPEG_HUMAN	L	2544	ENSP00000311684:R2544L	ENSP00000265327:R2544L	R	+	2	0	SPEG	220058333	0.998000	0.40836	0.813000	0.32504	0.989000	0.77384	3.749000	0.55150	2.743000	0.94032	0.655000	0.94253	CGG		0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		7	75	1	0	0.000157383	0.00308	0.000211083	7	75				
SLC4A3	6508	broad.mit.edu	37	2	220505177	220505177	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:220505177G>C	ENST00000358055.3	+	21	3815	c.3303G>C	c.(3301-3303)gtG>gtC	p.V1101V	SLC4A3_ENST00000373760.2_Silent_p.V1101V|SLC4A3_ENST00000373762.3_Silent_p.V1128V|SLC4A3_ENST00000317151.3_Silent_p.V1101V|SLC4A3_ENST00000273063.6_Silent_p.V1128V			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1101	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.V1128V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGGGCTGTGCTGCGTCGGA	0.607																																							uc002vmp.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(3301-3303)GTG>GTC		solute carrier family 4, anion exchanger, member							140.0	120.0	127.0					2																	220505177		2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220505177G>C		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3303G>C	2.37:g.220505177G>C						SLC4A3_uc002vmo.3_Silent_p.V1128V|SLC4A3_uc010fwm.2_Silent_p.V651V	p.V1101V	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	21	3572	+		Renal(207;0.0183)	1101			Helical; (Potential).|Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.3303G>C	CCDS2445.1																																																																																				0.607	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		6	72	0	0	0	0.001984	0	6	72				
IRS1	3667	broad.mit.edu	37	2	227661390	227661390	+	Missense_Mutation	SNP	C	C	A	rs141094678		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:227661390C>A	ENST00000305123.5	-	1	3085	c.2065G>T	c.(2065-2067)Gtc>Ttc	p.V689F	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	689					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.V689F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCGGAAGGGACGGCGTtgctg	0.627											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002voh.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(2065-2067)GTC>TTC		insulin receptor substrate 1							61.0	65.0	64.0					2																	227661390		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661390C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2065G>T	2.37:g.227661390C>A	ENSP00000304895:p.Val689Phe		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.V689F	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2117	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	689						Missense_Mutation	SNP	ENST00000305123.5	37	c.2065G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	1.346	-0.592801	0.03771	.	.	ENSG00000169047	ENST00000305123	T	0.57752	0.38	4.6	1.44	0.22558	.	0.607362	0.14640	N	0.307256	T	0.28433	0.0703	N	0.08118	0	0.09310	N	0.999999	B	0.18166	0.026	B	0.17098	0.017	T	0.16424	-1.0403	10	0.46703	T	0.11	-3.1809	6.0713	0.19891	0.0:0.6144:0.0:0.3856	.	689	P35568	IRS1_HUMAN	F	689	ENSP00000304895:V689F	ENSP00000304895:V689F	V	-	1	0	IRS1	227369634	0.896000	0.30565	0.110000	0.21437	0.021000	0.10359	0.000000	0.12993	0.081000	0.16988	-0.215000	0.12644	GTC		0.627	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		20	50	1	0	3.62473e-10	0.001882	6.49479e-10	20	50				
TRIP12	9320	broad.mit.edu	37	2	230657800	230657800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:230657800G>A	ENST00000283943.5	-	26	3983	c.3805C>T	c.(3805-3807)Cag>Tag	p.Q1269*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q1317*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Q999*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1269					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1269*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTTGTAACTGGCATTTTAAT	0.388																																							uc002vpw.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3805-3807)CAG>TAG		thyroid hormone receptor interactor 12							101.0	100.0	100.0					2																	230657800		2203	4300	6503	SO:0001587	stop_gained	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230657800G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3805C>T	2.37:g.230657800G>A	ENSP00000283943:p.Gln1269*					TRIP12_uc002vpx.1_Nonsense_Mutation_p.Q1317*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.Q999*	p.Q1269*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	26	3914	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1269					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	c.3805C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	45	11.868962	0.99612	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	19.6261	0.95678	0.0:0.0:1.0:0.0	.	.	.	.	X	1269;999;1317	.	ENSP00000283943:Q1269X	Q	-	1	0	TRIP12	230366044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.312000	0.96287	2.615000	0.88500	0.650000	0.86243	CAG		0.388	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		4	48	0	0	0	0.000602	0	4	48				
CHRND	1144	broad.mit.edu	37	2	233398755	233398755	+	Nonsense_Mutation	SNP	G	G	T	rs145920855		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:233398755G>T	ENST00000258385.3	+	10	1194	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*	CHRND_ENST00000543200.1_Nonsense_Mutation_p.E373*|CHRND_ENST00000457943.2_Nonsense_Mutation_p.E194*	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	388					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|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 binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.E388*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CTCCAAGGCCGAGGAGTACTT	0.662																																							uc002vsw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1162-1164)GAG>TAG		nicotinic acetylcholine receptor delta							67.0	65.0	66.0					2																	233398755		2203	4300	6503	SO:0001587	stop_gained	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233398755G>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1162G>T	2.37:g.233398755G>T	ENSP00000258385:p.Glu388*					CHRND_uc010zmg.1_Nonsense_Mutation_p.E373*|CHRND_uc010fyc.2_Nonsense_Mutation_p.E261*|CHRND_uc010zmh.1_Nonsense_Mutation_p.E194*	p.E388*	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	10	1166	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	388			Cytoplasmic (Potential).		A8K661|B4DT92|Q52LH4	Nonsense_Mutation	SNP	ENST00000258385.3	37	c.1162G>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	39	7.864215	0.98531	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	.	.	.	5.7	5.7	0.88788	.	0.051804	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.8471	0.96713	0.0:0.0:1.0:0.0	.	.	.	.	X	373;388;194	.	ENSP00000258385:E388X	E	+	1	0	CHRND	233106999	1.000000	0.71417	0.961000	0.40146	0.903000	0.53119	9.765000	0.98953	2.688000	0.91661	0.655000	0.94253	GAG		0.662	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			9	74	1	0	1.76689e-08	0.006214	3.00478e-08	9	74				
UGT1A7	54577	broad.mit.edu	37	2	234591014	234591014	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:234591014C>G	ENST00000373426.3	+	1	431	c.431C>G	c.(430-432)gCa>gGa	p.A144G	UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	144					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.A144G(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)	TGTTTTGATGCAGTGTTTCTC	0.373																																							uc002vut.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)GCA>GGA		UDP glycosyltransferase 1 family, polypeptide A7							141.0	142.0	142.0					2																	234591014		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.chr2:234591014C>G	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.431C>G	2.37:g.234591014C>G	ENSP00000362525:p.Ala144Gly					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.A144G	p.A144G	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	431	+		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)	144					B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.431C>G	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.299469|1.299469	0.23650|0.23650	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000373426|ENST00000485022	T|.	0.07216|.	3.21|.	4.51|4.51	2.67|2.67	0.31697|0.31697	.|.	.|.	.|.	.|.	.|.	T|T	0.62938|0.62938	0.2469|0.2469	M|M	0.79475|0.79475	2.455|2.455	0.30233|0.30233	N|N	0.795708|0.795708	D;D|.	0.61080|.	0.989;0.989|.	D;D|.	0.65573|.	0.936;0.936|.	T|T	0.62044|0.62044	-0.6937|-0.6937	9|5	0.87932|.	D|.	0|.	.|.	10.8832|10.8832	0.46951|0.46951	0.0:0.8429:0.0:0.1571|0.0:0.8429:0.0:0.1571	.|.	144;144|.	Q5DSZ7;Q9HAW7|.	.;UD17_HUMAN|.	G|E	144|1	ENSP00000362525:A144G|.	ENSP00000362525:A144G|.	A|Q	+|+	2|1	0|0	UGT1A7|UGT1A7	234255753|234255753	0.492000|0.492000	0.26027|0.26027	0.535000|0.535000	0.28026|0.28026	0.222000|0.222000	0.24845|0.24845	1.081000|1.081000	0.30791|0.30791	0.500000|0.500000	0.27991|0.27991	0.491000|0.491000	0.48974|0.48974	GCA|CAG		0.373	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		14	109	0	0	0	0.001855	0	14	109				
ASB18	401036	broad.mit.edu	37	2	237172946	237172946	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:237172946C>G	ENST00000409749.3	-	1	42	c.43G>C	c.(43-45)Gat>Cat	p.D15H	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	15					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.D15H(1)		large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TTCACTAAATCTGAGTTGAGT	0.468																																							uc010znh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(43-45)GAT>CAT		ankyrin repeat and SOCS box-containing 18							120.0	113.0	116.0					2																	237172946		1956	4165	6121	SO:0001583	missense	401036				intracellular signal transduction			g.chr2:237172946C>G	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.43G>C	2.37:g.237172946C>G	ENSP00000386532:p.Asp15His						p.D15H	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	43	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	15					B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	c.43G>C	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757637	0.31137	.	.	ENSG00000182177	ENST00000409749;ENST00000430053	T;T	0.51817	0.88;0.69	5.14	5.14	0.70334	.	.	.	.	.	T	0.61640	0.2363	L	0.59436	1.845	0.39191	D	0.96295	D	0.89917	1.0	D	0.69307	0.963	T	0.66356	-0.5944	9	0.72032	D	0.01	.	10.9717	0.47442	0.0:0.9129:0.0:0.0871	.	15	Q6ZVZ8	ASB18_HUMAN	H	15	ENSP00000386532:D15H;ENSP00000410021:D15H	ENSP00000386532:D15H	D	-	1	0	ASB18	236837685	0.034000	0.19679	0.014000	0.15608	0.103000	0.19146	1.904000	0.39868	2.400000	0.81607	0.591000	0.81541	GAT		0.468	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		5	53	0	0	0	0.001984	0	5	53				
COL6A3	1293	broad.mit.edu	37	2	238253293	238253293	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:238253293C>T	ENST00000295550.4	-	36	7820	c.7368G>A	c.(7366-7368)acG>acA	p.T2456T	COL6A3_ENST00000353578.4_Silent_p.T2250T|COL6A3_ENST00000346358.4_Silent_p.T2256T|COL6A3_ENST00000347401.3_Silent_p.T2255T|COL6A3_ENST00000472056.1_Silent_p.T1849T|COL6A3_ENST00000409809.1_Silent_p.T2250T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2456	Nonhelical region.|VWFA 11. {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.T2456T(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)		ACCGGATCTCCGTGGTCACCT	0.547																																							uc002vwl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(7366-7368)ACG>ACA		alpha 3 type VI collagen isoform 1 precursor							58.0	59.0	59.0					2																	238253293		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253293C>T	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.7368G>A	2.37:g.238253293C>T						COL6A3_uc002vwo.2_Silent_p.T2250T|COL6A3_uc010znj.1_Silent_p.T1849T|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.T277T	p.T2456T	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)	36	7653	-		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)	2456			VWFA 11.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.7368G>A	CCDS33412.1																																																																																				0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	64	0	0	0	0.001168	0	6	64				
PER2	8864	broad.mit.edu	37	2	239161618	239161618	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:239161618C>T	ENST00000254657.3	-	19	3325	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1016	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.A1016T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCTACAGCTGCTGTCTCTGTG	0.637																																							uc002vyc.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(3046-3048)GCA>ACA		period 2							69.0	77.0	74.0					2																	239161618		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161618C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3046G>A	2.37:g.239161618C>T	ENSP00000254657:p.Ala1016Thr					PER2_uc010znv.1_Missense_Mutation_p.A1016T	p.A1016T	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	3283	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1016					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.3046G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	7.984	0.751887	0.15778	.	.	ENSG00000132326	ENST00000254657	T	0.11169	2.8	4.14	1.5	0.22942	.	2.857300	0.02192	N	0.061411	T	0.03053	0.0090	N	0.00237	-1.79	0.09310	N	0.999999	B;B	0.19445	0.036;0.02	B;B	0.12837	0.008;0.004	T	0.21381	-1.0247	10	0.40728	T	0.16	-0.058	5.3454	0.16006	0.1752:0.673:0.0:0.1517	.	1016;1016	B4DH14;O15055	.;PER2_HUMAN	T	1016	ENSP00000254657:A1016T	ENSP00000254657:A1016T	A	-	1	0	PER2	238826357	0.000000	0.05858	0.004000	0.12327	0.131000	0.20780	0.026000	0.13599	0.657000	0.30906	0.655000	0.94253	GCA		0.637	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		13	73	0	0	0	0.00245	0	13	73				
ZNF343	79175	broad.mit.edu	37	20	2464827	2464827	+	Silent	SNP	C	C	A	rs376214760		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:2464827C>A	ENST00000278772.4	-	6	1267	c.780G>T	c.(778-780)ccG>ccT	p.P260P	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	260					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.P260P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AGAGGGTCCTCGGGTTTGTAA	0.433																																							uc002wge.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(778-780)CCG>CCT		zinc finger protein 343							90.0	90.0	90.0					20																	2464827		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464827C>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.780G>T	20.37:g.2464827C>A						ZNF343_uc010gao.1_Silent_p.P260P|ZNF343_uc002wgd.1_Silent_p.P170P	p.P260P	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			6	1268	-			260					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.780G>T	CCDS13028.1																																																																																				0.433	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		5	61	1	0	0.00116845	0.001168	0.00142726	5	61				
RASSF2	9770	broad.mit.edu	37	20	4778672	4778672	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:4778672T>A	ENST00000379400.3	-	4	314	c.119A>T	c.(118-120)cAg>cTg	p.Q40L	RASSF2_ENST00000379376.2_Missense_Mutation_p.Q40L|RASSF2_ENST00000478553.1_5'Flank	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	40					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q40L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GTGCCGGAGCTGTAAATTCTG	0.502																																					Melanoma(158;1891 3343 50738)	Melanoma(158;1891 3343 50738)	uc002wld.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(118-120)CAG>CTG		Ras association domain family 2							101.0	99.0	100.0					20																	4778672		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4778672T>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.119A>T	20.37:g.4778672T>A	ENSP00000368710:p.Gln40Leu					RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.Q40L	p.Q40L	NM_170774	NP_739580	P50749	RASF2_HUMAN			3	173	-			40					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.119A>T	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377364	0.82682	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.28895	1.59;1.59	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.66368	-0.5941	10	0.87932	D	0	.	13.7005	0.62606	0.0:0.0:0.0:1.0	.	40	P50749	RASF2_HUMAN	L	40	ENSP00000368710:Q40L;ENSP00000368684:Q40L	ENSP00000368684:Q40L	Q	-	2	0	RASSF2	4726672	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.413000	0.80104	2.107000	0.64212	0.379000	0.24179	CAG		0.502	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		6	25	0	0	0	0.001168	0	6	25				
PROKR2	128674	broad.mit.edu	37	20	5283320	5283320	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:5283320A>T	ENST00000217270.3	-	2	520	c.521T>A	c.(520-522)aTc>aAc	p.I174N	PROKR2_ENST00000546004.1_Missense_Mutation_p.I174N	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	174					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.I174N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GACCAAGGCGATCAGGAAGGA	0.488										HNSCC(71;0.22)																													uc010zqw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(520-522)ATC>AAC		prokineticin receptor 2							137.0	143.0	141.0					20																	5283320		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283320A>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.521T>A	20.37:g.5283320A>T	ENSP00000217270:p.Ile174Asn	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.I174N|PROKR2_uc010zqy.1_Missense_Mutation_p.I174N	p.I174N	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	521	-			174			Helical; Name=4; (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.521T>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815343	0.70912	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.76578	-1.03;-1.03	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.045719	0.85682	D	0.000000	D	0.87759	0.6258	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89346	0.3657	10	0.87932	D	0	.	13.033	0.58854	1.0:0.0:0.0:0.0	.	174	Q8NFJ6	PKR2_HUMAN	N	174	ENSP00000440790:I174N;ENSP00000217270:I174N	ENSP00000217270:I174N	I	-	2	0	PROKR2	5231320	1.000000	0.71417	0.997000	0.53966	0.732000	0.41865	6.998000	0.76277	1.977000	0.57605	0.533000	0.62120	ATC		0.488	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		7	94	0	0	0	0.00308	0	7	94				
MCM8	84515	broad.mit.edu	37	20	5966774	5966774	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:5966774A>T	ENST00000378896.3	+	16	2537	c.2160A>T	c.(2158-2160)acA>acT	p.T720T	MCM8_ENST00000378883.1_Silent_p.T673T|MCM8_ENST00000378886.2_Silent_p.T760T|MCM8_ENST00000265187.4_Silent_p.T704T	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	720					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T704T(1)|p.T720T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTCGTCTGACAGAGGTTTGTT	0.408																																							uc002wmi.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2158-2160)ACA>ACT		minichromosome maintenance complex component 8							98.0	94.0	95.0					20																	5966774		2203	4300	6503	SO:0001819	synonymous_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5966774A>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2160A>T	20.37:g.5966774A>T						MCM8_uc002wmj.2_Silent_p.T704T|MCM8_uc002wmk.2_Silent_p.T760T|MCM8_uc002wml.2_Silent_p.T720T|MCM8_uc010gbp.2_Silent_p.T673T|MCM8_uc002wmm.2_Silent_p.T258T	p.T720T	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			16	2537	+			720					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	c.2160A>T	CCDS13094.1																																																																																				0.408	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		4	37	0	0	0	0.000248	0	4	37				
TTLL9	164395	broad.mit.edu	37	20	30512840	30512840	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:30512840G>A	ENST00000375938.4	+	9	946	c.693G>A	c.(691-693)gtG>gtA	p.V231V	TTLL9_ENST00000375921.2_Silent_p.V158V|TTLL9_ENST00000310998.4_Silent_p.V181V|TTLL9_ENST00000375922.4_Silent_p.V158V|TTLL9_ENST00000375934.4_Silent_p.V213V|TTLL9_ENST00000535842.1_Silent_p.V231V			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	231	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.V176V(1)|p.V231V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGTCTATGTGCTGGTGATGT	0.522																																							uc010gdx.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(691-693)GTG>GTA		tubulin tyrosine ligase-like family, member 9							66.0	66.0	66.0					20																	30512840		1957	4132	6089	SO:0001819	synonymous_variant	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30512840G>A	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.693G>A	20.37:g.30512840G>A						TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.V118V|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	p.V231V	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		9	946	+			231			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	ENST00000375938.4	37	c.693G>A	CCDS42863.1																																																																																				0.522	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		4	23	0	0	0	0.000602	0	4	23				
BPIFA1	51297	broad.mit.edu	37	20	31828099	31828099	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:31828099C>G	ENST00000354297.4	+	5	560	c.489C>G	c.(487-489)atC>atG	p.I163M	BPIFA1_ENST00000375422.2_Missense_Mutation_p.I163M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.I163M	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	163					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.I163M(1)									CTGCAGAAATCTTAGCTGTGA	0.557																																							uc002wyv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(487-489)ATC>ATG		palate, lung and nasal epithelium associated							195.0	187.0	190.0					20																	31828099		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31828099C>G	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.489C>G	20.37:g.31828099C>G	ENSP00000346251:p.Ile163Met					PLUNC_uc002wyt.3_Missense_Mutation_p.I163M|PLUNC_uc002wyu.3_Missense_Mutation_p.I163M	p.I163M	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			5	559	+			163					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.489C>G	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532872	0.45073	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.07021	3.23;3.23;3.23	4.92	0.505	0.16953	.	1.323670	0.04802	N	0.433679	T	0.13114	0.0318	L	0.47190	1.495	0.09310	N	1	P	0.50369	0.934	P	0.50405	0.64	T	0.19128	-1.0315	10	0.66056	D	0.02	-1.3134	3.9526	0.09375	0.3207:0.492:0.0:0.1873	.	163	Q9NP55	BPIA1_HUMAN	M	163;163;163;149	ENSP00000364571:I163M;ENSP00000346251:I163M;ENSP00000364562:I163M	ENSP00000346251:I163M	I	+	3	3	BPIFA1	31291760	0.003000	0.15002	0.001000	0.08648	0.179000	0.23085	0.123000	0.15708	0.031000	0.15407	-0.152000	0.13540	ATC		0.557	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		36	132	0	0	0	0.004289	0	36	132				
AHCY	191	broad.mit.edu	37	20	32873372	32873372	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:32873372C>T	ENST00000217426.2	-	9	1118	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	AHCY_ENST00000538132.1_Silent_p.L319L|CTD-3216D2.5_ENST00000609218.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	347					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)	p.L347L(1)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGCACAACCCAGGTTGACCA	0.612																																							uc002xai.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1039-1041)CTG>CTA		adenosylhomocysteinase isoform 1							78.0	67.0	71.0					20																	32873372		2203	4300	6503	SO:0001819	synonymous_variant	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32873372C>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1041G>A	20.37:g.32873372C>T						AHCY_uc002xaj.2_Silent_p.L319L	p.L347L	NM_000687	NP_000678	P23526	SAHH_HUMAN			9	1180	-			347					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	c.1041G>A	CCDS13233.1																																																																																				0.612	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		12	38	0	0	0	0.00245	0	12	38				
DLGAP4	22839	broad.mit.edu	37	20	35061089	35061089	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:35061089C>G	ENST00000373907.2	+	2	1168	c.969C>G	c.(967-969)tgC>tgG	p.C323W	DLGAP4_ENST00000339266.5_Missense_Mutation_p.C323W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.C323W|DLGAP4_ENST00000373913.3_Missense_Mutation_p.C323W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	323					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.C323W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAAATCCTGCCACCAGGGTC	0.612																																							uc002xff.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(967-969)TGC>TGG		disks large-associated protein 4 isoform a							32.0	33.0	33.0					20																	35061089		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35061089C>G	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.969C>G	20.37:g.35061089C>G	ENSP00000363014:p.Cys323Trp					DLGAP4_uc010zvp.1_Missense_Mutation_p.C323W	p.C323W	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	1404	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	323					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.969C>G		.	.	.	.	.	.	.	.	.	.	C	14.23	2.474651	0.43942	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.27	2.93	0.34026	.	0.044965	0.85682	D	0.000000	D	0.93180	0.7828	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92661	0.6141	10	0.66056	D	0.02	.	9.8298	0.40934	0.0:0.7502:0.0:0.2498	.	323	Q9Y2H0-1	.	W	323	ENSP00000363023:C323W;ENSP00000384954:C323W;ENSP00000363014:C323W;ENSP00000341633:C323W	ENSP00000341633:C323W	C	+	3	2	DLGAP4	34494503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.193000	0.32162	1.206000	0.43276	0.561000	0.74099	TGC		0.612	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		4	14	0	0	0	0.000248	0	4	14				
MROH8	140699	broad.mit.edu	37	20	35748921	35748921	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:35748921C>G	ENST00000400441.3	-	17	2214	c.2215G>C	c.(2215-2217)Ggc>Cgc	p.G739R	MROH8_ENST00000441008.2_Missense_Mutation_p.G725R|MROH8_ENST00000217333.8_Missense_Mutation_p.G568R			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	308								p.G739R(1)									ACAAAAAAGCCTGCAGATGTG	0.443																																							uc010zvu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2245-2247)GGC>CGC		hypothetical protein LOC140699 isoform 1							68.0	66.0	67.0					20																	35748921		1919	4134	6053	SO:0001583	missense	140699							g.chr20:35748921C>G	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2215G>C	20.37:g.35748921C>G	ENSP00000383291:p.Gly739Arg					C20orf132_uc002xgk.2_Missense_Mutation_p.G371R	p.G749R	NM_152503	NP_689716	Q9H579	CT132_HUMAN			19	2336	-		Myeloproliferative disorder(115;0.00878)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.2245G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.61|19.61|19.61	3.860672|3.860672|3.860672	0.71834|0.71834|0.71834	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811|ENST00000417458	T;T;T|.|.	0.42513|.|.	0.97;0.97;0.97|.|.	5.54|5.54|5.54	5.54|5.54|5.54	0.83059|0.83059|0.83059	.|.|.	0.381187|.|.	0.25250|.|.	N|.|.	0.032022|.|.	T|T|T	0.59609|0.59609|0.59609	0.2206|0.2206|0.2206	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.40887|0.40887|0.40887	D|D|D	0.984046|0.984046|0.984046	D;D|.|.	0.76494|.|.	0.999;0.998|.|.	D;D|.|.	0.69654|.|.	0.96;0.965|.|.	T|T|T	0.56481|0.56481|0.56481	-0.7972|-0.7972|-0.7972	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-14.3036|-14.3036|-14.3036	14.9899|14.9899|14.9899	0.71377|0.71377|0.71377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	739;573|.|.	E7ETR9;Q9H579-2|.|.	.;.|.|.	R|H|T	725;739;568|765|366	ENSP00000392144:G725R;ENSP00000383291:G739R;ENSP00000217333:G568R|.|.	ENSP00000217333:G568R|.|.	G|Q|R	-|-|-	1|3|2	0|2|0	C20orf132|C20orf132|C20orf132	35182335|35182335|35182335	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.959000|0.959000|0.959000	0.62525|0.62525|0.62525	3.638000|3.638000|3.638000	0.54332|0.54332|0.54332	2.621000|2.621000|2.621000	0.88768|0.88768|0.88768	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|CAG|AGG		0.443	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		4	12	0	0	0	0.001984	0	4	12				
RPN2	6185	broad.mit.edu	37	20	35832307	35832307	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:35832307A>G	ENST00000237530.6	+	5	810	c.499A>G	c.(499-501)Aca>Gca	p.T167A	RPN2_ENST00000373622.5_Missense_Mutation_p.T135A	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	167					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)	p.T167A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GGCTCTGCAGACAGCATCCCA	0.512																																							uc002xgp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(499-501)ACA>GCA		ribophorin II isoform 1 precursor							125.0	91.0	103.0					20																	35832307		2203	4300	6503	SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35832307A>G	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.499A>G	20.37:g.35832307A>G	ENSP00000237530:p.Thr167Ala					RPN2_uc002xgo.3_Missense_Mutation_p.T167A|RPN2_uc010gfw.2_Missense_Mutation_p.T10A|RPN2_uc002xgq.2_Missense_Mutation_p.T135A	p.T167A	NM_002951	NP_002942	P04844	RPN2_HUMAN			5	803	+		Myeloproliferative disorder(115;0.00878)	167			Lumenal (Potential).		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	c.499A>G	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772086	0.49680	.	.	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.99	4.99	0.66335	.	0.053328	0.64402	N	0.000001	T	0.32615	0.0835	L	0.29908	0.895	0.50632	D	0.999886	P;P;P;B	0.37207	0.515;0.515;0.587;0.046	B;B;B;B	0.42319	0.194;0.153;0.383;0.153	T	0.05989	-1.0852	10	0.07813	T	0.8	-8.6972	12.6861	0.56948	1.0:0.0:0.0:0.0	.	42;135;167;167	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	A	10;167;135;183;183	ENSP00000399137:T10A;ENSP00000237530:T167A;ENSP00000362724:T135A;ENSP00000362735:T183A	ENSP00000237530:T167A	T	+	1	0	RPN2	35265721	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.610000	0.74178	2.093000	0.63338	0.460000	0.39030	ACA		0.512	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		6	24	0	0	0	0.00308	0	6	24				
SLC32A1	140679	broad.mit.edu	37	20	37356650	37356650	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:37356650A>T	ENST00000217420.1	+	2	1209	c.946A>T	c.(946-948)Agc>Tgc	p.S316C		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	316					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.S316C(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)	CATCGTGTTCAGCTACACGTC	0.567																																							uc002xjc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(946-948)AGC>TGC		solute carrier family 32, member 1	Glycine(DB00145)						82.0	65.0	71.0					20																	37356650		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356650A>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.946A>T	20.37:g.37356650A>T	ENSP00000217420:p.Ser316Cys						p.S316C	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1209	+		Myeloproliferative disorder(115;0.00878)	316			Helical; (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.946A>T	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117274	0.37339	.	.	ENSG00000101438	ENST00000217420	T	0.02323	4.34	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	M	0.84585	2.705	0.80722	D	1	D	0.65815	0.995	D	0.68765	0.96	T	0.10268	-1.0637	10	0.22109	T	0.4	-32.0622	12.4544	0.55695	1.0:0.0:0.0:0.0	.	316	Q9H598	VIAAT_HUMAN	C	316	ENSP00000217420:S316C	ENSP00000217420:S316C	S	+	1	0	SLC32A1	36790064	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	9.263000	0.95617	1.910000	0.55303	0.379000	0.24179	AGC		0.567	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		4	32	0	0	0	0.001168	0	4	32				
PPP1R16B	26051	broad.mit.edu	37	20	37529274	37529274	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:37529274T>A	ENST00000299824.1	+	5	707	c.518T>A	c.(517-519)cTc>cAc	p.L173H	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.L173H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	173					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.L173H(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCATATGACCTCTGCGAGGAT	0.572																																							uc002xje.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(517-519)CTC>CAC		protein phosphatase 1 regulatory inhibitor							169.0	110.0	130.0					20																	37529274		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37529274T>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.518T>A	20.37:g.37529274T>A	ENSP00000299824:p.Leu173His					PPP1R16B_uc010ggc.2_Missense_Mutation_p.L173H	p.L173H	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			5	707	+		Myeloproliferative disorder(115;0.00878)	173					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.518T>A	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.6|27.6	4.847885|4.847885	0.91277|0.91277	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.56444|.	0.46;0.46|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71134|0.71134	0.3304|0.3304	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.81914|.	0.993;0.995|.	T|T	0.70835|0.70835	-0.4764|-0.4764	10|5	0.49607|.	T|.	0.09|.	.|.	15.1377|15.1377	0.72583|0.72583	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	173;173|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	H|T	173|116	ENSP00000299824:L173H;ENSP00000362428:L173H|.	ENSP00000299824:L173H|.	L|S	+|+	2|1	0|0	PPP1R16B|PPP1R16B	36962688|36962688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.868000|7.868000	0.87116|0.87116	2.217000|2.217000	0.71921|0.71921	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		5	38	0	0	0	0.001168	0	5	38				
RIMS4	140730	broad.mit.edu	37	20	43379220	43379220	+	IGR	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:43379220G>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.R245L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.R245L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GTGGTCCTGCGCTTCCTCGTT	0.726																																							uc002xmr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CGC>CTC		potassium family, subfamily K, member 15							70.0	61.0	64.0					20																	43379220		2203	4300	6503	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43379220G>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43379220G>T							p.R245L	NM_022358	NP_071753	Q9H427	KCNKF_HUMAN			2	798	+		Myeloproliferative disorder(115;0.0122)	245			Cytoplasmic (Potential).		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.734G>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913343	0.72983	.	.	ENSG00000124249	ENST00000372861	T	0.28666	1.6	4.65	4.65	0.58169	Ion transport 2 (1);	0.000000	0.64402	U	0.000001	T	0.62853	0.2462	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71530	-0.4565	10	0.66056	D	0.02	.	17.7248	0.88362	0.0:0.0:1.0:0.0	.	245	Q9H427	KCNKF_HUMAN	L	245	ENSP00000361952:R245L	ENSP00000361952:R245L	R	+	2	0	KCNK15	42812634	1.000000	0.71417	0.998000	0.56505	0.076000	0.17211	9.258000	0.95555	2.411000	0.81874	0.655000	0.94253	CGC		0.726	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		5	48	1	0	8.12818e-05	0.001984	0.000110582	5	48				
PIGT	51604	broad.mit.edu	37	20	44048032	44048032	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:44048032C>T	ENST00000279036.6	+	4	671	c.591C>T	c.(589-591)tcC>tcT	p.S197S	PIGT_ENST00000372689.5_Silent_p.S197S|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000535404.1_Intron|PIGT_ENST00000543458.2_Silent_p.S141S|PIGT_ENST00000279035.9_Silent_p.S95S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	197					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.S197S(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCTGTAGTTCCAAGGTGAGGC	0.602																																							uc002xoh.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(589-591)TCC>TCT		phosphatidylinositol glycan anchor biosynthesis,							50.0	53.0	52.0					20																	44048032		2203	4300	6503	SO:0001819	synonymous_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44048032C>T		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.591C>T	20.37:g.44048032C>T						PIGT_uc010ghb.1_Silent_p.S187S|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Intron|PIGT_uc010ghc.1_Intron|PIGT_uc010ghe.1_Silent_p.S160S|PIGT_uc010ghf.1_Intron|PIGT_uc002xoj.1_Silent_p.S197S|PIGT_uc002xok.1_Intron|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_5'UTR|PIGT_uc010zww.1_Silent_p.S141S|PIGT_uc010zwx.1_Intron|PIGT_uc010zwy.1_Silent_p.S95S|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_Missense_Mutation_p.P25L|PIGT_uc002xol.1_Silent_p.S53S|PIGT_uc010zxb.1_5'Flank	p.S197S	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			4	664	+		Myeloproliferative disorder(115;0.0122)	197			Lumenal (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	c.591C>T	CCDS13353.1																																																																																				0.602	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		4	37	0	0	0	0.000248	0	4	37				
SLC12A5	57468	broad.mit.edu	37	20	44663650	44663650	+	Missense_Mutation	SNP	A	A	T	rs376521903		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:44663650A>T	ENST00000454036.2	+	2	234	c.185A>T	c.(184-186)gAg>gTg	p.E62V	SLC12A5_ENST00000372315.1_Missense_Mutation_p.E39V|SLC12A5_ENST00000243964.3_Missense_Mutation_p.E39V|SLC12A5_ENST00000608944.1_5'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	62					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.E39V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGGGAAAGGAGTATGATGGC	0.532																																							uc010zxl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(184-186)GAG>GTG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)	A	VAL/GLU,VAL/GLU	0,4406		0,0,2203	281.0	190.0	221.0		185,116	4.9	1.0	20		221	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC12A5	NM_001134771.1,NM_020708.4	121,121	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign,benign	62/1140,39/1117	44663650	1,13005	2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44663650A>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.185A>T	20.37:g.44663650A>T	ENSP00000387694:p.Glu62Val					SLC12A5_uc002xra.2_Missense_Mutation_p.E39V|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.E39V	p.E62V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			2	261	+		Myeloproliferative disorder(115;0.0122)	62			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.185A>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.138560	0.37728	0.0	1.16E-4	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.95171	-1.91;-3.22;-3.63;-1.89	4.88	4.88	0.63580	.	0.062610	0.64402	D	0.000004	D	0.89273	0.6668	N	0.19112	0.55	0.53005	D	0.999969	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.15052	0.005;0.012;0.005	D	0.85871	0.1416	10	0.49607	T	0.09	.	13.7397	0.62840	1.0:0.0:0.0:0.0	.	62;39;39	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	V	62;39;39;39	ENSP00000387694:E62V;ENSP00000361389:E39V;ENSP00000446091:E39V;ENSP00000243964:E39V	ENSP00000243964:E39V	E	+	2	0	SLC12A5	44097057	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.534000	0.73833	2.164000	0.68074	0.533000	0.62120	GAG		0.532	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			7	53	0	0	0	0.00308	0	7	53				
ZNF334	55713	broad.mit.edu	37	20	45130108	45130108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:45130108C>A	ENST00000347606.4	-	5	2052	c.1870G>T	c.(1870-1872)Gga>Tga	p.G624*	ZNF334_ENST00000457685.2_Nonsense_Mutation_p.G586*|ZNF334_ENST00000593880.1_Nonsense_Mutation_p.G647*	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	624					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.G624*(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGTTTCTCTCCTGTGTGAATT	0.428																																							uc002xsc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1870-1872)GGA>TGA		zinc finger protein 334 isoform a							134.0	128.0	130.0					20																	45130108		2203	4300	6503	SO:0001587	stop_gained	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130108C>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1870G>T	20.37:g.45130108C>A	ENSP00000255129:p.Gly624*					ZNF334_uc002xsa.2_Nonsense_Mutation_p.G647*|ZNF334_uc002xsb.2_Nonsense_Mutation_p.G586*|ZNF334_uc002xsd.2_Nonsense_Mutation_p.G586*|ZNF334_uc010ghl.2_Nonsense_Mutation_p.G623*	p.G624*	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	2054	-		Myeloproliferative disorder(115;0.0122)	624					Q5T6U2|Q9NVW4	Nonsense_Mutation	SNP	ENST00000347606.4	37	c.1870G>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	49	15.000892	0.99818	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	.	.	.	3.23	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.3185	0.54971	0.0:1.0:0.0:0.0	.	.	.	.	X	586;624	.	ENSP00000255129:G624X	G	-	1	0	ZNF334	44563515	0.026000	0.19158	0.994000	0.49952	0.995000	0.86356	1.405000	0.34635	1.798000	0.52647	0.591000	0.81541	GGA		0.428	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			13	74	1	0	1.5842e-08	0.001855	2.71441e-08	13	74				
TSHZ2	128553	broad.mit.edu	37	20	51871053	51871053	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:51871053G>T	ENST00000371497.5	+	2	1943	c.1056G>T	c.(1054-1056)ttG>ttT	p.L352F	TSHZ2_ENST00000329613.6_Missense_Mutation_p.L349F|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L349F|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	352					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L352F(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACGCCAACTTGCAGTTGTCCT	0.493																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1054-1056)TTG>TTT		teashirt zinc finger homeobox 2							70.0	76.0	74.0					20																	51871053		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871053G>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1056G>T	20.37:g.51871053G>T	ENSP00000360552:p.Leu352Phe						p.L352F	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2012	+			352					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1056G>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	8.613	0.889604	0.17540	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.38	5.68	2.56	0.30785	.	0.685719	0.14419	N	0.320775	T	0.11452	0.0279	L	0.36672	1.1	0.42572	D	0.993188	B	0.34103	0.437	B	0.35470	0.203	T	0.13308	-1.0514	10	0.09843	T	0.71	-13.015	6.3088	0.21153	0.2204:0.1304:0.6492:0.0	.	352	Q9NRE2	TSH2_HUMAN	F	352;349	ENSP00000360552:L352F;ENSP00000333114:L349F	ENSP00000333114:L349F	L	+	3	2	TSHZ2	51304460	0.972000	0.33761	0.205000	0.23548	0.362000	0.29581	0.790000	0.26900	0.281000	0.22233	0.643000	0.83706	TTG		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		3	91	1	0	3.59834e-05	0.001168	5.08422e-05	3	91				
TSHZ2	128553	broad.mit.edu	37	20	51872417	51872417	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:51872417C>T	ENST00000371497.5	+	2	3307	c.2420C>T	c.(2419-2421)aCc>aTc	p.T807I	TSHZ2_ENST00000329613.6_Missense_Mutation_p.T804I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.T804I|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	807					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T807I(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGCCACCACCCCAAAGCCA	0.547																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2419-2421)ACC>ATC		teashirt zinc finger homeobox 2							92.0	86.0	88.0					20																	51872417		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872417C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2420C>T	20.37:g.51872417C>T	ENSP00000360552:p.Thr807Ile						p.T807I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3376	+			807					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2420C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025139	0.75390	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.18016	2.24;2.24	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.52381	-0.8583	10	0.87932	D	0	-12.8955	18.7008	0.91619	0.0:1.0:0.0:0.0	.	807	Q9NRE2	TSH2_HUMAN	I	807;804;333	ENSP00000360552:T807I;ENSP00000333114:T804I	ENSP00000333114:T804I	T	+	2	0	TSHZ2	51305824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.482000	0.81143	2.397000	0.81536	0.643000	0.83706	ACC		0.547	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		19	50	0	0	0	0.006122	0	19	50				
ZNF217	7764	broad.mit.edu	37	20	52198754	52198754	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:52198754C>A	ENST00000371471.2	-	2	1037	c.612G>T	c.(610-612)caG>caT	p.Q204H	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.Q204H			O75362	ZN217_HUMAN	zinc finger protein 217	204					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.Q204H(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)			CCGCGTGCACCTGGACGACCT	0.493																																							uc002xwq.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(610-612)CAG>CAT		zinc finger protein 217							155.0	154.0	154.0					20																	52198754		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198754C>A	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.612G>T	20.37:g.52198754C>A	ENSP00000360526:p.Gln204His					ZNF217_uc010gij.1_Missense_Mutation_p.Q196H	p.Q204H	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		1	883	-	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)		204					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.612G>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968614	0.34754	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10860	2.83;2.83	5.15	4.2	0.49525	.	0.133263	0.50627	D	0.000108	T	0.19846	0.0477	L	0.32530	0.975	0.50813	D	0.999897	D	0.89917	1.0	D	0.91635	0.999	T	0.00329	-1.1813	10	0.72032	D	0.01	-39.2187	9.5498	0.39304	0.0:0.8399:0.0:0.1601	.	204	O75362	ZN217_HUMAN	H	204	ENSP00000360526:Q204H;ENSP00000304308:Q204H	ENSP00000304308:Q204H	Q	-	3	2	ZNF217	51632161	1.000000	0.71417	0.991000	0.47740	0.043000	0.13939	1.845000	0.39279	2.560000	0.86352	0.591000	0.81541	CAG		0.493	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		10	149	1	0	2.17888e-05	0.006214	3.14511e-05	10	149				
CYP24A1	1591	broad.mit.edu	37	20	52782353	52782353	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:52782353A>T	ENST00000216862.3	-	5	1053	c.660T>A	c.(658-660)taT>taA	p.Y220*	CYP24A1_ENST00000395954.3_Nonsense_Mutation_p.Y78*|CYP24A1_ENST00000395955.3_Nonsense_Mutation_p.Y220*	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	220					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.Y220*(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ATCTCTTCTCATACAACACGA	0.403																																							uc002xwv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(658-660)TAT>TAA		cytochrome P450 family 24 subfamily A	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						122.0	109.0	114.0					20																	52782353		2203	4300	6503	SO:0001587	stop_gained	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52782353A>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.660T>A	20.37:g.52782353A>T	ENSP00000216862:p.Tyr220*					CYP24A1_uc002xwu.1_Nonsense_Mutation_p.Y78*|CYP24A1_uc002xww.2_Nonsense_Mutation_p.Y220*	p.Y220*	NM_000782	NP_000773	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		5	1058	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		220					Q15807|Q32ML3|Q5I2W7	Nonsense_Mutation	SNP	ENST00000216862.3	37	c.660T>A	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	A	37	5.998484	0.97189	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	.	.	.	5.13	0.278	0.15673	.	0.219190	0.40222	N	0.001143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.4069	9.02	0.36193	0.6196:0.0:0.3804:0.0	.	.	.	.	X	220;220;78	.	ENSP00000216862:Y220X	Y	-	3	2	CYP24A1	52215760	0.911000	0.30947	0.944000	0.38274	0.972000	0.66771	0.135000	0.15952	-0.149000	0.11215	0.455000	0.32223	TAT		0.403	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			5	54	0	0	0	0.000602	0	5	54				
MC3R	4159	broad.mit.edu	37	20	54824621	54824621	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:54824621C>T	ENST00000243911.2	+	1	834	c.722C>T	c.(721-723)gCa>gTa	p.A241V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	241					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.A278V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATGAAGGGGGCAGTCACCATC	0.612																																							uc002xxb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(721-723)GCA>GTA		melanocortin 3 receptor							248.0	156.0	187.0					20																	54824621		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824621C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.722C>T	20.37:g.54824621C>T	ENSP00000243911:p.Ala241Val						p.A241V	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	834	+			278			Cytoplasmic (Potential).		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.722C>T	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774582	0.90108	.	.	ENSG00000124089	ENST00000243911	T	0.72835	-0.69	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	D	0.85496	0.5710	M	0.82823	2.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87949	0.2722	10	0.72032	D	0.01	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	278	P41968	MC3R_HUMAN	V	241	ENSP00000243911:A241V	ENSP00000243911:A241V	A	+	2	0	MC3R	54258028	1.000000	0.71417	0.923000	0.36655	0.979000	0.70002	7.624000	0.83124	2.259000	0.74868	0.555000	0.69702	GCA		0.612	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			6	60	0	0	0	0.001168	0	6	60				
CTCFL	140690	broad.mit.edu	37	20	56098207	56098207	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:56098207A>T	ENST00000608263.1	-	2	1332	c.671T>A	c.(670-672)gTg>gAg	p.V224E	CTCFL_ENST00000371196.2_Missense_Mutation_p.V224E|CTCFL_ENST00000422869.2_Missense_Mutation_p.V224E|CTCFL_ENST00000243914.3_Missense_Mutation_p.V224E|CTCFL_ENST00000609232.1_Missense_Mutation_p.V224E|CTCFL_ENST00000429804.3_Missense_Mutation_p.V224E|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Missense_Mutation_p.V19E|CTCFL_ENST00000432255.2_Missense_Mutation_p.V224E|CTCFL_ENST00000608440.1_Missense_Mutation_p.V224E|CTCFL_ENST00000481655.2_Missense_Mutation_p.V224E|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000423479.3_Missense_Mutation_p.V224E|CTCFL_ENST00000608158.1_Missense_Mutation_p.V224E|CTCFL_ENST00000539382.1_Missense_Mutation_p.V19E|CTCFL_ENST00000608425.1_Missense_Mutation_p.V224E	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	224					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.V224E(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTGTTCTTCCACATTTGAATT	0.393																																							uc010gix.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(670-672)GTG>GAG		CCCTC-binding factor-like protein							214.0	197.0	202.0					20																	56098207		2202	4300	6502	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56098207A>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.671T>A	20.37:g.56098207A>T	ENSP00000476783:p.Val224Glu					CTCFL_uc010giw.1_Missense_Mutation_p.V224E|CTCFL_uc002xym.2_Missense_Mutation_p.V224E|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.V224E|CTCFL_uc010gjb.1_Missense_Mutation_p.V224E|CTCFL_uc010gjc.1_Missense_Mutation_p.V224E|CTCFL_uc010gjd.1_Missense_Mutation_p.V224E|CTCFL_uc010gje.2_Missense_Mutation_p.V224E|CTCFL_uc010gjf.2_Missense_Mutation_p.V19E|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.V224E|CTCFL_uc010gji.1_Missense_Mutation_p.V19E|CTCFL_uc010gjj.1_Missense_Mutation_p.V224E|CTCFL_uc010gjk.1_Missense_Mutation_p.V224E|CTCFL_uc010gjl.1_Missense_Mutation_p.V224E	p.V224E	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		2	1333	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		224					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.671T>A	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.772142	0.31411	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.11063	2.81;2.84;2.84;3.01;2.87;3.17;2.85;3.48;2.88;2.86	4.94	-0.227	0.13102	.	1.629160	0.04199	N	0.329684	T	0.11750	0.0286	L	0.27053	0.805	0.09310	N	1	B;B;B;D;B;B;B;B	0.56035	0.01;0.011;0.009;0.974;0.004;0.009;0.004;0.01	B;B;B;P;B;B;B;B	0.51657	0.014;0.01;0.015;0.676;0.002;0.015;0.004;0.005	T	0.08597	-1.0714	10	0.56958	D	0.05	-1.2486	1.2496	0.01980	0.5345:0.1517:0.1678:0.146	.	224;224;224;224;224;224;224;224	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	E	224;224;224;224;224;224;224;224;19;224	ENSP00000415579:V224E;ENSP00000243914:V224E;ENSP00000360239:V224E;ENSP00000415329:V224E;ENSP00000392034:V224E;ENSP00000413713:V224E;ENSP00000403369:V224E;ENSP00000409344:V224E;ENSP00000439998:V19E;ENSP00000399061:V224E	ENSP00000243914:V224E	V	-	2	0	CTCFL	55531613	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.236000	0.17967	-0.359000	0.08150	0.482000	0.46254	GTG		0.393	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		19	147	0	0	0	0.001523	0	19	147				
PCK1	5105	broad.mit.edu	37	20	56138123	56138123	+	Missense_Mutation	SNP	C	C	A	rs377150721		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:56138123C>A	ENST00000319441.4	+	5	814	c.650C>A	c.(649-651)aCg>aAg	p.T217K	PCK1_ENST00000535860.1_Missense_Mutation_p.T85K|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	217					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.T217K(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGGAGCTGACGCTCATCGCC	0.627																																							uc002xyn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(649-651)ACG>AAG		cytosolic phosphoenolpyruvate carboxykinase 1							61.0	61.0	61.0					20																	56138123		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138123C>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.650C>A	20.37:g.56138123C>A	ENSP00000319814:p.Thr217Lys					PCK1_uc010zzm.1_Intron	p.T217K	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		5	813	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		217					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.650C>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755761	0.69648	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.03831	3.79;3.79	5.06	5.06	0.68205	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.045838	0.85682	D	0.000000	T	0.07188	0.0182	L	0.37697	1.125	0.80722	D	1	B	0.22146	0.065	B	0.37888	0.26	T	0.10753	-1.0616	10	0.02654	T	1	-34.3053	18.803	0.92025	0.0:1.0:0.0:0.0	.	217	P35558	PCKGC_HUMAN	K	217;85	ENSP00000319814:T217K;ENSP00000444342:T85K	ENSP00000319814:T217K	T	+	2	0	PCK1	55571529	1.000000	0.71417	0.978000	0.43139	0.859000	0.49053	5.639000	0.67868	2.520000	0.84964	0.655000	0.94253	ACG		0.627	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			9	74	1	0	1.12685e-05	0.004482	1.66247e-05	9	74				
ZNF831	128611	broad.mit.edu	37	20	57766799	57766799	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:57766799C>T	ENST00000371030.2	+	1	725	c.725C>T	c.(724-726)tCg>tTg	p.S242L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	242							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S242L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAAGGCGCCTCGGAGAGACCC	0.687																																							uc002yan.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(724-726)TCG>TTG		zinc finger protein 831							31.0	36.0	35.0					20																	57766799		1893	4111	6004	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766799C>T	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.725C>T	20.37:g.57766799C>T	ENSP00000360069:p.Ser242Leu						p.S242L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	725	+	all_lung(29;0.0085)		242					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.725C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	2.185	-0.386556	0.04966	.	.	ENSG00000124203	ENST00000371030	T	0.05081	3.5	5.01	1.9	0.25705	.	.	.	.	.	T	0.05318	0.0141	L	0.44542	1.39	0.09310	N	1	B	0.26547	0.152	B	0.16722	0.016	T	0.40664	-0.9551	9	0.16896	T	0.51	0.0836	7.0665	0.25156	0.1434:0.6836:0.0:0.1729	.	242	Q5JPB2	ZN831_HUMAN	L	242	ENSP00000360069:S242L	ENSP00000360069:S242L	S	+	2	0	ZNF831	57200194	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.051000	0.11885	1.074000	0.40909	0.555000	0.69702	TCG		0.687	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	67	0	0	0	0.001168	0	6	67				
PHACTR3	116154	broad.mit.edu	37	20	58348388	58348388	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:58348388G>T	ENST00000371015.1	+	6	1273	c.806G>T	c.(805-807)cGg>cTg	p.R269L	PHACTR3_ENST00000359926.3_Missense_Mutation_p.R266L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R228L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R158L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R228L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R228L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R158L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	269						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R269L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCTTCCCTCCGGGGCCAGCTC	0.647																																							uc002yau.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(805-807)CGG>CTG		phosphatase and actin regulator 3 isoform 1							85.0	80.0	82.0					20																	58348388		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348388G>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.806G>T	20.37:g.58348388G>T	ENSP00000360054:p.Arg269Leu					PHACTR3_uc002yat.2_Missense_Mutation_p.R266L|PHACTR3_uc010zzw.1_Missense_Mutation_p.R228L|PHACTR3_uc002yav.2_Missense_Mutation_p.R228L|PHACTR3_uc002yaw.2_Missense_Mutation_p.R228L|PHACTR3_uc002yax.2_Missense_Mutation_p.R158L	p.R269L	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1273	+	all_lung(29;0.00344)		269					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.806G>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795880	0.70452	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.83;1.84;1.48;1.85;1.85;1.85;1.48	5.13	5.13	0.70059	.	0.056902	0.64402	D	0.000003	T	0.56124	0.1964	M	0.71581	2.175	0.80722	D	1	D;P;P	0.76494	0.999;0.661;0.818	D;B;B	0.85130	0.997;0.44;0.44	T	0.56727	-0.7931	10	0.48119	T	0.1	-10.3867	17.5855	0.87980	0.0:0.0:1.0:0.0	.	158;269;266	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	L	266;269;158;228;228;228;158	ENSP00000353002:R266L;ENSP00000360054:R269L;ENSP00000379001:R158L;ENSP00000442483:R228L;ENSP00000347866:R228L;ENSP00000378998:R228L;ENSP00000354555:R158L	ENSP00000347866:R228L	R	+	2	0	PHACTR3	57781783	1.000000	0.71417	0.566000	0.28421	0.240000	0.25518	9.338000	0.96553	2.389000	0.81357	0.655000	0.94253	CGG		0.647	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		4	96	1	0	0.00116845	0.001168	0.00142726	4	96				
OPRL1	4987	broad.mit.edu	37	20	62724200	62724200	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:62724200G>T	ENST00000349451.3	+	4	539	c.127G>T	c.(127-129)Ggc>Tgc	p.G43C	OPRL1_ENST00000336866.2_Missense_Mutation_p.G43C|OPRL1_ENST00000355631.4_Missense_Mutation_p.G43C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	43					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)			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)					TGCCAGCCACGGCGCCTTCCT	0.637																																							uc002yic.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(127-129)GGC>TGC		opiate receptor-like 1							74.0	72.0	73.0					20																	62724200		2200	4285	6485	SO:0001583	missense	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.chr20:62724200G>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.127G>T	20.37:g.62724200G>T	ENSP00000336764:p.Gly43Cys					OPRL1_uc002yid.2_Missense_Mutation_p.G43C|OPRL1_uc002yif.3_Missense_Mutation_p.G43C	p.G43C	NM_182647	NP_872588	P41146	OPRX_HUMAN			3	529	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		43			Extracellular (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.127G>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	6.513	0.462806	0.12402	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.65178	-0.14;-0.14;-0.14	3.9	0.219	0.15274	.	0.664810	0.14786	N	0.298519	T	0.38639	0.1048	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19063	-1.0317	10	0.59425	D	0.04	.	9.1648	0.37046	0.3942:0.0:0.6058:0.0	.	43;43	P41146-2;P41146	.;OPRX_HUMAN	C	43	ENSP00000336843:G43C;ENSP00000347848:G43C;ENSP00000336764:G43C	ENSP00000336843:G43C	G	+	1	0	OPRL1	62194644	0.014000	0.17966	0.248000	0.24265	0.264000	0.26372	0.486000	0.22340	-0.650000	0.05423	-1.694000	0.00725	GGC		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		5	125	1	0	0.00116845	0.001168	0.00142726	5	125				
TPTE	7179	broad.mit.edu	37	21	10933919	10933919	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:10933919C>A	ENST00000361285.4	-	17	1289	c.960G>T	c.(958-960)aaG>aaT	p.K320N	TPTE_ENST00000342420.5_Missense_Mutation_p.K282N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.K302N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	320	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K320N(1)|p.K302N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTTACTTCCTTGGTGAAAA	0.338																																							uc002yip.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(958-960)AAG>AAT		transmembrane phosphatase with tensin homology							251.0	249.0	249.0					21																	10933919		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933919C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.960G>T	21.37:g.10933919C>A	ENSP00000355208:p.Lys320Asn					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K302N|TPTE_uc002yir.1_Missense_Mutation_p.K282N|TPTE_uc010gkv.1_Missense_Mutation_p.K182N	p.K320N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	17	1328	-			320			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.960G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.34	1.324197	0.24080	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.26957	1.7;1.7;1.7	2.07	0.162	0.14981	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.179437	0.47093	U	0.000257	T	0.30070	0.0753	L	0.49350	1.555	0.24679	N	0.993372	P;P;B	0.49961	0.93;0.93;0.387	P;P;B	0.55508	0.777;0.606;0.27	T	0.08513	-1.0718	10	0.40728	T	0.16	-10.6677	5.7768	0.18283	0.0:0.6831:0.0:0.3169	.	282;302;320	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	302;320;282	ENSP00000298232:K302N;ENSP00000355208:K320N;ENSP00000344441:K282N	ENSP00000298232:K302N	K	-	3	2	TPTE	9955790	0.906000	0.30813	0.302000	0.25058	0.545000	0.35147	0.015000	0.13355	0.026000	0.15269	0.194000	0.17425	AAG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			24	297	1	0	3.73988e-18	0.00632	7.32501e-18	24	297				
HSPA13	6782	broad.mit.edu	37	21	15750613	15750613	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:15750613G>A	ENST00000285667.3	-	3	554	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	HSPA13_ENST00000544452.1_Intron|HSPA13_ENST00000478035.1_5'Flank	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	163						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)	p.L163F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGCATTCCAAGATATGCCTCT	0.413																																							uc002yjt.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(487-489)CTT>TTT		heat shock protein 70kDa family member 13							114.0	102.0	106.0					21																	15750613		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15750613G>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.487C>T	21.37:g.15750613G>A	ENSP00000285667:p.Leu163Phe					HSPA13_uc011abx.1_Intron	p.L163F	NM_006948	NP_008879	P48723	HSP13_HUMAN			3	556	-			163					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.487C>T	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395846	0.62177	.	.	ENSG00000155304	ENST00000285667	T	0.01455	4.87	5.61	4.54	0.55810	.	0.061993	0.64402	D	0.000003	T	0.04588	0.0125	M	0.78049	2.395	0.80722	D	1	B	0.26120	0.142	B	0.29598	0.104	T	0.14364	-1.0475	10	0.87932	D	0	-16.8704	15.3928	0.74758	0.0778:0.0:0.9222:0.0	.	163	P48723	HSP13_HUMAN	F	163	ENSP00000285667:L163F	ENSP00000285667:L163F	L	-	1	0	HSPA13	14672484	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	5.301000	0.65727	2.631000	0.89168	0.655000	0.94253	CTT		0.413	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			6	35	0	0	0	0.001168	0	6	35				
NCAM2	4685	broad.mit.edu	37	21	22656612	22656612	+	Missense_Mutation	SNP	C	C	G	rs576610818		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:22656612C>G	ENST00000400546.1	+	3	478	c.229C>G	c.(229-231)Cgg>Ggg	p.R77G	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.R102G|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	77	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R77G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGTTAGGTCACGGTTAACCAT	0.398																																							uc002yld.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(229-231)CGG>GGG		neural cell adhesion molecule 2 precursor							124.0	117.0	119.0					21																	22656612		1886	4109	5995	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22656612C>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.229C>G	21.37:g.22656612C>G	ENSP00000383392:p.Arg77Gly					NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.R102G	p.R77G	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	3	478	+		Lung NSC(9;0.195)	77			Ig-like C2-type 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.229C>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114446	0.56505	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.67865	-0.29;-0.29	5.58	2.61	0.31194	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167812	0.49916	D	0.000140	T	0.65207	0.2669	N	0.26162	0.8	0.46981	D	0.999277	D;D	0.76494	0.999;0.999	D;D	0.68039	0.955;0.955	T	0.58842	-0.7565	10	0.30854	T	0.27	-14.5846	7.7334	0.28799	0.4708:0.4548:0.0:0.0744	.	102;77	B7Z841;O15394	.;NCAM2_HUMAN	G	77;102	ENSP00000383392:R77G;ENSP00000441887:R102G	ENSP00000383392:R77G	R	+	1	2	NCAM2	21578483	0.379000	0.25123	0.999000	0.59377	0.990000	0.78478	0.230000	0.17852	0.230000	0.21059	0.591000	0.81541	CGG		0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		3	36	0	0	0	0.004672	0	3	36				
NCAM2	4685	broad.mit.edu	37	21	22841100	22841100	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:22841100G>A	ENST00000400546.1	+	14	2141	c.1892G>A	c.(1891-1893)aGa>aAa	p.R631K	NCAM2_ENST00000284894.7_Missense_Mutation_p.R489K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	631	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R631K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTGAAATATAGAAGTGTAAGT	0.363																																							uc002yld.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1891-1893)AGA>AAA		neural cell adhesion molecule 2 precursor							132.0	125.0	127.0					21																	22841100		1820	4076	5896	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22841100G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1892G>A	21.37:g.22841100G>A	ENSP00000383392:p.Arg631Lys					NCAM2_uc011acb.1_Missense_Mutation_p.R489K	p.R631K	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	14	2141	+		Lung NSC(9;0.195)	631			Fibronectin type-III 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1892G>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271555	0.40194	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.57107	0.42;0.42	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.091450	0.64402	N	0.000001	T	0.29423	0.0733	N	0.03209	-0.39	0.80722	D	1	B;B	0.16603	0.018;0.018	B;B	0.11329	0.006;0.006	T	0.22591	-1.0212	10	0.07482	T	0.82	-30.7846	17.9816	0.89143	0.0:0.0:1.0:0.0	.	489;631	B7Z5K2;O15394	.;NCAM2_HUMAN	K	631;489	ENSP00000383392:R631K;ENSP00000284894:R489K	ENSP00000284894:R489K	R	+	2	0	NCAM2	21762971	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.563000	0.73964	2.601000	0.87937	0.655000	0.94253	AGA		0.363	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		3	30	0	0	0	0.004672	0	3	30				
ADAMTS5	11096	broad.mit.edu	37	21	28306945	28306945	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:28306945C>A	ENST00000284987.5	-	4	1650	c.1529G>T	c.(1528-1530)gGc>gTc	p.G510V	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	510	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G510V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GACATCCATGCCGGGACACAC	0.612																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1528-1530)GGC>GTC		ADAM metallopeptidase with thrombospondin type 1							102.0	82.0	89.0					21																	28306945		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306945C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1529G>T	21.37:g.28306945C>A	ENSP00000284987:p.Gly510Val						p.G510V	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			4	2258	-			510			Disintegrin.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1529G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688328	0.68271	.	.	ENSG00000154736	ENST00000284987	T	0.63580	-0.05	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	L	0.52126	1.63	0.80722	D	1	D	0.61080	0.989	P	0.48063	0.565	T	0.58476	-0.7630	10	0.16896	T	0.51	.	19.4665	0.94945	0.0:1.0:0.0:0.0	.	510	Q9UNA0	ATS5_HUMAN	V	510	ENSP00000284987:G510V	ENSP00000284987:G510V	G	-	2	0	ADAMTS5	27228816	1.000000	0.71417	0.953000	0.39169	0.927000	0.56198	5.710000	0.68392	2.624000	0.88883	0.557000	0.71058	GGC		0.612	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			8	32	1	0	0.000157383	0.00308	0.000211083	8	32				
ABCG1	9619	broad.mit.edu	37	21	43645891	43645891	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:43645891A>T	ENST00000361802.2	+	2	298	c.153A>T	c.(151-153)ggA>ggT	p.G51G	ABCG1_ENST00000347800.2_Silent_p.G48G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.G53G|ABCG1_ENST00000398449.3_Silent_p.G51G|ABCG1_ENST00000343687.3_Silent_p.G62G	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	51					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.G51G(1)|p.G53G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGCTGAATGGACATCTGAAAA	0.527																																							uc002zaq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(151-153)GGA>GGT		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						115.0	105.0	108.0					21																	43645891		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43645891A>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.153A>T	21.37:g.43645891A>T						ABCG1_uc002zan.2_Silent_p.G53G|ABCG1_uc002zam.2_Silent_p.G29G|ABCG1_uc002zao.2_Silent_p.G48G|ABCG1_uc002zap.2_Silent_p.G51G|ABCG1_uc002zar.2_Silent_p.G62G|ABCG1_uc011aev.1_Silent_p.G62G	p.G51G	NM_004915	NP_004906	P45844	ABCG1_HUMAN			2	259	+			51			Cytoplasmic (Potential).		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.153A>T	CCDS13682.1																																																																																				0.527	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		9	64	0	0	0	0.004482	0	9	64				
CCT8L2	150160	broad.mit.edu	37	22	17072912	17072913	+	Missense_Mutation	DNP	TG	TG	AT	rs370039143		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:17072912_17072913TG>AT	ENST00000359963.3	-	1	787_788	c.528_529CA>AT	c.(526-531)ccCAtg>ccATtg	p.M177L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	177					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.M177L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAGTGGTCCATGGGGGACAGGG	0.619																																							uc002zlp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(526-531)CCCATG>CCATTG		T-complex protein 1																																				SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072912_17072913TG>AT	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.528_529delinsAT	22.37:g.17072912_17072913delinsAT	ENSP00000353048:p.Met177Leu						p.M177L	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	788_789	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	177					A4QPH3|Q9UJS3	Missense_Mutation	DNP	ENST00000359963.3	37	c.528_529CA>AT	CCDS13738.1																																																																																				0.619	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			13	45	0	0	0	0.004672	0	13	45				
C22orf31	25770	broad.mit.edu	37	22	29456675	29456675	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:29456675G>T	ENST00000216071.4	-	2	211	c.160C>A	c.(160-162)Cca>Aca	p.P54T		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	54								p.P54T(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GCTGGTGCTGGGGCATTAATG	0.483																																							uc003aej.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(160-162)CCA>ACA		hypothetical protein LOC25770							119.0	112.0	114.0					22																	29456675		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29456675G>T	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.160C>A	22.37:g.29456675G>T	ENSP00000216071:p.Pro54Thr						p.P54T	NM_015370	NP_056185	O95567	CV031_HUMAN			2	287	-			54					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.160C>A	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.261637	0.01445	.	.	ENSG00000100249	ENST00000216071	T	0.36157	1.27	5.06	-2.27	0.06846	.	0.428825	0.20414	N	0.092801	T	0.17195	0.0413	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.08371	-1.0725	10	0.29301	T	0.29	0.0197	2.3478	0.04276	0.1605:0.1233:0.4529:0.2634	.	54	O95567	CV031_HUMAN	T	54	ENSP00000216071:P54T	ENSP00000216071:P54T	P	-	1	0	C22orf31	27786675	0.024000	0.19004	0.000000	0.03702	0.005000	0.04900	0.471000	0.22100	0.040000	0.15660	-1.740000	0.00687	CCA		0.483	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		9	62	1	0	1.12685e-05	0.004482	1.66247e-05	9	62				
RNF215	200312	broad.mit.edu	37	22	30782716	30782716	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:30782716T>A	ENST00000382363.3	-	2	392	c.318A>T	c.(316-318)ccA>ccT	p.P106P		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	106						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.P106P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						AGCCTTCCACTGGTGCCTCCT	0.642																																							uc003ahp.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(316-318)CCA>CCT		ring finger protein 215							48.0	47.0	47.0					22																	30782716		2203	4300	6503	SO:0001819	synonymous_variant	200312					integral to membrane	zinc ion binding	g.chr22:30782716T>A		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.318A>T	22.37:g.30782716T>A						RNF215_uc011akw.1_Silent_p.P11P	p.P106P	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN			2	318	-			106			Extracellular (Potential).		A6NEL1	Silent	SNP	ENST00000382363.3	37	c.318A>T	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	T	2.597	-0.293823	0.05568	.	.	ENSG00000099999	ENST00000215798	.	.	.	4.46	-8.93	0.00771	.	.	.	.	.	T	0.15825	0.0381	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	T	0.08027	-1.0742	4	.	.	.	-25.2429	2.5508	0.04748	0.1167:0.5002:0.0815:0.3016	.	.	.	.	C	44	.	.	S	-	1	0	RNF215	29112716	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-3.659000	0.00401	-3.474000	0.00156	-2.310000	0.00256	AGT		0.642	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		9	42	0	0	0	0.000978	0	9	42				
GAL3ST1	9514	broad.mit.edu	37	22	30951023	30951023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:30951023C>A	ENST00000402321.1	-	3	1506	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*	GAL3ST1_ENST00000406361.1_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000402369.1_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000406955.1_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000338911.5_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000443111.2_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000401975.1_Nonsense_Mutation_p.E397*			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	397					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.E397*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGGATCTCGGGCGTGAGC	0.652																																							uc003aig.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1189-1191)GAG>TAG		galactose-3-O-sulfotransferase 1							56.0	52.0	53.0					22																	30951023		2203	4300	6503	SO:0001587	stop_gained	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951023C>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1189G>T	22.37:g.30951023C>A	ENSP00000385735:p.Glu397*					GAL3ST1_uc003aih.1_Nonsense_Mutation_p.E397*|GAL3ST1_uc003aii.1_Nonsense_Mutation_p.E397*|GAL3ST1_uc010gvz.1_Nonsense_Mutation_p.E397*	p.E397*	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	1329	-			397			Lumenal (Potential).		Q96C63	Nonsense_Mutation	SNP	ENST00000402321.1	37	c.1189G>T	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	38	6.938123	0.97948	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.0314	19.4734	0.94973	0.0:1.0:0.0:0.0	.	.	.	.	X	397	.	ENSP00000343234:E397X	E	-	1	0	GAL3ST1	29281023	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.705000	0.84606	2.704000	0.92352	0.561000	0.74099	GAG		0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		9	44	1	0	0.00448238	0.004482	0.00529312	9	44				
PATZ1	23598	broad.mit.edu	37	22	31722987	31722987	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:31722987T>A	ENST00000266269.5	-	5	2583	c.1954A>T	c.(1954-1956)Aac>Tac	p.N652Y	PATZ1_ENST00000405309.3_3'UTR|RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000351933.4_Missense_Mutation_p.N606Y	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	652					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N652Y(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGAGACATGTTCTGCTGAGGA	0.567																																							uc003akq.2		NA																EWSR1/PATZ1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)	2						c.(1954-1956)AAC>TAC		POZ (BTB) and AT hook containing zinc finger 1							65.0	69.0	67.0					22																	31722987		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31722987T>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1954A>T	22.37:g.31722987T>A	ENSP00000266269:p.Asn652Tyr					PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.N606Y	p.N652Y	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			5	2615	-			652					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1954A>T	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913006	0.72983	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	T;T	0.11385	2.78;2.84	5.49	5.49	0.81192	.	0.284027	0.36740	N	0.002424	T	0.18341	0.0440	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.64321	0.899;0.924	T	0.02860	-1.1101	10	0.72032	D	0.01	-19.038	14.7546	0.69554	0.0:0.0:0.0:1.0	.	606;652	Q9HBE1-3;Q9HBE1	.;PATZ1_HUMAN	Y	652;606	ENSP00000266269:N652Y;ENSP00000337520:N606Y	ENSP00000266269:N652Y	N	-	1	0	PATZ1	30052987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.076000	0.62316	0.477000	0.44152	AAC		0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		6	53	0	0	0	0.001984	0	6	53				
IL2RB	3560	broad.mit.edu	37	22	37524495	37524495	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:37524495T>G	ENST00000216223.5	-	10	1495	c.1297A>C	c.(1297-1299)Agt>Cgt	p.S433R		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	433					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.S433R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCGAGGAGACTGGGGGAGAAG	0.657																																							uc003aqv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)AGT>CGT		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						15.0	16.0	15.0					22																	37524495		2197	4280	6477	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524495T>G	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1297A>C	22.37:g.37524495T>G	ENSP00000216223:p.Ser433Arg						p.S433R	NM_000878	NP_000869	P14784	IL2RB_HUMAN			10	1428	-			433			Cytoplasmic (Potential).		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.1297A>C	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025359	0.35701	.	.	ENSG00000100385	ENST00000216223	T	0.09911	2.93	4.92	0.902	0.19290	.	0.900858	0.09803	N	0.753841	T	0.08935	0.0221	L	0.33485	1.01	0.09310	N	1	B	0.23806	0.091	B	0.26094	0.066	T	0.39375	-0.9617	10	0.37606	T	0.19	-1.5691	7.3165	0.26503	0.0:0.3308:0.0:0.6692	.	433	P14784	IL2RB_HUMAN	R	433	ENSP00000216223:S433R	ENSP00000216223:S433R	S	-	1	0	IL2RB	35854441	0.000000	0.05858	0.009000	0.14445	0.803000	0.45373	-0.903000	0.04084	0.122000	0.18314	0.533000	0.62120	AGT		0.657	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			3	10	0	0	0	0.004672	0	3	10				
GRAP2	9402	broad.mit.edu	37	22	40367050	40367050	+	Missense_Mutation	SNP	C	C	T	rs12759		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:40367050C>T	ENST00000344138.4	+	8	1218	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	GRAP2_ENST00000540310.1_Missense_Mutation_p.L253F|GRAP2_ENST00000543252.1_Missense_Mutation_p.L267F|GRAP2_ENST00000544756.1_Missense_Mutation_p.L247F|GRAP2_ENST00000399090.2_Missense_Mutation_p.L206F|GRAP2_ENST00000407075.3_Missense_Mutation_p.L319F	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	319	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.		L -> F (in dbSNP:rs12759). {ECO:0000269|PubMed:10820259}.		cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.L319F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAAGCTGGGCCTCTTCCCTGC	0.587																																							uc003ayh.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(955-957)CTC>TTC		GRB2-related adaptor protein 2							82.0	71.0	75.0					22																	40367050		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40367050C>T	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.955C>T	22.37:g.40367050C>T	ENSP00000339186:p.Leu319Phe					GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.L293F|GRAP2_uc011aon.1_Missense_Mutation_p.L253F|GRAP2_uc010gya.1_Missense_Mutation_p.L319F|GRAP2_uc011aoo.1_Missense_Mutation_p.L247F|GRAP2_uc011aop.1_Missense_Mutation_p.L279F|GRAP2_uc011aoq.1_Missense_Mutation_p.L206F|GRAP2_uc003ayj.1_Missense_Mutation_p.L319F	p.L319F	NM_004810	NP_004801	O75791	GRAP2_HUMAN			8	1218	+			319			SH3 2.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.955C>T	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974892	0.74360	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.54479	0.57;1.47;0.57;0.57;0.57;0.57	5.45	4.44	0.53790	Src homology-3 domain (5);	0.370692	0.30752	N	0.008945	T	0.59018	0.2163	N	0.26162	0.8	0.53688	D	0.999977	D;B;D;D;B	0.89917	1.0;0.056;0.997;0.999;0.032	D;B;D;D;B	0.97110	1.0;0.067;0.983;0.985;0.067	T	0.57934	-0.7725	10	0.35671	T	0.21	-33.545	14.0574	0.64779	0.0:0.9274:0.0:0.0726	rs12759;rs12759	206;319;253;293;319	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	F	319;267;293;253;247;206;319	ENSP00000339186:L319F;ENSP00000446350:L267F;ENSP00000444734:L253F;ENSP00000442195:L247F;ENSP00000382040:L206F;ENSP00000385607:L319F	ENSP00000339186:L319F	L	+	1	0	GRAP2	38696996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.839000	0.48207	1.294000	0.44707	0.557000	0.71058	CTC		0.587	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		4	63	0	0	0	0.001168	0	4	63				
NFAM1	150372	broad.mit.edu	37	22	42783046	42783046	+	Missense_Mutation	SNP	G	G	C	rs371966616		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:42783046G>C	ENST00000329021.5	-	5	739	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	234	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.I234M(1)		large_intestine(1)|lung(3)	4						CCTCATTCTCGATGCAGGCAT	0.647																																							uc003bcn.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(700-702)ATC>ATG		NFAT activation molecule 1 precursor							112.0	100.0	104.0					22																	42783046		2203	4300	6503	SO:0001583	missense	150372				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chr22:42783046G>C	BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.702C>G	22.37:g.42783046G>C	ENSP00000333680:p.Ile234Met						p.I234M	NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN			5	740	-			234			Cytoplasmic (Potential).|ITAM.		B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Missense_Mutation	SNP	ENST00000329021.5	37	c.702C>G	CCDS14034.1	.	.	.	.	.	.	.	.	.	.	G	9.814	1.183920	0.21870	.	.	ENSG00000235568	ENST00000329021	T	0.20069	2.1	3.77	-7.02	0.01589	.	0.380247	0.17908	N	0.157952	T	0.09642	0.0237	L	0.43152	1.355	0.09310	N	1	B	0.32693	0.38	B	0.30105	0.111	T	0.23048	-1.0199	10	0.19147	T	0.46	-13.886	2.5405	0.04724	0.2857:0.4255:0.171:0.1178	.	234	Q8NET5	NFAM1_HUMAN	M	234	ENSP00000333680:I234M	ENSP00000333680:I234M	I	-	3	3	NFAM1	41112990	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	-1.081000	0.03403	-1.249000	0.02500	-1.208000	0.01637	ATC		0.647	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912		8	61	0	0	0	0.004482	0	8	61				
PHF21B	112885	broad.mit.edu	37	22	45312390	45312390	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:45312390C>A	ENST00000313237.5	-	4	484	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.A100S|PHF21B_ENST00000396103.3_Missense_Mutation_p.A112S|PHF21B_ENST00000404079.2_Missense_Mutation_p.A100S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	112							zinc ion binding (GO:0008270)	p.A112S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GTGGGGAGGGCTGGGCTGGGG	0.721																																							uc003bfn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(334-336)GCC>TCC		PHD finger protein 21B isoform 1							39.0	42.0	41.0					22																	45312390		2201	4299	6500	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312390C>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.334G>T	22.37:g.45312390C>A	ENSP00000324403:p.Ala112Ser					PHF21B_uc003bfm.2_5'UTR|PHF21B_uc011aqk.1_Missense_Mutation_p.A100S|PHF21B_uc011aql.1_Missense_Mutation_p.A112S|PHF21B_uc011aqm.1_Missense_Mutation_p.A100S	p.A112S	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	485	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	112					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.334G>T	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013200	0.75161	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.21	5.21	0.72293	.	0.150564	0.43579	D	0.000556	T	0.40222	0.1108	N	0.25647	0.755	0.40899	D	0.98413	D;D;D;P	0.89917	1.0;0.996;0.986;0.833	D;P;P;P	0.85130	0.997;0.869;0.744;0.723	T	0.25047	-1.0143	10	0.41790	T	0.15	-29.8194	18.7824	0.91939	0.0:1.0:0.0:0.0	.	100;112;100;112	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	S	112;112;100;100;100	ENSP00000324403:A112S;ENSP00000379410:A112S;ENSP00000385105:A100S;ENSP00000388619:A100S;ENSP00000401294:A100S	ENSP00000324403:A112S	A	-	1	0	PHF21B	43691054	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	3.636000	0.54317	2.434000	0.82447	0.655000	0.94253	GCC		0.721	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		8	55	1	0	1.26484e-09	0.00308	2.23115e-09	8	55				
FBLN1	2192	broad.mit.edu	37	22	45929024	45929024	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:45929024C>G	ENST00000327858.6	+	6	721	c.626C>G	c.(625-627)tCt>tGt	p.S209C	FBLN1_ENST00000348697.2_Missense_Mutation_p.S209C|FBLN1_ENST00000262722.7_Missense_Mutation_p.S209C|FBLN1_ENST00000340923.5_Missense_Mutation_p.S209C|FBLN1_ENST00000442170.2_Missense_Mutation_p.S209C|FBLN1_ENST00000402984.3_Missense_Mutation_p.S247C	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	209	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.S209C(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGCTGCTGTCTGATGGTGTC	0.627																																							uc003bgj.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(625-627)TCT>TGT		fibulin 1 isoform D							185.0	119.0	141.0					22																	45929024		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45929024C>G		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.626C>G	22.37:g.45929024C>G	ENSP00000331544:p.Ser209Cys					FBLN1_uc003bgg.1_Missense_Mutation_p.S209C|FBLN1_uc003bgh.2_Missense_Mutation_p.S209C|FBLN1_uc010gzz.2_Missense_Mutation_p.S247C|FBLN1_uc003bgi.1_Missense_Mutation_p.S209C	p.S209C	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	6	773	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	209			EGF-like 1.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.626C>G	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177783	0.57692	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000451475	T;T;T;T;T;T;T	0.72942	-0.7;1.49;1.49;1.49;1.49;1.49;-0.7	5.44	5.44	0.79542	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.339881	0.34802	N	0.003676	T	0.82066	0.4956	M	0.77313	2.365	0.09310	N	1	D;P;D;D	0.62365	0.991;0.896;0.969;0.99	P;B;P;P	0.55999	0.706;0.321;0.619;0.789	T	0.76610	-0.2896	10	0.62326	D	0.03	.	19.2453	0.93899	0.0:1.0:0.0:0.0	.	247;209;209;209	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	C	209;247;209;209;209;209;129	ENSP00000262723:S209C;ENSP00000385521:S247C;ENSP00000262722:S209C;ENSP00000331544:S209C;ENSP00000393812:S209C;ENSP00000342212:S209C;ENSP00000415160:S129C	ENSP00000262722:S209C	S	+	2	0	FBLN1	44307688	0.160000	0.22878	0.012000	0.15200	0.630000	0.37929	4.265000	0.58865	2.543000	0.85770	0.484000	0.47621	TCT		0.627	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		3	46	0	0	0	0.004672	0	3	46				
TUBGCP6	85378	broad.mit.edu	37	22	50659383	50659383	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:50659383C>A	ENST00000248846.5	-	16	3509	c.3405G>T	c.(3403-3405)ggG>ggT	p.G1135G	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.G1135G			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1135	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.G1135G(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGACACGTGCCCGTGGGTAT	0.627																																							uc003bkb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(3403-3405)GGG>GGT		tubulin, gamma complex associated protein 6							145.0	140.0	142.0					22																	50659383		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659383C>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3405G>T	22.37:g.50659383C>A						TUBGCP6_uc003bka.1_Silent_p.G222G|TUBGCP6_uc010har.1_Silent_p.G1127G|TUBGCP6_uc010has.1_RNA	p.G1135G	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	3917	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1135			9 X 27 AA tandem repeats.|5.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3405G>T	CCDS14087.1																																																																																				0.627	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		23	121	1	0	2.89027e-11	0.002299	5.32147e-11	23	121				
CHL1	10752	broad.mit.edu	37	3	424236	424236	+	Silent	SNP	C	C	T	rs374749356		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:424236C>T	ENST00000256509.2	+	18	2700	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Silent_p.T670T	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.T686T(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)		GAAAGAAAACCACAGTTATCT	0.458																																							uc003bou.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(2008-2010)ACC>ACT		cell adhesion molecule with homology to L1CAM		C		1,4405	2.1+/-5.4	0,1,2202	97.0	109.0	105.0		2058	-9.7	0.0	3		105	0,8600		0,0,4300	no	coding-synonymous	CHL1	NM_006614.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		686/1225	424236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:424236C>T	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.2058C>T	3.37:g.424236C>T						CHL1_uc003bot.2_Silent_p.T686T|CHL1_uc003bow.1_Silent_p.T670T|CHL1_uc011asi.1_Silent_p.T686T|uc003box.1_Intron	p.T670T	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)	17	2281	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	670			Fibronectin type-III 1.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.2010C>T	CCDS2556.1																																																																																				0.458	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		6	58	0	0	0	0.001168	0	6	58				
METTL6	131965	broad.mit.edu	37	3	15457374	15457374	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:15457374C>A	ENST00000443029.1	-	4	676	c.436G>T	c.(436-438)Gta>Tta	p.V146L	METTL6_ENST00000383790.3_Missense_Mutation_p.V146L|METTL6_ENST00000450816.2_Missense_Mutation_p.V101L|METTL6_ENST00000383789.5_Missense_Mutation_p.V146L			Q8TCB7	METL6_HUMAN	methyltransferase like 6	146							methyltransferase activity (GO:0008168)	p.V146L(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TCTGGCGGTACATGATCCAGA	0.383																																							uc003bzs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GTA>TTA		methyltransferase like 6							134.0	130.0	131.0					3																	15457374		2004	4199	6203	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15457374C>A	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.436G>T	3.37:g.15457374C>A	ENSP00000407613:p.Val146Leu					METTL6_uc011avp.1_Missense_Mutation_p.V101L|METTL6_uc003bzt.1_Missense_Mutation_p.V146L|METTL6_uc010hen.1_5'Flank	p.V146L	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN			4	694	-			146					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.436G>T	CCDS43056.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.278|6.278	0.419352|0.419352	0.11928|0.11928	.|.	.|.	ENSG00000206562|ENSG00000206562	ENST00000458728|ENST00000383790;ENST00000450816;ENST00000453819;ENST00000383789	.|T;T;T;T	.|0.02709	.|4.19;4.19;4.19;4.19	6.16|6.16	1.26|1.26	0.21427|0.21427	.|Methyltransferase type 12 (1);	.|0.317779	.|0.35970	.|N	.|0.002868	T|T	0.01730|0.01730	0.0055|0.0055	N|N	0.11870|0.11870	0.19|0.19	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.19935	.|0.006;0.04;0.006	.|B;B;B	.|0.27887	.|0.084;0.053;0.034	T|T	0.47935|0.47935	-0.9078|-0.9078	5|10	.|0.25751	.|T	.|0.34	-2.68|-2.68	5.5019|5.5019	0.16833|0.16833	0.1256:0.4896:0.0:0.3848|0.1256:0.4896:0.0:0.3848	.|.	.|101;146;146	.|B4DDX3;Q8TCB7-2;Q8TCB7	.|.;.;METL6_HUMAN	F|L	14|146;101;53;146	.|ENSP00000373300:V146L;ENSP00000410726:V101L;ENSP00000412006:V53L;ENSP00000373299:V146L	.|ENSP00000373299:V146L	C|V	-|-	2|1	0|0	METTL6|METTL6	15432378|15432378	0.602000|0.602000	0.26916|0.26916	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.199000|1.199000	0.32235|0.32235	0.149000|0.149000	0.19098|0.19098	-0.157000|-0.157000	0.13467|0.13467	TGT|GTA		0.383	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		4	61	1	0	0.00024832	0.000248	0.000325365	4	61				
DLEC1	9940	broad.mit.edu	37	3	38126765	38126766	+	Splice_Site	DNP	GG	GG	TT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:38126765_38126766GG>TT	ENST00000308059.6	+	8	1283_1284	c.1262_1263GG>TT	c.(1261-1263)gGG>gTT	p.G421V	DLEC1_ENST00000346219.3_Splice_Site_p.G421V|DLEC1_ENST00000452631.2_Splice_Site_p.G421V|DLEC1_ENST00000469151.1_Intron					deleted in lung and esophageal cancer 1									p.G421V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCATGCACAGGGATGTTCCCAG	0.535																																							uc003cho.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1261-1263)GGG>GTT		deleted in lung and esophageal cancer 1 isoform																																				SO:0001630	splice_region_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38126765_38126766GG>TT	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	Exception_encountered	3.37:g.38126765_38126766delinsTT						DLEC1_uc003chp.1_Missense_Mutation_p.G421V|DLEC1_uc010hgv.1_Missense_Mutation_p.G421V|DLEC1_uc010hgw.1_Intron|DLEC1_uc003chq.1_Intron	p.G421V	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	8	1283_1284	+			421						Missense_Mutation	DNP	ENST00000308059.6	37	c.1262_1263GG>TT	CCDS2672.2																																																																																				0.535	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	Missense_Mutation	4	70	0	0	0	0.004672	0	4	70				
ABHD5	51099	broad.mit.edu	37	3	43744035	43744035	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:43744035A>G	ENST00000458276.2	+	3	585	c.462A>G	c.(460-462)ctA>ctG	p.L154L		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	154					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)	p.L154L(1)		kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GGCACAACCTAGGTGGATTCT	0.468																																							uc003cmx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(460-462)CTA>CTG		abhydrolase domain containing 5							225.0	212.0	217.0					3																	43744035		2203	4300	6503	SO:0001819	synonymous_variant	51099				cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	g.chr3:43744035A>G	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.462A>G	3.37:g.43744035A>G							p.L154L	NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	3	572	+		Renal(3;0.0134)	154					B2R9K0|Q9Y369	Silent	SNP	ENST00000458276.2	37	c.462A>G	CCDS2711.1																																																																																				0.468	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		4	84	0	0	0	0.000248	0	4	84				
CDCP1	64866	broad.mit.edu	37	3	45153697	45153697	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:45153697C>A	ENST00000296129.1	-	3	667	c.533G>T	c.(532-534)tGc>tTc	p.C178F	CDCP1_ENST00000425231.2_Missense_Mutation_p.C178F|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	178						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C178F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCATTGCTGCAGAAGGTTCC	0.577																																							uc003com.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(532-534)TGC>TTC		CUB domain-containing protein 1 isoform 1							161.0	148.0	153.0					3																	45153697		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153697C>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.533G>T	3.37:g.45153697C>A	ENSP00000296129:p.Cys178Phe					CDCP1_uc003con.2_Missense_Mutation_p.C178F	p.C178F	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	3	668	-			178			Extracellular (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.533G>T	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763427	0.69763	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;D	0.90004	-0.28;-2.6	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.94268	0.8159	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94599	0.7794	10	0.87932	D	0	.	19.2129	0.93765	0.0:1.0:0.0:0.0	.	178;178	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	F	178	ENSP00000296129:C178F;ENSP00000399342:C178F	ENSP00000296129:C178F	C	-	2	0	CDCP1	45128701	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	6.013000	0.70776	2.537000	0.85549	0.563000	0.77884	TGC		0.577	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		4	83	1	0	0.00024832	0.000248	0.000325365	4	83				
PLXNB1	5364	broad.mit.edu	37	3	48465380	48465380	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:48465380T>A	ENST00000358536.4	-	3	910	c.641A>T	c.(640-642)tAc>tTc	p.Y214F	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.Y214F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.Y214F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.Y214F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	214	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.Y214F(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGTGGCTGTACTCGGAGAG	0.632																																							uc003csw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(640-642)TAC>TTC		plexin B1 precursor							29.0	28.0	28.0					3																	48465380		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48465380T>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.641A>T	3.37:g.48465380T>A	ENSP00000351338:p.Tyr214Phe					PLXNB1_uc003csu.2_Missense_Mutation_p.Y214F|PLXNB1_uc003csx.2_Missense_Mutation_p.Y214F|PLXNB1_uc010hjx.1_RNA	p.Y214F	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	911	-			214			Extracellular (Potential).|Sema.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.641A>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250886	0.59212	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	4.41	4.41	0.53225	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000004	T	0.14787	0.0357	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.07966	-1.0745	10	0.05436	T	0.98	.	12.8338	0.57761	0.0:0.0:0.0:1.0	.	214;214	O43157;O43157-2	PLXB1_HUMAN;.	F	214	ENSP00000296440:Y214F;ENSP00000351242:Y214F;ENSP00000351338:Y214F;ENSP00000414199:Y214F	ENSP00000296440:Y214F	Y	-	2	0	PLXNB1	48440384	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	7.935000	0.87658	1.627000	0.50400	0.482000	0.46254	TAC		0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		4	18	0	0	0	0.000248	0	4	18				
COL7A1	1294	broad.mit.edu	37	3	48619147	48619147	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:48619147C>A	ENST00000328333.8	-	48	4821	c.4714G>T	c.(4714-4716)Ggg>Tgg	p.G1572W	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1572W|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1572	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1572W(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCCGTTCCCCTTGGACTCCG	0.587																																							uc003ctz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(4714-4716)GGG>TGG		alpha 1 type VII collagen precursor							154.0	157.0	156.0					3																	48619147		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48619147C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4714G>T	3.37:g.48619147C>A	ENSP00000332371:p.Gly1572Trp					MIR711_hsa-mir-711|MI0012488_5'Flank	p.G1572W	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	48	4715	-			1572			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4714G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186560	0.21870	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93604	-3.25;-3.25	5.11	4.23	0.50019	.	0.000000	0.47852	D	0.000220	D	0.97561	0.9201	H	0.97023	3.925	0.43499	D	0.995744	D	0.89917	1.0	D	0.97110	1.0	D	0.97554	1.0094	10	0.87932	D	0	.	10.6059	0.45394	0.0:0.9092:0.0:0.0908	.	1572	Q02388	CO7A1_HUMAN	W	1572	ENSP00000332371:G1572W;ENSP00000412569:G1572W	ENSP00000332371:G1572W	G	-	1	0	COL7A1	48594151	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	5.072000	0.64389	1.151000	0.42436	-0.136000	0.14681	GGG		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		7	90	1	0	0.00198382	0.001984	0.00238984	7	90				
UQCRC1	7384	broad.mit.edu	37	3	48637934	48637934	+	Silent	SNP	G	G	A	rs375476376		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:48637934G>A	ENST00000203407.5	-	10	1610	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	398					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.A398A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAGATACCAGGGCATTTCTGA	0.562																																					NSCLC(81;1112 1427 27031 32409 45529)	NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1192-1194)GCC>GCT		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)	G		1,4405	2.1+/-5.4	0,1,2202	95.0	84.0	88.0		1194	0.0	0.9	3		88	0,8600		0,0,4300	no	coding-synonymous	UQCRC1	NM_003365.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		398/481	48637934	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48637934G>A	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1194C>T	3.37:g.48637934G>A						UQCRC1_uc003cua.1_Silent_p.A283A|UQCRC1_uc003cuc.1_Silent_p.A399A|UQCRC1_uc003cud.1_Silent_p.A397A	p.A398A	NM_003365	NP_003356	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	10	1239	-			398					B2R7R8|Q96DD2	Silent	SNP	ENST00000203407.5	37	c.1194C>T	CCDS2774.1																																																																																				0.562	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		3	37	0	0	0	0.000248	0	3	37				
RBM6	10180	broad.mit.edu	37	3	50103766	50103767	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:50103766_50103767CC>TT	ENST00000266022.4	+	17	3033_3034	c.2774_2775CC>TT	c.(2773-2775)cCC>cTT	p.P925L	RBM6_ENST00000443081.1_Missense_Mutation_p.P793L|RBM6_ENST00000422955.1_Missense_Mutation_p.P403L|RBM6_ENST00000539992.1_Missense_Mutation_p.P267L|RBM6_ENST00000421682.1_5'Flank|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_Missense_Mutation_p.P403L	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	925					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P925L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGACCCCTCCCCCACAGCCCC	0.53																																							uc003cyc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2773-2775)CCC>CTT		RNA binding motif protein 6																																				SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50103766_50103767CC>TT	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	Exception_encountered	3.37:g.50103766_50103767delinsTT	ENSP00000266022:p.Pro925Leu					RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.P403L|RBM6_uc003cye.2_Missense_Mutation_p.P403L|RBM6_uc011bdi.1_Missense_Mutation_p.P267L|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	p.P925L	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	17	2907_2908	+			925					O60549|O75524|Q86SS3	Missense_Mutation	DNP	ENST00000266022.4	37	c.2774_2775CC>TT	CCDS2809.1																																																																																				0.530	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		4	27	0	0	0	0.004672	0	4	27				
HYAL3	8372	broad.mit.edu	37	3	50332756	50332756	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:50332756C>A	ENST00000336307.1	-	2	550	c.278G>T	c.(277-279)gGg>gTg	p.G93V	IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Missense_Mutation_p.G93V|IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000450982.1_Missense_Mutation_p.G93V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	93					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.G93V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGGATGCCCCCATTGTGAGC	0.587																																							uc003czd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(277-279)GGG>GTG		hyaluronoglucosaminidase 3 precursor							123.0	120.0	121.0					3																	50332756		2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50332756C>A	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.278G>T	3.37:g.50332756C>A	ENSP00000337425:p.Gly93Val					HYAL3_uc003czc.1_Missense_Mutation_p.G93V|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Missense_Mutation_p.G93V	p.G93V	NM_003549	NP_003540	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	551	-			93					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.278G>T	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876410	0.72180	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000450982;ENST00000435141	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.7	4.7	0.59300	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	U	0.000000	T	0.80319	0.4601	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86358	0.1715	10	0.87932	D	0	-14.998	15.2403	0.73465	0.0:1.0:0.0:0.0	.	93;93	O43820;O43820-2	HYAL3_HUMAN;.	V	93	ENSP00000351946:G93V;ENSP00000337425:G93V;ENSP00000391922:G93V;ENSP00000391663:G93V	ENSP00000337425:G93V	G	-	2	0	HYAL3	50307760	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.913000	0.69957	2.456000	0.83038	0.558000	0.71614	GGG		0.587	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		17	82	1	0	1.67942e-08	0.006122	2.87322e-08	17	82				
CNTN3	5067	broad.mit.edu	37	3	74411047	74411047	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:74411047T>A	ENST00000263665.6	-	10	1385	c.1358A>T	c.(1357-1359)cAt>cTt	p.H453L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	453	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.H453L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATACCTTTCATGCTCCTGCAC	0.458																																							uc003dpm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1357-1359)CAT>CTT		contactin 3 precursor							72.0	69.0	70.0					3																	74411047		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411047T>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1358A>T	3.37:g.74411047T>A	ENSP00000263665:p.His453Leu						p.H453L	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1438	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	453			Ig-like C2-type 5.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1358A>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	T	8.406	0.843151	0.16963	.	.	ENSG00000113805	ENST00000263665	T	0.27104	1.69	5.41	-1.24	0.09435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.514054	0.21983	N	0.066274	T	0.11024	0.0269	N	0.11341	0.13	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17198	-1.0377	10	0.72032	D	0.01	.	6.167	0.20396	0.0:0.2846:0.1244:0.591	.	453	Q9P232	CNTN3_HUMAN	L	453	ENSP00000263665:H453L	ENSP00000263665:H453L	H	-	2	0	CNTN3	74493737	0.014000	0.17966	0.027000	0.17364	0.096000	0.18686	-0.177000	0.09796	-0.112000	0.11979	0.482000	0.46254	CAT		0.458	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		3	42	0	0	0	0.004672	0	3	42				
PROS1	5627	broad.mit.edu	37	3	93611874	93611874	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:93611874G>T	ENST00000394236.3	-	10	1374	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	PROS1_ENST00000407433.1_Missense_Mutation_p.A222E	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	353	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.A353E(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)	ACCACGAAGTGCAATCAGGAG	0.388																																							uc003drb.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1057-1059)GCA>GAA		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						111.0	101.0	104.0					3																	93611874		2203	4300	6503	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.chr3:93611874G>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.1058C>A	3.37:g.93611874G>T	ENSP00000377783:p.Ala353Glu					PROS1_uc010hoo.2_Missense_Mutation_p.A222E|PROS1_uc003dqz.3_Missense_Mutation_p.A222E	p.A353E	NM_000313	NP_000304	P07225	PROS_HUMAN			10	1399	-			353			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1058C>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116085	0.56505	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.74315	-0.83;-0.83	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.056774	0.64402	D	0.000001	D	0.87224	0.6124	M	0.85197	2.74	0.53005	D	0.999964	D	0.89917	1.0	D	0.75484	0.986	D	0.88579	0.3135	10	0.49607	T	0.09	.	17.3231	0.87241	0.0:0.0:1.0:0.0	.	353	P07225	PROS_HUMAN	E	353;222	ENSP00000377783:A353E;ENSP00000385794:A222E	ENSP00000377783:A353E	A	-	2	0	PROS1	95094564	1.000000	0.71417	0.994000	0.49952	0.167000	0.22549	5.455000	0.66658	2.327000	0.79052	0.585000	0.79938	GCA		0.388	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		8	51	1	0	3.09899e-07	0.004482	4.96537e-07	8	51				
PROS1	5627	broad.mit.edu	37	3	93624698	93624698	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:93624698A>G	ENST00000394236.3	-	6	847	c.531T>C	c.(529-531)aaT>aaC	p.N177N	PROS1_ENST00000407433.1_Silent_p.N46N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	177	EGF-like 2; 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.N177N(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)	TTCCAGGTGTATTATCACAAA	0.289																																							uc003drb.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(529-531)AAT>AAC		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						71.0	74.0	73.0					3																	93624698		2202	4297	6499	SO:0001819	synonymous_variant	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.chr3:93624698A>G		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.531T>C	3.37:g.93624698A>G						PROS1_uc010hoo.2_Silent_p.N46N|PROS1_uc003dqz.3_Silent_p.N46N	p.N177N	NM_000313	NP_000304	P07225	PROS_HUMAN			6	872	-			177			EGF-like 2; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.531T>C	CCDS2923.1																																																																																				0.289	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		7	69	0	0	0	0.00308	0	7	69				
GPR15	2838	broad.mit.edu	37	3	98251619	98251619	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:98251619G>A	ENST00000284311.3	+	1	877	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	248					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A248T(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TATTGTCGTGGCAGCCTTTCT	0.443																																							uc011bgy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(742-744)GCA>ACA		G protein-coupled receptor 15							69.0	70.0	70.0					3																	98251619		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251619G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.742G>A	3.37:g.98251619G>A	ENSP00000284311:p.Ala248Thr						p.A248T	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	742	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	248			Helical; Name=6; (Potential).		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.742G>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875192	0.51695	.	.	ENSG00000154165	ENST00000284311	T	0.37915	1.17	4.92	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.123818	0.35585	N	0.003120	T	0.32346	0.0826	L	0.39397	1.21	0.27237	N	0.959233	P	0.49862	0.929	P	0.48571	0.582	T	0.11372	-1.0590	10	0.36615	T	0.2	-10.1069	6.2466	0.20820	0.0932:0.0:0.7233:0.1835	.	248	P49685	GPR15_HUMAN	T	248	ENSP00000284311:A248T	ENSP00000284311:A248T	A	+	1	0	GPR15	99734309	0.616000	0.27035	0.999000	0.59377	0.895000	0.52256	0.974000	0.29436	1.445000	0.47624	0.655000	0.94253	GCA		0.443	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			12	45	0	0	0	0.001855	0	12	45				
GPR128	84873	broad.mit.edu	37	3	100362478	100362478	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:100362478G>T	ENST00000273352.3	+	8	1214		c.e8+1		GPR128_ENST00000475887.1_Intron|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGACGAAAAGTAAGTCTCAA	0.333																																					Pancreas(87;185 1975 7223 18722)	Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|skin(1)	4						c.e8+1		G protein-coupled receptor 128 precursor							67.0	65.0	66.0					3																	100362478		2203	4300	6503	SO:0001630	splice_region_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362478G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.946+1G>T	3.37:g.100362478G>T						GPR128_uc011bhc.1_Intron	p.N316_splice	NM_032787	NP_116176	Q96K78	GP128_HUMAN			8	1214	+								Q14D94|Q86SQ2	Splice_Site	SNP	ENST00000273352.3	37	c.946_splice	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194856	0.38806	.	.	ENSG00000144820	ENST00000273352	.	.	.	5.79	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9855	0.58590	0.0:0.1618:0.8382:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR128	101845168	0.996000	0.38824	0.390000	0.26220	0.050000	0.14768	4.303000	0.59098	1.447000	0.47661	0.650000	0.86243	.		0.333	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		Intron	6	23	1	0	0.00116845	0.001168	0.00142726	6	23				
CCDC54	84692	broad.mit.edu	37	3	107096575	107096575	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:107096575T>A	ENST00000261058.1	+	1	388	c.141T>A	c.(139-141)acT>acA	p.T47T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	47								p.T47T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATATCCCACTGTGACATCTG	0.383																																							uc003dwi.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)ACT>ACA		coiled-coil domain containing 54							144.0	143.0	143.0					3																	107096575		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107096575T>A	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.141T>A	3.37:g.107096575T>A							p.T47T	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			1	388	+			47					Q96A43	Silent	SNP	ENST00000261058.1	37	c.141T>A	CCDS2949.1																																																																																				0.383	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		12	72	0	0	0	0.001855	0	12	72				
KIAA2018	205717	broad.mit.edu	37	3	113376009	113376009	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:113376009T>C	ENST00000478658.1	-	5	4537	c.4520A>G	c.(4519-4521)cAt>cGt	p.H1507R	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.H1507R			Q68DE3	K2018_HUMAN	KIAA2018	1507	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.H1507R(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTGGACATTATGGGGCTGAGA	0.478																																							uc003eam.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(4519-4521)CAT>CGT		hypothetical protein LOC205717							138.0	143.0	141.0					3																	113376009		2107	4248	6355	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113376009T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4520A>G	3.37:g.113376009T>C	ENSP00000420721:p.His1507Arg					KIAA2018_uc003eal.2_Missense_Mutation_p.H1451R	p.H1507R	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	4931	-			1507			Gln-rich.		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.4520A>G	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401384	0.25291	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15487	2.42;2.42	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	N	0.19112	0.55	0.49299	D	0.999778	P	0.36599	0.56	B	0.31547	0.132	T	0.19516	-1.0303	10	0.07990	T	0.79	-13.6773	10.6198	0.45474	0.0:0.0712:0.0:0.9288	.	1507	Q68DE3	K2018_HUMAN	R	1507	ENSP00000320794:H1507R;ENSP00000420721:H1507R	ENSP00000320794:H1507R	H	-	2	0	KIAA2018	114858699	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	4.744000	0.62118	2.254000	0.74563	0.459000	0.35465	CAT		0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		6	49	0	0	0	0.001984	0	6	49				
ATP6V1A	523	broad.mit.edu	37	3	113513802	113513802	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:113513802C>A	ENST00000273398.3	+	9	1180	c.1072C>A	c.(1072-1074)Ctt>Att	p.L358I	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L325I	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	358					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.L358I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GGCTGAGGCCCTTAGAGAAAT	0.453																																							uc003eao.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1072-1074)CTT>ATT		ATPase, H+ transporting, lysosomal V1 subunit A							116.0	119.0	118.0					3																	113513802		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113513802C>A	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1072C>A	3.37:g.113513802C>A	ENSP00000273398:p.Leu358Ile					ATP6V1A_uc011bik.1_Missense_Mutation_p.L325I	p.L358I	NM_001690	NP_001681	P38606	VATA_HUMAN			9	1138	+			358					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.1072C>A	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281840	0.80692	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	D;D	0.82344	-1.6;-1.6	5.43	4.56	0.56223	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.90198	3.095	0.80722	D	1	D	0.60575	0.988	D	0.87578	0.998	D	0.93645	0.6968	10	0.87932	D	0	-5.5917	14.2668	0.66123	0.0:0.9282:0.0:0.0718	.	358	P38606	VATA_HUMAN	I	75;358;325	ENSP00000273398:L358I;ENSP00000439874:L325I	ENSP00000273398:L358I	L	+	1	0	ATP6V1A	114996492	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.743000	0.68655	1.308000	0.44962	0.563000	0.77884	CTT		0.453	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		13	86	1	0	1.36491e-13	0.001855	2.60595e-13	13	86				
GAP43	2596	broad.mit.edu	37	3	115395290	115395290	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:115395290C>T	ENST00000305124.6	+	2	827	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GAP43_ENST00000393780.3_Missense_Mutation_p.S190F	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	154					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S190F(1)|p.S154F(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		TCGCCGTCCTCCAAGGCTGAA	0.612																																							uc003ebq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(460-462)TCC>TTC		growth associated protein 43 isoform 2							35.0	38.0	37.0					3																	115395290		2203	4298	6501	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395290C>T		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.461C>T	3.37:g.115395290C>T	ENSP00000305010:p.Ser154Phe					GAP43_uc003ebr.2_Missense_Mutation_p.S190F	p.S154F	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	847	+			154					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.461C>T	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284888	0.59867	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.48201	0.82;0.82	5.97	5.97	0.96955	Neuromodulin (GAP-43), C-terminal (1);	0.270917	0.33144	N	0.005240	T	0.54464	0.1860	L	0.51422	1.61	0.37220	D	0.905201	D;P	0.56521	0.976;0.934	P;P	0.56960	0.81;0.454	T	0.60742	-0.7203	10	0.54805	T	0.06	-10.9129	9.2961	0.37815	0.0:0.8811:0.0:0.1189	.	190;154	A8K0Y4;P17677	.;NEUM_HUMAN	F	154;190	ENSP00000305010:S154F;ENSP00000377372:S190F	ENSP00000305010:S154F	S	+	2	0	GAP43	116877980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.950000	0.49081	2.836000	0.97738	0.655000	0.94253	TCC		0.612	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		5	33	0	0	0	0.000602	0	5	33				
ARHGAP31	57514	broad.mit.edu	37	3	119134119	119134119	+	Missense_Mutation	SNP	A	A	T	rs12107254	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:119134119A>T	ENST00000264245.4	+	12	3875	c.3343A>T	c.(3343-3345)Att>Ttt	p.I1115F		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1115			I -> L (in dbSNP:rs12107254).		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.I1115F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGCCATTCCCATTGCTGACCT	0.522																																					Pancreas(7;176 297 5394 51128 51241)	Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3343-3345)ATT>TTT		Cdc42 GTPase-activating protein							129.0	127.0	128.0					3																	119134119		1976	4168	6144	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134119A>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3343A>T	3.37:g.119134119A>T	ENSP00000264245:p.Ile1115Phe						p.I1115F	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3875	+			1115					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3343A>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780858	0.31502	.	.	ENSG00000031081	ENST00000264245	T	0.07021	3.23	5.53	1.63	0.23807	.	0.229234	0.30771	N	0.008904	T	0.07773	0.0195	L	0.57536	1.79	0.36914	D	0.891035	B	0.13145	0.007	B	0.08055	0.003	T	0.16217	-1.0410	10	0.72032	D	0.01	.	2.5086	0.04651	0.4797:0.0:0.2953:0.225	.	1115	Q2M1Z3	RHG31_HUMAN	F	1115	ENSP00000264245:I1115F	ENSP00000264245:I1115F	I	+	1	0	ARHGAP31	120616809	0.002000	0.14202	0.841000	0.33234	0.977000	0.68977	0.516000	0.22817	0.458000	0.26988	0.533000	0.62120	ATT		0.522	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			4	56	0	0	0	0.000248	0	4	56				
FBXO40	51725	broad.mit.edu	37	3	121341476	121341476	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:121341476C>A	ENST00000338040.4	+	3	1614	c.1200C>A	c.(1198-1200)ctC>ctA	p.L400L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	400					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L400L(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGACCACCCTCCAGTGTGCTT	0.458																																							uc003eeg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1198-1200)CTC>CTA		F-box protein 40							118.0	112.0	114.0					3																	121341476		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341476C>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1200C>A	3.37:g.121341476C>A							p.L400L	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1410	+			400					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.1200C>A	CCDS33835.1																																																																																				0.458	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		7	58	1	0	8.12818e-05	0.001984	0.000110582	7	58				
DTX3L	151636	broad.mit.edu	37	3	122287986	122287986	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:122287986T>A	ENST00000296161.4	+	3	1239	c.1050T>A	c.(1048-1050)atT>atA	p.I350I	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	350					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I350I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AAGATGACATTTCAGCTGCCA	0.383																																							uc003efk.2		NA																	1	Substitution - coding silent(1)	p.I350N(1)	lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1048-1050)ATT>ATA		deltex 3-like							84.0	95.0	91.0					3																	122287986		2200	4300	6500	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287986T>A		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1050T>A	3.37:g.122287986T>A						DTX3L_uc010hrj.2_Intron	p.I350I	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1139	+			350					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.1050T>A	CCDS3015.1																																																																																				0.383	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		17	81	0	0	0	0.00499	0	17	81				
HSPBAP1	79663	broad.mit.edu	37	3	122459941	122459941	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:122459941C>A	ENST00000306103.2	-	7	988	c.845G>T	c.(844-846)cGg>cTg	p.R282L	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	282	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)		p.R282L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CTCTTCTACCCGGGCTAGGTG	0.428																																							uc003efu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(844-846)CGG>CTG		Hspb associated protein 1							104.0	105.0	104.0					3																	122459941		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122459941C>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.845G>T	3.37:g.122459941C>A	ENSP00000302562:p.Arg282Leu					HSPBAP1_uc003eft.1_5'UTR	p.R282L	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	7	968	-			282			JmjC.		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.845G>T	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080638	0.76528	.	.	ENSG00000169087	ENST00000306103	T	0.08282	3.11	5.35	4.48	0.54585	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	1.580070	0.02920	N	0.137847	T	0.27900	0.0687	L	0.50847	1.595	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00013	-1.2420	10	0.49607	T	0.09	.	11.6393	0.51222	0.0:0.9187:0.0:0.0813	.	282	Q96EW2	HBAP1_HUMAN	L	282	ENSP00000302562:R282L	ENSP00000302562:R282L	R	-	2	0	HSPBAP1	123942631	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	4.599000	0.61076	1.496000	0.48567	0.655000	0.94253	CGG		0.428	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		13	47	1	0	1.52009e-12	0.003163	2.85898e-12	13	47				
MYLK	4638	broad.mit.edu	37	3	123419658	123419658	+	Missense_Mutation	SNP	G	G	C	rs140989388		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:123419658G>C	ENST00000475616.1	-	15	2656	c.2657C>G	c.(2656-2658)gCg>gGg	p.A886G	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000346322.5_Missense_Mutation_p.A817G|MYLK_ENST00000360772.3_Missense_Mutation_p.A886G|MYLK_ENST00000359169.1_Missense_Mutation_p.A886G|MYLK_ENST00000360304.3_Missense_Mutation_p.A886G			Q15746	MYLK_HUMAN	myosin light chain kinase	886	5 X 28 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.A886G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGCGGATCGCCTCCTCAGT	0.622																																							uc003ego.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(2656-2658)GCG>GGG		myosin light chain kinase isoform 1							76.0	72.0	73.0					3																	123419658		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419658G>C	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2657C>G	3.37:g.123419658G>C	ENSP00000418335:p.Ala886Gly					MYLK_uc011bjw.1_Missense_Mutation_p.A886G|MYLK_uc003egp.2_Missense_Mutation_p.A817G|MYLK_uc003egq.2_Missense_Mutation_p.A886G|MYLK_uc003egr.2_Missense_Mutation_p.A817G|MYLK_uc003egs.2_Missense_Mutation_p.A710G|MYLK_uc003egt.2_Missense_Mutation_p.A77G	p.A886G	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	18	2939	-		Lung NSC(201;0.0496)	886			5 X 28 AA approximate tandem repeats.|1-1.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.2657C>G	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493627	0.26774	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67171	-0.25;-0.22;-0.25;-0.2;-0.22	4.99	4.09	0.47781	.	.	.	.	.	T	0.57051	0.2027	L	0.50333	1.59	0.09310	N	0.999997	P;P;P;P;P	0.43431	0.807;0.657;0.657;0.807;0.548	B;B;B;B;B	0.41374	0.355;0.268;0.28;0.267;0.194	T	0.46992	-0.9151	9	0.23302	T	0.38	.	6.585	0.22616	0.0:0.2749:0.4664:0.2587	.	886;817;886;817;886	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	G	886;886;886;817;886	ENSP00000354004:A886G;ENSP00000353452:A886G;ENSP00000352088:A886G;ENSP00000320622:A817G;ENSP00000418335:A886G	ENSP00000320622:A817G	A	-	2	0	MYLK	124902348	0.742000	0.28228	0.999000	0.59377	0.978000	0.69477	1.755000	0.38379	2.318000	0.78349	0.561000	0.74099	GCG		0.622	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		5	47	0	0	0	0.001984	0	5	47				
KALRN	8997	broad.mit.edu	37	3	124281868	124281868	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:124281868G>A	ENST00000393496.1	+	2	391	c.227G>A	c.(226-228)aGc>aAc	p.S76N	KALRN_ENST00000360013.3_Missense_Mutation_p.S1703N			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1703	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1703N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGGTCCCCAGCAGCGCCCTG	0.652																																							uc003ehg.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(5107-5109)AGC>AAC		kalirin, RhoGEF kinase isoform 1							52.0	57.0	55.0					3																	124281868		2072	4215	6287	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124281868G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.227G>A	3.37:g.124281868G>A	ENSP00000377134:p.Ser76Asn					KALRN_uc003ehi.2_Missense_Mutation_p.S76N	p.S1703N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			34	5235	+			1703			SH3 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000393496.1	37	c.5108G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.78|17.78	3.473233|3.473233	0.63737|0.63737	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496	.|T;T	.|0.60299	.|0.2;0.42	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Src homology-3 domain (3);	.|0.105878	.|0.64402	.|D	.|0.000007	T|T	0.45438|0.45438	0.1342|0.1342	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;P	.|0.49783	.|0.328;0.928	.|B;B	.|0.39531	.|0.124;0.302	T|T	0.45293|0.45293	-0.9271|-0.9271	5|10	.|0.30078	.|T	.|0.28	.|.	17.546|17.546	0.87861|0.87861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|76;1703	.|O60229-5;O60229	.|.;KALRN_HUMAN	T|N	1672|1703;76	.|ENSP00000353109:S1703N;ENSP00000377134:S76N	.|ENSP00000353109:S1703N	A|S	+|+	1|2	0|0	KALRN|KALRN	125764558|125764558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.479000|6.479000	0.73600|0.73600	2.441000|2.441000	0.82636|0.82636	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.652	KALRN-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000258840.2	NM_003947		11	41	0	0	0	0.008291	0	11	41				
TF	7018	broad.mit.edu	37	3	133494456	133494456	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:133494456C>A	ENST00000402696.3	+	15	2352	c.1867C>A	c.(1867-1869)Cag>Aag	p.Q623K	TF_ENST00000264998.3_Missense_Mutation_p.Q496K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	623	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.Q623K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	ATTACGTCAACAGCAGGTATG	0.537																																							uc003epu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1867-1869)CAG>AAG		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						108.0	104.0	105.0					3																	133494456		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133494456C>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1867C>A	3.37:g.133494456C>A	ENSP00000385834:p.Gln623Lys					TF_uc011blt.1_Missense_Mutation_p.Q496K|TF_uc003epw.1_Missense_Mutation_p.Q62K|TF_uc003epv.1_Missense_Mutation_p.Q623K	p.Q623K	NM_001063	NP_001054	P02787	TRFE_HUMAN			20	3595	+			623			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1867C>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633631	0.47049	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.31769	1.48;1.48	4.92	4.04	0.47022	.	0.059799	0.64402	D	0.000002	T	0.59252	0.2180	M	0.85777	2.775	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67647	-0.5617	10	0.87932	D	0	-17.3736	14.2939	0.66298	0.0:0.8499:0.1501:0.0	.	349;623	B4DHZ6;P02787	.;TRFE_HUMAN	K	623;496	ENSP00000385834:Q623K;ENSP00000264998:Q496K	ENSP00000264998:Q496K	Q	+	1	0	TF	134977146	0.994000	0.37717	0.625000	0.29200	0.018000	0.09664	3.277000	0.51654	1.276000	0.44395	0.491000	0.48974	CAG		0.537	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		4	47	1	0	0.00024832	0.000248	0.000325365	4	47				
DZIP1L	199221	broad.mit.edu	37	3	137822353	137822353	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:137822353T>A	ENST00000327532.2	-	2	823	c.461A>T	c.(460-462)cAg>cTg	p.Q154L	DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q154L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	154					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.Q154L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TAGCAGCTGCTGCAGGGTGCT	0.657																																							uc003erq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(460-462)CAG>CTG		DAZ interacting protein 1-like							46.0	43.0	44.0					3																	137822353		2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137822353T>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.461A>T	3.37:g.137822353T>A	ENSP00000332148:p.Gln154Leu					DZIP1L_uc003err.1_Missense_Mutation_p.Q154L	p.Q154L	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			2	824	-			154					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.461A>T	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952527	0.73787	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.39056	1.1;1.23	4.66	3.5	0.40072	.	0.000000	0.64402	D	0.000004	T	0.60560	0.2278	M	0.82323	2.585	0.46609	D	0.999126	D;D	0.63880	0.993;0.993	D;P	0.65773	0.938;0.787	T	0.61931	-0.6961	10	0.87932	D	0	-5.7515	6.8307	0.23909	0.0:0.105:0.0:0.895	.	154;154	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	L	154	ENSP00000332148:Q154L;ENSP00000419486:Q154L	ENSP00000332148:Q154L	Q	-	2	0	DZIP1L	139305043	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.285000	0.58989	0.820000	0.34516	-0.250000	0.11733	CAG		0.657	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		4	19	0	0	0	0.000248	0	4	19				
TRPC1	7220	broad.mit.edu	37	3	142523341	142523341	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:142523341A>G	ENST00000476941.1	+	12	2509	c.2023A>G	c.(2023-2025)Aaa>Gaa	p.K675E	TRPC1_ENST00000273482.6_Missense_Mutation_p.K641E	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	675					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.K641E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CTTTGATGACAAATGTACGTT	0.348																																							uc003evc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2023-2025)AAA>GAA		transient receptor potential cation channel,							95.0	91.0	93.0					3																	142523341		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142523341A>G	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2023A>G	3.37:g.142523341A>G	ENSP00000419313:p.Lys675Glu					TRPC1_uc003evb.2_Missense_Mutation_p.K641E	p.K675E	NM_003304	NP_003295	P48995	TRPC1_HUMAN			12	2159	+			675					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.2023A>G	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958305	0.73902	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.82619	-1.63;-1.63	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	N	0.16903	0.455	0.80722	D	1	P;B	0.46656	0.882;0.056	B;B	0.43701	0.428;0.113	T	0.80018	-0.1558	10	0.87932	D	0	-4.1587	14.692	0.69093	1.0:0.0:0.0:0.0	.	675;641	P48995;P48995-2	TRPC1_HUMAN;.	E	675;641	ENSP00000419313:K675E;ENSP00000273482:K641E	ENSP00000273482:K641E	K	+	1	0	TRPC1	144006031	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	9.268000	0.95675	1.924000	0.55735	0.528000	0.53228	AAA		0.348	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		6	42	0	0	0	0.001984	0	6	42				
ZIC1	7545	broad.mit.edu	37	3	147128031	147128031	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:147128031G>T	ENST00000282928.4	+	1	861	c.132G>T	c.(130-132)atG>atT	p.M44I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	44					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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.M44I(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCGACGGCATGGGCGCCTTCA	0.716																																							uc003ewe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(130-132)ATG>ATT		zinc finger protein of the cerebellum 1							33.0	36.0	35.0					3																	147128031		2203	4295	6498	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128031G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.132G>T	3.37:g.147128031G>T	ENSP00000282928:p.Met44Ile						p.M44I	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	851	+			44					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.132G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069936	0.55539	.	.	ENSG00000152977	ENST00000282928	T	0.12672	2.66	3.72	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	M	0.71036	2.16	0.58432	D	0.999999	P	0.48998	0.918	D	0.68192	0.956	T	0.10520	-1.0626	10	0.54805	T	0.06	.	12.3503	0.55144	0.0:0.1713:0.8287:0.0	.	44	Q15915	ZIC1_HUMAN	I	44	ENSP00000282928:M44I	ENSP00000282928:M44I	M	+	3	0	ZIC1	148610721	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.473000	0.73572	1.625000	0.50366	0.442000	0.29010	ATG		0.716	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		5	41	1	0	0.00116845	0.001168	0.00142726	5	41				
GPR87	53836	broad.mit.edu	37	3	151012145	151012145	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:151012145C>G	ENST00000260843.4	-	3	1353	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	297					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.E297*(1)|p.E297Q(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGTAATTTCTTTGCAGTAA	0.333																																							uc003eyt.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)	large_intestine(1)	1						c.(889-891)GAA>CAA		G protein-coupled receptor 87							101.0	105.0	103.0					3																	151012145		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012145C>G	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.889G>C	3.37:g.151012145C>G	ENSP00000260843:p.Glu297Gln					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.E297Q	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1250	-			297			Extracellular (Potential).		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.889G>C	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923968	0.73213	.	.	ENSG00000138271	ENST00000260843	T	0.26957	1.7	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	M	0.79123	2.44	0.53688	D	0.999975	D	0.52996	0.957	P	0.56788	0.806	T	0.31613	-0.9937	10	0.13853	T	0.58	-12.03	19.2508	0.93925	0.0:1.0:0.0:0.0	.	297	Q9BY21	GPR87_HUMAN	Q	297	ENSP00000260843:E297Q	ENSP00000260843:E297Q	E	-	1	0	GPR87	152494835	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	3.651000	0.54431	2.719000	0.93026	0.655000	0.94253	GAA		0.333	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			5	73	0	0	0	0.001168	0	5	73				
MED12L	116931	broad.mit.edu	37	3	151082916	151082916	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:151082916G>T	ENST00000474524.1	+	20	3040	c.3002G>T	c.(3001-3003)aGt>aTt	p.S1001I	MED12L_ENST00000273432.4_Missense_Mutation_p.S861I|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1001						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S1001I(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)			AAGATCCTCAGTGACAATGCG	0.483																																							uc003eyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3001-3003)AGT>ATT		mediator of RNA polymerase II transcription,							212.0	201.0	205.0					3																	151082916		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151082916G>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.3002G>T	3.37:g.151082916G>T	ENSP00000417235:p.Ser1001Ile					MED12L_uc011bnz.1_Missense_Mutation_p.S861I|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S164I	p.S1001I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		20	3040	+			1001					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.3002G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950438	0.73787	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.78924	-1.22;-1.22	5.6	4.72	0.59763	.	0.088766	0.85682	D	0.000000	T	0.80894	0.4711	L	0.40543	1.245	0.80722	D	1	D;D;D	0.61080	0.979;0.987;0.989	P;P;P	0.59825	0.864;0.461;0.648	T	0.82950	-0.0203	10	0.87932	D	0	-14.3901	13.6068	0.62052	0.0767:0.0:0.9233:0.0	.	861;1000;1001	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	I	1001;861	ENSP00000417235:S1001I;ENSP00000273432:S861I	ENSP00000273432:S861I	S	+	2	0	MED12L	152565606	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	2.791000	0.47829	1.464000	0.47987	0.650000	0.86243	AGT		0.483	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		15	131	1	0	3.45872e-05	0.004007	4.95473e-05	15	131				
MED12L	116931	broad.mit.edu	37	3	151101662	151101662	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:151101662C>A	ENST00000474524.1	+	32	4709	c.4671C>A	c.(4669-4671)gaC>gaA	p.D1557E	MED12L_ENST00000273432.4_Missense_Mutation_p.D1417E|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1557						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.D1557E(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)			GAACTGTTGACATGCACACTA	0.438																																							uc003eyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4669-4671)GAC>GAA		mediator of RNA polymerase II transcription,							88.0	76.0	80.0					3																	151101662		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151101662C>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4671C>A	3.37:g.151101662C>A	ENSP00000417235:p.Asp1557Glu					MED12L_uc011bnz.1_Missense_Mutation_p.D1417E|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.D720E	p.D1557E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		32	4709	+			1557					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4671C>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853016	0.71719	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.68331	-0.17;-0.32	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	L	0.55743	1.74	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.984	D;D;D	0.87578	0.998;0.978;0.967	T	0.78109	-0.2332	10	0.87932	D	0	-28.5726	11.5687	0.50822	0.0:0.8889:0.0:0.1111	.	1417;1556;1557	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	E	1557;1417	ENSP00000417235:D1557E;ENSP00000273432:D1417E	ENSP00000273432:D1417E	D	+	3	2	MED12L	152584352	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.957000	0.40392	2.788000	0.95919	0.650000	0.86243	GAC		0.438	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		3	13	1	0	0.00024832	0.000248	0.000325365	3	13				
B3GALNT1	8706	broad.mit.edu	37	3	160803765	160803765	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:160803765C>A	ENST00000392781.2	-	8	1525	c.778G>T	c.(778-780)Gta>Tta	p.V260L	B3GALNT1_ENST00000392780.1_Missense_Mutation_p.V260L|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.V260L|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.V260L|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.V260L|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.V260L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	260					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.V260L(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			ATGGGTTTTACGTGACCCATC	0.378																																							uc003fdv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(778-780)GTA>TTA		UDP-Gal:betaGlcNAc beta							66.0	65.0	65.0					3																	160803765		2203	4300	6503	SO:0001583	missense	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160803765C>A	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.778G>T	3.37:g.160803765C>A	ENSP00000376532:p.Val260Leu					B3GALNT1_uc003fdw.2_Missense_Mutation_p.V260L|B3GALNT1_uc003fdx.2_Missense_Mutation_p.V260L|B3GALNT1_uc003fdy.2_Missense_Mutation_p.V260L|B3GALNT1_uc003fdz.2_Missense_Mutation_p.V260L|B3GALNT1_uc003fea.2_Missense_Mutation_p.V260L|B3GALNT1_uc011bpa.1_Intron	p.V260L	NM_033169	NP_149359	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		5	1197	-			260			Lumenal (Potential).		D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	c.778G>T	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781534	0.49891	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.83	5.83	0.93111	.	0.097074	0.45361	D	0.000376	T	0.74283	0.3696	N	0.21240	0.645	0.34502	D	0.706109	P	0.47677	0.899	P	0.44394	0.448	T	0.80430	-0.1386	10	0.41790	T	0.15	.	10.6029	0.45377	0.0:0.8538:0.0:0.1462	.	260	O75752	B3GL1_HUMAN	L	260	ENSP00000323479:V260L;ENSP00000376530:V260L;ENSP00000376531:V260L;ENSP00000376532:V260L;ENSP00000418226:V260L;ENSP00000420163:V260L	ENSP00000323479:V260L	V	-	1	0	B3GALNT1	162286459	0.668000	0.27493	0.976000	0.42696	0.988000	0.76386	1.131000	0.31406	2.759000	0.94783	0.561000	0.74099	GTA		0.378	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		6	57	1	0	3.59834e-05	0.001168	5.08422e-05	6	57				
B3GALNT1	8706	broad.mit.edu	37	3	160804474	160804474	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:160804474C>A	ENST00000392781.2	-	8	816	c.69G>T	c.(67-69)ctG>ctT	p.L23L	B3GALNT1_ENST00000392780.1_Silent_p.L23L|B3GALNT1_ENST00000320474.4_Silent_p.L23L|B3GALNT1_ENST00000473285.1_Silent_p.L23L|B3GALNT1_ENST00000488170.1_Silent_p.L23L|B3GALNT1_ENST00000417187.1_Silent_p.L23L|B3GALNT1_ENST00000392779.2_Silent_p.L23L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	23					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.L23L(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GTGACAGCAGCAGGAGGCTCC	0.532																																							uc003fdv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(67-69)CTG>CTT		UDP-Gal:betaGlcNAc beta							57.0	51.0	53.0					3																	160804474		2203	4300	6503	SO:0001819	synonymous_variant	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160804474C>A	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.69G>T	3.37:g.160804474C>A						B3GALNT1_uc003fdw.2_Silent_p.L23L|B3GALNT1_uc003fdx.2_Silent_p.L23L|B3GALNT1_uc003fdy.2_Silent_p.L23L|B3GALNT1_uc003fdz.2_Silent_p.L23L|B3GALNT1_uc003fea.2_Silent_p.L23L|B3GALNT1_uc011bpa.1_Silent_p.L23L	p.L23L	NM_033169	NP_149359	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		5	488	-			23			Helical; Signal-anchor for type II membrane protein; (Potential).		D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Silent	SNP	ENST00000392781.2	37	c.69G>T	CCDS3193.1																																																																																				0.532	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		5	24	1	0	3.59834e-05	0.001168	5.08422e-05	5	24				
SI	6476	broad.mit.edu	37	3	164709192	164709192	+	Missense_Mutation	SNP	C	C	A	rs191598487		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:164709192C>A	ENST00000264382.3	-	44	5119	c.5057G>T	c.(5056-5058)cGt>cTt	p.R1686L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1686	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.R1686H(1)|p.R1686L(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)	GTGACCACCACGGACATGTAG	0.388										HNSCC(35;0.089)																													uc003fei.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(5056-5058)CGT>CTT		sucrase-isomaltase	Acarbose(DB00284)						148.0	136.0	140.0					3																	164709192		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.chr3:164709192C>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.5057G>T	3.37:g.164709192C>A	ENSP00000264382:p.Arg1686Leu	HNSCC(35;0.089)					p.R1686L	NM_001041	NP_001032	P14410	SUIS_HUMAN			44	5119	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1686			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.5057G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849625	0.91277	.	.	ENSG00000090402	ENST00000264382	D	0.88975	-2.45	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	M	0.93197	3.39	0.58432	D	0.999998	D	0.76494	0.999	D	0.74023	0.982	D	0.96994	0.9724	10	0.87932	D	0	.	17.6031	0.88030	0.0:1.0:0.0:0.0	.	1686	P14410	SUIS_HUMAN	L	1686	ENSP00000264382:R1686L	ENSP00000264382:R1686L	R	-	2	0	SI	166191886	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.778000	0.75043	2.476000	0.83614	0.467000	0.42956	CGT		0.388	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		9	47	1	0	3.09899e-07	0.004482	4.96537e-07	9	47				
SI	6476	broad.mit.edu	37	3	164714347	164714347	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:164714347C>A	ENST00000264382.3	-	40	4730	c.4668G>T	c.(4666-4668)agG>agT	p.R1556S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1556	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.R1556S(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)	TGTTGTGATTCCTTGAGTATG	0.353										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.(4666-4668)AGG>AGT		sucrase-isomaltase	Acarbose(DB00284)						87.0	84.0	85.0					3																	164714347		2202	4297	6499	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.chr3:164714347C>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.4668G>T	3.37:g.164714347C>A	ENSP00000264382:p.Arg1556Ser	HNSCC(35;0.089)					p.R1556S	NM_001041	NP_001032	P14410	SUIS_HUMAN			40	4730	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1556			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4668G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897125	0.52121	.	.	ENSG00000090402	ENST00000264382	D	0.95171	-3.63	4.69	-0.524	0.11920	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	H	0.94542	3.55	0.45662	D	0.998583	D	0.89917	1.0	D	0.97110	1.0	D	0.96093	0.9063	10	0.87932	D	0	.	9.9171	0.41442	0.0:0.3946:0.0:0.6054	.	1556	P14410	SUIS_HUMAN	S	1556	ENSP00000264382:R1556S	ENSP00000264382:R1556S	R	-	3	2	SI	166197041	1.000000	0.71417	0.987000	0.45799	0.764000	0.43329	0.599000	0.24089	-0.153000	0.11137	-0.482000	0.04802	AGG		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		5	67	1	0	1.024e-07	0.000602	1.70817e-07	5	67				
SKIL	6498	broad.mit.edu	37	3	170108878	170108878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:170108878C>T	ENST00000458537.3	+	5	2435	c.1726C>T	c.(1726-1728)Cag>Tag	p.Q576*	SKIL_ENST00000259119.4_Nonsense_Mutation_p.Q576*|SKIL_ENST00000426052.2_Nonsense_Mutation_p.Q556*|SKIL_ENST00000413427.2_Nonsense_Mutation_p.Q530*	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	576					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.Q576*(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGAAGAACAGCAGAATTTACA	0.313																																							uc003fgu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1726-1728)CAG>TAG		SKI-like isoform 1							51.0	55.0	54.0					3																	170108878		2203	4298	6501	SO:0001587	stop_gained	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170108878C>T	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1726C>T	3.37:g.170108878C>T	ENSP00000415243:p.Gln576*					SKIL_uc011bps.1_Nonsense_Mutation_p.Q556*|SKIL_uc003fgv.2_Nonsense_Mutation_p.Q530*|SKIL_uc003fgw.2_Nonsense_Mutation_p.Q576*	p.Q576*	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		6	2438	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		576			Potential.		A6NGT1|B4DT50|O00464|P12756|Q07501	Nonsense_Mutation	SNP	ENST00000458537.3	37	c.1726C>T	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	C	43	10.228248	0.99364	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	.	.	.	5.32	5.32	0.75619	.	0.126776	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-11.7067	19.0568	0.93069	0.0:1.0:0.0:0.0	.	.	.	.	X	576;556;530;576	.	ENSP00000259119:Q576X	Q	+	1	0	SKIL	171591572	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.744000	0.68664	2.519000	0.84933	0.650000	0.86243	CAG		0.313	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		4	25	0	0	0	0.000248	0	4	25				
SLC7A14	57709	broad.mit.edu	37	3	170198682	170198682	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:170198682A>T	ENST00000231706.5	-	7	1704	c.1389T>A	c.(1387-1389)gcT>gcA	p.A463A	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	463					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A463A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAGGAGAACAAGCTTCCTTCT	0.498																																							uc003fgz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1387-1389)GCT>GCA		solute carrier family 7 (cationic amino acid							144.0	135.0	138.0					3																	170198682		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198682A>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1389T>A	3.37:g.170198682A>T						CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.A463A	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1705	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		463					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.1389T>A	CCDS33892.1																																																																																				0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		4	60	0	0	0	0.000248	0	4	60				
FNDC3B	64778	broad.mit.edu	37	3	172028669	172028669	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:172028669G>C	ENST00000336824.4	+	11	1351	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	FNDC3B_ENST00000415807.2_Missense_Mutation_p.E418Q|FNDC3B_ENST00000416957.1_Missense_Mutation_p.E418Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	418	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.E418Q(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGAGTGGGATGAGGTAAGCTT	0.313																																							uc003fhy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1252-1254)GAG>CAG		fibronectin type III domain containing 3B							167.0	168.0	168.0					3																	172028669		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172028669G>C	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1252G>C	3.37:g.172028669G>C	ENSP00000338523:p.Glu418Gln					FNDC3B_uc003fhz.3_Missense_Mutation_p.E418Q|FNDC3B_uc003fia.2_Missense_Mutation_p.E349Q	p.E418Q	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	11	1424	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		418			Fibronectin type-III 2.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1252G>C	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389013	0.95988	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57595	0.39;0.39;0.39	5.97	5.97	0.96955	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	L	0.48174	1.505	0.80722	D	1	D;P	0.67145	0.996;0.908	D;P	0.79108	0.992;0.874	T	0.68685	-0.5343	10	0.72032	D	0.01	-25.3365	20.0086	0.97443	0.0:0.0:1.0:0.0	.	418;418	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	Q	418	ENSP00000411242:E418Q;ENSP00000338523:E418Q;ENSP00000389094:E418Q	ENSP00000338523:E418Q	E	+	1	0	FNDC3B	173511363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.709000	0.91379	2.835000	0.97688	0.591000	0.81541	GAG		0.313	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		14	71	0	0	0	0.003163	0	14	71				
SPATA16	83893	broad.mit.edu	37	3	172835231	172835231	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:172835231C>A	ENST00000351008.3	-	2	474	c.291G>T	c.(289-291)caG>caT	p.Q97H		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	97					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.Q97H(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTATCTTTGCCTGTTTCTTTC	0.388																																							uc003fin.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(289-291)CAG>CAT		spermatogenesis associated 16							487.0	447.0	460.0					3																	172835231		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835231C>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.291G>T	3.37:g.172835231C>A	ENSP00000341765:p.Gln97His						p.Q97H	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	449	-	Ovarian(172;0.00319)|Breast(254;0.197)		97					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.291G>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	9.751	1.167388	0.21621	.	.	ENSG00000144962	ENST00000351008	T	0.16597	2.33	5.27	2.38	0.29361	.	0.000000	0.52532	D	0.000074	T	0.08223	0.0205	N	0.08118	0	0.09310	N	0.999998	B	0.13145	0.007	B	0.06405	0.002	T	0.26677	-1.0096	10	0.87932	D	0	-12.319	7.8775	0.29603	0.0:0.5998:0.0:0.4002	.	97	Q9BXB7	SPT16_HUMAN	H	97	ENSP00000341765:Q97H	ENSP00000341765:Q97H	Q	-	3	2	SPATA16	174317925	0.973000	0.33851	0.987000	0.45799	0.685000	0.39939	0.241000	0.18065	0.554000	0.29061	0.650000	0.86243	CAG		0.388	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		18	129	1	0	3.99206e-14	0.007413	7.66043e-14	18	129				
KCNMB2	10242	broad.mit.edu	37	3	178546087	178546087	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:178546087T>A	ENST00000432997.1	+	4	701	c.349T>A	c.(349-351)Tac>Aac	p.Y117N	RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.Y117N|KCNMB2_ENST00000420517.2_Missense_Mutation_p.Y117N|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.Y117N	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	129					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.Y117N(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	CCTCCAGGTGTACGTTAACCT	0.473																																							uc003fjd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)TAC>AAC		calcium-activated potassium channel beta 2							104.0	88.0	94.0					3																	178546087		2203	4300	6503	SO:0001583	missense	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178546087T>A	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.349T>A	3.37:g.178546087T>A	ENSP00000407592:p.Tyr117Asn					uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.Y117N|KCNMB2_uc003fjf.2_Missense_Mutation_p.Y117N|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	p.Y117N	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		4	692	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		117			Extracellular (Potential).		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	c.349T>A	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350119	0.82132	.	.	ENSG00000197584	ENST00000437510;ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.99	4.83	0.62350	.	0.166402	0.56097	D	0.000040	T	0.27313	0.0670	L	0.43152	1.355	0.54753	D	0.999988	D	0.76494	0.999	D	0.72338	0.977	T	0.00759	-1.1578	10	0.38643	T	0.18	-16.8019	12.1512	0.54051	0.0:0.0665:0.0:0.9335	.	117	Q9Y691	KCMB2_HUMAN	N	117;117;117;117;117;98	ENSP00000395807:Y117N;ENSP00000408252:Y117N;ENSP00000397483:Y117N;ENSP00000407592:Y117N;ENSP00000351068:Y117N	ENSP00000351068:Y117N	Y	+	1	0	KCNMB2	180028781	1.000000	0.71417	0.750000	0.31169	0.989000	0.77384	5.902000	0.69869	1.082000	0.41137	0.533000	0.62120	TAC		0.473	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		7	32	0	0	0	0.001984	0	7	32				
RTP2	344892	broad.mit.edu	37	3	187416408	187416408	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:187416408G>T	ENST00000358241.1	-	2	984	c.556C>A	c.(556-558)Ccg>Acg	p.P186T		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	186					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.P186T(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TGGGCCCTCGGCTTGGAGGCT	0.597																																							uc003fro.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(556-558)CCG>ACG		receptor transporting protein 2							68.0	73.0	71.0					3																	187416408		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416408G>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.556C>A	3.37:g.187416408G>T	ENSP00000350976:p.Pro186Thr						p.P186T	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	985	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		186			Cytoplasmic (Potential).		Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.556C>A	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	1.535	-0.543242	0.04053	.	.	ENSG00000198471	ENST00000358241	T	0.13538	2.58	3.93	-2.63	0.06133	.	2.006330	0.02332	N	0.073983	T	0.07863	0.0197	N	0.17082	0.46	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.29971	-0.9994	10	0.52906	T	0.07	1.6846	0.9421	0.01358	0.4053:0.1517:0.2773:0.1657	.	186	Q5QGT7	RTP2_HUMAN	T	186	ENSP00000350976:P186T	ENSP00000350976:P186T	P	-	1	0	RTP2	188899102	0.091000	0.21658	0.005000	0.12908	0.005000	0.04900	0.066000	0.14489	-0.590000	0.05866	-0.379000	0.06801	CCG		0.597	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		6	41	1	0	0.00116845	0.001168	0.00142726	6	41				
MUC4	4585	broad.mit.edu	37	3	195497124	195497124	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:195497124A>G	ENST00000346145.4	-	5	692	c.653T>C	c.(652-654)gTc>gCc	p.V218A	MUC4_ENST00000349607.4_Missense_Mutation_p.V167A|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000463781.3_Missense_Mutation_p.V4454A	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1211					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V4454A(1)|p.V4326A(1)|p.V218A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGGCATTGACCCACGTGAC	0.587																																							uc011bto.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(12976-12978)GTC>GCC		mucin 4 isoform a							83.0	70.0	74.0					3																	195497124		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195497124A>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.653T>C	3.37:g.195497124A>G	ENSP00000304207:p.Val218Ala					MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.V18A|MUC4_uc011bti.1_Missense_Mutation_p.V18A|MUC4_uc011btj.1_Missense_Mutation_p.V195A|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Missense_Mutation_p.V218A|MUC4_uc003fvp.2_Missense_Mutation_p.V167A|MUC4_uc010hzu.1_Missense_Mutation_p.V1066A	p.V4326A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	7	13437	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1211			NIDO.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.12977T>C	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.408162	0.25378	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000392409	T;T;T	0.37411	1.2;1.56;1.51	5.2	1.5	0.22942	Nidogen, extracellular domain (2);	0.628216	0.14093	N	0.341858	T	0.35278	0.0926	L	0.50333	1.59	0.35567	D	0.805163	B;P;P;P	0.45078	0.064;0.85;0.814;0.814	B;P;P;P	0.47573	0.068;0.55;0.458;0.458	T	0.35919	-0.9769	10	0.34782	T	0.22	-10.3452	6.4666	0.21985	0.6787:0.0:0.3213:0.0	.	4326;1211;167;218	E7ESK3;Q99102;Q99102-12;Q99102-13	.;MUC4_HUMAN;.;.	A	167;218;4454;1180	ENSP00000338109:V167A;ENSP00000304207:V218A;ENSP00000417498:V4454A	ENSP00000304207:V218A	V	-	2	0	MUC4	196982758	0.554000	0.26522	0.310000	0.25168	0.823000	0.46562	0.608000	0.24223	0.025000	0.15241	0.515000	0.50301	GTC		0.587	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		3	16	0	0	0	0.004672	0	3	16				
ZNF595	152687	broad.mit.edu	37	4	85778	85778	+	3'UTR	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:85778G>T	ENST00000339368.6	+	0	587							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GTGCAGAAAGGAGTTAATAAT	0.318																																							uc003fzv.1		NA																	0					0						c.(382-384)GGA>GTA		zinc finger protein 595							88.0	94.0	92.0					4																	85778		2101	4263	6364	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:85778G>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*584G>T	4.37:g.85778G>T						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR	p.G128V	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	4	539	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	128						Missense_Mutation	SNP	ENST00000339368.6	37	c.383G>T																																																																																					0.318	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524		7	21	1	0	1.12685e-05	0.004482	1.66247e-05	7	21				
HAUS3	79441	broad.mit.edu	37	4	2238063	2238063	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:2238063T>A	ENST00000243706.4	-	4	1699	c.1470A>T	c.(1468-1470)gcA>gcT	p.A490A	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Intron|HAUS3_ENST00000443786.2_Silent_p.A490A|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	490					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.A490A(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAGCAGATACTGCCAACTGAT	0.358																																							uc003ges.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|breast(2)	4						c.(1468-1470)GCA>GCT		HAUS augmin-like complex, subunit 3							102.0	94.0	97.0					4																	2238063		2203	4300	6503	SO:0001819	synonymous_variant	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2238063T>A	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1470A>T	4.37:g.2238063T>A						POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Intron|HAUS3_uc003get.1_Silent_p.A490A	p.A490A	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN			4	1700	-			490			Potential.		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Silent	SNP	ENST00000243706.4	37	c.1470A>T	CCDS33941.1																																																																																				0.358	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		6	50	0	0	0	0.001984	0	6	50				
CRMP1	1400	broad.mit.edu	37	4	5844865	5844865	+	Missense_Mutation	SNP	C	C	T	rs146352571		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:5844865C>T	ENST00000397890.2	-	7	859	c.645G>A	c.(643-645)atG>atA	p.M215I	CRMP1_ENST00000324989.7_Missense_Mutation_p.M329I|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.M213I	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	215					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.M329I(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCGTGATGCCCATCTCCAGGA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19553	0.0		0.001	False		,,,				2504	0.0						uc003gip.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(643-645)ATG>ATA		collapsin response mediator protein 1 isoform 2		C	ILE/MET,ILE/MET	1,4405	2.1+/-5.4	0,1,2202	161.0	137.0	145.0		987,645	4.3	1.0	4	dbSNP_134	145	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	CRMP1	NM_001014809.1,NM_001313.3	10,10	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign,benign	329/687,215/573	5844865	4,13002	2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5844865C>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.645G>A	4.37:g.5844865C>T	ENSP00000380987:p.Met215Ile					CRMP1_uc003gin.1_Missense_Mutation_p.M127I|CRMP1_uc003giq.2_Missense_Mutation_p.M215I|CRMP1_uc003gir.2_Missense_Mutation_p.M210I|CRMP1_uc003gis.2_Missense_Mutation_p.M329I	p.M215I	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	8	746	-			215					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.645G>A	CCDS43207.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.22	2.470700	0.43942	2.27E-4	3.49E-4	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.89552	-2.53;-2.53;-2.53	4.32	4.32	0.51571	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.85898	0.5804	L	0.45137	1.4	0.80722	D	1	B;B;B;B	0.18968	0.002;0.001;0.0;0.032	B;B;B;B	0.26094	0.009;0.005;0.003;0.066	T	0.82741	-0.0307	10	0.39692	T	0.17	-35.8638	16.364	0.83307	0.0:1.0:0.0:0.0	.	329;213;215;152	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	I	329;215;215;213	ENSP00000321606:M329I;ENSP00000380987:M215I;ENSP00000425742:M213I	ENSP00000321606:M329I	M	-	3	0	CRMP1	5895766	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	7.185000	0.77714	2.408000	0.81797	0.591000	0.81541	ATG		0.542	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		8	68	0	0	0	0.008291	0	8	68				
GPR78	27201	broad.mit.edu	37	4	8589020	8589020	+	Missense_Mutation	SNP	C	C	T	rs373876676		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:8589020C>T	ENST00000382487.4	+	3	1439	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	341					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P341L(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AAGAGAACCCCGCGCCCAGCG	0.637																																							uc003glk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)	6						c.(1021-1023)CCG>CTG		G protein-coupled receptor 78							44.0	49.0	47.0					4																	8589020		2203	4298	6501	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8589020C>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.1022C>T	4.37:g.8589020C>T	ENSP00000371927:p.Pro341Leu					CPZ_uc003gll.2_Intron	p.P341L	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			3	1441	+			341			Cytoplasmic (Potential).		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.1022C>T	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836272	0.32421	.	.	ENSG00000155269	ENST00000382487	T	0.60299	0.2	1.91	-1.78	0.07957	.	.	.	.	.	T	0.26231	0.0640	N	0.08118	0	0.09310	N	1	B	0.30686	0.29	B	0.11329	0.006	T	0.07539	-1.0767	9	0.31617	T	0.26	.	2.8987	0.05699	0.0:0.4144:0.2411:0.3445	.	341	Q96P69	GPR78_HUMAN	L	341	ENSP00000371927:P341L	ENSP00000371927:P341L	P	+	2	0	GPR78	8639920	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.807000	0.04393	-0.339000	0.08088	CCG		0.637	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			3	39	0	0	0	0.004672	0	3	39				
USP17L16P	100287302	broad.mit.edu	37	4	9241830	9241830	+	IGR	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:9241830C>A								USP17L15 (4130 upstream) : USP17L17 (3774 downstream)																							TGCTGGTCCACGCTGAGTGGA	0.493																																							uc011bwo.1		NA																	0					NA						c.(721-723)CAC>CAA		RecName: Full=Ubiquitin carboxyl-terminal hydrolase 17-like protein 2;          EC=3.1.2.15; AltName: Full=Ubiquitin thioesterase 17-like protein 2; AltName: Full=Ubiquitin-specific-processing protease 17-like protein 2; AltName: Full=Deubiquitinating enzyme 17-like protein 2; AltName: Full=Deubiquitinating protein 3;          Short=DUB-3;																																				SO:0001628	intergenic_variant	0							g.chr4:9241830C>A																													4.37:g.9241830C>A							p.H241Q							1	975	+									Missense_Mutation	SNP		37	c.723C>A																																																																																				0	0.493									8	51	1	0	0.00448238	0.004482	0.00529312	8	51				
APBB2	323	broad.mit.edu	37	4	40895341	40895341	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:40895341T>C	ENST00000295974.8	-	11	1968	c.1339A>G	c.(1339-1341)Atc>Gtc	p.I447V	APBB2_ENST00000506352.1_Missense_Mutation_p.I426V|APBB2_ENST00000513140.1_Missense_Mutation_p.I426V|APBB2_ENST00000508593.1_Missense_Mutation_p.I448V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	447	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.I426V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTTGCCTGATGCAGTTGTTG	0.512																																					Ovarian(3;20 75 16686 49997)	Ovarian(3;20 75 16686 49997)	uc003gvl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1339-1341)ATC>GTC		amyloid beta A4 precursor protein-binding,							210.0	215.0	213.0					4																	40895341		1987	4164	6151	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40895341T>C	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1339A>G	4.37:g.40895341T>C	ENSP00000295974:p.Ile447Val					APBB2_uc010ifu.2_Missense_Mutation_p.I19V|APBB2_uc003gvm.2_Missense_Mutation_p.I426V|APBB2_uc003gvn.2_Missense_Mutation_p.I448V|APBB2_uc011byt.1_Missense_Mutation_p.I409V	p.I447V	NM_173075	NP_775098	Q92870	APBB2_HUMAN			11	1969	-			447			PID 1.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1339A>G	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.661695|4.661695	0.88154|0.88154	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	.|T;T;T;T	.|0.21191	.|2.02;2.02;2.02;2.02	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	.|0.047019	.|0.85682	.|D	.|0.000000	T|T	0.50956|0.50956	0.1646|0.1646	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.63046	.|0.856;0.992;0.99;0.992	.|P;D;D;D	.|0.79108	.|0.881;0.992;0.986;0.992	T|T	0.57418|0.57418	-0.7815|-0.7815	5|10	.|0.87932	.|D	.|0	-21.4643|-21.4643	15.8578|15.8578	0.78994|0.78994	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|409;448;426;447	.|B4DJ88;E9PG87;Q92870-2;Q92870	.|.;.;.;APBB2_HUMAN	R|V	416|447;446;426;448;426	.|ENSP00000295974:I447V;ENSP00000426018:I426V;ENSP00000427211:I448V;ENSP00000421539:I426V	.|ENSP00000295974:I447V	H|I	-|-	2|1	0|0	APBB2|APBB2	40590098|40590098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.779000|0.779000	0.44077|0.44077	7.963000|7.963000	0.87922|0.87922	2.147000|2.147000	0.66899|0.66899	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.512	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		10	111	0	0	0	0.001368	0	10	111				
GABRG1	2565	broad.mit.edu	37	4	46099313	46099313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:46099313C>T	ENST00000295452.4	-	2	325	c.158G>A	c.(157-159)tGg>tAg	p.W53*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	53					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.W53*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)|Ketazolam(DB01587)|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)	GGCCAAGACCCAGGTTTTGTT	0.358																																							uc003gxb.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(157-159)TGG>TAG		gamma-aminobutyric acid A receptor, gamma 1							185.0	187.0	186.0					4																	46099313		2203	4300	6503	SO:0001587	stop_gained	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099313C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.158G>A	4.37:g.46099313C>T	ENSP00000295452:p.Trp53*						p.W53*	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	310	-			53			Extracellular (Probable).		Q5H9T8	Nonsense_Mutation	SNP	ENST00000295452.4	37	c.158G>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	36	5.697945	0.96802	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	4.96	4.96	0.65561	.	1.324360	0.04682	N	0.412584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3741	0.87386	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000295452:W53X	W	-	2	0	GABRG1	45794070	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.319000	0.79040	2.567000	0.86603	0.655000	0.94253	TGG		0.358	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		6	106	0	0	0	0.001984	0	6	106				
GABRB1	2560	broad.mit.edu	37	4	47427945	47427945	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:47427945T>A	ENST00000295454.3	+	9	1627	c.1335T>A	c.(1333-1335)gaT>gaA	p.D445E	GABRB1_ENST00000538619.1_Missense_Mutation_p.D375E	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	445					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|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)|ligand-gated ion channel activity (GO:0015276)	p.D445E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	ACTTGACTGATGTGAATTCCA	0.537																																							uc003gxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1333-1335)GAT>GAA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						103.0	100.0	101.0					4																	47427945		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427945T>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1335T>A	4.37:g.47427945T>A	ENSP00000295454:p.Asp445Glu					GABRB1_uc011bze.1_Missense_Mutation_p.D375E	p.D445E	NM_000812	NP_000803	P18505	GBRB1_HUMAN			9	1709	+			445			Cytoplasmic (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1335T>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998940	0.74818	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85556	-2.0;-2.0	5.34	-2.29	0.06805	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.060211	0.64402	D	0.000005	D	0.91676	0.7369	M	0.90309	3.105	0.54753	D	0.999988	D;D	0.76494	0.999;0.977	D;P	0.80764	0.994;0.571	D	0.90161	0.4228	10	0.62326	D	0.03	-20.0621	11.6592	0.51337	0.0:0.2699:0.0:0.7301	.	375;445	F5GXV5;P18505	.;GBRB1_HUMAN	E	445;375	ENSP00000295454:D445E;ENSP00000440330:D375E	ENSP00000295454:D445E	D	+	3	2	GABRB1	47122702	0.450000	0.25697	0.978000	0.43139	0.952000	0.60782	-0.280000	0.08468	-0.559000	0.06110	-0.137000	0.14449	GAT		0.537	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			23	81	0	0	0	0.004656	0	23	81				
PDGFRA	5156	broad.mit.edu	37	4	55152085	55152085	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:55152085G>T	ENST00000257290.5	+	18	2848	c.2517G>T	c.(2515-2517)ctG>ctT	p.L839L	FIP1L1_ENST00000507166.1_Silent_p.L599L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L839L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ACTTTGGCCTGGCCAGAGACA	0.488			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - coding silent(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2515-2517)CTG>CTT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						208.0	188.0	195.0					4																	55152085		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55152085G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2517G>T	4.37:g.55152085G>T		TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Silent_p.L599L	p.L839L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		18	2848	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		839			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.2517G>T	CCDS3495.1																																																																																				0.488	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		8	96	1	0	0.000157383	0.00308	0.000211083	8	96				
KDR	3791	broad.mit.edu	37	4	55981471	55981471	+	Missense_Mutation	SNP	T	T	C	rs561980415	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:55981471T>C	ENST00000263923.4	-	4	761	c.466A>G	c.(466-468)Aat>Gat	p.N156D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	156	Ig-like C2-type 2.				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)	p.N156D(1)		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)	ACGTTGAGATTTGAAATGGAC	0.363			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			T|||	2	0.000399361	0.0	0.0	5008	,	,		16433	0.0		0.0	False		,,,				2504	0.002						uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(466-468)AAT>GAT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						123.0	117.0	119.0					4																	55981471		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55981471T>C	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.466A>G	4.37:g.55981471T>C	ENSP00000263923:p.Asn156Asp	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.N156D|KDR_uc011bzx.1_Missense_Mutation_p.N156D	p.N156D	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		4	768	-	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)		156			Ig-like C2-type 2.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.466A>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	5.360	0.251662	0.10185	.	.	ENSG00000128052	ENST00000263923	T	0.27557	1.66	5.75	3.33	0.38152	Immunoglobulin-like fold (1);	0.145728	0.64402	N	0.000008	T	0.12178	0.0296	N	0.10707	0.03	0.38780	D	0.954748	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.21724	-1.0237	10	0.02654	T	1	.	8.727	0.34476	0.0:0.1479:0.0:0.8521	.	156;156	P35968-2;P35968	.;VGFR2_HUMAN	D	156	ENSP00000263923:N156D	ENSP00000263923:N156D	N	-	1	0	KDR	55676228	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.037000	0.41174	0.456000	0.26937	0.533000	0.62120	AAT		0.363	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			3	29	0	0	0	0.000248	0	3	29				
CEP135	9662	broad.mit.edu	37	4	56837457	56837457	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:56837457G>C	ENST00000257287.4	+	10	1256	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	378					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E378Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATGCCAGAAAGAAAAGGAGAG	0.299																																							uc003hbi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1132-1134)GAA>CAA		centrosome protein 4							41.0	43.0	42.0					4																	56837457		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56837457G>C	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1132G>C	4.37:g.56837457G>C	ENSP00000257287:p.Glu378Gln					CEP135_uc003hbj.2_Missense_Mutation_p.E84Q	p.E378Q	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			10	1366	+	Glioma(25;0.08)|all_neural(26;0.101)		378			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1132G>C	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098911	0.56183	.	.	ENSG00000174799	ENST00000257287	T	0.51071	0.72	6.04	6.04	0.98038	.	0.091491	0.64402	D	0.000001	T	0.44052	0.1275	L	0.31120	0.905	0.38450	D	0.946922	P	0.41710	0.76	P	0.44860	0.462	T	0.25398	-1.0133	10	0.25751	T	0.34	.	17.4957	0.87717	0.0:0.1236:0.8764:0.0	.	378	Q66GS9	CP135_HUMAN	Q	378	ENSP00000257287:E378Q	ENSP00000257287:E378Q	E	+	1	0	CEP135	56532214	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.983000	0.63832	2.873000	0.98535	0.561000	0.74099	GAA		0.299	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		8	29	0	0	0	0.004482	0	8	29				
KIAA1211	57482	broad.mit.edu	37	4	57181776	57181776	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:57181776G>A	ENST00000504228.1	+	6	2213	c.2108G>A	c.(2107-2109)tGt>tAt	p.C703Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.C703Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.C696Y			Q6ZU35	K1211_HUMAN	KIAA1211	703								p.C703Y(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGGGCCGGTGTGATTCCCGC	0.587																																							uc003hbk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2107-2109)TGT>TAT		hypothetical protein LOC57482							56.0	66.0	63.0					4																	57181776		1970	4151	6121	SO:0001583	missense	57482							g.chr4:57181776G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2108G>A	4.37:g.57181776G>A	ENSP00000423366:p.Cys703Tyr					KIAA1211_uc010iha.2_Missense_Mutation_p.C696Y|KIAA1211_uc011bzz.1_Missense_Mutation_p.C613Y|KIAA1211_uc003hbm.1_Missense_Mutation_p.C589Y	p.C703Y	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2499	+	Glioma(25;0.08)|all_neural(26;0.101)		703					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2108G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065075	0.36470	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02197	4.4;4.4;4.4	4.26	2.39	0.29439	.	.	.	.	.	T	0.05410	0.0143	L	0.50333	1.59	0.09310	N	1	D;D;D	0.64830	0.991;0.991;0.994	P;P;P	0.50162	0.633;0.633;0.633	T	0.32851	-0.9891	9	0.56958	D	0.05	2.7985	14.5382	0.67976	0.0:0.4091:0.5909:0.0	.	696;696;703	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Y	703;703;696;613	ENSP00000264229:C703Y;ENSP00000423366:C703Y;ENSP00000444006:C696Y	ENSP00000264229:C703Y	C	+	2	0	KIAA1211	56876533	0.017000	0.18338	0.008000	0.14137	0.300000	0.27592	1.376000	0.34306	0.976000	0.38417	0.555000	0.69702	TGT		0.587	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	54	0	0	0	0.00308	0	7	54				
SHROOM3	57619	broad.mit.edu	37	4	77660267	77660267	+	Missense_Mutation	SNP	G	G	T	rs140762344	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:77660267G>T	ENST00000296043.6	+	5	1894	c.941G>T	c.(940-942)cGg>cTg	p.R314L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	314					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.R313L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TATGACACCCGGAGGGGAGTC	0.547																																							uc011cbx.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(940-942)CGG>CTG		shroom family member 3 protein							61.0	65.0	63.0					4																	77660267		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660267G>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.941G>T	4.37:g.77660267G>T	ENSP00000296043:p.Arg314Leu					SHROOM3_uc011cbz.1_Missense_Mutation_p.R138L|SHROOM3_uc003hkf.1_Missense_Mutation_p.R189L|SHROOM3_uc003hkg.2_Missense_Mutation_p.R92L	p.R314L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1894	+			314					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.941G>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456644	0.26161	.	.	ENSG00000138771	ENST00000296043	T	0.46819	0.86	6.17	2.1	0.27182	.	0.458250	0.21926	N	0.067094	T	0.43787	0.1263	M	0.67953	2.075	0.29172	N	0.877044	P;P;P	0.44090	0.826;0.826;0.826	B;B;B	0.40741	0.339;0.194;0.194	T	0.46527	-0.9185	10	0.72032	D	0.01	-15.3606	8.1573	0.31176	0.483:0.0:0.517:0.0	.	138;314;92	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	314	ENSP00000296043:R314L	ENSP00000296043:R314L	R	+	2	0	SHROOM3	77879291	1.000000	0.71417	0.999000	0.59377	0.076000	0.17211	3.165000	0.50778	0.496000	0.27904	-0.140000	0.14226	CGG		0.547	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		9	49	1	0	1.76689e-08	0.006214	3.00478e-08	9	49				
FRAS1	80144	broad.mit.edu	37	4	79460460	79460460	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:79460460C>T	ENST00000264895.6	+	73	11751	c.11311C>T	c.(11311-11313)Cca>Tca	p.P3771S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3767					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.P3772S(1)|p.P3771S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCGCAATCAGCCAGAGGTAAC	0.443																																							uc003hlb.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(5)	5						c.(11311-11313)CCA>TCA		Fraser syndrome 1							130.0	126.0	128.0					4																	79460460		1916	4120	6036	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79460460C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11311C>T	4.37:g.79460460C>T	ENSP00000264895:p.Pro3771Ser						p.P3771S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			73	11751	+			3766			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11311C>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.014474|5.014474	0.93404|0.93404	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.67345	.|-0.26	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83959|0.83959	0.5367|0.5367	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.84928|0.84928	0.0858|0.0858	5|10	.|0.87932	.|D	.|0	.|.	20.2192|20.2192	0.98319|0.98319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3771	.|E9PHH6	.|.	V|S	1999|3771	.|ENSP00000264895:P3771S	.|ENSP00000264895:P3771S	A|P	+|+	2|1	0|0	FRAS1|FRAS1	79679484|79679484	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	7.659000|7.659000	0.83766|0.83766	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	62	0	0	0	0.001168	0	6	62				
MEPE	56955	broad.mit.edu	37	4	88766351	88766351	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:88766351G>T	ENST00000424957.3	+	4	404	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	MEPE_ENST00000361056.3_Missense_Mutation_p.G111C|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000497649.2_Missense_Mutation_p.G87C|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.G142C	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	111					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G111C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TACTCACAATGGCCTGAGGAT	0.363																																							uc003hqy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(331-333)GGC>TGC		matrix, extracellular phosphoglycoprotein with							71.0	72.0	72.0					4																	88766351		2203	4299	6502	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766351G>T	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.331G>T	4.37:g.88766351G>T	ENSP00000416984:p.Gly111Cys					MEPE_uc010ikn.2_5'UTR	p.G111C	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	370	+		Hepatocellular(203;0.114)	111					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.331G>T	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699407	0.48307	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000361056	T;T;T;T	0.46063	4.29;0.89;0.88;4.29	4.75	1.02	0.19986	.	0.367041	0.23380	N	0.048818	T	0.41650	0.1168	L	0.36672	1.1	0.09310	N	0.999994	D	0.71674	0.998	P	0.59288	0.855	T	0.24657	-1.0154	10	0.87932	D	0	-7.6056	4.1723	0.10336	0.2885:0.171:0.5405:0.0	.	111	Q9NQ76	MEPE_HUMAN	C	111;111;142;87;111	ENSP00000416984:G111C;ENSP00000378534:G142C;ENSP00000422747:G87C;ENSP00000354341:G111C	ENSP00000354341:G111C	G	+	1	0	MEPE	88985375	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.029000	0.12329	-0.021000	0.14009	0.655000	0.94253	GGC		0.363	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			5	35	1	0	3.59834e-05	0.001168	5.08422e-05	5	35				
HSP90AB3P	3327	broad.mit.edu	37	4	88813169	88813169	+	IGR	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:88813169C>T								MEPE (45200 upstream) : SPP1 (83649 downstream)																							CTATGAGAGCCTGACAGACCC	0.463																																							uc010iko.1		NA																	0					NA						c.(175-177)CTG>TTG		SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;																																				SO:0001628	intergenic_variant	0							g.chr4:88813169C>T																													4.37:g.88813169C>T							p.L59L							1	175	+									Silent	SNP		37	c.175C>T																																																																																				0	0.463									7	54	0	0	0	0.001984	0	7	54				
MMRN1	22915	broad.mit.edu	37	4	90857932	90857932	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:90857932A>G	ENST00000394980.1	+	7	3420	c.3101A>G	c.(3100-3102)gAc>gGc	p.D1034G	MMRN1_ENST00000508372.1_Missense_Mutation_p.D776G|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.D1034G			Q13201	MMRN1_HUMAN	multimerin 1	1034					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.D1034G(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)		AGAAACACGGACAACATAATA	0.348																																							uc003hst.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3100-3102)GAC>GGC		multimerin 1							44.0	47.0	46.0					4																	90857932		2010	4041	6051	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857932A>G	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.3101A>G	4.37:g.90857932A>G	ENSP00000378431:p.Asp1034Gly					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.D776G	p.D1034G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	3172	+		Hepatocellular(203;0.114)	1034					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3101A>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.183883	0.57800	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.68331	0.02;0.02;-0.32	4.83	4.83	0.62350	Concanavalin A-like lectin/glucanase, subgroup (1);	0.069759	0.64402	D	0.000020	T	0.75309	0.3832	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.58820	0.846	T	0.74293	-0.3712	10	0.32370	T	0.25	.	15.11	0.72349	1.0:0.0:0.0:0.0	.	1034	Q13201	MMRN1_HUMAN	G	1034;1034;776	ENSP00000378431:D1034G;ENSP00000264790:D1034G;ENSP00000426461:D776G	ENSP00000264790:D1034G	D	+	2	0	MMRN1	91076955	1.000000	0.71417	0.988000	0.46212	0.914000	0.54420	5.989000	0.70587	2.101000	0.63845	0.460000	0.39030	GAC		0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		6	27	0	0	0	0.001168	0	6	27				
GRID2	2895	broad.mit.edu	37	4	94411820	94411820	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:94411820C>A	ENST00000282020.4	+	12	2147	c.1889C>A	c.(1888-1890)aCc>aAc	p.T630N	GRID2_ENST00000510992.1_Missense_Mutation_p.T535N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	630					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.T630N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ACTCTGGCTACCCGAATGATG	0.428																																							uc011cdt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1888-1890)ACC>AAC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						144.0	151.0	149.0					4																	94411820		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94411820C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1889C>A	4.37:g.94411820C>A	ENSP00000282020:p.Thr630Asn					GRID2_uc011cdu.1_Missense_Mutation_p.T535N	p.T630N	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	12	2147	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	630			Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1889C>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930263	0.92389	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;T	0.97455	-4.39;0.53	5.36	5.36	0.76844	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	M	0.70787	2.145	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.76071	0.987;0.987	D	0.99421	1.0933	10	0.87932	D	0	.	19.09	0.93223	0.0:1.0:0.0:0.0	.	535;630	E9PH24;O43424	.;GRID2_HUMAN	N	630;535	ENSP00000282020:T630N;ENSP00000421257:T535N	ENSP00000282020:T630N	T	+	2	0	GRID2	94630843	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	5.717000	0.68446	2.505000	0.84491	0.585000	0.79938	ACC		0.428	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			7	56	1	0	0.00198382	0.001984	0.00238984	7	56				
MTTP	4547	broad.mit.edu	37	4	100503247	100503247	+	Missense_Mutation	SNP	A	A	G	rs370856172		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:100503247A>G	ENST00000265517.5	+	2	450	c.247A>G	c.(247-249)Acg>Gcg	p.T83A	MTTP_ENST00000457717.1_Missense_Mutation_p.T83A|MTTP_ENST00000511045.1_Missense_Mutation_p.T110A|MTTP_ENST00000422897.2_Missense_Mutation_p.T83A			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	83	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.T83A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GATCCAAATAACGGTGGGCAT	0.428																																							uc003hvc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(247-249)ACG>GCG		microsomal triglyceride transfer protein large	Hesperetin(DB01094)	A	ALA/THR	0,4406		0,0,2203	113.0	102.0	106.0		247	3.4	1.0	4		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTTP	NM_000253.2	58	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	83/895	100503247	1,13005	2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100503247A>G		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.247A>G	4.37:g.100503247A>G	ENSP00000265517:p.Thr83Ala					MTTP_uc011cej.1_Missense_Mutation_p.T110A|MTTP_uc003hvb.2_Missense_Mutation_p.T83A	p.T83A	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	3	503	+			83			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.247A>G	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	A	9.293	1.051089	0.19827	0.0	1.16E-4	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000422897;ENST00000538053	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.76	3.36	0.38483	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.420420	0.30667	N	0.009136	T	0.32763	0.0840	L	0.50919	1.6	0.27030	N	0.964265	B;B;B	0.28128	0.007;0.201;0.002	B;B;B	0.31946	0.011;0.138;0.003	T	0.25572	-1.0128	10	0.10902	T	0.67	-23.0954	7.6851	0.28536	0.7637:0.0:0.2363:0.0	.	110;83;83	E9PBP6;P55157;Q6P5T3	.;MTP_HUMAN;.	A	93;110;83;83;83;83	ENSP00000426755:T93A;ENSP00000427679:T110A;ENSP00000400821:T83A;ENSP00000265517:T83A;ENSP00000407350:T83A	ENSP00000265517:T83A	T	+	1	0	MTTP	100722270	1.000000	0.71417	0.958000	0.39756	0.899000	0.52679	3.530000	0.53539	0.473000	0.27368	0.533000	0.62120	ACG		0.428	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			5	39	0	0	0	0.000602	0	5	39				
EGF	1950	broad.mit.edu	37	4	110909824	110909824	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:110909824G>C	ENST00000265171.5	+	18	3138	c.2693G>C	c.(2692-2694)cGg>cCg	p.R898P	EGF_ENST00000509793.1_Missense_Mutation_p.R856P|EGF_ENST00000503392.1_Missense_Mutation_p.R898P	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	898	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R898P(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TATGTCTGCCGGTGCTCAGAA	0.532																																							uc003hzy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2692-2694)CGG>CCG		epidermal growth factor precursor	Sulindac(DB00605)						158.0	155.0	156.0					4																	110909824		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110909824G>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2693G>C	4.37:g.110909824G>C	ENSP00000265171:p.Arg898Pro					EGF_uc011cfu.1_Missense_Mutation_p.R856P|EGF_uc011cfv.1_Missense_Mutation_p.R898P|EGF_uc010imk.2_Intron	p.R898P	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	18	3145	+		Hepatocellular(203;0.0893)	898			EGF-like 7; calcium-binding (Potential).|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.2693G>C	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	7.605	0.673550	0.14776	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;D;D	0.92595	1.97;-3.07;-2.25	5.25	-8.1	0.01086	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	3.081050	0.01579	N	0.020946	D	0.87920	0.6299	L	0.28400	0.85	0.09310	N	1	B;B;B	0.31599	0.33;0.283;0.33	B;B;B	0.38712	0.28;0.184;0.28	T	0.80591	-0.1314	10	0.46703	T	0.11	.	11.7383	0.51778	0.6463:0.0846:0.2691:0.0	.	898;856;898	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	P	856;898;898	ENSP00000424316:R856P;ENSP00000265171:R898P;ENSP00000421384:R898P	ENSP00000265171:R898P	R	+	2	0	EGF	111129273	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.681000	0.05191	-1.874000	0.01133	-1.728000	0.00702	CGG		0.532	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			10	44	0	0	0	0.008291	0	10	44				
ELOVL6	79071	broad.mit.edu	37	4	110972668	110972668	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:110972668C>A	ENST00000394607.3	-	5	787	c.624G>T	c.(622-624)atG>atT	p.M208I	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M208I			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	208					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.M208I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		CCACACAGCCCATCAGCATCT	0.517																																							uc003hzz.2		NA																	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(622-624)ATG>ATT		elongation of very long chain fatty acids-like							116.0	99.0	105.0					4																	110972668		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972668C>A	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.624G>T	4.37:g.110972668C>A	ENSP00000378105:p.Met208Ile					ELOVL6_uc003iaa.2_Missense_Mutation_p.M208I	p.M208I	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	750	-			208			Helical; (Potential).		Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.624G>T	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	C	4.993	0.184494	0.09495	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.18810	2.19;2.19	5.97	3.36	0.38483	.	0.231201	0.64402	N	0.000020	T	0.07188	0.0182	N	0.10645	0.015	0.45150	D	0.998161	B	0.02656	0.0	B	0.04013	0.001	T	0.24657	-1.0154	10	0.05959	T	0.93	-10.5153	3.4402	0.07461	0.112:0.5749:0.1207:0.1924	.	208	Q9H5J4	ELOV6_HUMAN	I	208	ENSP00000378105:M208I;ENSP00000304736:M208I	ENSP00000304736:M208I	M	-	3	0	ELOVL6	111192117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.306000	0.33505	0.434000	0.26340	0.655000	0.94253	ATG		0.517	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		7	34	1	0	8.12818e-05	0.001984	0.000110582	7	34				
ANK2	287	broad.mit.edu	37	4	114276332	114276332	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:114276332G>T	ENST00000357077.4	+	38	6611	c.6558G>T	c.(6556-6558)gaG>gaT	p.E2186D	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2153D|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2186					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E2186D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAAGATGAGTTCCTTCCAG	0.493																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(6556-6558)GAG>GAT		ankyrin 2 isoform 1							120.0	114.0	116.0					4																	114276332		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114276332G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6558G>T	4.37:g.114276332G>T	ENSP00000349588:p.Glu2186Asp					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E2201D	p.E2186D	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6658	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2153					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6558G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	2.784	-0.252797	0.05829	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68479	-0.32;-0.33	5.87	-5.72	0.02406	.	0.336117	0.25310	N	0.031590	T	0.51109	0.1655	L	0.48362	1.52	0.19300	N	0.999978	P;P	0.45176	0.769;0.852	B;B	0.41510	0.197;0.359	T	0.54159	-0.8335	9	.	.	.	.	9.604	0.39622	0.5972:0.1818:0.221:0.0	.	2153;2186	Q01484;Q01484-4	ANK2_HUMAN;.	D	2186;2153	ENSP00000349588:E2186D;ENSP00000264366:E2153D	.	E	+	3	2	ANK2	114495781	0.058000	0.20735	0.004000	0.12327	0.259000	0.26198	-0.483000	0.06536	-1.210000	0.02627	-0.140000	0.14226	GAG		0.493	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	40	1	0	3.09899e-07	0.004482	4.96537e-07	8	40				
TRPC3	7222	broad.mit.edu	37	4	122833087	122833087	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:122833087C>A	ENST00000379645.3	-	5	1576	c.1503G>T	c.(1501-1503)agG>agT	p.R501S	TRPC3_ENST00000513531.1_Missense_Mutation_p.R373S|TRPC3_ENST00000264811.5_Missense_Mutation_p.R428S	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	416					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R428S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGTTTTCACCCTGAAGATCT	0.413																																							uc003ieg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1501-1503)AGG>AGT		transient receptor potential cation channel,							119.0	116.0	117.0					4																	122833087		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122833087C>A	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1503G>T	4.37:g.122833087C>A	ENSP00000368966:p.Arg501Ser					TRPC3_uc010inr.2_Missense_Mutation_p.R373S|TRPC3_uc003ief.2_Missense_Mutation_p.R428S|TRPC3_uc011cgl.1_Missense_Mutation_p.R165S	p.R501S	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			5	1577	-			416			Cytoplasmic (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1503G>T	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583712	0.65992	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.77358	-0.87;-1.09;-1.08	5.47	5.47	0.80525	.	0.116200	0.56097	D	0.000029	D	0.83175	0.5197	M	0.79475	2.455	0.53688	D	0.999977	B;B;P	0.37663	0.054;0.114;0.604	B;B;B	0.43867	0.094;0.065;0.434	D	0.83639	0.0149	10	0.49607	T	0.09	-47.3718	19.3186	0.94226	0.0:1.0:0.0:0.0	.	416;373;501	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	S	428;501;373	ENSP00000264811:R428S;ENSP00000368966:R501S;ENSP00000426899:R373S	ENSP00000264811:R428S	R	-	3	2	TRPC3	123052537	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	1.146000	0.31589	2.577000	0.86979	0.561000	0.74099	AGG		0.413	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		6	55	1	0	2.0095e-06	0.001984	3.08069e-06	6	55				
FAT4	79633	broad.mit.edu	37	4	126242248	126242248	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:126242248G>A	ENST00000394329.3	+	1	4695	c.4682G>A	c.(4681-4683)gGa>gAa	p.G1561E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1561	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1561E(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTGCTAATGGAGAAATAGAG	0.463																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4681-4683)GGA>GAA		FAT tumor suppressor homolog 4 precursor							122.0	118.0	119.0					4																	126242248		2007	4193	6200	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242248G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4682G>A	4.37:g.126242248G>A	ENSP00000377862:p.Gly1561Glu						p.G1561E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4682	+			1561			Cadherin 15.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4682G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631127	0.67015	.	.	ENSG00000196159	ENST00000394329	T	0.51817	0.69	4.35	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.000000	0.33712	U	0.004622	T	0.73071	0.3540	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79227	-0.1890	10	0.66056	D	0.02	.	17.4402	0.87562	0.0:0.0:1.0:0.0	.	1561	Q6V0I7	FAT4_HUMAN	E	1561	ENSP00000377862:G1561E	ENSP00000377862:G1561E	G	+	2	0	FAT4	126461698	1.000000	0.71417	0.994000	0.49952	0.895000	0.52256	7.324000	0.79115	2.420000	0.82092	0.655000	0.94253	GGA		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	100	0	0	0	0.006214	0	10	100				
PCDH10	57575	broad.mit.edu	37	4	134073228	134073228	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:134073228C>G	ENST00000264360.5	+	1	2759	c.1933C>G	c.(1933-1935)Ccg>Gcg	p.P645A	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	645	Cadherin 6. {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.P645A(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACGCCGAGTCCCGGCCAAGCG	0.662																																							uc003iha.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1933-1935)CCG>GCG		protocadherin 10 isoform 1 precursor							25.0	30.0	28.0					4																	134073228		2185	4277	6462	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073228C>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1933C>G	4.37:g.134073228C>G	ENSP00000264360:p.Pro645Ala					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P645A	p.P645A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2759	+			645			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1933C>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	4.159	0.027968	0.08054	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52983	0.64	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.000000	0.43260	D	0.000590	T	0.25938	0.0632	N	0.11818	0.18	0.38770	D	0.954527	B;B	0.23249	0.082;0.002	B;B	0.24974	0.057;0.003	T	0.11518	-1.0584	10	0.06365	T	0.9	.	11.7517	0.51852	0.1761:0.8239:0.0:0.0	.	645;645	Q9P2E7;Q96SF0	PCD10_HUMAN;.	A	645	ENSP00000264360:P645A	ENSP00000264360:P645A	P	+	1	0	PCDH10	134292678	0.253000	0.23982	1.000000	0.80357	0.928000	0.56348	2.675000	0.46875	2.207000	0.71202	0.655000	0.94253	CCG		0.662	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		5	40	0	0	0	0.000602	0	5	40				
PCDH18	54510	broad.mit.edu	37	4	138451556	138451556	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:138451556C>G	ENST00000344876.4	-	1	2073	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.V563L|PCDH18_ENST00000507846.1_Missense_Mutation_p.V343L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	563	Cadherin 5. {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.V563L(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)					ATGGTGAGCACAACTGTGGTA	0.453																																							uc003ihe.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(2)	5						c.(1687-1689)GTG>CTG		protocadherin 18 precursor							173.0	166.0	169.0					4																	138451556		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451556C>G	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.1687G>C	4.37:g.138451556C>G	ENSP00000355082:p.Val563Leu					PCDH18_uc003ihf.3_Missense_Mutation_p.V556L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.V343L|PCDH18_uc011cha.1_Intron	p.V563L	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2074	-	all_hematologic(180;0.24)		563			Extracellular (Potential).|Cadherin 5.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1687G>C	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380474	0.24944	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51817	0.69;0.69;0.69	5.93	5.93	0.95920	Cadherin (5);Cadherin-like (1);	0.000000	0.39020	N	0.001491	T	0.30324	0.0761	N	0.12637	0.245	0.80722	D	1	B;B;B	0.18863	0.008;0.001;0.031	B;B;B	0.15870	0.009;0.002;0.014	T	0.09314	-1.0680	10	0.27785	T	0.31	.	13.5308	0.61621	0.0:0.9291:0.0:0.0709	.	343;563;563	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	L	563;563;343	ENSP00000355082:V563L;ENSP00000390688:V563L;ENSP00000425903:V343L	ENSP00000355082:V563L	V	-	1	0	PCDH18	138671006	0.940000	0.31905	0.992000	0.48379	0.933000	0.57130	2.161000	0.42358	2.802000	0.96397	0.563000	0.77884	GTG		0.453	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		23	115	0	0	0	0.00278	0	23	115				
POU4F2	5458	broad.mit.edu	37	4	147561855	147561855	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:147561855C>G	ENST00000281321.3	+	2	1373	c.1125C>G	c.(1123-1125)atC>atG	p.I375M	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	375					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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)	p.I375M(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CTGAAAAGATCGCCGCCATCG	0.577																																							uc003ikv.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1123-1125)ATC>ATG		Brn3b POU domain transcription factor							52.0	58.0	56.0					4																	147561855		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561855C>G	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1125C>G	4.37:g.147561855C>G	ENSP00000281321:p.Ile375Met						p.I375M	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1373	+	all_hematologic(180;0.151)		375			Homeobox.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.1125C>G	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550747	0.45383	.	.	ENSG00000151615	ENST00000281321	D	0.96830	-4.14	5.55	4.53	0.55603	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	L	0.33293	1	0.80722	D	1	D	0.60160	0.987	D	0.66497	0.944	D	0.95425	0.8511	10	0.87932	D	0	.	10.9581	0.47368	0.1327:0.7891:0.0:0.0781	.	375	Q12837	PO4F2_HUMAN	M	375	ENSP00000281321:I375M	ENSP00000281321:I375M	I	+	3	3	POU4F2	147781305	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.888000	0.28268	2.630000	0.89119	0.561000	0.74099	ATC		0.577	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		4	57	0	0	0	0.000248	0	4	57				
GRIA2	2891	broad.mit.edu	37	4	158224837	158224837	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:158224837A>T	ENST00000264426.9	+	3	642	c.363A>T	c.(361-363)acA>acT	p.T121T	GRIA2_ENST00000449365.1_Silent_p.T74T|GRIA2_ENST00000296526.7_Silent_p.T121T|GRIA2_ENST00000507898.1_Silent_p.T74T|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000393815.2_Silent_p.T74T	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	121					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.T121T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CAGATGGCACACATCCATTTG	0.428																																							uc003ipm.3		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(361-363)ACA>ACT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						196.0	179.0	185.0					4																	158224837		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158224837A>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.363A>T	4.37:g.158224837A>T						GRIA2_uc011cit.1_Silent_p.T74T|GRIA2_uc003ipl.3_Silent_p.T121T|GRIA2_uc003ipk.3_Silent_p.T74T|GRIA2_uc010iqh.1_RNA	p.T121T	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	3	822	+	all_hematologic(180;0.24)	Renal(120;0.0458)	121			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.363A>T	CCDS43274.1																																																																																				0.428	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			4	69	0	0	0	0.001168	0	4	69				
SPOCK3	50859	broad.mit.edu	37	4	167663171	167663171	+	Missense_Mutation	SNP	C	C	A	rs138814470		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:167663171C>A	ENST00000357154.3	-	10	1117	c.980G>T	c.(979-981)cGg>cTg	p.R327L	SPOCK3_ENST00000534949.1_Missense_Mutation_p.R231L|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R229L|SPOCK3_ENST00000535728.1_Missense_Mutation_p.R195L|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R324L|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R327L|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R207L|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R327L|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R284L|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R229L|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R327L|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R324L|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R276L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R324L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	327	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.R324L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TACCCCTTGCCGCTTCTGAAT	0.378																																							uc003iri.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(979-981)CGG>CTG		testican 3 isoform 2							118.0	120.0	119.0					4																	167663171		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167663171C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.980G>T	4.37:g.167663171C>A	ENSP00000349677:p.Arg327Leu					SPOCK3_uc011cjp.1_Missense_Mutation_p.R284L|SPOCK3_uc011cjq.1_Missense_Mutation_p.R336L|SPOCK3_uc011cjr.1_Missense_Mutation_p.R207L|SPOCK3_uc003irj.1_Missense_Mutation_p.R324L|SPOCK3_uc011cjs.1_Missense_Mutation_p.R276L|SPOCK3_uc011cjt.1_Missense_Mutation_p.R235L|SPOCK3_uc011cju.1_Missense_Mutation_p.R220L|SPOCK3_uc011cjv.1_Missense_Mutation_p.R229L	p.R327L	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	10	1121	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	327			Thyroglobulin type-1.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.980G>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	7.770	0.707164	0.15239	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.23	3.1	0.35709	Thyroglobulin type-1 (4);	0.483471	0.23224	N	0.050531	T	0.40909	0.1136	N	0.16066	0.365	0.40796	D	0.983293	P;P;B;P;P;B;P	0.49862	0.705;0.807;0.013;0.929;0.875;0.447;0.846	P;B;B;P;B;B;B	0.45639	0.488;0.438;0.018;0.465;0.371;0.197;0.23	T	0.20806	-1.0264	10	0.18710	T	0.47	-32.1643	4.3061	0.10947	0.0:0.5299:0.0:0.4701	.	229;231;276;336;284;324;327	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	L	327;324;324;327;327;327;284;207;229;324;195;276;229;231	ENSP00000349677:R327L;ENSP00000350153:R324L;ENSP00000425570:R324L;ENSP00000420920:R327L;ENSP00000423421:R327L;ENSP00000423606:R327L;ENSP00000426716:R284L;ENSP00000444789:R207L;ENSP00000426318:R229L;ENSP00000425502:R324L;ENSP00000441396:R195L;ENSP00000411344:R276L;ENSP00000445430:R229L;ENSP00000438142:R231L	ENSP00000349677:R327L	R	-	2	0	SPOCK3	167899746	1.000000	0.71417	0.996000	0.52242	0.074000	0.17049	2.439000	0.44846	1.336000	0.45506	0.643000	0.83706	CGG		0.378	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			23	41	1	0	6.21321e-17	0.00278	1.2086e-16	23	41				
PALLD	23022	broad.mit.edu	37	4	169611826	169611826	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:169611826C>T	ENST00000505667.1	+	7	1581	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	PALLD_ENST00000512127.1_Silent_p.L88L|PALLD_ENST00000335742.7_Silent_p.L88L|PALLD_ENST00000261509.6_Silent_p.L470L|PALLD_ENST00000333488.4_Silent_p.L347L			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	470	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.L88L(1)|p.L470L(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGCACCCCCTCTGCAGGTCCA	0.527									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1408-1410)CTG>TTG		palladin isoform 2							85.0	97.0	93.0					4																	169611826		2203	4300	6503	SO:0001819	synonymous_variant	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169611826C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1408C>T	4.37:g.169611826C>T						PALLD_uc003iru.2_Silent_p.L470L|PALLD_uc003irv.2_Silent_p.L88L	p.L470L	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	7	1619	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	470			Ig-like C2-type 2.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	c.1408C>T	CCDS54818.1																																																																																				0.527	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		10	79	0	0	0	0.001368	0	10	79				
TRIML1	339976	broad.mit.edu	37	4	189060757	189060757	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:189060757C>A	ENST00000332517.3	+	1	185	c.45C>A	c.(43-45)acC>acA	p.T15T	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	15					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T15T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGAACTCACCTGTTTCATCT	0.507																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(43-45)ACC>ACA		tripartite motif family-like 1							155.0	150.0	151.0					4																	189060757		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060757C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.45C>A	4.37:g.189060757C>A							p.T15T	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	160	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	15					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.45C>A	CCDS3851.1																																																																																				0.507	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		9	112	1	0	3.86212e-05	0.008291	5.4165e-05	9	112				
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:189068316C>A	ENST00000332517.3	+	6	1337	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1195-1197)CAC>CAA		tripartite motif family-like 1							153.0	137.0	142.0					4																	189068316		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068316C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1197C>A	4.37:g.189068316C>A	ENSP00000327738:p.His399Gln					TRIML1_uc003izn.1_Missense_Mutation_p.H123Q	p.H399Q	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1312	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	399			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1197C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	8.758	0.922965	0.18056	.	.	ENSG00000184108	ENST00000332517	T	0.68181	-0.31	4.88	-1.95	0.07548	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.53938	D	0.000041	T	0.53738	0.1815	L	0.28608	0.87	0.09310	N	1	P	0.47910	0.902	P	0.47402	0.546	T	0.55379	-0.8150	10	0.29301	T	0.29	-24.5949	10.5415	0.45035	0.0:0.5936:0.0:0.4064	.	399	Q8N9V2	TRIML_HUMAN	Q	399	ENSP00000327738:H399Q	ENSP00000327738:H399Q	H	+	3	2	TRIML1	189305310	0.000000	0.05858	0.228000	0.23943	0.134000	0.20937	-1.618000	0.02049	-0.342000	0.08363	-0.413000	0.06143	CAC		0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		8	64	1	0	0.00307968	0.00308	0.00367105	8	64				
PLEKHG4B	153478	broad.mit.edu	37	5	163417	163417	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:163417A>G	ENST00000283426.6	+	11	2212	c.2162A>G	c.(2161-2163)aAg>aGg	p.K721R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	721							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K721R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CATCCCCAGAAGAAAATGATA	0.607																																							uc003jak.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2161-2163)AAG>AGG		pleckstrin homology domain containing, family G							65.0	80.0	74.0					5																	163417		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163417A>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2162A>G	5.37:g.163417A>G	ENSP00000283426:p.Lys721Arg						p.K721R	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2212	+			721						Missense_Mutation	SNP	ENST00000283426.6	37	c.2162A>G	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449919	0.26074	.	.	ENSG00000153404	ENST00000283426	T	0.33654	1.4	3.13	3.13	0.36017	.	.	.	.	.	T	0.19167	0.0460	L	0.27053	0.805	0.25581	N	0.986797	P	0.34864	0.473	B	0.24848	0.056	T	0.10660	-1.0620	9	0.13470	T	0.59	.	7.762	0.28957	1.0:0.0:0.0:0.0	.	721	Q96PX9	PKH4B_HUMAN	R	721	ENSP00000283426:K721R	ENSP00000283426:K721R	K	+	2	0	PLEKHG4B	216417	1.000000	0.71417	0.050000	0.19076	0.174000	0.22865	3.095000	0.50235	1.067000	0.40740	0.377000	0.23210	AAG		0.607	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		13	89	0	0	0	0.001368	0	13	89				
SDHA	6389	broad.mit.edu	37	5	240507	240507	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:240507G>T	ENST00000264932.6	+	11	1582	c.1467G>T	c.(1465-1467)ggG>ggT	p.G489G	SDHA_ENST00000504309.1_Silent_p.G489G|SDHA_ENST00000510361.1_Silent_p.G441G	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	489					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.G489G(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CAAACGCTGGGGAAGAATCTG	0.373									Familial Paragangliomas																														uc003jao.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1465-1467)GGG>GGT		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						25.0	29.0	28.0					5																	240507		2195	4291	6486	SO:0001819	synonymous_variant	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:240507G>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1467G>T	5.37:g.240507G>T						SDHA_uc011clv.1_Silent_p.G489G|SDHA_uc011clw.1_Silent_p.G441G|SDHA_uc003jap.3_Silent_p.G489G|SDHA_uc003jaq.3_Silent_p.G264G|SDHA_uc003jar.3_Silent_p.G83G	p.G489G	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		11	1582	+			489					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	c.1467G>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	9.497	1.102303	0.20632	.	.	ENSG00000073578	ENST00000515815	D	0.83755	-1.76	4.95	-0.204	0.13200	.	0.000000	0.85682	U	0.000000	T	0.80808	0.4694	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72818	-0.4178	7	0.46703	T	0.11	.	5.0377	0.14443	0.4405:0.1475:0.412:0.0	.	.	.	.	V	41	ENSP00000422404:G41V	ENSP00000422404:G41V	G	+	2	0	SDHA	293507	0.999000	0.42202	0.993000	0.49108	0.984000	0.73092	0.648000	0.24828	-0.278000	0.09180	-0.755000	0.03482	GGG		0.373	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		8	30	1	0	0.000157383	0.00308	0.000211083	8	30				
AHRR	57491	broad.mit.edu	37	5	434078	434078	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:434078G>T	ENST00000505113.1	+	11	1279	c.1235G>T	c.(1234-1236)aGt>aTt	p.S412I	AHRR_ENST00000512529.1_Missense_Mutation_p.S258I|AHRR_ENST00000506456.1_Missense_Mutation_p.S268I|AHRR_ENST00000316418.5_Missense_Mutation_p.S430I	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	412					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S426I(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGAAAGCACAGTGAGGATGGT	0.687																																							uc003jav.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1288-1290)AGT>ATT		arylhydrocarbon receptor repressor							34.0	47.0	42.0					5																	434078		2161	4237	6398	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434078G>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1235G>T	5.37:g.434078G>T	ENSP00000424601:p.Ser412Ile					AHRR_uc003jaw.2_Missense_Mutation_p.S408I|AHRR_uc010isy.2_Missense_Mutation_p.S258I|AHRR_uc010isz.2_Missense_Mutation_p.S408I|AHRR_uc003jax.2_Missense_Mutation_p.S171I|AHRR_uc003jay.2_Missense_Mutation_p.S268I|AHRR_uc003jaz.2_Missense_Mutation_p.S29I	p.S430I	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1333	+			412					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.1289G>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640447	0.29157	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.50277	2.17;2.17;1.86;1.85;0.75	4.49	1.26	0.21427	.	0.865245	0.10511	N	0.666211	T	0.37972	0.1023	L	0.38175	1.15	0.09310	N	1	B;B;P	0.36315	0.4;0.412;0.547	B;B;B	0.41088	0.181;0.188;0.347	T	0.33369	-0.9871	10	0.56958	D	0.05	.	3.9063	0.09183	0.1858:0.0:0.5878:0.2264	.	268;412;430	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	I	412;430;258;268;67	ENSP00000424601:S412I;ENSP00000323816:S430I;ENSP00000424880:S258I;ENSP00000426932:S268I;ENSP00000426076:S67I	ENSP00000323816:S430I	S	+	2	0	AHRR	487078	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.059000	0.14322	0.341000	0.23771	0.455000	0.32223	AGT		0.687	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		3	34	1	0	1.23904e-05	0.000602	1.80687e-05	3	34				
SLC6A19	340024	broad.mit.edu	37	5	1213663	1213663	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:1213663G>T	ENST00000304460.10	+	5	805	c.749G>T	c.(748-750)gGc>gTc	p.G250V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	250					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.G250V(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)			GCCACCAATGGCATCGTCTTC	0.662																																							uc003jbw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(748-750)GGC>GTC		solute carrier family 6, member 19							114.0	74.0	88.0					5																	1213663		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1213663G>T	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.749G>T	5.37:g.1213663G>T	ENSP00000305302:p.Gly250Val						p.G250V	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)		5	805	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		250			Extracellular (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.749G>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.019636	0.75275	.	.	ENSG00000174358	ENST00000304460	D	0.84800	-1.9	4.87	4.87	0.63330	.	0.099244	0.64402	N	0.000001	D	0.95557	0.8556	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97507	1.0064	10	0.87932	D	0	.	16.214	0.82191	0.0:0.0:1.0:0.0	.	250	Q695T7	S6A19_HUMAN	V	250	ENSP00000305302:G250V	ENSP00000305302:G250V	G	+	2	0	SLC6A19	1266663	1.000000	0.71417	0.842000	0.33263	0.829000	0.46940	9.202000	0.95026	2.263000	0.75096	0.466000	0.42574	GGC		0.662	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		7	26	1	0	0.000274275	0.004482	0.000355681	7	26				
ADAMTS16	170690	broad.mit.edu	37	5	5319161	5319161	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:5319161C>A	ENST00000274181.7	+	23	3723	c.3585C>A	c.(3583-3585)caC>caA	p.H1195Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1195	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H1195Q(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACTACTTCCACTGGTGCTACC	0.527																																							uc003jdl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(3583-3585)CAC>CAA		ADAM metallopeptidase with thrombospondin type 1							47.0	49.0	48.0					5																	5319161		2011	4175	6186	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5319161C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3585C>A	5.37:g.5319161C>A	ENSP00000274181:p.His1195Gln						p.H1195Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			23	3723	+			1195			PLAC.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3585C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	7.214	0.595958	0.13875	.	.	ENSG00000145536	ENST00000274181	T	0.41400	1.0	4.54	3.67	0.42095	PLAC (2);	0.494445	0.19656	N	0.109091	T	0.24661	0.0598	N	0.22421	0.69	0.32300	N	0.565185	B	0.25007	0.116	B	0.25614	0.062	T	0.25710	-1.0124	10	0.13470	T	0.59	.	7.5645	0.27870	0.0:0.8029:0.0:0.1971	.	1195	Q8TE57	ATS16_HUMAN	Q	1195	ENSP00000274181:H1195Q	ENSP00000274181:H1195Q	H	+	3	2	ADAMTS16	5372161	0.003000	0.15002	0.783000	0.31826	0.395000	0.30598	0.053000	0.14184	1.046000	0.40249	-0.356000	0.07607	CAC		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		4	16	1	0	2.56e-06	0.000248	3.89312e-06	4	16				
DNAH5	1767	broad.mit.edu	37	5	13824389	13824389	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:13824389T>C	ENST00000265104.4	-	39	6602	c.6498A>G	c.(6496-6498)ggA>ggG	p.G2166G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2166					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.G2166G(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)					TTTTTGCTGCTCCCAAGGTCC	0.418									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.(6496-6498)GGA>GGG		dynein, axonemal, heavy chain 5							127.0	115.0	119.0					5																	13824389		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.chr5:13824389T>C	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.6498A>G	5.37:g.13824389T>C							p.G2166G	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			39	6540	-	Lung NSC(4;0.00476)		2166					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.6498A>G	CCDS3882.1																																																																																				0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	46	0	0	0	0.001168	0	4	46				
DNAH5	1767	broad.mit.edu	37	5	13894882	13894882	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:13894882T>C	ENST00000265104.4	-	16	2412	c.2308A>G	c.(2308-2310)Att>Gtt	p.I770V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	770	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.I770V(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)					AATTGCTCAATGGCAGCAGGT	0.413									Kartagener syndrome																														uc003jfd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2308-2310)ATT>GTT		dynein, axonemal, heavy chain 5							182.0	170.0	174.0					5																	13894882		2203	4300	6503	SO:0001583	missense	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.chr5:13894882T>C	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.2308A>G	5.37:g.13894882T>C	ENSP00000265104:p.Ile770Val						p.I770V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			16	2350	-	Lung NSC(4;0.00476)		770			Potential.|Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2308A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.259007	0.00265	.	.	ENSG00000039139	ENST00000265104	T	0.54675	0.56	5.53	3.07	0.35406	Dynein heavy chain, domain-1 (1);	0.153841	0.64402	D	0.000016	T	0.22166	0.0534	N	0.11673	0.155	0.18873	N	0.999987	B	0.02656	0.0	B	0.06405	0.002	T	0.26538	-1.0100	10	0.02654	T	1	.	2.346	0.04271	0.1182:0.1413:0.3604:0.38	.	770	Q8TE73	DYH5_HUMAN	V	770	ENSP00000265104:I770V	ENSP00000265104:I770V	I	-	1	0	DNAH5	13947882	0.006000	0.16342	0.055000	0.19348	0.048000	0.14542	-0.402000	0.07223	0.367000	0.24454	-0.361000	0.07541	ATT		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		11	104	0	0	0	0.001855	0	11	104				
ZNF622	90441	broad.mit.edu	37	5	16458721	16458721	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:16458721T>A	ENST00000308683.2	-	4	1193	c.1067A>T	c.(1066-1068)cAc>cTc	p.H356L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	356					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H356L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCCTTCCTTGTGATCTGGATA	0.383																																							uc003jfq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1066-1068)CAC>CTC		zinc finger protein 622							103.0	100.0	101.0					5																	16458721		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16458721T>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1067A>T	5.37:g.16458721T>A	ENSP00000310042:p.His356Leu						p.H356L	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			4	1187	-			356						Missense_Mutation	SNP	ENST00000308683.2	37	c.1067A>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957206	0.34565	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.24	5.24	0.73138	.	0.379049	0.32444	N	0.006095	T	0.54319	0.1851	M	0.72894	2.215	0.33412	D	0.578795	B	0.21905	0.062	B	0.18871	0.023	T	0.60286	-0.7293	9	0.09084	T	0.74	-9.8111	15.1378	0.72583	0.0:0.0:0.0:1.0	.	356	Q969S3	ZN622_HUMAN	L	356	.	ENSP00000310042:H356L	H	-	2	0	ZNF622	16511721	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.263000	0.58853	1.975000	0.57531	0.528000	0.53228	CAC		0.383	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		3	43	0	0	0	0.000248	0	3	43				
BASP1	10409	broad.mit.edu	37	5	17275906	17275906	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:17275906G>T	ENST00000322611.3	+	2	841	c.581G>T	c.(580-582)aGt>aTt	p.S194I		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	194					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S194I(1)		endometrium(1)|lung(8)	9						GAAGCGCCTAGTTCCACACCC	0.647																																							uc003jfx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(580-582)AGT>ATT		brain abundant, membrane attached signal protein							13.0	19.0	17.0					5																	17275906		2190	4290	6480	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275906G>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.581G>T	5.37:g.17275906G>T	ENSP00000319281:p.Ser194Ile						p.S194I	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	760	+			194					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.581G>T	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143464	0.57044	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.58210	0.35	4.69	3.82	0.43975	.	0.230323	0.30126	U	0.010352	T	0.63295	0.2499	L	0.50333	1.59	0.53688	D	0.999971	D	0.62365	0.991	D	0.64877	0.93	T	0.64952	-0.6286	10	0.72032	D	0.01	0.2204	11.7217	0.51685	0.0874:0.0:0.9126:0.0	.	194	P80723	BASP1_HUMAN	I	194;140	ENSP00000319281:S194I	ENSP00000319281:S194I	S	+	2	0	BASP1	17328906	1.000000	0.71417	0.976000	0.42696	0.967000	0.64934	6.421000	0.73353	0.969000	0.38237	0.491000	0.48974	AGT		0.647	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			6	22	1	0	5.18039e-06	0.00308	7.8153e-06	6	22				
CDH12	1010	broad.mit.edu	37	5	21752217	21752217	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:21752217C>G	ENST00000382254.1	-	15	3100	c.2014G>C	c.(2014-2016)Gct>Cct	p.A672P	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.A632P|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.A672P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	672					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.A672P(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						ATGTCGAAAGCCTGGGTATCT	0.463										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2014-2016)GCT>CCT		cadherin 12, type 2 preproprotein							122.0	109.0	113.0					5																	21752217		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.chr5:21752217C>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.2014G>C	5.37:g.21752217C>G	ENSP00000371689:p.Ala672Pro	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.A632P|CDH12_uc003jgk.2_Missense_Mutation_p.A672P|uc003jgj.2_Intron	p.A672P	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2472	-			672			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2014G>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441652	0.83993	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.80738	-1.41;-1.41;-1.41	5.27	5.27	0.74061	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	H	0.96489	3.83	0.80722	D	1	D;D	0.76494	0.974;0.999	P;D	0.87578	0.903;0.998	D	0.95302	0.8404	10	0.87932	D	0	.	18.8936	0.92414	0.0:1.0:0.0:0.0	.	632;672	B7Z2U6;P55289	.;CAD12_HUMAN	P	672;672;632	ENSP00000423577:A672P;ENSP00000371689:A672P;ENSP00000428786:A632P	ENSP00000371689:A672P	A	-	1	0	CDH12	21787974	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.487000	0.81328	2.477000	0.83638	0.467000	0.42956	GCT		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		5	78	0	0	0	0.000602	0	5	78				
PRDM9	56979	broad.mit.edu	37	5	23509603	23509603	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:23509603T>A	ENST00000296682.3	+	3	276	c.94T>A	c.(94-96)Tcc>Acc	p.S32T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	32	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.S32T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAAAGACATTTCCATATACTT	0.413										HNSCC(3;0.000094)																													uc003jgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(94-96)TCC>ACC		PR domain containing 9							197.0	186.0	190.0					5																	23509603		1860	4115	5975	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509603T>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.94T>A	5.37:g.23509603T>A	ENSP00000296682:p.Ser32Thr	HNSCC(3;0.000094)					p.S32T	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			3	276	+			32			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.94T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.782148	0.49891	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.01599	4.74;4.74	2.76	1.48	0.22813	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.02970	0.0088	N	0.11927	0.2	0.21861	N	0.999501	D	0.57257	0.979	D	0.71414	0.973	T	0.50742	-0.8792	9	0.87932	D	0	-9.1868	5.585	0.17269	0.0:0.0:0.2867:0.7133	.	32	Q9NQV7	PRDM9_HUMAN	T	32	ENSP00000425471:S32T;ENSP00000296682:S32T	ENSP00000296682:S32T	S	+	1	0	PRDM9	23545360	0.127000	0.22367	0.985000	0.45067	0.895000	0.52256	2.130000	0.42064	0.412000	0.25729	0.496000	0.49642	TCC		0.413	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		30	112	0	0	0	0.007291	0	30	112				
CDH10	1008	broad.mit.edu	37	5	24487989	24487989	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:24487989C>A	ENST00000264463.4	-	12	2657	c.2150G>T	c.(2149-2151)aGg>aTg	p.R717M	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	717					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.R717M(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)		CTCTTTTAGCCTTTCATTAAT	0.458										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(2149-2151)AGG>ATG		cadherin 10, type 2 preproprotein							95.0	100.0	98.0					5																	24487989		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.chr5:24487989C>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.2150G>T	5.37:g.24487989C>A	ENSP00000264463:p.Arg717Met	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R717M	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2482	-			717			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2150G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320796	0.81469	.	.	ENSG00000040731	ENST00000264463	T	0.79653	-1.29	5.68	5.68	0.88126	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92685	0.7675	M	0.94021	3.485	0.53005	D	0.999969	D	0.89917	1.0	D	0.85130	0.997	D	0.94048	0.7315	10	0.87932	D	0	.	18.7805	0.91930	0.0:1.0:0.0:0.0	.	717	Q9Y6N8	CAD10_HUMAN	M	717	ENSP00000264463:R717M	ENSP00000264463:R717M	R	-	2	0	CDH10	24523746	1.000000	0.71417	0.881000	0.34555	0.989000	0.77384	5.810000	0.69179	2.693000	0.91896	0.655000	0.94253	AGG		0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	46	1	0	1.6384e-10	0.001984	2.95432e-10	7	46				
ADAMTS12	81792	broad.mit.edu	37	5	33527362	33527362	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:33527362G>C	ENST00000504830.1	-	24	5051	c.4716C>G	c.(4714-4716)ccC>ccG	p.P1572P	ADAMTS12_ENST00000352040.3_Silent_p.P1487P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1572	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1572P(4)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTGTGTCTGGGGACACGAGA	0.512										HNSCC(64;0.19)																													uc003jia.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4714-4716)CCC>CCG		ADAM metallopeptidase with thrombospondin type 1							265.0	236.0	246.0					5																	33527362		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33527362G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4716C>G	5.37:g.33527362G>C		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.P1487P	p.P1572P	NM_030955	NP_112217	P58397	ATS12_HUMAN			24	4879	-			1572			PLAC.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4716C>G	CCDS34140.1																																																																																				0.512	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		22	98	0	0	0	0.00333	0	22	98				
SLC45A2	51151	broad.mit.edu	37	5	33984644	33984644	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:33984644G>T	ENST00000296589.4	-	1	191	c.45C>A	c.(43-45)tcC>tcA	p.S15S	SLC45A2_ENST00000382102.3_Silent_p.S15S|SLC45A2_ENST00000345083.5_Silent_p.S15S|SLC45A2_ENST00000509381.1_Silent_p.S15S|SLC45A2_ENST00000342059.3_Silent_p.S15S	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	15					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.S15S(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						CATCAGCTAGGGATTTATAGA	0.582																																					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.(43-45)TCC>TCA		membrane-associated transporter protein isoform							55.0	56.0	55.0					5																	33984644		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984644G>T	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.45C>A	5.37:g.33984644G>T						SLC45A2_uc003jie.2_Silent_p.S15S|SLC45A2_uc003jif.3_Silent_p.S15S|SLC45A2_uc011coe.1_Silent_p.S15S	p.S15S	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			1	137	-			15			Cytoplasmic (Potential).		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.45C>A	CCDS3901.1																																																																																				0.582	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		6	36	1	0	2.0095e-06	0.001984	3.08069e-06	6	36				
SPEF2	79925	broad.mit.edu	37	5	35644577	35644577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:35644577G>T	ENST00000356031.3	+	4	689	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	SPEF2_ENST00000509059.1_Nonsense_Mutation_p.E179*|SPEF2_ENST00000282469.6_Nonsense_Mutation_p.E179*|SPEF2_ENST00000440995.2_Nonsense_Mutation_p.E179*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	179					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E179*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGAAACTTGAAAGATTTCA	0.308																																							uc003jjo.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(535-537)GAA>TAA		KPL2 protein isoform 1							39.0	40.0	40.0					5																	35644577		2200	4298	6498	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35644577G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.535G>T	5.37:g.35644577G>T	ENSP00000348314:p.Glu179*					SPEF2_uc003jjn.1_Nonsense_Mutation_p.E179*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.E179*	p.E179*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	646	+	all_lung(31;7.56e-05)		179					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.535G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873427	0.51695	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	.	.	.	5.43	2.57	0.30868	.	0.440276	0.21833	N	0.068452	.	.	.	.	.	.	0.47276	D	0.999378	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	10.501	0.44806	0.0849:0.4079:0.5072:0.0	.	.	.	.	X	179	.	ENSP00000282469:E179X	E	+	1	0	SPEF2	35680334	0.302000	0.24454	0.991000	0.47740	0.600000	0.36913	0.522000	0.22909	0.656000	0.30886	-0.182000	0.12963	GAA		0.308	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	18	1	0	6.4e-05	0.004672	8.8683e-05	3	18				
UGT3A2	167127	broad.mit.edu	37	5	36037999	36037999	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:36037999C>A	ENST00000282507.3	-	6	1296	c.1195G>T	c.(1195-1197)Gtc>Ttc	p.V399F	UGT3A2_ENST00000513300.1_Missense_Mutation_p.V365F|UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Missense_Mutation_p.V97F	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	399					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.V399F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTACTCGGACCATGTTTTCA	0.478																																							uc003jjz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1195-1197)GTC>TTC		UDP glycosyltransferase 3 family, polypeptide A2							136.0	134.0	135.0					5																	36037999		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36037999C>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1195G>T	5.37:g.36037999C>A	ENSP00000282507:p.Val399Phe					UGT3A2_uc011cos.1_Missense_Mutation_p.V365F|UGT3A2_uc011cot.1_Missense_Mutation_p.V97F	p.V399F	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1288	-	all_lung(31;0.000179)		399			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1195G>T	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	9.026	0.986133	0.18889	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.59906	0.23;0.23;0.23	3.32	-3.92	0.04155	.	0.094886	0.40640	U	0.001042	T	0.38719	0.1051	L	0.48218	1.51	0.09310	N	0.999999	B;B	0.10296	0.002;0.003	B;B	0.17979	0.02;0.014	T	0.14117	-1.0484	10	0.44086	T	0.13	.	2.3031	0.04167	0.1134:0.3341:0.3143:0.2382	.	365;399	E9PFK7;Q3SY77	.;UD3A2_HUMAN	F	399;365;97	ENSP00000282507:V399F;ENSP00000427404:V365F;ENSP00000445367:V97F	ENSP00000282507:V399F	V	-	1	0	UGT3A2	36073756	0.000000	0.05858	0.032000	0.17829	0.775000	0.43874	-2.828000	0.00745	-0.965000	0.03591	-0.244000	0.11960	GTC		0.478	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		12	86	1	0	0.000219431	0.00245	0.000293264	12	86				
SLC1A3	6507	broad.mit.edu	37	5	36608588	36608588	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:36608588A>T	ENST00000265113.4	+	2	539	c.63A>T	c.(61-63)ggA>ggT	p.G21G	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Silent_p.G21G	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	21					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.G21G(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)			TCCAGCAGGGAGTCCGTAAAC	0.448																																							uc003jkj.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(61-63)GGA>GGT		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						146.0	143.0	144.0					5																	36608588		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608588A>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.63A>T	5.37:g.36608588A>T						SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Silent_p.G21G	p.G21G	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	539	+	all_lung(31;0.000245)		21			Cytoplasmic (Potential).		B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.63A>T	CCDS3919.1																																																																																				0.448	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		17	66	0	0	0	0.00499	0	17	66				
FYB	2533	broad.mit.edu	37	5	39203004	39203004	+	Missense_Mutation	SNP	G	G	T	rs369879337		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:39203004G>T	ENST00000351578.6	-	2	249	c.59C>A	c.(58-60)cCc>cAc	p.P20H	FYB_ENST00000515010.1_Missense_Mutation_p.P20H|FYB_ENST00000512982.1_Missense_Mutation_p.P20H|FYB_ENST00000505428.1_Missense_Mutation_p.P20H|FYB_ENST00000540520.1_Missense_Mutation_p.P30H	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	20					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P20H(3)|p.P30H(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GACTCTGAAGGGTCGGCTATT	0.488																																							uc003jls.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(58-60)CCC>CAC		FYN binding protein (FYB-120/130) isoform 2							89.0	85.0	86.0					5																	39203004		1903	4123	6026	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39203004G>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.59C>A	5.37:g.39203004G>T	ENSP00000316460:p.Pro20His					FYB_uc003jlt.2_Missense_Mutation_p.P20H|FYB_uc003jlu.2_Missense_Mutation_p.P20H|FYB_uc011cpl.1_Missense_Mutation_p.P30H	p.P20H	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	126	-	all_lung(31;0.000343)		20					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.59C>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971378	0.53614	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542;ENST00000510188;ENST00000512138;ENST00000506557;ENST00000509072	T;T;T;T;T;T;T	0.53857	1.74;1.74;1.74;1.74;1.74;0.68;0.6	5.87	5.0	0.66597	.	0.119590	0.56097	D	0.000021	T	0.66066	0.2752	M	0.72118	2.19	0.34637	D	0.720235	D;D	0.89917	1.0;0.983	D;P	0.87578	0.998;0.671	T	0.75625	-0.3253	10	0.72032	D	0.01	-5.8226	4.5506	0.12110	0.1282:0.1281:0.6111:0.1326	.	30;20	B4DLN2;O15117	.;FYB_HUMAN	H	20;20;20;20;30;20;20;20;20;20	ENSP00000316460:P20H;ENSP00000426346:P20H;ENSP00000425845:P20H;ENSP00000427114:P20H;ENSP00000442840:P30H;ENSP00000426597:P20H;ENSP00000424919:P20H	ENSP00000316460:P20H	P	-	2	0	FYB	39238761	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	3.113000	0.50376	1.609000	0.50190	-0.175000	0.13238	CCC		0.488	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		11	55	1	0	3.86212e-05	0.008291	5.4165e-05	11	55				
SLC38A9	153129	broad.mit.edu	37	5	54960597	54960597	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:54960597C>A	ENST00000396865.2	-	8	1212	c.621G>T	c.(619-621)gtG>gtT	p.V207V	SLC38A9_ENST00000512595.1_Silent_p.V180V|SLC38A9_ENST00000515629.1_Silent_p.V144V|SLC38A9_ENST00000416547.2_Silent_p.V83V|SLC38A9_ENST00000539768.1_Silent_p.V207V|SLC38A9_ENST00000318672.3_Silent_p.V207V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	207					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.V207V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CAATGAGAGACACCAAGGAGA	0.373																																							uc003jqf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(619-621)GTG>GTT		solute carrier family 38, member 9							52.0	51.0	51.0					5																	54960597		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54960597C>A		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.621G>T	5.37:g.54960597C>A						SLC38A9_uc003jqd.2_Silent_p.V144V|SLC38A9_uc010ivx.2_Silent_p.V180V|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Silent_p.V78V	p.V207V	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			8	822	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	207			Helical; (Potential).		B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.621G>T	CCDS3968.1																																																																																				0.373	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		8	29	1	0	0.00307968	0.00308	0.00367105	8	29				
MAST4	375449	broad.mit.edu	37	5	66460666	66460666	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:66460666C>T	ENST00000403625.2	+	29	5954	c.5659C>T	c.(5659-5661)Cca>Tca	p.P1887S	MAST4_ENST00000405643.1_Missense_Mutation_p.P1708S|MAST4_ENST00000261569.7_Missense_Mutation_p.P1693S|MAST4_ENST00000403666.1_Missense_Mutation_p.P1698S|MAST4_ENST00000404260.3_Missense_Mutation_p.P1890S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1890						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.P1890S(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAGAATTCACCAGCAGTTTC	0.542																																							uc003jut.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(5092-5094)CCA>TCA		microtubule associated serine/threonine kinase							49.0	55.0	53.0					5																	66460666		1923	4118	6041	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460666C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5659C>T	5.37:g.66460666C>T	ENSP00000385727:p.Pro1887Ser					MAST4_uc003juw.2_Missense_Mutation_p.P1626S|MAST4_uc003jux.2_5'Flank	p.P1698S	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	5160	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1890					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.5092C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.619|5.619	0.298979|0.298979	0.10622|0.10622	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.67865|.	-0.26;-0.26;-0.29;-0.29;-0.26|.	4.91|4.91	3.14|3.14	0.36123|0.36123	.|.	0.920444|.	0.09202|.	N|.	0.834559|.	T|T	0.34424|0.34424	0.0897|0.0897	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B;B|.	0.17852|.	0.014;0.024|.	B;B|.	0.17098|.	0.008;0.017|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.26408|.	T|.	0.33|.	-0.6|-0.6	9.1817|9.1817	0.37146|0.37146	0.0:0.8341:0.0:0.1659|0.0:0.8341:0.0:0.1659	.|.	1890;1698|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	S|I	1890;1887;1698;1708;1708;1693|943	ENSP00000385048:P1890S;ENSP00000385727:P1887S;ENSP00000384313:P1698S;ENSP00000384099:P1708S;ENSP00000261569:P1693S|.	ENSP00000261569:P1693S|.	P|T	+|+	1|2	0|0	MAST4|MAST4	66496422|66496422	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.253000|0.253000	0.25986|0.25986	-0.130000|-0.130000	0.10498|0.10498	0.664000|0.664000	0.31047|0.31047	0.563000|0.563000	0.77884|0.77884	CCA|ACC		0.542	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			7	29	0	0	0	0.00308	0	7	29				
VCAN	1462	broad.mit.edu	37	5	82815784	82815784	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:82815784A>T	ENST00000265077.3	+	7	2224	c.1659A>T	c.(1657-1659)ggA>ggT	p.G553G	VCAN_ENST00000512590.2_Silent_p.G505G|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.G553G|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	553	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.G553G(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCACCTTGGGAGAAGAGGATG	0.413																																							uc003kii.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(1657-1659)GGA>GGT		versican isoform 1 precursor							159.0	152.0	155.0					5																	82815784		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815784A>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1659A>T	5.37:g.82815784A>T						VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.G553G|VCAN_uc003kik.3_Intron	p.G553G	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2015	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	553			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1659A>T	CCDS4060.1																																																																																				0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		7	83	0	0	0	0.001984	0	7	83				
APC	324	broad.mit.edu	37	5	112111325	112111325	+	Splice_Site	SNP	G	G	T	rs397514031		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:112111325G>T	ENST00000457016.1	+	5	802		c.e5-1		APC_ENST00000257430.4_Splice_Site|RNU6-482P_ENST00000391068.1_RNA|APC_ENST00000508376.2_Splice_Site			P25054	APC_HUMAN	adenomatous polyposis coli						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(3)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		aaaaaaaataGGTCATTGCTT	0.313		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		3	Unknown(3)	p.?(2)	lung(2)|large_intestine(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	GRCh37	CS011019|CS043350|CS992994	APC	S		c.e5-1		adenomatous polyposis coli							50.0	55.0	54.0					5																	112111325		2202	4287	6489	SO:0001630	splice_region_variant	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112111325G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.423-1G>T	5.37:g.112111325G>T		TSP Lung(16;0.13)				APC_uc011cvt.1_Splice_Site_p.R151_splice|APC_uc003kpz.3_Splice_Site_p.R141_splice|APC_uc003kpy.3_Splice_Site_p.R141_splice|APC_uc010jbz.2_Splice_Site	p.R141_splice	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	5	803	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)						D3DT03|Q15162|Q15163|Q93042	Splice_Site	SNP	ENST00000457016.1	37	c.423_splice	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136555	0.77662	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2779	0.94039	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APC	112139224	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.038000	0.93771	2.553000	0.86117	0.655000	0.94253	.		0.313	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	Intron	7	32	1	0	1.26484e-09	0.00308	2.23115e-09	7	32				
LVRN	206338	broad.mit.edu	37	5	115338596	115338596	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:115338596G>T	ENST00000357872.4	+	11	2009	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	AQPEP_ENST00000395528.2_Missense_Mutation_p.D146Y	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		629						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D629Y(1)									AGTCTGGCTAGATCAAAGCAG	0.294																																							uc003kro.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1885-1887)GAT>TAT		laeverin							41.0	41.0	41.0					5																	115338596		2201	4297	6498	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115338596G>T																												ENST00000357872.4:c.1885G>T	5.37:g.115338596G>T	ENSP00000350541:p.Asp629Tyr					AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.D629Y	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			11	2049	+			629			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.1885G>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593206	0.28357	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.34072	1.38;1.38	5.79	4.93	0.64822	.	1.550840	0.03703	N	0.248859	T	0.52597	0.1744	M	0.79805	2.47	0.45183	D	0.998199	P	0.52842	0.956	P	0.44732	0.459	T	0.48736	-0.9009	10	0.66056	D	0.02	.	13.5815	0.61905	0.0756:0.0:0.9244:0.0	.	629	Q6Q4G3	AMPQ_HUMAN	Y	146;629;618	ENSP00000378899:D146Y;ENSP00000350541:D629Y	ENSP00000350541:D629Y	D	+	1	0	AC010282.1	115366495	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	3.855000	0.55957	1.459000	0.47892	0.563000	0.77884	GAT		0.294	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			4	30	1	0	5.9392e-07	0.001168	9.42309e-07	4	30				
ZNF474	133923	broad.mit.edu	37	5	121487812	121487812	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:121487812C>A	ENST00000296600.4	+	2	510	c.127C>A	c.(127-129)Cca>Aca	p.P43T	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	43							metal ion binding (GO:0046872)	p.P43T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TAGCCTTTCCCCAGAAACAGA	0.388																																							uc003ksv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(127-129)CCA>ACA		zinc finger protein 474							95.0	102.0	100.0					5																	121487812		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121487812C>A	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.127C>A	5.37:g.121487812C>A	ENSP00000296600:p.Pro43Thr						p.P43T	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	503	+		all_cancers(142;0.229)|Prostate(80;0.0387)	43					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.127C>A	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	5.253	0.232208	0.09969	.	.	ENSG00000164185	ENST00000296600;ENST00000504912	T	0.43294	0.95	5.58	3.54	0.40534	.	1.479250	0.05120	U	0.490595	T	0.27629	0.0679	N	0.24115	0.695	0.09310	N	0.999998	B	0.29716	0.255	B	0.21360	0.034	T	0.18524	-1.0334	10	0.34782	T	0.22	-1.5958	4.8842	0.13696	0.1507:0.6012:0.1471:0.101	.	43	Q6S9Z5	ZN474_HUMAN	T	43	ENSP00000296600:P43T	ENSP00000296600:P43T	P	+	1	0	ZNF474	121515711	0.003000	0.15002	0.024000	0.17045	0.186000	0.23388	0.289000	0.18957	1.346000	0.45694	0.655000	0.94253	CCA		0.388	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		11	96	1	0	2.80697e-09	0.000978	4.92087e-09	11	96				
MEGF10	84466	broad.mit.edu	37	5	126667014	126667014	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:126667014T>G	ENST00000274473.6	+	3	281	c.14T>G	c.(13-15)tTg>tGg	p.L5W	MEGF10_ENST00000508365.1_Missense_Mutation_p.L5W|MEGF10_ENST00000503335.2_Missense_Mutation_p.L5W|MEGF10_ENST00000418761.2_Missense_Mutation_p.L5W	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	5	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.L5W(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTTATTTCTTTGAACTCATGC	0.368																																							uc003kuh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(13-15)TTG>TGG		multiple EGF-like-domains 10 precursor							111.0	110.0	110.0					5																	126667014		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126667014T>G	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.14T>G	5.37:g.126667014T>G	ENSP00000274473:p.Leu5Trp					MEGF10_uc010jdc.1_Missense_Mutation_p.L5W|MEGF10_uc010jdd.1_Missense_Mutation_p.L5W|MEGF10_uc003kui.3_Missense_Mutation_p.L5W	p.L5W	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	3	376	+		Prostate(80;0.165)	5			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.14T>G	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659483	0.47467	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	D;D;D;D	0.84660	-1.55;-1.88;-1.88;-1.55	5.3	-1.28	0.09318	.	0.645156	0.13638	N	0.373154	T	0.74981	0.3788	L	0.36672	1.1	0.23776	N	0.99687	P;P	0.51653	0.599;0.947	B;B	0.39562	0.303;0.243	T	0.66964	-0.5790	10	0.72032	D	0.01	0.9723	10.0312	0.42101	0.0:0.3246:0.0:0.6754	.	5;5	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	W	5	ENSP00000423354:L5W;ENSP00000423195:L5W;ENSP00000416284:L5W;ENSP00000274473:L5W	ENSP00000274473:L5W	L	+	2	0	MEGF10	126694913	0.959000	0.32827	0.893000	0.35052	0.865000	0.49528	0.348000	0.20031	-0.356000	0.08187	0.533000	0.62120	TTG		0.368	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		8	46	0	0	0	0.00308	0	8	46				
HINT1	3094	broad.mit.edu	37	5	130500840	130500840	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:130500840C>T	ENST00000304043.5	-	1	338	c.59G>A	c.(58-60)gGg>gAg	p.G20E	HINT1_ENST00000508488.1_Missense_Mutation_p.G20E|HINT1_ENST00000506207.1_Intron|HINT1_ENST00000506908.1_Missense_Mutation_p.G20E|HINT1_ENST00000513012.1_Missense_Mutation_p.G20E	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	20	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|purine ribonucleotide catabolic process (GO:0009154)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|protein kinase C binding (GO:0005080)	p.G20E(1)		endometrium(1)|large_intestine(1)|lung(3)	5		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)	GATGATCTTCCCAAAGATCGT	0.597																																							uc003kve.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GGG>GAG		histidine triad nucleotide binding protein 1	Adenosine monophosphate(DB00131)						86.0	76.0	79.0					5																	130500840		2203	4300	6503	SO:0001583	missense	3094				signal transduction	cytoplasm|cytoskeleton|nucleus	hydrolase activity|protein kinase C binding	g.chr5:130500840C>T	BC007090	CCDS4147.1	5q31.2	2010-03-30	2001-11-28	2002-03-08	ENSG00000169567	ENSG00000169567			4912	protein-coding gene	gene with protein product		601314	"""histidine triad nucleotide-binding protein"""	PRKCNH1, HINT		8812426	Standard	NM_005340		Approved	PKCI-1	uc003kve.4	P49773	OTTHUMG00000128995	ENST00000304043.5:c.59G>A	5.37:g.130500840C>T	ENSP00000304229:p.Gly20Glu					HINT1_uc011cxd.1_RNA|HINT1_uc003kvf.3_RNA	p.G20E	NM_005340	NP_005331	P49773	HINT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	195	-		all_cancers(142;0.0452)|Breast(839;0.198)	20			HIT.		Q9H5W8	Missense_Mutation	SNP	ENST00000304043.5	37	c.59G>A	CCDS4147.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133969	0.56828	.	.	ENSG00000169567	ENST00000304043;ENST00000508488;ENST00000506908;ENST00000513012	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	3.7	0.94	0.19513	Histidine triad motif (1);Histidine triad-like motif (1);	0.106857	0.64402	N	0.000005	T	0.60919	0.2306	L	0.46741	1.465	0.80722	D	1	B	0.15930	0.015	B	0.23018	0.043	T	0.43376	-0.9395	10	0.13108	T	0.6	-10.0381	7.5727	0.27918	0.0:0.6954:0.0:0.3046	.	20	P49773	HINT1_HUMAN	E	20	ENSP00000304229:G20E;ENSP00000427499:G20E;ENSP00000426860:G20E;ENSP00000422444:G20E	ENSP00000304229:G20E	G	-	2	0	HINT1	130528739	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	3.907000	0.56348	0.183000	0.20059	0.655000	0.94253	GGG		0.597	HINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250984.1	NM_005340		3	46	0	0	0	0.000248	0	3	46				
NRG2	9542	broad.mit.edu	37	5	139231259	139231259	+	Silent	SNP	G	G	T	rs141346193		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:139231259G>T	ENST00000361474.1	-	9	1926	c.1702C>A	c.(1702-1704)Cgg>Agg	p.R568R	NRG2_ENST00000340391.3_Silent_p.R365R|NRG2_ENST00000289422.7_Silent_p.R576R|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289409.4_Silent_p.R562R|NRG2_ENST00000545385.1_Silent_p.R570R|NRG2_ENST00000541337.1_Silent_p.R502R|NRG2_ENST00000358522.3_Silent_p.R570R	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	568					embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.R568R(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGCGCCGCTCCTCCAGG	0.637																																							uc003lex.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|skin(1)	6						c.(1702-1704)CGG>AGG		neuregulin 2 isoform 1							62.0	59.0	60.0					5																	139231259		2203	4299	6502	SO:0001819	synonymous_variant	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139231259G>T		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1702C>A	5.37:g.139231259G>T						NRG2_uc003lev.1_Silent_p.R576R|NRG2_uc003lew.1_Silent_p.R570R|NRG2_uc003ley.1_Silent_p.R562R	p.R568R	NM_004883	NP_004874	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1927	-			568			Cytoplasmic (Potential).			Silent	SNP	ENST00000361474.1	37	c.1702C>A	CCDS4217.1																																																																																				0.637	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		11	40	1	0	3.86212e-05	0.008291	5.4165e-05	11	40				
PCDHA6	56142	broad.mit.edu	37	5	140209049	140209049	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140209049C>A	ENST00000529310.1	+	1	1487	c.1373C>A	c.(1372-1374)cCc>cAc	p.P458H	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P458H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	458	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.P458H(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGCGCAGCCCGAGTACACA	0.662																																							uc003lho.2		NA																	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1372-1374)CCC>CAC		protocadherin alpha 6 isoform 1 precursor							50.0	57.0	54.0					5																	140209049		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209049C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1373C>A	5.37:g.140209049C>A	ENSP00000433378:p.Pro458His					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_Missense_Mutation_p.P458H|PCDHA6_uc011dab.1_Missense_Mutation_p.P458H	p.P458H	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1400	+			458			Cadherin 5.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1373C>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010409	0.19277	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.61274	0.12;0.12	3.72	3.72	0.42706	Cadherin (3);Cadherin-like (1);	0.000000	0.36591	U	0.002506	T	0.73674	0.3617	M	0.82193	2.58	0.09310	N	1	P;D;D	0.71674	0.925;0.985;0.998	P;D;D	0.63488	0.906;0.915;0.909	T	0.66337	-0.5949	10	0.87932	D	0	.	11.9946	0.53194	0.0:0.8248:0.1752:0.0	.	458;458;458	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	H	458	ENSP00000433378:P458H;ENSP00000434113:P458H	ENSP00000434113:P458H	P	+	2	0	PCDHA6	140189233	0.000000	0.05858	0.950000	0.38849	0.011000	0.07611	0.504000	0.22626	2.061000	0.61500	0.313000	0.20887	CCC		0.662	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		10	45	1	0	9.70103e-10	0.008291	1.72463e-09	10	45				
PCDHA9	9752	broad.mit.edu	37	5	140229634	140229634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140229634C>A	ENST00000532602.1	+	1	2587	c.1554C>A	c.(1552-1554)taC>taA	p.Y518*	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.Y518*	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	518	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.Y518*(2)|p.Y518Y(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTGTACGCGCTGCAGC	0.687																																					Melanoma(55;1800 1972 14909)	Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	4	Substitution - Nonsense(2)|Substitution - coding silent(2)		lung(4)	large_intestine(2)|ovary(2)|skin(1)	5						c.(1552-1554)TAC>TAA		protocadherin alpha 9 isoform 1 precursor							57.0	65.0	62.0					5																	140229634		2196	4263	6459	SO:0001587	stop_gained	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229634C>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1554C>A	5.37:g.140229634C>A	ENSP00000436042:p.Tyr518*					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_uc003lht.1_Nonsense_Mutation_p.Y518*	p.Y518*	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2278	+			518			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Nonsense_Mutation	SNP	ENST00000532602.1	37	c.1554C>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	43	10.167777	0.99351	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.56	3.56	0.40772	.	0.312207	0.17215	U	0.182553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6123	0.12408	0.0:0.6967:0.0:0.3033	.	.	.	.	X	518	.	ENSP00000367362:Y518X	Y	+	3	2	PCDHA9	140209818	0.000000	0.05858	1.000000	0.80357	0.945000	0.59286	-1.328000	0.02680	1.973000	0.57446	0.306000	0.20318	TAC		0.687	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		14	71	1	0	9.31168e-06	0.001855	1.39368e-05	14	71				
PCDHA13	56136	broad.mit.edu	37	5	140263618	140263618	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140263618C>T	ENST00000289272.2	+	1	1765	c.1765C>T	c.(1765-1767)Cac>Tac	p.H589Y	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.H589Y|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	589	Cadherin 6. {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.H589Y(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGCAGGCCACGTGGTGGC	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1765-1767)CAC>TAC		protocadherin alpha 13 isoform 1 precursor							59.0	65.0	63.0					5																	140263618		2202	4298	6500	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263618C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1765C>T	5.37:g.140263618C>T	ENSP00000289272:p.His589Tyr					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_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.H589Y|PCDHA13_uc003lid.2_Missense_Mutation_p.H589Y	p.H589Y	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1765	+			589			Cadherin 6.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1765C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.823703	0.00589	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51325	0.71;0.71	4.21	4.21	0.49690	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.29524	0.0736	N	0.17345	0.48	0.22933	N	0.998542	B;B;B	0.20164	0.029;0.01;0.042	B;B;B	0.28011	0.033;0.057;0.085	T	0.16958	-1.0385	9	0.02654	T	1	.	11.3887	0.49800	0.0:0.9089:0.0:0.0911	.	589;589;589	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	Y	589	ENSP00000386821:H589Y;ENSP00000289272:H589Y	ENSP00000289272:H589Y	H	+	1	0	PCDHA13	140243802	0.000000	0.05858	1.000000	0.80357	0.204000	0.24138	-0.298000	0.08265	2.144000	0.66660	0.655000	0.94253	CAC		0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		4	48	0	0	0	0.000248	0	4	48				
PCDHB3	56132	broad.mit.edu	37	5	140482259	140482259	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140482259G>T	ENST00000231130.2	+	1	2026	c.2026G>T	c.(2026-2028)Gcg>Tcg	p.A676S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	676					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.A676S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCCCGGAGGCGGCACCGGC	0.667																																							uc003lio.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2026-2028)GCG>TCG		protocadherin beta 3 precursor							63.0	69.0	67.0					5																	140482259		2142	4204	6346	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482259G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2026G>T	5.37:g.140482259G>T	ENSP00000231130:p.Ala676Ser					uc003lin.2_5'Flank	p.A676S	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2026	+			676			Extracellular (Potential).		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2026G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103442	0.37145	.	.	ENSG00000113205	ENST00000231130	T	0.50277	0.75	4.29	3.39	0.38822	.	.	.	.	.	T	0.55016	0.1894	M	0.81497	2.545	0.09310	N	1	P	0.34892	0.474	B	0.40864	0.342	T	0.52079	-0.8623	9	0.48119	T	0.1	.	11.547	0.50698	0.0903:0.0:0.9097:0.0	.	676	Q9Y5E6	PCDB3_HUMAN	S	676	ENSP00000231130:A676S	ENSP00000231130:A676S	A	+	1	0	PCDHB3	140462443	0.377000	0.25106	0.027000	0.17364	0.607000	0.37147	2.278000	0.43426	2.095000	0.63458	0.485000	0.47835	GCG		0.667	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		9	116	1	0	3.86212e-05	0.008291	5.4165e-05	9	116				
PCDHB8	56128	broad.mit.edu	37	5	140559505	140559505	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140559505G>A	ENST00000239444.2	+	1	2135	c.1890G>A	c.(1888-1890)ctG>ctA	p.L630L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	630	Cadherin 6. {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.L630L(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCCAGGCTGCTGAGCGAGC	0.697																																							uc011dai.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)	4						c.(1888-1890)CTG>CTA		protocadherin beta 8 precursor							19.0	22.0	21.0					5																	140559505		1979	3961	5940	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559505G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1890G>A	5.37:g.140559505G>A						PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.L630L	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2076	+			630			Cadherin 6.|Extracellular (Potential).		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.1890G>A	CCDS4250.1																																																																																				0.697	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		9	51	0	0	0	0.006214	0	9	51				
PCDHB11	56125	broad.mit.edu	37	5	140580808	140580808	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140580808C>G	ENST00000354757.3	+	1	1461	c.1461C>G	c.(1459-1461)aaC>aaG	p.N487K	PCDHB11_ENST00000536699.1_Missense_Mutation_p.N122K	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N487K(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)			CCCAGGTCAACTACTCGCTAC	0.637																																							uc003liy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1459-1461)AAC>AAG		protocadherin beta 11 precursor							138.0	136.0	136.0					5																	140580808		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.chr5:140580808C>G	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.1461C>G	5.37:g.140580808C>G	ENSP00000346802:p.Asn487Lys					PCDHB11_uc011daj.1_Missense_Mutation_p.N122K	p.N487K	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1461	+			487			Extracellular (Potential).|Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1461C>G	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	10.55	1.382798	0.25031	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01685	4.69;4.69	2.51	1.62	0.23740	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01489	0.0048	N	0.02169	-0.655	0.20975	N	0.999818	B	0.24317	0.101	B	0.42112	0.376	T	0.51857	-0.8652	9	0.87932	D	0	.	6.4663	0.21983	0.0:0.7556:0.0:0.2444	.	487	Q9Y5F2	PCDBB_HUMAN	K	122;487	ENSP00000440344:N122K;ENSP00000346802:N487K	ENSP00000346802:N487K	N	+	3	2	PCDHB11	140560992	0.000000	0.05858	0.862000	0.33874	0.063000	0.16089	-1.412000	0.02476	0.386000	0.24997	0.298000	0.19748	AAC		0.637	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		10	77	0	0	0	0.006214	0	10	77				
PCDHB11	56125	broad.mit.edu	37	5	140581670	140581670	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140581670C>A	ENST00000354757.3	+	1	2323	c.2323C>A	c.(2323-2325)Cag>Aag	p.Q775K	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q410K	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	775					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.Q775K(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)			CCCTAATATCCAGGCAAAAGG	0.418																																							uc003liy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2323-2325)CAG>AAG		protocadherin beta 11 precursor							77.0	88.0	84.0					5																	140581670		2203	4299	6502	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581670C>A	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.2323C>A	5.37:g.140581670C>A	ENSP00000346802:p.Gln775Lys					PCDHB11_uc011daj.1_Missense_Mutation_p.Q410K	p.Q775K	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2323	+			775			Cytoplasmic (Potential).		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.2323C>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	4.976	0.181222	0.09495	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.13778	2.56;2.56	2.6	-0.597	0.11653	.	.	.	.	.	T	0.13286	0.0322	M	0.69823	2.125	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33266	-0.9875	9	0.28530	T	0.3	.	4.4459	0.11597	0.1805:0.5786:0.0:0.241	.	775	Q9Y5F2	PCDBB_HUMAN	K	410;775	ENSP00000440344:Q410K;ENSP00000346802:Q775K	ENSP00000346802:Q775K	Q	+	1	0	PCDHB11	140561854	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.713000	0.05007	-0.018000	0.14079	0.556000	0.70494	CAG		0.418	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		7	47	1	0	8.12818e-05	0.001984	0.000110582	7	47				
PCDHGA1	56114	broad.mit.edu	37	5	140711649	140711649	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140711649C>T	ENST00000517417.1	+	1	1398	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.P466P	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	466	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.P466P(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACAACCCCAGAGGAGCCT	0.488																																							uc003lji.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(1396-1398)CCC>CCT		protocadherin gamma subfamily A, 1 isoform 1							112.0	122.0	118.0					5																	140711649		2203	4300	6503	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711649C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1398C>T	5.37:g.140711649C>T						PCDHGA1_uc011dan.1_Silent_p.P466P	p.P466P	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1398	+			466			Extracellular (Potential).|Cadherin 5.		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1398C>T	CCDS54922.1																																																																																				0.488	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		5	71	0	0	0	0.001168	0	5	71				
PCDHGA4	56111	broad.mit.edu	37	5	140736259	140736260	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140736259_140736260GG>CT	ENST00000571252.1	+	1	1492_1493	c.1492_1493GG>CT	c.(1492-1494)GGt>CTt	p.G498L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	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)			CACCTTCCAGGGTGCACCTCTG	0.52																																							uc003ljq.1		NA																	0					0						c.(1492-1494)GGT>CTT		protocadherin gamma subfamily A, 4 isoform 1																																				SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736259_140736260GG>CT	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		Exception_encountered	5.37:g.140736259_140736260delinsCT	ENSP00000458570:p.Gly498Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.G498L	p.G498L	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1492_1493	+			498			Extracellular (Potential).|Cadherin 5.		Q9Y5D3	Missense_Mutation	DNP	ENST00000571252.1	37	c.1492_1493GG>CT	CCDS58979.1																																																																																				0.520	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		14	89	0	0	0	0.004672	0	14	89				
PCDHGA5	56110	broad.mit.edu	37	5	140744467	140744467	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140744467G>T	ENST00000518069.1	+	1	570	c.570G>T	c.(568-570)aaG>aaT	p.K190N	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	190	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.K190N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGACAAAAGTATCCGGAGC	0.562																																							uc003lju.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(568-570)AAG>AAT		protocadherin gamma subfamily A, 5 isoform 1							61.0	63.0	62.0					5																	140744467		2013	4178	6191	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744467G>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.570G>T	5.37:g.140744467G>T	ENSP00000429834:p.Lys190Asn					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_uc011das.1_Missense_Mutation_p.K190N	p.K190N	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	570	+			190			Extracellular (Potential).|Cadherin 2.		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.570G>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.828912	0.32329	.	.	ENSG00000253485	ENST00000518069	T	0.19394	2.15	5.52	-1.85	0.07784	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18130	0.0435	L	0.54965	1.715	0.09310	N	1	B;P	0.35793	0.169;0.521	B;B	0.37387	0.225;0.248	T	0.20140	-1.0284	9	0.72032	D	0.01	.	4.0919	0.09973	0.4724:0.0:0.2612:0.2664	.	190;190	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	N	190	ENSP00000429834:K190N	ENSP00000429834:K190N	K	+	3	2	PCDHGA5	140724651	0.000000	0.05858	0.850000	0.33497	0.905000	0.53344	-0.927000	0.03984	-0.624000	0.05611	0.563000	0.77884	AAG		0.562	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		6	31	1	0	3.59834e-05	0.001168	5.08422e-05	6	31				
PCDHGA8	9708	broad.mit.edu	37	5	140774114	140774114	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140774114G>T	ENST00000398604.2	+	1	1734	c.1734G>T	c.(1732-1734)gcG>gcT	p.A578A	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	578	Cadherin 6. {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.A578A(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCGCTCCG	0.657																																							uc003lkd.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1732-1734)GCG>GCT		protocadherin gamma subfamily A, 8 isoform 1							78.0	91.0	86.0					5																	140774114		2202	4300	6502	SO:0001819	synonymous_variant	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774114G>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1734G>T	5.37:g.140774114G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.A578A	p.A578A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2632	+			578			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1734G>T	CCDS47291.1																																																																																				0.657	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		17	80	1	0	2.48551e-13	0.00499	4.72954e-13	17	80				
FBXO38	81545	broad.mit.edu	37	5	147806775	147806775	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:147806775G>C	ENST00000340253.5	+	15	2086		c.e15-1		FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000394370.3_Splice_Site|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38						cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(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)			TCTATAAGCAGTAAGTGGAAA	0.423																																							uc003lpf.1		NA																	1	Unknown(1)		lung(1)	ovary(4)|skin(2)	6						c.e15-1		F-box protein 38 isoform b							41.0	41.0	41.0					5																	147806775		2203	4300	6503	SO:0001630	splice_region_variant	81545					cytoplasm|nucleus		g.chr5:147806775G>C	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.1919-1G>C	5.37:g.147806775G>C						FBXO38_uc003lpg.1_Splice_Site_p.V640_splice|FBXO38_uc003lph.2_Intron	p.V640_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2039	+								Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Splice_Site	SNP	ENST00000340253.5	37	c.1919_splice		.	.	.	.	.	.	.	.	.	.	G	15.50	2.853377	0.51270	.	.	ENSG00000145868	ENST00000340253;ENST00000394370	.	.	.	5.99	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4159	0.67151	0.0724:0.0:0.9276:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO38	147786968	.	.	1.000000	0.80357	0.992000	0.81027	.	.	2.840000	0.97914	0.655000	0.94253	.		0.423	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	Intron	4	24	0	0	0	0.000248	0	4	24				
HAVCR1	26762	broad.mit.edu	37	5	156479626	156479626	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:156479626G>A	ENST00000339252.3	-	3	951	c.419C>T	c.(418-420)aCc>aTc	p.T140I	HAVCR1_ENST00000544197.1_Missense_Mutation_p.T140I|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T140I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T140I|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T140I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.T140I(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTCGTGACGGTTGGAACAGT	0.473																																							uc010jij.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(418-420)ACC>ATC		hepatitis A virus cellular receptor 1							398.0	396.0	397.0					5																	156479626		2142	4256	6398	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479626G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.419C>T	5.37:g.156479626G>A	ENSP00000344844:p.Thr140Ile					HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Missense_Mutation_p.T140I|HAVCR1_uc011ddm.1_Missense_Mutation_p.T140I	p.T140I	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	604	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	140			Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.|1.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.419C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	6.786	0.513977	0.12944	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.18810	2.22;2.24;2.24;2.22;2.24;2.19	1.57	-1.02	0.10135	.	.	.	.	.	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	D;D	0.54964	0.969;0.969	B;B	0.37989	0.262;0.262	T	0.23583	-1.0184	9	0.46703	T	0.11	.	4.723	0.12927	0.0:0.4425:0.3315:0.2259	.	140;140	F1CME6;Q96D42	.;HAVR1_HUMAN	I	140	ENSP00000428524:T140I;ENSP00000427898:T140I;ENSP00000344844:T140I;ENSP00000403333:T140I;ENSP00000440258:T140I;ENSP00000428422:T140I	ENSP00000344844:T140I	T	-	2	0	HAVCR1	156412204	0.927000	0.31430	0.000000	0.03702	0.014000	0.08584	0.910000	0.28571	-0.539000	0.06273	0.196000	0.17591	ACC		0.473	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			10	164	0	0	0	0.000978	0	10	164				
ITK	3702	broad.mit.edu	37	5	156608057	156608057	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:156608057C>T	ENST00000422843.3	+	1	221	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	23	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		P -> L (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P23P(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GAACTTCTCCCTCGAACTTTA	0.433			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1		NA		Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		1	Substitution - coding silent(1)	p.P23L(1)	lung(1)	lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.(67-69)CCC>CCT		IL2-inducible T-cell kinase							116.0	108.0	111.0					5																	156608057		2203	4300	6503	SO:0001819	synonymous_variant	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156608057C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.69C>T	5.37:g.156608057C>T							p.P23P	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	151	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	23		P -> L (in a metastatic melanoma sample; somatic mutation).	PH.		B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	c.69C>T	CCDS4336.1																																																																																				0.433	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			8	101	0	0	0	0.004482	0	8	101				
ADAM19	8728	broad.mit.edu	37	5	156915444	156915444	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:156915444G>T	ENST00000517905.1	-	21	2423	c.2379C>A	c.(2377-2379)ccC>ccA	p.P793P	ADAM19_ENST00000257527.4_Silent_p.P793P|ADAM19_ENST00000394020.1_Silent_p.P795P|ADAM19_ENST00000430702.2_Silent_p.P526P			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	793					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P793P(1)|p.P794P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCTGGAGGGGGCCGGGGAG	0.602																																							uc003lwz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2377-2379)CCC>CCA		ADAM metallopeptidase domain 19 preproprotein							33.0	37.0	36.0					5																	156915444		2201	4297	6498	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915444G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2379C>A	5.37:g.156915444G>T						ADAM19_uc003lww.1_Silent_p.P526P|ADAM19_uc003lwy.2_Silent_p.P392P|ADAM19_uc011ddr.1_Silent_p.P724P	p.P793P	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2443	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	793			Cytoplasmic (Potential).		Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.2379C>A		.	.	.	.	.	.	.	.	.	.	G	1.641	-0.516591	0.04200	.	.	ENSG00000135074	ENST00000517374	T	0.03772	3.81	5.58	1.05	0.20165	.	0.000000	0.64402	D	0.000004	T	0.08044	0.0201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17137	-1.0379	7	0.52906	T	0.07	.	4.9799	0.14160	0.2804:0.0:0.5718:0.1478	.	.	.	.	H	364	ENSP00000431027:P364H	ENSP00000431027:P364H	P	-	2	0	ADAM19	156848022	0.957000	0.32711	1.000000	0.80357	0.057000	0.15508	-0.227000	0.09126	0.729000	0.32403	0.491000	0.48974	CCC		0.602	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		6	32	1	0	0.00198382	0.001984	0.00238984	6	32				
ADAM19	8728	broad.mit.edu	37	5	156997941	156997941	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:156997941G>A	ENST00000517905.1	-	2	186	c.142C>T	c.(142-144)Cct>Tct	p.P48S	ADAM19_ENST00000257527.4_Missense_Mutation_p.P48S|AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000394020.1_Missense_Mutation_p.P50S|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	48					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P49S(1)|p.P48S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCACTGAGGTATGATAAGT	0.483																																							uc003lwz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(142-144)CCT>TCT		ADAM metallopeptidase domain 19 preproprotein							133.0	129.0	130.0					5																	156997941		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156997941G>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.142C>T	5.37:g.156997941G>A	ENSP00000428654:p.Pro48Ser					ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_5'UTR	p.P48S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	206	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	48					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.142C>T		.	.	.	.	.	.	.	.	.	.	G	16.09	3.024873	0.54683	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.14144	2.53;2.53;2.53	5.03	5.03	0.67393	.	0.116358	0.39083	N	0.001462	T	0.21387	0.0515	M	0.76328	2.33	0.43564	D	0.995885	P	0.51537	0.946	P	0.46253	0.509	T	0.04781	-1.0927	10	0.17832	T	0.49	.	14.2179	0.65805	0.0:0.0:1.0:0.0	.	48	Q9H013-2	.	S	48;50;48	ENSP00000257527:P48S;ENSP00000377588:P50S;ENSP00000428654:P48S	ENSP00000257527:P48S	P	-	1	0	ADAM19	156930519	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.438000	0.59961	2.485000	0.83878	0.655000	0.94253	CCT		0.483	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		7	38	0	0	0	0.00308	0	7	38				
GABRA1	2554	broad.mit.edu	37	5	161324315	161324315	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:161324315G>T	ENST00000428797.2	+	11	1613	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	GABRA1_ENST00000444819.1_Missense_Mutation_p.D420Y|GABRA1_ENST00000393943.4_Missense_Mutation_p.D420Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D420Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D420Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D420Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	420					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D420Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	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;0.228)	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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAGCAAAATTGACCGACTGTC	0.443																																							uc010jiw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1258-1260)GAC>TAC		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						149.0	149.0	149.0					5																	161324315		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324315G>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1258G>T	5.37:g.161324315G>T	ENSP00000393097:p.Asp420Tyr					GABRA1_uc010jix.2_Missense_Mutation_p.D420Y|GABRA1_uc010jiy.2_Missense_Mutation_p.D420Y|GABRA1_uc003lyx.3_Missense_Mutation_p.D420Y|GABRA1_uc010jiz.2_Missense_Mutation_p.D420Y|GABRA1_uc010jja.2_Missense_Mutation_p.D420Y|GABRA1_uc010jjb.2_Missense_Mutation_p.D420Y	p.D420Y	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1726	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	420			Cytoplasmic (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1258G>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581305	0.86748	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049362	0.85682	D	0.000000	D	0.99130	0.9700	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99589	1.0975	10	0.87932	D	0	.	19.3564	0.94416	0.0:0.0:1.0:0.0	.	420	P14867	GBRA1_HUMAN	Y	420	ENSP00000023897:D420Y;ENSP00000393097:D420Y;ENSP00000377517:D420Y;ENSP00000415441:D420Y;ENSP00000408041:D420Y;ENSP00000414232:D420Y	ENSP00000023897:D420Y	D	+	1	0	GABRA1	161256893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.695000	0.98691	2.642000	0.89623	0.563000	0.77884	GAC		0.443	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		6	78	1	0	0.00198382	0.001984	0.00238984	6	78				
SLIT3	6586	broad.mit.edu	37	5	168114017	168114017	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:168114017T>A	ENST00000519560.1	-	30	3700	c.3281A>T	c.(3280-3282)aAt>aTt	p.N1094I	SLIT3_ENST00000332966.8_Missense_Mutation_p.N1101I|SLIT3_ENST00000404867.3_Missense_Mutation_p.N1094I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1094	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.N1094I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGTAGCCATTGATTGTGTC	0.632																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3280-3282)AAT>ATT		slit homolog 3 precursor							76.0	70.0	72.0					5																	168114017		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168114017T>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3281A>T	5.37:g.168114017T>A	ENSP00000430333:p.Asn1094Ile					SLIT3_uc010jjg.2_Missense_Mutation_p.N1101I	p.N1094I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3701	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1094			EGF-like 5.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3281A>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526669	0.44969	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91686	-2.89;-2.89;-2.89	4.59	4.59	0.56863	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.097313	0.64402	D	0.000001	D	0.95629	0.8579	M	0.89414	3.03	0.58432	D	0.999999	D	0.60575	0.988	D	0.67103	0.949	D	0.95573	0.8640	10	0.87932	D	0	.	8.2383	0.31640	0.0:0.09:0.0:0.91	.	1094	O75094	SLIT3_HUMAN	I	1094;1101;1094	ENSP00000430333:N1094I;ENSP00000332164:N1101I;ENSP00000384890:N1094I	ENSP00000332164:N1101I	N	-	2	0	SLIT3	168046595	1.000000	0.71417	0.981000	0.43875	0.047000	0.14425	5.148000	0.64857	1.828000	0.53243	0.460000	0.39030	AAT		0.632	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		9	34	0	0	0	0.004482	0	9	34				
SLIT3	6586	broad.mit.edu	37	5	168135007	168135007	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:168135007G>A	ENST00000519560.1	-	26	3237	c.2818C>T	c.(2818-2820)Cgc>Tgc	p.R940C	CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R947C|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.R940C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	940	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R940C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGCACAGCGGTACAGCTCC	0.617																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2818-2820)CGC>TGC		slit homolog 3 precursor							113.0	85.0	94.0					5																	168135007		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168135007G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2818C>T	5.37:g.168135007G>A	ENSP00000430333:p.Arg940Cys					SLIT3_uc010jjg.2_Missense_Mutation_p.R947C	p.R940C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	3238	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	940			EGF-like 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2818C>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457604	0.84317	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.87809	-2.3;-2.3;-2.3	4.94	4.94	0.65067	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.397901	0.30879	N	0.008687	D	0.93455	0.7912	M	0.84773	2.715	0.58432	D	0.999993	D	0.71674	0.998	P	0.61275	0.886	D	0.94614	0.7807	10	0.87932	D	0	.	18.194	0.89815	0.0:0.0:1.0:0.0	.	940	O75094	SLIT3_HUMAN	C	940;947;940	ENSP00000430333:R940C;ENSP00000332164:R947C;ENSP00000384890:R940C	ENSP00000332164:R947C	R	-	1	0	SLIT3	168067585	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.700000	0.74619	2.296000	0.77279	0.585000	0.79938	CGC		0.617	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		5	26	0	0	0	0.00308	0	5	26				
SIMC1	375484	broad.mit.edu	37	5	175763870	175763870	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:175763870C>G	ENST00000443967.1	+	10	2669	c.2262C>G	c.(2260-2262)ctC>ctG	p.L754L	SIMC1_ENST00000332772.4_Silent_p.L215L|SIMC1_ENST00000430704.2_Silent_p.L339L|SIMC1_ENST00000341199.6_Silent_p.L339L			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	754							SUMO polymer binding (GO:0032184)	p.L754L(1)									CGTCACTGCTCAAGTGTCAGG	0.483																																							uc003mds.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2260-2262)CTC>CTG		RecName: Full=Uncharacterized protein C5orf25;							58.0	59.0	59.0					5																	175763870		2203	4300	6503	SO:0001819	synonymous_variant	375484							g.chr5:175763870C>G	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2262C>G	5.37:g.175763870C>G						C5orf25_uc003mdt.3_Silent_p.L339L|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Silent_p.L215L	p.L754L			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	10	2669	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	754					J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.2262C>G																																																																																					0.483	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		6	19	0	0	0	0.001168	0	6	19				
HK3	3101	broad.mit.edu	37	5	176314464	176314464	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:176314464G>T	ENST00000292432.5	-	11	1679	c.1588C>A	c.(1588-1590)Cct>Act	p.P530T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	530	Catalytic.|Hexokinase type-1 2.			PD -> LT (in Ref. 4; AAC50422). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.P530T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCGTCAGGGGTGGCCCGG	0.672																																							uc003mfa.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(1588-1590)CCT>ACT		hexokinase 3							33.0	35.0	34.0					5																	176314464		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314464G>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1588C>A	5.37:g.176314464G>T	ENSP00000292432:p.Pro530Thr					HK3_uc003mez.2_Missense_Mutation_p.P86T	p.P530T	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1680	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	530	PD -> LT (in Ref. 4; AAC50422).		Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1588C>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565964	0.45694	.	.	ENSG00000160883	ENST00000292432	D	0.99867	-7.31	4.3	4.3	0.51218	Hexokinase, N-terminal (1);	0.000000	0.47852	D	0.000213	D	0.99919	0.9962	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95890	0.8906	10	0.87932	D	0	-9.917	14.5671	0.68185	0.0:0.0:1.0:0.0	.	530	P52790	HXK3_HUMAN	T	530	ENSP00000292432:P530T	ENSP00000292432:P530T	P	-	1	0	HK3	176247070	1.000000	0.71417	0.350000	0.25708	0.027000	0.11550	9.250000	0.95477	1.936000	0.56123	0.462000	0.41574	CCT		0.672	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			5	32	1	0	1.23904e-05	0.000602	1.80687e-05	5	32				
ZNF346	23567	broad.mit.edu	37	5	176489059	176489059	+	Splice_Site	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:176489059C>T	ENST00000358149.3	+	6	747	c.704C>T	c.(703-705)gCt>gTt	p.A235V	ZNF346_ENST00000503039.1_Splice_Site_p.A260V|ZNF346_ENST00000503425.1_Splice_Site_p.A203V|ZNF346_ENST00000512315.1_Splice_Site_p.A59V|ZNF346_ENST00000511834.1_Splice_Site_p.A251V|ZNF346_ENST00000261948.4_Splice_Site_p.A260V|ZNF346_ENST00000506693.1_Splice_Site_p.A137V	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	235					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A235V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGTTTCAGCTGGAAAGGGC	0.438																																							uc003mfi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(703-705)GCT>GTT		zinc finger protein 346							173.0	171.0	172.0					5																	176489059		2203	4300	6503	SO:0001630	splice_region_variant	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176489059C>T	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.704-1C>T	5.37:g.176489059C>T						ZNF346_uc011dfr.1_Missense_Mutation_p.A203V|ZNF346_uc011dfs.1_Missense_Mutation_p.A137V|ZNF346_uc003mfj.2_Missense_Mutation_p.A59V|ZNF346_uc003mfk.1_Missense_Mutation_p.A260V|ZNF346_uc011dft.1_Missense_Mutation_p.A59V	p.A235V	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	747	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	235					B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	c.704C>T	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327838	0.41197	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000512315;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T;T	0.49432	0.78;0.85;0.94;0.86;0.83;0.81;0.83	5.57	5.57	0.84162	.	0.122533	0.53938	D	0.000042	T	0.65842	0.2730	L	0.54323	1.7	0.40066	D	0.97595	D;D;D;D;D	0.89917	0.991;0.993;1.0;0.993;0.999	P;P;D;D;D	0.91635	0.877;0.849;0.999;0.968;0.994	T	0.63274	-0.6674	9	.	.	.	.	19.1436	0.93455	0.0:1.0:0.0:0.0	.	137;203;260;59;235	B7Z4J8;B7Z367;Q9UL40-2;B7Z4N4;Q9UL40	.;.;.;.;ZN346_HUMAN	V	235;137;59;203;260;251;260	ENSP00000350869:A235V;ENSP00000423515:A137V;ENSP00000421089:A59V;ENSP00000421212:A203V;ENSP00000261948:A260V;ENSP00000425725:A251V;ENSP00000424495:A260V	.	A	+	2	0	ZNF346	176421665	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.583000	0.74053	2.609000	0.88269	0.591000	0.81541	GCT		0.438	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279	Missense_Mutation	5	100	0	0	0	0.001168	0	5	100				
DDX41	51428	broad.mit.edu	37	5	176940389	176940389	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:176940389C>A	ENST00000507955.1	-	11	1718	c.1195G>T	c.(1195-1197)Ggg>Tgg	p.G399W	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	399					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G399W(1)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGCGCGCCCCACATTGATG	0.592																																							uc003mho.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1195-1197)GGG>TGG		DEAD-box protein abstrakt							97.0	104.0	102.0					5																	176940389		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176940389C>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1195G>T	5.37:g.176940389C>A	ENSP00000422753:p.Gly399Trp					DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.G179W|DDX41_uc003mhn.2_Missense_Mutation_p.G268W|DDX41_uc003mhp.2_Missense_Mutation_p.G268W|DDX41_uc003mhq.1_Missense_Mutation_p.G179W	p.G399W	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		11	1216	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	399					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.1195G>T	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907826	0.92107	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.51817	0.69;0.69	5.25	5.25	0.73442	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.90674	0.4600	10	0.87932	D	0	-33.7572	19.0273	0.92937	0.0:1.0:0.0:0.0	.	273;399	B3KRK2;Q9UJV9	.;DDX41_HUMAN	W	417;399	ENSP00000330349:G417W;ENSP00000422753:G399W	ENSP00000330349:G417W	G	-	1	0	DDX41	176872995	1.000000	0.71417	0.989000	0.46669	0.963000	0.63663	7.595000	0.82710	2.721000	0.93114	0.655000	0.94253	GGG		0.592	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		22	108	1	0	3.28513e-13	0.003954	6.24064e-13	22	108				
ZNF354C	30832	broad.mit.edu	37	5	178505705	178505705	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:178505705C>G	ENST00000315475.6	+	5	578	c.272C>G	c.(271-273)aCa>aGa	p.T91R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	91					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.T91R(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TGGCTTGAAACAGAAGCATTG	0.373																																							uc003mju.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)ACA>AGA		zinc finger protein 354C							50.0	51.0	51.0					5																	178505705		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178505705C>G		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.272C>G	5.37:g.178505705C>G	ENSP00000324064:p.Thr91Arg						p.T91R	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	387	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	91					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.272C>G	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	C	5.751	0.323059	0.10900	.	.	ENSG00000177932	ENST00000315475	T	0.05649	3.41	4.09	-2.95	0.05564	.	.	.	.	.	T	0.03871	0.0109	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42515	-0.9447	9	0.39692	T	0.17	-0.2399	2.0617	0.03593	0.1516:0.3972:0.155:0.2963	.	91	Q86Y25	Z354C_HUMAN	R	91	ENSP00000324064:T91R	ENSP00000324064:T91R	T	+	2	0	ZNF354C	178438311	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.868000	0.04236	-0.691000	0.05135	-0.469000	0.05056	ACA		0.373	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			4	37	0	0	0	0.001168	0	4	37				
DUSP22	56940	broad.mit.edu	37	6	348191	348191	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:348191G>T	ENST00000344450.5	+	6	795	c.352G>T	c.(352-354)Gtg>Ttg	p.V118L	DUSP22_ENST00000605315.1_Missense_Mutation_p.V15L|DUSP22_ENST00000419235.2_Missense_Mutation_p.V118L|DUSP22_ENST00000604971.1_Missense_Mutation_p.V15L|DUSP22_ENST00000603453.1_Missense_Mutation_p.V15L|DUSP22_ENST00000605035.1_Missense_Mutation_p.V15L|DUSP22_ENST00000605863.1_Missense_Mutation_p.V15L	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	118	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V118L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CCTGCACACCGTGCGTGCTGG	0.597																																							uc003msx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(352-354)GTG>TTG		dual specificity phosphatase 22							163.0	147.0	152.0					6																	348191		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348191G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.352G>T	6.37:g.348191G>T	ENSP00000345281:p.Val118Leu					DUSP22_uc011dhn.1_Missense_Mutation_p.V118L|DUSP22_uc003msy.1_Missense_Mutation_p.V75L	p.V118L	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	6	791	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	118			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.352G>T	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.594513|5.594513	0.96602|0.96602	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000419235|ENST00000344450	.|D	.|0.85629	.|-2.01	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.89891|0.89891	0.6846|0.6846	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.69078	.|0.901;0.997;0.997	.|P;D;D	.|0.71414	.|0.568;0.973;0.939	D|D	0.90011|0.90011	0.4121|0.4121	5|10	.|0.87932	.|D	.|0	.|.	20.0852|20.0852	0.97797|0.97797	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|118;75;118	.|Q9NRW4-2;B3KSA8;Q9NRW4	.|.;.;DUS22_HUMAN	L|L	55|118	.|ENSP00000345281:V118L	.|ENSP00000345281:V118L	R|V	+|+	2|1	0|0	DUSP22|DUSP22	293191|293191	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.877000|0.877000	0.50540|0.50540	9.807000|9.807000	0.99171|0.99171	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.597	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		7	127	1	0	8.12818e-05	0.001984	0.000110582	7	127				
GMDS	2762	broad.mit.edu	37	6	1742766	1742766	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:1742766C>A	ENST00000380815.4	-	8	1095	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	GMDS_ENST00000530927.1_Missense_Mutation_p.G246W	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	276					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)	p.G276W(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGGACCTCCCCAGTAGCTATA	0.448																																							uc003mtq.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(826-828)GGG>TGG		GDP-mannose 4,6-dehydratase							131.0	114.0	120.0					6																	1742766		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1742766C>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.826G>T	6.37:g.1742766C>A	ENSP00000370194:p.Gly276Trp						p.G276W	NM_001500	NP_001491	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	8	1016	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	276					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.826G>T	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878366	0.72294	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.91334	0.7267	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94920	0.8072	9	0.87932	D	0	-7.4145	19.4328	0.94778	0.0:1.0:0.0:0.0	.	276	O60547	GMDS_HUMAN	W	246;276	.	ENSP00000370194:G276W	G	-	1	0	GMDS	1687765	1.000000	0.71417	0.980000	0.43619	0.469000	0.32828	7.482000	0.81143	2.584000	0.87258	0.563000	0.77884	GGG		0.448	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			7	36	1	0	8.12818e-05	0.001984	0.000110582	7	36				
LY86	9450	broad.mit.edu	37	6	6588981	6588981	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:6588981C>A	ENST00000379953.2	+	2	366	c.14C>A	c.(13-15)aCa>aAa	p.T5K	LY86-AS1_ENST00000447858.1_RNA|LY86-AS1_ENST00000435641.1_RNA|LY86_ENST00000230568.4_Missense_Mutation_p.T5K|LY86-AS1_ENST00000429345.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	5					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.T5K(1)		large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					AAGGGTTTCACAGCCACTCTC	0.542																																							uc003mwy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(13-15)ACA>AAA		MD-1, RP105-associated precursor							87.0	84.0	85.0					6																	6588981		2203	4300	6503	SO:0001583	missense	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6588981C>A	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.14C>A	6.37:g.6588981C>A	ENSP00000369286:p.Thr5Lys					LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	p.T5K	NM_004271	NP_004262	O95711	LY86_HUMAN			1	48	+	Ovarian(93;0.0377)		5					Q9UQC4	Missense_Mutation	SNP	ENST00000379953.2	37	c.14C>A	CCDS4498.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928889	0.34002	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	T;T	0.48522	0.81;0.81	5.33	-1.69	0.08186	.	1.172740	0.06323	N	0.704799	T	0.12732	0.0309	N	0.24115	0.695	0.09310	N	1	B	0.29432	0.244	B	0.26770	0.073	T	0.30208	-0.9986	10	0.54805	T	0.06	4.237	5.1332	0.14921	0.0:0.2996:0.1645:0.536	.	5	O95711	LY86_HUMAN	K	5	ENSP00000369286:T5K;ENSP00000230568:T5K	ENSP00000230568:T5K	T	+	2	0	LY86	6533980	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-0.634000	0.05477	-0.218000	0.10018	0.655000	0.94253	ACA		0.542	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2			6	75	1	0	2.7689e-08	0.001984	4.68773e-08	6	75				
ELOVL2	54898	broad.mit.edu	37	6	10989959	10989959	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:10989959G>T	ENST00000354666.3	-	7	825	c.742C>A	c.(742-744)Ctc>Atc	p.L248I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	248					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)	p.L248I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTTAAGAAGAGGATGACTAAC	0.418																																							uc003mzp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(742-744)CTC>ATC		elongation of very long chain fatty acids-like							92.0	84.0	87.0					6																	10989959		2203	4300	6503	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10989959G>T	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.742C>A	6.37:g.10989959G>T	ENSP00000346693:p.Leu248Ile						p.L248I	NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		7	903	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	248			Helical; (Potential).		Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.742C>A	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894655	0.72639	.	.	ENSG00000197977	ENST00000354666	T	0.58060	0.36	5.68	3.58	0.41010	.	0.000000	0.64402	D	0.000010	T	0.70237	0.3201	H	0.94925	3.6	0.51012	D	0.999909	P	0.50156	0.932	P	0.59012	0.85	T	0.79727	-0.1682	10	0.87932	D	0	-13.8581	13.0392	0.58889	0.1519:0.0:0.8481:0.0	.	248	Q9NXB9	ELOV2_HUMAN	I	248	ENSP00000346693:L248I	ENSP00000346693:L248I	L	-	1	0	ELOVL2	11097945	1.000000	0.71417	0.995000	0.50966	0.584000	0.36387	4.618000	0.61211	1.399000	0.46721	0.650000	0.86243	CTC		0.418	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			9	36	1	0	1.12685e-05	0.004482	1.66247e-05	9	36				
HIVEP1	3096	broad.mit.edu	37	6	12123583	12123583	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:12123583C>T	ENST00000379388.2	+	4	3887	c.3555C>T	c.(3553-3555)caC>caT	p.H1185H	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1185					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H1185H(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGAAAGTCACCCTTCTCGGG	0.507																																							uc003nac.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3553-3555)CAC>CAT		human immunodeficiency virus type I enhancer							38.0	38.0	38.0					6																	12123583		1894	4109	6003	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123583C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3555C>T	6.37:g.12123583C>T						HIVEP1_uc011diq.1_RNA	p.H1185H	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	3734	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1185					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3555C>T	CCDS43426.1																																																																																				0.507	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		6	20	0	0	0	0.001168	0	6	20				
KDM1B	221656	broad.mit.edu	37	6	18208362	18208362	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:18208362G>T	ENST00000388870.2	+	17	2035	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Splice_Site|KDM1B_ENST00000397244.1_Missense_Mutation_p.Q366H			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	597					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTTTGAGCAGGTGCAGTGTA	0.423																																							uc003nco.1		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e10-1		amine oxidase (flavin containing) domain 1							168.0	164.0	166.0					6																	18208362		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18208362G>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000388870.2:c.1794G>T	6.37:g.18208362G>T	ENSP00000373522:p.Gln598His					KDM1B_uc003ncn.1_Splice_Site_p.V366_splice	p.V395_splice	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			10	1258	+								A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Splice_Site	SNP	ENST00000388870.2	37	c.1183_splice		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.86|14.86|14.86	2.662071|2.662071|2.662071	0.47572|0.47572|0.47572	.|.|.	.|.|.	ENSG00000165097|ENSG00000165097|ENSG00000165097	ENST00000297792;ENST00000388869|ENST00000388870;ENST00000397244|ENST00000449850	.|D;D|.	.|0.92446|.	.|-3.04;-3.04|.	5.16|5.16|5.16	5.16|5.16|5.16	0.70880|0.70880|0.70880	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.69169|0.69169	.|0.3081|0.3081	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.66901|0.66901	.|-0.5806|-0.5806	.|6|4	.|0.45353|.	.|T|.	.|0.12|.	.|-8.1766|-8.1766	18.8307|18.8307|18.8307	0.92137|0.92137|0.92137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	.|H|M	-1|598;366|415	.|ENSP00000373522:Q598H;ENSP00000380419:Q366H|.	.|ENSP00000373522:Q598H|.	.|Q|R	+|+|+	.|3|2	.|2|0	KDM1B|KDM1B|KDM1B	18316341|18316341|18316341	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.247000|0.247000|0.247000	0.25773|0.25773|0.25773	8.531000|8.531000|8.531000	0.90610|0.90610|0.90610	2.689000|2.689000|2.689000	0.91719|0.91719|0.91719	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|CAG|AGG		0.423	KDM1B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153042		12	52	1	0	1.08611e-07	0.000978	1.79074e-07	12	52				
SLC17A3	10786	broad.mit.edu	37	6	25862555	25862555	+	Missense_Mutation	SNP	G	G	A	rs372711885		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:25862555G>A	ENST00000360657.3	-	3	494	c.209C>T	c.(208-210)aCa>aTa	p.T70I	SLC17A3_ENST00000397060.4_Missense_Mutation_p.T70I|SLC17A3_ENST00000361703.6_Missense_Mutation_p.T70I			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	70					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.T70I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTGAGGGCTTGTGCTGTTGAC	0.473																																							uc003nfi.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(208-210)ACA>ATA		solute carrier family 17 (sodium phosphate),							212.0	163.0	180.0					6																	25862555		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862555G>A	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.209C>T	6.37:g.25862555G>A	ENSP00000353873:p.Thr70Ile					SLC17A3_uc003nfk.3_Missense_Mutation_p.T70I|SLC17A3_uc011djz.1_Missense_Mutation_p.T70I|SLC17A3_uc011dka.1_Missense_Mutation_p.T70I	p.T70I	NM_006632	NP_006623	O00476	NPT4_HUMAN			3	319	-			70					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.209C>T	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058693	0.36277	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.69306	0.46;-0.39;-0.39	3.81	3.81	0.43845	.	.	.	.	.	T	0.73345	0.3575	M	0.78916	2.43	0.27156	N	0.961284	D;D;D;D	0.89917	1.0;1.0;0.992;1.0	D;D;D;D	0.91635	0.994;0.999;0.968;0.994	T	0.61888	-0.6970	9	0.39692	T	0.17	.	11.4912	0.50381	0.0:0.0:1.0:0.0	.	70;51;70;70	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	I	70	ENSP00000380250:T70I;ENSP00000353873:T70I;ENSP00000355307:T70I	ENSP00000353873:T70I	T	-	2	0	SLC17A3	25970534	0.996000	0.38824	0.829000	0.32907	0.772000	0.43724	4.514000	0.60482	2.393000	0.81446	0.557000	0.71058	ACA		0.473	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			12	46	0	0	0	0.000978	0	12	46				
OR5V1	81696	broad.mit.edu	37	6	29323886	29323886	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:29323886G>T	ENST00000377154.1	-	4	386	c.87C>A	c.(85-87)acC>acA	p.T29T	OR5V1_ENST00000543825.1_Silent_p.T29T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T29T(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAAGAAGATGGTGAATAGTA	0.353																																					Ovarian(32;43 883 21137 32120 42650)	Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)	4						c.(85-87)ACC>ACA		olfactory receptor, family 5, subfamily V,							82.0	86.0	85.0					6																	29323886		2202	4298	6500	SO:0001819	synonymous_variant	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323886G>T		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.87C>A	6.37:g.29323886G>T							p.T29T	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	169	-			29			Helical; Name=1; (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Silent	SNP	ENST00000377154.1	37	c.87C>A	CCDS4657.1																																																																																				0.353	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			9	71	1	0	0.00448238	0.004482	0.00529312	9	71				
OR11A1	26531	broad.mit.edu	37	6	29395248	29395248	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:29395248G>T	ENST00000377149.1	-	5	643	c.171C>A	c.(169-171)ctC>ctA	p.L57L	OR11A1_ENST00000377147.2_Silent_p.L57L|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.L57L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L57L(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGGTTTGTGGAGCCTCTGGG	0.428																																							uc003nmg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(169-171)CTC>CTA		olfactory receptor, family 11, subfamily A,							86.0	82.0	84.0					6																	29395248		1511	2708	4219	SO:0001819	synonymous_variant	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29395248G>T		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.171C>A	6.37:g.29395248G>T							p.L57L	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	262	-			57			Helical; Name=2; (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP	ENST00000377149.1	37	c.171C>A	CCDS34363.1																																																																																				0.428	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			13	43	1	0	7.93312e-07	0.00245	1.24304e-06	13	43				
RNF39	80352	broad.mit.edu	37	6	30041008	30041008	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:30041008G>A	ENST00000244360.6	-	3	705	c.608C>T	c.(607-609)tCc>tTc	p.S203F	RNF39_ENST00000376751.3_Missense_Mutation_p.S203F	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	203			S -> P (in dbSNP:rs2074479). {ECO:0000269|PubMed:14574404}.			cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.S203F(1)									AGATGACTTGGATGTTGGGAC	0.473																																					NSCLC(8;188 360 1520 20207 31481)	NSCLC(8;188 360 1520 20207 31481)	uc003npe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(607-609)TCC>TTC		ring finger protein 39 isoform 1							132.0	129.0	130.0					6																	30041008		1511	2709	4220	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30041008G>A	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.608C>T	6.37:g.30041008G>A	ENSP00000244360:p.Ser203Phe					RNF39_uc003npd.2_Missense_Mutation_p.S203F	p.S203F	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN			3	670	-			203					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.608C>T	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	g	8.528	0.870235	0.17322	.	.	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.70869	-0.03;-0.52	3.99	3.99	0.46301	.	0.546488	0.13684	U	0.370007	T	0.31670	0.0804	N	0.08118	0	0.19575	N	0.999964	P;P	0.48640	0.913;0.589	B;B	0.37601	0.254;0.126	T	0.13308	-1.0514	10	0.49607	T	0.09	-19.0329	11.8043	0.52145	0.0:0.0:1.0:0.0	.	203;203	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	F	203	ENSP00000365942:S203F;ENSP00000244360:S203F	ENSP00000244360:S203F	S	-	2	0	RNF39	30148987	0.999000	0.42202	0.690000	0.30148	0.020000	0.10135	2.900000	0.48687	2.242000	0.73789	0.466000	0.42574	TCC		0.473	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		7	67	0	0	0	0.001984	0	7	67				
NOTCH4	4855	broad.mit.edu	37	6	32181560	32181560	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:32181560C>G	ENST00000375023.3	-	14	2363	c.2225G>C	c.(2224-2226)gGc>gCc	p.G742A	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	742	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.G742A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTTGCAGGAGCCGCCATTGAG	0.592																																							uc003obb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(2224-2226)GGC>GCC		notch4 preproprotein							81.0	65.0	71.0					6																	32181560		1509	2709	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32181560C>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2225G>C	6.37:g.32181560C>G	ENSP00000364163:p.Gly742Ala					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.G742A	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			14	2364	-			742			EGF-like 19.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.2225G>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285252	0.40394	.	.	ENSG00000204301	ENST00000375023	T	0.75704	-0.96	3.88	3.88	0.44766	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.43416	D	0.000564	T	0.43433	0.1247	N	0.13140	0.3	0.80722	D	1	P	0.47106	0.89	P	0.46975	0.533	T	0.44937	-0.9295	10	0.09843	T	0.71	.	9.7119	0.40251	0.0:0.7877:0.2123:0.0	.	742	Q99466	NOTC4_HUMAN	A	742	ENSP00000364163:G742A	ENSP00000364163:G742A	G	-	2	0	NOTCH4	32289538	0.186000	0.23225	1.000000	0.80357	0.987000	0.75469	0.447000	0.21710	2.169000	0.68431	0.561000	0.74099	GGC		0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			5	33	0	0	0	0.001168	0	5	33				
NOTCH4	4855	broad.mit.edu	37	6	32188027	32188027	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:32188027G>T	ENST00000375023.3	-	7	1332	c.1194C>A	c.(1192-1194)agC>agA	p.S398R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	398	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.S398R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCACGGCTGGCTCAGACACA	0.622																																							uc003obb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(1192-1194)AGC>AGA		notch4 preproprotein							68.0	68.0	68.0					6																	32188027		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188027G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1194C>A	6.37:g.32188027G>T	ENSP00000364163:p.Ser398Arg					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.S398R	p.S398R	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			7	1333	-			398			EGF-like 10.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1194C>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	g	8.120	0.780808	0.16120	.	.	ENSG00000204301	ENST00000375023	D	0.87966	-2.32	4.17	-4.35	0.03656	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.297080	0.24041	N	0.042092	T	0.71031	0.3292	M	0.67953	2.075	0.58432	D	0.999999	B;B	0.28400	0.041;0.21	B;B	0.25506	0.06;0.061	T	0.58418	-0.7640	10	0.66056	D	0.02	.	7.1932	0.25837	0.5232:0.1211:0.3556:0.0	.	398;398	Q6P3V5;Q99466	.;NOTC4_HUMAN	R	398	ENSP00000364163:S398R	ENSP00000364163:S398R	S	-	3	2	NOTCH4	32296005	0.896000	0.30565	0.955000	0.39395	0.456000	0.32438	-0.085000	0.11250	-0.874000	0.04027	-0.642000	0.03964	AGC		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			12	33	1	0	2.27111e-07	0.001368	3.68043e-07	12	33				
PSMB9	5698	broad.mit.edu	37	6	32827219	32827219	+	Silent	SNP	G	G	C	rs145965388	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:32827219G>C	ENST00000374859.2	+	6	639	c.570G>C	c.(568-570)ggG>ggC	p.G190G	PSMB9_ENST00000395330.1_Silent_p.G167G	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	190					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein 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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.G190G(1)		large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	GCTCAAGCGGGGGTGTCATCT	0.502																																							uc003sga.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)GGG>GGC		proteasome beta 9 subunit isoform 2 proprotein							213.0	218.0	216.0					6																	32827219		2203	4300	6503	SO:0001819	synonymous_variant	5698				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr6:32827219G>C		CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.570G>C	6.37:g.32827219G>C							p.G178G	NM_148954	NP_683756	P28065	PSB9_HUMAN			7	609	+			190					B0V0T1|Q16523|Q5JNW4	Silent	SNP	ENST00000374859.2	37	c.534G>C	CCDS4759.1																																																																																				0.502	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076624.5	NM_002800		38	164	0	0	0	0.006999	0	38	164				
ZBTB22	9278	broad.mit.edu	37	6	33283189	33283189	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:33283189C>G	ENST00000431845.2	-	2	1656	c.1505G>C	c.(1504-1506)cGg>cCg	p.R502P	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.R502P|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	502					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.R502P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTTCACGTGCCGGTCCCGCAT	0.562																																							uc003oeb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1504-1506)CGG>CCG		zinc finger and BTB domain containing 22							151.0	150.0	150.0					6																	33283189		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283189C>G	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1505G>C	6.37:g.33283189C>G	ENSP00000407545:p.Arg502Pro					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.R502P	p.R502P	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1657	-			502			C2H2-type 1; atypical.		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1505G>C	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797919	0.70567	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.26810	1.71;1.71	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31415	N	0.007697	T	0.15176	0.0366	L	0.53780	1.695	0.58432	D	0.999999	P	0.35383	0.498	B	0.33295	0.161	T	0.06625	-1.0816	10	0.66056	D	0.02	.	14.1425	0.65329	0.0:1.0:0.0:0.0	.	502	O15209	ZBT22_HUMAN	P	502	ENSP00000404403:R502P;ENSP00000407545:R502P	ENSP00000404403:R502P	R	-	2	0	ZBTB22	33391167	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.612000	0.82975	2.178000	0.69098	0.448000	0.29417	CGG		0.562	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			12	96	0	0	0	0.001368	0	12	96				
TCP11	6954	broad.mit.edu	37	6	35088395	35088395	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:35088395C>T	ENST00000512012.1	-	6	900	c.744G>A	c.(742-744)ctG>ctA	p.L248L	TCP11_ENST00000244645.3_Silent_p.L186L|TCP11_ENST00000311875.5_Silent_p.L261L|TCP11_ENST00000444780.2_Silent_p.L256L|TCP11_ENST00000418521.2_Silent_p.L185L|TCP11_ENST00000373974.4_Silent_p.L215L|TCP11_ENST00000373979.2_Silent_p.L186L|TCP11_ENST00000412155.2_Silent_p.L210L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	248					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L261L(1)|p.L186L(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTGCTTGGGTCAGCCATTTGG	0.522																																							uc003okd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(781-783)CTG>CTA		t-complex 11 isoform 1							153.0	140.0	144.0					6																	35088395		2203	4300	6503	SO:0001819	synonymous_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35088395C>T		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.744G>A	6.37:g.35088395C>T						TCP11_uc003ojz.1_Silent_p.L186L|TCP11_uc003oka.2_Silent_p.L186L|TCP11_uc003okb.2_Silent_p.L185L|TCP11_uc003okc.2_Silent_p.L185L|TCP11_uc011dsu.1_Silent_p.L243L|TCP11_uc011dsv.1_Silent_p.L210L|TCP11_uc011dsw.1_Silent_p.L215L	p.L261L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN			7	964	-			248					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37	c.783G>A		.	.	.	.	.	.	.	.	.	.	C	9.720	1.159292	0.21454	.	.	ENSG00000124678	ENST00000502480	.	.	.	5.03	-0.947	0.10382	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37126	-0.9719	4	.	.	.	.	8.4598	0.32921	0.0:0.4857:0.4024:0.112	.	.	.	.	N	56	.	.	D	-	1	0	TCP11	35196373	0.001000	0.12720	0.880000	0.34516	0.977000	0.68977	-0.304000	0.08199	-0.125000	0.11703	0.557000	0.71058	GAC		0.522	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		6	22	0	0	0	0.001984	0	6	22				
TREML1	340205	broad.mit.edu	37	6	41117386	41117386	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:41117386C>A	ENST00000426005.2	-	6	935	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W	TREML1_ENST00000373127.4_3'UTR|TREML1_ENST00000437044.2_Missense_Mutation_p.G187W	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	298					calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)		p.G298W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGCTGGCCCACACGAGGTC	0.542																																							uc011duc.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(892-894)GGG>TGG		triggering receptor expressed on myeloid							172.0	156.0	161.0					6																	41117386		2203	4300	6503	SO:0001583	missense	340205				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	g.chr6:41117386C>A	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.892G>T	6.37:g.41117386C>A	ENSP00000402855:p.Gly298Trp					TREML1_uc003opx.2_3'UTR|TREML1_uc011dud.1_Missense_Mutation_p.G187W	p.G298W	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN			6	936	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		298			Cytoplasmic (Potential).		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	c.892G>T	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954838	0.34471	.	.	ENSG00000161911	ENST00000373127;ENST00000437044	T	0.46819	0.86	5.7	3.83	0.44106	.	0.330359	0.26244	N	0.025491	T	0.21307	0.0513	N	0.08118	0	0.20873	N	0.999832	P;D	0.58620	0.935;0.983	P;P	0.53006	0.614;0.715	T	0.04825	-1.0924	10	0.72032	D	0.01	.	8.8527	0.35210	0.0:0.7468:0.1638:0.0893	.	187;298	Q86YW5-3;Q86YW5	.;TRML1_HUMAN	W	298;187	ENSP00000400405:G187W	ENSP00000362219:G298W	G	-	1	0	TREML1	41225364	0.150000	0.22732	0.977000	0.42913	0.043000	0.13939	0.841000	0.27613	1.421000	0.47157	0.655000	0.94253	GGG		0.542	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		5	61	1	0	3.59834e-05	0.001168	5.08422e-05	5	61				
CD2AP	23607	broad.mit.edu	37	6	47544814	47544814	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:47544814G>C	ENST00000359314.5	+	8	1334	c.878G>C	c.(877-879)gGg>gCg	p.G293A		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	293	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.G293A(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTAAAGAGGGGGAGATAATC	0.284																																							uc003oyw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(877-879)GGG>GCG		CD2-associated protein							100.0	110.0	107.0					6																	47544814		2203	4294	6497	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47544814G>C	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.878G>C	6.37:g.47544814G>C	ENSP00000352264:p.Gly293Ala						p.G293A	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		8	1334	+			293			SH3 3.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.878G>C	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781100	0.90282	.	.	ENSG00000198087	ENST00000359314	T	0.72282	-0.64	5.72	5.72	0.89469	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	D	0.90167	0.6927	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93191	0.6583	10	0.87932	D	0	-13.3783	19.8709	0.96851	0.0:0.0:1.0:0.0	.	293	Q9Y5K6	CD2AP_HUMAN	A	293	ENSP00000352264:G293A	ENSP00000352264:G293A	G	+	2	0	CD2AP	47652773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.404000	0.90210	2.698000	0.92095	0.591000	0.81541	GGG		0.284	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			4	107	0	0	0	0.001984	0	4	107				
TFAP2D	83741	broad.mit.edu	37	6	50718983	50718983	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:50718983C>A	ENST00000008391.3	+	7	1313	c.1085C>A	c.(1084-1086)tCc>tAc	p.S362Y	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.S362Y(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTGGGATCCTCCAGACCCACT	0.353																																							uc003paf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(1)	7						c.(1084-1086)TCC>TAC		transcription factor AP-2 beta-like 1							108.0	99.0	102.0					6																	50718983		2203	4299	6502	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50718983C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1085C>A	6.37:g.50718983C>A	ENSP00000008391:p.Ser362Tyr					TFAP2D_uc011dwt.1_RNA	p.S362Y	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			7	1597	+	Lung NSC(77;0.0334)		362			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1085C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563084	0.86335	.	.	ENSG00000008197	ENST00000008391	D	0.96913	-4.17	5.48	5.48	0.80851	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	M	0.71581	2.175	0.80722	D	1	P	0.42078	0.77	P	0.48873	0.593	D	0.97155	0.9834	10	0.87932	D	0	-19.194	19.3519	0.94392	0.0:1.0:0.0:0.0	.	362	Q7Z6R9	AP2D_HUMAN	Y	362	ENSP00000008391:S362Y	ENSP00000008391:S362Y	S	+	2	0	TFAP2D	50826942	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.574000	0.86865	0.484000	0.47621	TCC		0.353	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		6	23	1	0	8.12818e-05	0.001984	0.000110582	6	23				
TFAP2B	7021	broad.mit.edu	37	6	50803869	50803869	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:50803869G>T	ENST00000393655.3	+	4	866	c.697G>T	c.(697-699)Gtc>Ttc	p.V233F	TFAP2B_ENST00000263046.4_Missense_Mutation_p.V242F	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	233					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V233F(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GTTTTGCTCCGTCCCAGGCCG	0.512																																					Pancreas(116;1373 2332 5475 10752)	Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GTC>TTC		transcription factor AP-2 beta							92.0	92.0	92.0					6																	50803869		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50803869G>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.697G>T	6.37:g.50803869G>T	ENSP00000377265:p.Val233Phe						p.V233F	NM_003221	NP_003212	Q92481	AP2B_HUMAN			4	863	+	Lung NSC(77;0.156)		233					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.697G>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351246	0.41700	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.98762	-5.12;-5.12	5.34	5.34	0.76211	Transcription factor AP-2, C-terminal (1);	0.183899	0.47093	D	0.000248	D	0.98950	0.9643	M	0.82193	2.58	0.80722	D	1	P	0.49783	0.928	P	0.57425	0.82	D	0.99866	1.1090	10	0.87932	D	0	-16.8707	19.0331	0.92965	0.0:0.0:1.0:0.0	.	233	Q92481	AP2B_HUMAN	F	233;242	ENSP00000377265:V233F;ENSP00000263046:V242F	ENSP00000263046:V242F	V	+	1	0	TFAP2B	50911828	1.000000	0.71417	0.501000	0.27601	0.033000	0.12548	9.869000	0.99810	2.503000	0.84419	0.650000	0.86243	GTC		0.512	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		13	51	1	0	2.27111e-07	0.001368	3.68043e-07	13	51				
MLIP	90523	broad.mit.edu	37	6	54095697	54095697	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:54095697T>A	ENST00000274897.5	+	11	1412	c.1299T>A	c.(1297-1299)agT>agA	p.S433R	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.S968R|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	433						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.S433R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCCTCCTCAGTCACAACGCAT	0.468																																							uc003pcg.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)AGT>AGA		hypothetical protein LOC90523							158.0	140.0	146.0					6																	54095697		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:54095697T>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1299T>A	6.37:g.54095697T>A	ENSP00000274897:p.Ser433Arg					C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.S968R	p.S433R	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			11	1412	+	Lung NSC(77;0.0317)		433					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.1299T>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444633	0.43429	.	.	ENSG00000146147	ENST00000274897;ENST00000502396	T;T	0.26810	2.08;1.71	5.59	4.43	0.53597	.	0.000000	0.52532	D	0.000061	T	0.21761	0.0524	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.956	T	0.07520	-1.0768	10	0.87932	D	0	.	8.1324	0.31035	0.0:0.0905:0.0:0.9095	.	968;433	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	R	433;968	ENSP00000274897:S433R;ENSP00000426290:S968R	ENSP00000274897:S433R	S	+	3	2	MLIP	54203656	0.999000	0.42202	0.978000	0.43139	0.126000	0.20510	0.726000	0.25984	0.957000	0.37930	0.528000	0.53228	AGT		0.468	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		21	74	0	0	0	0.008871	0	21	74				
FAM83B	222584	broad.mit.edu	37	6	54805949	54805949	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:54805949G>T	ENST00000306858.7	+	5	2296	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	727								p.R727I(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)					GTTACCAAGAGAAACTCTCCA	0.393																																							uc003pck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2179-2181)AGA>ATA		hypothetical protein LOC222584							89.0	91.0	90.0					6																	54805949		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805949G>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.2180G>T	6.37:g.54805949G>T	ENSP00000304078:p.Arg727Ile						p.R727I	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2296	+	Lung NSC(77;0.0178)|Renal(3;0.122)		727					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2180G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	3.049	-0.195773	0.06259	.	.	ENSG00000168143	ENST00000306858	T	0.33216	1.42	5.48	1.69	0.24217	.	1.153680	0.06107	N	0.666489	T	0.12902	0.0313	L	0.51422	1.61	0.09310	N	1	P	0.38642	0.641	B	0.31751	0.135	T	0.34950	-0.9808	10	0.54805	T	0.06	-4.9239	11.8571	0.52444	0.3204:0.0:0.6796:0.0	.	727	Q5T0W9	FA83B_HUMAN	I	727	ENSP00000304078:R727I	ENSP00000304078:R727I	R	+	2	0	FAM83B	54913908	0.996000	0.38824	0.000000	0.03702	0.000000	0.00434	1.427000	0.34881	0.110000	0.17919	-0.797000	0.03246	AGA		0.393	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		21	48	1	0	1.28384e-07	0.001882	2.10757e-07	21	48				
CD109	135228	broad.mit.edu	37	6	74497100	74497100	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:74497100G>T	ENST00000287097.5	+	21	2593	c.2481G>T	c.(2479-2481)ctG>ctT	p.L827L	CD109_ENST00000437994.2_Silent_p.L827L|CD109_ENST00000422508.2_Silent_p.L750L			Q6YHK3	CD109_HUMAN	CD109 molecule	827					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.L827L(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						CAACACATCTGGGAGAAATTC	0.448																																							uc003php.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(2479-2481)CTG>CTT		CD109 antigen isoform 1 precursor							113.0	109.0	110.0					6																	74497100		2203	4300	6503	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74497100G>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.2481G>T	6.37:g.74497100G>T						CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Silent_p.L827L|CD109_uc010kba.2_Silent_p.L750L	p.L827L	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			21	2906	+			827					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.2481G>T	CCDS4982.1																																																																																				0.448	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		7	42	1	0	0.00307968	0.00308	0.00367105	7	42				
HTR1B	3351	broad.mit.edu	37	6	78172306	78172306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:78172306G>T	ENST00000369947.2	-	1	1184	c.815C>A	c.(814-816)tCg>tAg	p.S272*		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	272					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S272*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGAACCCGCGAGTTAATAGA	0.572																																							uc003pil.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(814-816)TCG>TAG		5-hydroxytryptamine (serotonin) receptor 1B	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						87.0	100.0	95.0					6																	78172306		2203	4300	6503	SO:0001587	stop_gained	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172306G>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.815C>A	6.37:g.78172306G>T	ENSP00000358963:p.Ser272*						p.S272*	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	815	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	272			Cytoplasmic (By similarity).		Q4VAY7	Nonsense_Mutation	SNP	ENST00000369947.2	37	c.815C>A	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	38	7.029798	0.98013	.	.	ENSG00000135312	ENST00000369947	.	.	.	5.13	5.13	0.70059	.	0.207171	0.42172	D	0.000757	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.745	0.88418	0.0:0.0:1.0:0.0	.	.	.	.	X	272	.	.	S	-	2	0	HTR1B	78229025	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.673000	0.46858	2.665000	0.90641	0.561000	0.74099	TCG		0.572	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		11	100	1	0	0.00829132	0.008291	0.00961116	11	100				
EPHA7	2045	broad.mit.edu	37	6	94120573	94120574	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:94120573_94120574GG>TT	ENST00000369303.4	-	3	661_662	c.477_478CC>AA	c.(475-480)gaCCtt>gaAAtt	p.159_160DL>EI	EPHA7_ENST00000369297.1_Missense_Mutation_p.159_160DL>EI	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	159	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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.D159_L160>EI(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)		CTTTCACCAAGGTCACCTTGGG	0.401																																							uc003poe.2		NA																	1	Complex - compound substitution(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.(475-480)GACCTT>GAAATT		ephrin receptor EphA7 precursor																																				SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120573_94120574GG>TT	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.477_478delinsTT	6.37:g.94120573_94120574delinsTT	ENSP00000358309:p.D159_L160delinsEI					EPHA7_uc003pof.2_Missense_Mutation_p.159_160DL>EI|EPHA7_uc011eac.1_Missense_Mutation_p.159_160DL>EI|EPHA7_uc003pog.3_Missense_Mutation_p.159_160DL>EI	p.159_160DL>EI	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	718_719	-		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)	159_160			Extracellular (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	DNP	ENST00000369303.4	37	c.477_478CC>AA	CCDS5031.1																																																																																				0.401	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			5	80	0	0	0	0.004672	0	5	80				
DDO	8528	broad.mit.edu	37	6	110714247	110714247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:110714247C>A	ENST00000368924.3	-	5	856	c.841G>T	c.(841-843)Gag>Tag	p.E281*	DDO_ENST00000368923.3_Nonsense_Mutation_p.E222*	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	253					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)	p.E281*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GAAAGAATCTCTCTGCTATTT	0.547																																							uc003puc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)	3						c.(841-843)GAG>TAG		D-aspartate oxidase isoform a							154.0	158.0	157.0					6																	110714247		2203	4300	6503	SO:0001587	stop_gained	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110714247C>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.841G>T	6.37:g.110714247C>A	ENSP00000357920:p.Glu281*					C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Nonsense_Mutation_p.E222*	p.E281*	NM_003649	NP_003640	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	5	845	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	253					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Nonsense_Mutation	SNP	ENST00000368924.3	37	c.841G>T	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947513	0.73672	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	.	.	.	5.84	5.84	0.93424	.	0.652851	0.16592	N	0.207740	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.1394	14.3181	0.66465	0.0:0.9293:0.0:0.0707	.	.	.	.	X	281;222;253	.	ENSP00000357919:E222X	E	-	1	0	DDO	110820940	0.987000	0.35691	0.684000	0.30055	0.366000	0.29705	2.909000	0.48758	2.769000	0.95229	0.563000	0.77884	GAG		0.547	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			16	123	1	0	4.14922e-12	0.004007	7.76526e-12	16	123				
DCBLD1	285761	broad.mit.edu	37	6	117825053	117825053	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:117825053G>T	ENST00000338728.5	+	2	356	c.236G>T	c.(235-237)aGa>aTa	p.R79I	DCBLD1_ENST00000368503.4_Missense_Mutation_p.R79I|DCBLD1_ENST00000296955.8_Missense_Mutation_p.R79I|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	79	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R79I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AAGGGGAAAAGACTGATTCTG	0.423																																							uc003pxs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(235-237)AGA>ATA		discoidin, CUB and LCCL domain containing 1							140.0	136.0	137.0					6																	117825053		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117825053G>T	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.236G>T	6.37:g.117825053G>T	ENSP00000342422:p.Arg79Ile					GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.R79I	p.R79I	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	2	361	+		all_cancers(87;0.171)	79			CUB.|Extracellular (Potential).		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.236G>T		.	.	.	.	.	.	.	.	.	.	G	17.19	3.326421	0.60743	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	T;T;T	0.19250	2.16;2.16;2.16	5.21	0.0444	0.14225	CUB (5);	0.395370	0.27996	N	0.017009	T	0.11707	0.0285	L	0.48174	1.505	0.26230	N	0.979022	P;P	0.48230	0.907;0.863	P;B	0.51833	0.681;0.438	T	0.08868	-1.0701	10	0.87932	D	0	-6.7162	6.6643	0.23032	0.2083:0.2324:0.5593:0.0	.	79;79	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	I	79	ENSP00000296955:R79I;ENSP00000357489:R79I;ENSP00000342422:R79I	ENSP00000296955:R79I	R	+	2	0	DCBLD1	117931746	0.177000	0.23109	0.241000	0.24154	0.898000	0.52572	0.372000	0.20467	-0.097000	0.12307	-1.078000	0.02229	AGA		0.423	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		16	58	1	0	3.41278e-10	0.00499	6.12468e-10	16	58				
SAMD3	154075	broad.mit.edu	37	6	130465706	130465706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:130465706C>A	ENST00000368134.2	-	14	2130	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*	RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000457563.2_Nonsense_Mutation_p.E532*|SAMD3_ENST00000439090.2_Nonsense_Mutation_p.E508*|RP11-73O6.3_ENST00000609978.1_RNA|SAMD3_ENST00000437477.2_Nonsense_Mutation_p.E508*	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	508								p.E508*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTTCCTTTTCTTTCAAAGAA	0.373																																							uc003qbv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1522-1524)GAA>TAA		sterile alpha motif domain containing 3 isoform							94.0	90.0	91.0					6																	130465706		2203	4300	6503	SO:0001587	stop_gained	154075							g.chr6:130465706C>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1522G>T	6.37:g.130465706C>A	ENSP00000357116:p.Glu508*					SAMD3_uc003qbx.2_Nonsense_Mutation_p.E508*|SAMD3_uc003qbw.2_Nonsense_Mutation_p.E508*	p.E508*	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	13	1848	-			508					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Nonsense_Mutation	SNP	ENST00000368134.2	37	c.1522G>T	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	35	5.584626	0.96578	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	.	.	.	5.29	4.42	0.53409	.	0.559798	0.17262	N	0.180750	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	8.4183	0.32685	0.1524:0.7691:0.0:0.0784	.	.	.	.	X	508;532;508;508	.	ENSP00000357116:E508X	E	-	1	0	SAMD3	130507399	0.198000	0.23374	0.985000	0.45067	0.972000	0.66771	1.250000	0.32850	1.360000	0.45960	0.563000	0.77884	GAA		0.373	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		5	35	1	0	0.000602214	0.000602	0.000754262	5	35				
CITED2	10370	broad.mit.edu	37	6	139695015	139695015	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:139695015G>A	ENST00000367651.2	-	2	282	c.67C>T	c.(67-69)Cac>Tac	p.H23Y	CITED2_ENST00000536159.1_Missense_Mutation_p.H23Y|CITED2_ENST00000537332.1_Missense_Mutation_p.H23Y	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	23	His-rich.				adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.H23Y(1)		large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TGGGCAGGGTGATGGTGCAGC	0.612																																					NSCLC(98;1219 1550 33720 43229 49330)	NSCLC(98;1219 1550 33720 43229 49330)	uc003qip.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)CAC>TAC		Cbp/p300-interacting transactivator, with							43.0	40.0	41.0					6																	139695015		2203	4300	6503	SO:0001583	missense	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139695015G>A	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.67C>T	6.37:g.139695015G>A	ENSP00000356623:p.His23Tyr						p.H23Y	NM_006079	NP_006070	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	311	-	Breast(32;0.226)		23			His-rich.		O95426|Q5VTF4	Missense_Mutation	SNP	ENST00000367651.2	37	c.67C>T	CCDS5195.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778491	0.49786	.	.	ENSG00000164442	ENST00000367651;ENST00000536159;ENST00000537332;ENST00000392312	T;T;T	0.80909	-1.43;-1.43;-1.43	4.07	3.17	0.36434	.	0.199737	0.32624	N	0.005856	T	0.73481	0.3592	L	0.47716	1.5	0.39917	D	0.974101	P	0.47350	0.894	P	0.51701	0.677	T	0.72836	-0.4172	9	.	.	.	-5.185	13.1553	0.59514	0.0:0.0:0.8389:0.1611	.	23	Q99967	CITE2_HUMAN	Y	23	ENSP00000356623:H23Y;ENSP00000442831:H23Y;ENSP00000444198:H23Y	.	H	-	1	0	CITED2	139736708	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.424000	0.52764	1.020000	0.39573	0.462000	0.41574	CAC		0.612	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			30	182	0	0	0	0.008361	0	30	182				
CITED2	10370	broad.mit.edu	37	6	139695043	139695043	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:139695043G>A	ENST00000367651.2	-	2	254	c.39C>T	c.(37-39)ttC>ttT	p.F13F	CITED2_ENST00000536159.1_Silent_p.F13F|CITED2_ENST00000537332.1_Silent_p.F13F	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	13					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.F13F(1)		large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TGCCGTCGGGGAAGCGCCCGT	0.637																																					NSCLC(98;1219 1550 33720 43229 49330)	NSCLC(98;1219 1550 33720 43229 49330)	uc003qip.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)TTC>TTT		Cbp/p300-interacting transactivator, with																																				SO:0001819	synonymous_variant	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139695043G>A	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.39C>T	6.37:g.139695043G>A							p.F13F	NM_006079	NP_006070	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	2	283	-	Breast(32;0.226)		13					O95426|Q5VTF4	Silent	SNP	ENST00000367651.2	37	c.39C>T	CCDS5195.1																																																																																				0.637	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			26	161	0	0	0	0.004656	0	26	161				
FBXO30	84085	broad.mit.edu	37	6	146126130	146126130	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:146126130C>G	ENST00000237281.4	-	2	1578	c.1412G>C	c.(1411-1413)aGt>aCt	p.S471T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	471							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S471T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACCATTGTACTTGTAGCTAA	0.448																																							uc003qla.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1411-1413)AGT>ACT		F-box only protein 30							147.0	142.0	144.0					6																	146126130		2203	4299	6502	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126130C>G	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1412G>C	6.37:g.146126130C>G	ENSP00000237281:p.Ser471Thr					uc003qky.1_Intron	p.S471T	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1611	-		Ovarian(120;0.0776)	471					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.1412G>C	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	7.380	0.628605	0.14257	.	.	ENSG00000118496	ENST00000237281	T	0.42513	0.97	5.96	3.59	0.41128	.	0.217338	0.56097	D	0.000039	T	0.12774	0.0310	L	0.29908	0.895	0.22827	N	0.998684	B	0.06786	0.001	B	0.10450	0.005	T	0.20605	-1.0270	10	0.33141	T	0.24	-12.3252	10.0928	0.42458	0.0:0.1348:0.0:0.8652	.	471	Q8TB52	FBX30_HUMAN	T	471	ENSP00000237281:S471T	ENSP00000237281:S471T	S	-	2	0	FBXO30	146167823	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.681000	0.46926	0.522000	0.28464	-0.238000	0.12139	AGT		0.448	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			12	93	0	0	0	0.001855	0	12	93				
GRM1	2911	broad.mit.edu	37	6	146720217	146720217	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:146720217G>T	ENST00000282753.1	+	7	2277	c.2042G>T	c.(2041-2043)cGt>cTt	p.R681L	GRM1_ENST00000361719.2_Missense_Mutation_p.R681L|GRM1_ENST00000392299.2_Missense_Mutation_p.R681L|GRM1_ENST00000355289.4_Missense_Mutation_p.R681L|GRM1_ENST00000492807.2_Missense_Mutation_p.R681L|GRM1_ENST00000507907.1_Missense_Mutation_p.R681L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	681					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R681L(2)|p.R681H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AAAACCAATCGTATTGCACGC	0.527																																							uc010khw.1		NA																	3	Substitution - Missense(3)		lung(2)|prostate(1)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2041-2043)CGT>CTT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						228.0	218.0	221.0					6																	146720217		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720217G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2042G>T	6.37:g.146720217G>T	ENSP00000282753:p.Arg681Leu					GRM1_uc010khv.1_Missense_Mutation_p.R681L|GRM1_uc003qll.2_Missense_Mutation_p.R681L|GRM1_uc011edz.1_Missense_Mutation_p.R681L|GRM1_uc011eea.1_Missense_Mutation_p.R681L	p.R681L	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2512	+		Ovarian(120;0.0387)	681			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2042G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810221	0.90707	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95637	0.8695	10	0.87932	D	0	.	19.4081	0.94656	0.0:0.0:1.0:0.0	.	681;681;681	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	L	681	ENSP00000354896:R681L;ENSP00000376119:R681L;ENSP00000424095:R681L;ENSP00000282753:R681L;ENSP00000347437:R681L;ENSP00000425599:R681L	ENSP00000282753:R681L	R	+	2	0	GRM1	146761910	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.604000	0.88044	0.585000	0.79938	CGT		0.527	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		29	123	1	0	7.38237e-10	0.00632	1.31448e-09	29	123				
SYNE1	23345	broad.mit.edu	37	6	152720814	152720814	+	Missense_Mutation	SNP	C	C	A	rs146099481		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:152720814C>A	ENST00000367255.5	-	48	7775	c.7174G>T	c.(7174-7176)Gtg>Ttg	p.V2392L	SYNE1_ENST00000423061.1_Missense_Mutation_p.V2399L|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.V2429L|SYNE1_ENST00000265368.4_Missense_Mutation_p.V2392L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V2399L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2392					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.V2392L(2)|p.V2399L(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)		AACTGGCTCACGGCTTCATGT	0.498										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.(7174-7176)GTG>TTG		spectrin repeat containing, nuclear envelope 1							168.0	172.0	171.0					6																	152720814		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.chr6:152720814C>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.7174G>T	6.37:g.152720814C>A	ENSP00000356224:p.Val2392Leu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.V2399L|SYNE1_uc003qou.3_Missense_Mutation_p.V2392L|SYNE1_uc010kjb.1_Missense_Mutation_p.V2375L	p.V2392L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	48	7776	-		Ovarian(120;0.0955)	2392			Spectrin 3.|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.7174G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	7.122	0.578071	0.13686	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.87	2.15	0.27550	.	0.743926	0.12167	N	0.493418	T	0.05090	0.0136	L	0.50333	1.59	0.31570	N	0.656407	B;B;B;B	0.26845	0.079;0.062;0.062;0.161	B;B;B;B	0.29267	0.037;0.02;0.02;0.1	T	0.34875	-0.9811	10	0.25751	T	0.34	.	10.477	0.44670	0.0:0.7423:0.0:0.2577	.	2375;2392;2392;2399	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	2392;2399;2392;2399;2429	ENSP00000356224:V2392L;ENSP00000396024:V2399L;ENSP00000265368:V2392L;ENSP00000390975:V2399L;ENSP00000341887:V2429L	ENSP00000265368:V2392L	V	-	1	0	SYNE1	152762507	0.107000	0.21998	0.060000	0.19600	0.247000	0.25773	1.122000	0.31295	0.111000	0.17947	-0.732000	0.03574	GTG		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		26	127	1	0	4.26978e-12	0.00333	7.96464e-12	26	127				
PDE10A	10846	broad.mit.edu	37	6	165801923	165801923	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:165801923G>T	ENST00000366882.1	-	18	1800	c.1646C>A	c.(1645-1647)gCg>gAg	p.A549E	PDE10A_ENST00000354448.4_Missense_Mutation_p.A549E|PDE10A_ENST00000539869.2_Missense_Mutation_p.A559E			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	549					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.A549E(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)	ACACAGACACGCAATCAGCAG	0.483																																					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.(1645-1647)GCG>GAG		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						126.0	111.0	116.0					6																	165801923		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.chr6:165801923G>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.1646C>A	6.37:g.165801923G>T	ENSP00000355847:p.Ala549Glu					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.A479E|PDE10A_uc003quo.2_Missense_Mutation_p.A559E	p.A549E	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	1887	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	549					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1646C>A		.	.	.	.	.	.	.	.	.	.	G	28.9	4.956871	0.92726	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.87491	-2.26;-2.26	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	0.95017	0.8387	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95118	0.8244	10	0.87932	D	0	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	559;549	Q9ULW9;Q9Y233	.;PDE10_HUMAN	E	549;577;559;549;548	ENSP00000355847:A549E;ENSP00000346435:A549E	ENSP00000341187:A559E	A	-	2	0	PDE10A	165721913	1.000000	0.71417	0.557000	0.28306	0.793000	0.44817	9.113000	0.94321	2.797000	0.96272	0.563000	0.77884	GCG		0.483	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			9	61	1	0	3.09899e-07	0.004482	4.96537e-07	9	61				
TTLL2	83887	broad.mit.edu	37	6	167753613	167753613	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:167753613G>A	ENST00000239587.5	+	3	313	c.225G>A	c.(223-225)gcG>gcA	p.A75A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	75					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.A75A(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATTTGATGGCGGAAGATGAAC	0.507																																							uc003qvs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(223-225)GCG>GCA		tubulin tyrosine ligase-like family, member 2							54.0	58.0	57.0					6																	167753613		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753613G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.225G>A	6.37:g.167753613G>A						TTLL2_uc011egr.1_RNA	p.A75A	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	313	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	75					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.225G>A	CCDS5301.1																																																																																				0.507	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		11	53	0	0	0	0.000978	0	11	53				
FTSJ2	29960	broad.mit.edu	37	7	2279214	2279214	+	Missense_Mutation	SNP	G	G	A	rs150856697		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:2279214G>A	ENST00000242257.8	-	2	165	c.137C>T	c.(136-138)gCt>gTt	p.A46V	NUDT1_ENST00000397046.1_5'Flank|NUDT1_ENST00000397049.1_5'Flank|NUDT1_ENST00000356714.1_5'Flank|NUDT1_ENST00000397048.1_5'Flank|FTSJ2_ENST00000440306.2_Missense_Mutation_p.A46V|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_5'Flank	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)									p.A46V(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CACCTTCGCAGCCTTCACAAA	0.597																																							uc003slm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(136-138)GCT>GTT		FtsJ homolog 2							90.0	86.0	88.0					7																	2279214		2203	4300	6503	SO:0001583	missense	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2279214G>A	AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"""rRNA (uridine-2'-O-)-methyltransferase"", ""MRM2 RNA methyltransferase homolog (S. cerevisiae)"""	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.137C>T	7.37:g.2279214G>A	ENSP00000242257:p.Ala46Val					FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	p.A46V	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	2	166	-		Ovarian(82;0.0253)	46						Missense_Mutation	SNP	ENST00000242257.8	37	c.137C>T	CCDS5328.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130523	0.77549	.	.	ENSG00000122687	ENST00000242257;ENST00000440306	T;T	0.44482	0.92;0.96	5.96	5.96	0.96718	.	0.059585	0.64402	D	0.000003	T	0.48077	0.1480	M	0.83953	2.67	0.48511	D	0.99966	P	0.39376	0.67	B	0.36719	0.231	T	0.55503	-0.8131	10	0.62326	D	0.03	.	13.7849	0.63104	0.0:0.0:0.7323:0.2677	.	46	Q9UI43	RRMJ2_HUMAN	V	46	ENSP00000242257:A46V;ENSP00000392343:A46V	ENSP00000242257:A46V	A	-	2	0	FTSJ2	2245740	1.000000	0.71417	0.990000	0.47175	0.673000	0.39480	6.006000	0.70724	2.832000	0.97577	0.655000	0.94253	GCT		0.597	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060187.1	NM_013393		4	90	0	0	0	0.000602	0	4	90				
EIF2AK1	27102	broad.mit.edu	37	7	6089666	6089666	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:6089666C>G	ENST00000199389.6	-	3	434	c.288G>C	c.(286-288)caG>caC	p.Q96H	RN7SL851P_ENST00000480512.2_RNA|EIF2AK1_ENST00000536084.1_Intron	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	96					negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.Q96H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TGATAAACGTCTGGCAAAGTA	0.318																																							uc003spp.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(286-288)CAG>CAC		eukaryotic translation initiation factor 2-alpha							55.0	52.0	53.0					7																	6089666		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6089666C>G	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.288G>C	7.37:g.6089666C>G	ENSP00000199389:p.Gln96His					EIF2AK1_uc003spq.2_Missense_Mutation_p.Q96H|EIF2AK1_uc011jwm.1_Intron	p.Q96H	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	3	434	-		Ovarian(82;0.0423)	96					A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.288G>C	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.678288	0.47886	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	T;T	0.15017	2.46;2.46	4.96	3.07	0.35406	.	0.114465	0.64402	D	0.000010	T	0.12518	0.0304	L	0.47716	1.5	0.80722	D	1	B;B	0.32781	0.384;0.27	B;B	0.28305	0.088;0.027	T	0.10800	-1.0614	10	0.36615	T	0.2	-11.3577	5.7231	0.17998	0.0:0.6321:0.137:0.231	.	96;96	Q9BQI3-2;Q9BQI3	.;E2AK1_HUMAN	H	96	ENSP00000199389:Q96H;ENSP00000397590:Q96H	ENSP00000199389:Q96H	Q	-	3	2	EIF2AK1	6056192	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	0.835000	0.27531	0.426000	0.26116	0.442000	0.29010	CAG		0.318	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		6	41	0	0	0	0.001984	0	6	41				
DGKB	1607	broad.mit.edu	37	7	14613905	14613905	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:14613905T>C	ENST00000403951.2	-	20	2124	c.1705A>G	c.(1705-1707)Aat>Gat	p.N569D	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.N550D|DGKB_ENST00000399322.3_Missense_Mutation_p.N569D|DGKB_ENST00000402815.1_Missense_Mutation_p.N568D|DGKB_ENST00000406247.3_Missense_Mutation_p.N569D|DGKB_ENST00000258767.5_Missense_Mutation_p.N569D|DGKB_ENST00000407950.1_Missense_Mutation_p.N561D			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	569					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.N569D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TCTTTGTCATTAGGTATGACT	0.378																																							uc003ssz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(1705-1707)AAT>GAT		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						228.0	213.0	218.0					7																	14613905		1897	4114	6011	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14613905T>C	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1705A>G	7.37:g.14613905T>C	ENSP00000385780:p.Asn569Asp					DGKB_uc011jxt.1_Missense_Mutation_p.N550D|DGKB_uc003sta.2_Missense_Mutation_p.N569D|DGKB_uc011jxu.1_Missense_Mutation_p.N568D	p.N569D	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			19	1892	-			569					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1705A>G	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.433833	0.25813	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.54	4.33	0.51752	.	0.368061	0.30193	N	0.010192	T	0.27967	0.0689	N	0.12663	0.25	0.39762	D	0.972043	B;B;B;B	0.09022	0.002;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.11155	-1.0599	10	0.16896	T	0.51	.	12.7152	0.57111	0.0:0.0:0.1371:0.8629	.	568;550;569;569	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	D	569;569;569;568;561;550;569	ENSP00000385780:N569D;ENSP00000382260:N569D;ENSP00000258767:N569D;ENSP00000384909:N568D;ENSP00000385031:N561D;ENSP00000388451:N550D;ENSP00000386066:N569D	ENSP00000258767:N569D	N	-	1	0	DGKB	14580430	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.574000	0.46016	2.099000	0.63709	0.459000	0.35465	AAT		0.378	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		25	122	0	0	0	0.00333	0	25	122				
ABCB5	340273	broad.mit.edu	37	7	20738036	20738036	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:20738036C>A	ENST00000404938.2	+	17	2669	c.2017C>A	c.(2017-2019)Ctt>Att	p.L673I	ABCB5_ENST00000258738.6_Missense_Mutation_p.L228I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	673					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.L673I(1)|p.L228I(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						TTAGATAAGTCTTCCTGAAGT	0.323																																							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.(682-684)CTT>ATT		ATP-binding cassette, sub-family B, member 5							46.0	49.0	48.0					7																	20738036		2202	4294	6496	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.chr7:20738036C>A	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.2017C>A	7.37:g.20738036C>A	ENSP00000384881:p.Leu673Ile					ABCB5_uc010kuh.2_Missense_Mutation_p.L673I	p.L228I	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			8	1228	+			228			Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.682C>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	9.026	0.986038	0.18889	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.86694	-2.14;-2.16	5.55	3.67	0.42095	ABC transporter, transmembrane domain, type 1 (1);	0.110411	0.38111	N	0.001803	T	0.75436	0.3849	N	0.21282	0.65	0.25862	N	0.983818	B;B	0.14438	0.007;0.01	B;B	0.14578	0.011;0.009	T	0.59096	-0.7518	10	0.18276	T	0.48	.	8.8253	0.35052	0.0:0.7621:0.1543:0.0835	.	673;228	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	I	673;228	ENSP00000384881:L673I;ENSP00000258738:L228I	ENSP00000258738:L228I	L	+	1	0	ABCB5	20704561	0.747000	0.28283	0.954000	0.39281	0.626000	0.37791	0.778000	0.26732	1.424000	0.47217	0.591000	0.81541	CTT		0.323	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		7	43	1	0	0.00198382	0.001984	0.00238984	7	43				
ABCB5	340273	broad.mit.edu	37	7	20793064	20793064	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:20793064C>A	ENST00000404938.2	+	27	4163	c.3511C>A	c.(3511-3513)Ctc>Atc	p.L1171I	ABCB5_ENST00000258738.6_Missense_Mutation_p.L726I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1171	ABC transporter 2. {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.L726I(1)|p.L1171I(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						AAGGGCTCTTCTCCAAAAACC	0.408																																							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.(2176-2178)CTC>ATC		ATP-binding cassette, sub-family B, member 5							106.0	107.0	107.0					7																	20793064		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.chr7:20793064C>A	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.3511C>A	7.37:g.20793064C>A	ENSP00000384881:p.Leu1171Ile					ABCB5_uc010kuh.2_Missense_Mutation_p.L1171I	p.L726I	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			18	2722	+			726			Cytoplasmic (Potential).|ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2176C>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	5.000	0.185701	0.09495	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.85013	-1.93;-1.93	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.140354	0.31897	N	0.006894	T	0.76962	0.4061	L	0.45581	1.43	0.35288	D	0.781897	B;B	0.19073	0.033;0.033	B;B	0.22601	0.04;0.04	T	0.70332	-0.4901	10	0.08837	T	0.75	.	8.6012	0.33745	0.1699:0.6659:0.1642:0.0	.	1171;726	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	I	1171;726	ENSP00000384881:L1171I;ENSP00000258738:L726I	ENSP00000258738:L726I	L	+	1	0	ABCB5	20759589	0.174000	0.23070	1.000000	0.80357	0.963000	0.63663	-0.106000	0.10890	2.595000	0.87683	0.555000	0.69702	CTC		0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		9	55	1	0	5.4927e-09	0.004482	9.52628e-09	9	55				
FAM126A	84668	broad.mit.edu	37	7	22985289	22985289	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:22985289T>A	ENST00000432176.2	-	11	1717	c.1485A>T	c.(1483-1485)tcA>tcT	p.S495S	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'Flank	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	495					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.S495S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CAGTTCTTTCTGAAACGTAAA	0.418																																							uc003svm.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1483-1485)TCA>TCT		family with sequence similarity 126, member A							99.0	99.0	99.0					7																	22985289		2203	4299	6502	SO:0001819	synonymous_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985289T>A	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1485A>T	7.37:g.22985289T>A						FAM126A_uc003svn.3_3'UTR	p.S495S	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			11	1740	-			495					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	c.1485A>T	CCDS5377.1																																																																																				0.418	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		20	81	0	0	0	0.001523	0	20	81				
C7orf31	136895	broad.mit.edu	37	7	25194712	25194712	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:25194712C>G	ENST00000409280.1	-	6	821	c.513G>C	c.(511-513)acG>acC	p.T171T	C7orf31_ENST00000283905.3_Silent_p.T171T			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	171								p.T171T(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CTTTAATGCCCGTGTAGAGGT	0.527																																							uc003sxn.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)ACG>ACC		hypothetical protein LOC136895							102.0	105.0	104.0					7																	25194712		2203	4300	6503	SO:0001819	synonymous_variant	136895							g.chr7:25194712C>G	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.513G>C	7.37:g.25194712C>G						C7orf31_uc003sxm.1_Silent_p.T13T	p.T171T	NM_138811	NP_620166	Q8N865	CG031_HUMAN			6	1074	-			171					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	ENST00000409280.1	37	c.513G>C	CCDS5394.1																																																																																				0.527	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		4	30	0	0	0	0.000602	0	4	30				
CPVL	54504	broad.mit.edu	37	7	29070193	29070193	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:29070193C>G	ENST00000409850.1	-	16	1966	c.1320G>C	c.(1318-1320)caG>caC	p.Q440H	CPVL_ENST00000265394.5_Splice_Site_p.Q440H|CPVL_ENST00000396276.3_Splice_Site_p.Q440H			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	440						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.Q440H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATCTTCCTACCTGATGGAAGT	0.473																																							uc003szv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1318-1320)CAG>CAC		serine carboxypeptidase vitellogenic-like							133.0	131.0	132.0					7																	29070193		2203	4300	6503	SO:0001630	splice_region_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29070193C>G	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1320+1G>C	7.37:g.29070193C>G						CPVL_uc003szw.2_Missense_Mutation_p.Q440H|CPVL_uc003szx.2_Missense_Mutation_p.Q440H	p.Q440H	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			12	1439	-			440					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.1320G>C	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.145833|3.145833	0.57044|0.57044	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000432534|ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850	.|T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51143|0.51143	0.1657|0.1657	L|L	0.49455|0.49455	1.56|1.56	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.37731|0.37731	-0.9693|-0.9693	5|9	.|.	.|.	.|.	-6.326|-6.326	18.1656|18.1656	0.89724|0.89724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|440	.|Q9H3G5	.|CPVL_HUMAN	R|H	144|440;440;105;440	.|ENSP00000265394:Q440H;ENSP00000379572:Q440H;ENSP00000403580:Q105H;ENSP00000387164:Q440H	.|.	G|Q	-|-	1|3	0|2	CPVL|CPVL	29036718|29036718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.783000|0.783000	0.44284|0.44284	4.290000|4.290000	0.59019|0.59019	2.575000|2.575000	0.86900|0.86900	0.585000|0.585000	0.79938|0.79938	GGT|CAG		0.473	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	Missense_Mutation	12	129	0	0	0	0.00245	0	12	129				
PDE1C	5137	broad.mit.edu	37	7	31913022	31913022	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:31913022C>A	ENST00000396191.1	-	6	948		c.e6-1		PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000396184.3_Splice_Site	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.?(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGTCCACATCCTGCAGGACAG	0.488																																							uc003tcm.1		NA																	3	Unknown(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.e6-1		phosphodiesterase 1C							75.0	67.0	70.0					7																	31913022		2203	4300	6503	SO:0001630	splice_region_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31913022C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.493-1G>T	7.37:g.31913022C>A						PDE1C_uc003tcn.1_Splice_Site_p.D165_splice|PDE1C_uc003tco.1_Splice_Site_p.D225_splice|PDE1C_uc003tcr.2_Splice_Site_p.D165_splice|PDE1C_uc003tcs.2_Splice_Site_p.D165_splice	p.D165_splice	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		6	962	-								B3KPC6|E9PE92|Q14124|Q8NB10	Splice_Site	SNP	ENST00000396191.1	37	c.493_splice	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406648	0.83230	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5182	0.90942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE1C	31879547	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.786000	0.85741	2.453000	0.82957	0.467000	0.42956	.		0.488	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		Intron	7	25	1	0	8.12818e-05	0.001984	0.000110582	7	25				
PDE1C	5137	broad.mit.edu	37	7	32209517	32209517	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:32209517C>A	ENST00000396193.1	-	3	781	c.188G>T	c.(187-189)gGg>gTg	p.G63V		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.G63V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTTGACATTCCCTGTGAGCCC	0.522																																							uc003tco.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(1)	4						c.(187-189)GGG>GTG		phosphodiesterase 1C							259.0	220.0	232.0					7																	32209517		876	1991	2867	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32209517C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.188G>T	7.37:g.32209517C>A	ENSP00000379496:p.Gly63Val						p.G63V	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		3	782	-			Error:Variant_position_missing_in_Q14123_after_alignment					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396193.1	37	c.188G>T	CCDS55100.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954718	0.53293	.	.	ENSG00000154678	ENST00000396193	T	0.74842	-0.88	5.75	5.75	0.90469	.	.	.	.	.	T	0.57519	0.2059	N	0.19112	0.55	0.80722	D	1	B	0.34103	0.437	B	0.23716	0.048	T	0.62144	-0.6916	9	0.62326	D	0.03	.	12.0984	0.53769	0.0:0.9205:0.0:0.0795	.	63	E9PE92	.	V	63	ENSP00000379496:G63V	ENSP00000379496:G63V	G	-	2	0	PDE1C	32176042	0.949000	0.32298	0.998000	0.56505	0.994000	0.84299	2.666000	0.46799	2.732000	0.93576	0.655000	0.94253	GGG		0.522	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			13	77	1	0	1.61879e-10	0.001368	2.9236e-10	13	77				
DPY19L2P1	554236	broad.mit.edu	37	7	35144292	35144292	+	RNA	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:35144292G>T	ENST00000436258.1	-	0	1774							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TAACACACATGTGCAGCGTCA	0.363																																							uc003teq.1		NA																	0					0						c.(814-816)CAC>CAA		RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2;																																						554236							g.chr7:35144292G>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35144292G>T						DPY19L2P1_uc003tep.1_RNA|DPY19L2P1_uc010kwz.1_RNA	p.H272Q							18	1923	-								B4E2E3	Missense_Mutation	SNP	ENST00000436258.1	37	c.816C>A																																																																																					0.363	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			3	30	1	0	0.004672	0.004672	0.00544907	3	30				
ANLN	54443	broad.mit.edu	37	7	36463494	36463494	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:36463494G>C	ENST00000265748.2	+	15	2766	c.2545G>C	c.(2545-2547)Gca>Cca	p.A849P	ANLN_ENST00000396068.2_Missense_Mutation_p.A812P	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	849	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.A849P(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CACACCATTAGCAAGTACTTC	0.333																																							uc003tff.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2545-2547)GCA>CCA		anillin, actin binding protein							102.0	101.0	102.0					7																	36463494		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36463494G>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2545G>C	7.37:g.36463494G>C	ENSP00000265748:p.Ala849Pro					ANLN_uc011kaz.1_Missense_Mutation_p.A761P|ANLN_uc003tfg.2_Missense_Mutation_p.A812P|ANLN_uc010kxe.2_Missense_Mutation_p.A811P	p.A849P	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			15	2749	+			849			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2545G>C	CCDS5447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.179866|4.179866	0.78564|0.78564	.|.	.|.	ENSG00000011426|ENSG00000011426	ENST00000265748;ENST00000396068|ENST00000446635;ENST00000457743	T;T|.	0.45668|.	0.89;0.89|.	6.08|6.08	5.2|5.2	0.72013|0.72013	.|.	0.097154|.	0.64402|.	D|.	0.000001|.	T|.	0.72748|.	0.3499|.	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D;D|.	0.71674|.	0.998;0.989;0.987;0.989|.	D;D;D;D|.	0.67382|.	0.951;0.951;0.918;0.951|.	T|.	0.72931|.	-0.4142|.	10|.	0.72032|.	D|.	0.01|.	-9.0023|-9.0023	14.2805|14.2805	0.66208|0.66208	0.0705:0.0:0.9295:0.0|0.0705:0.0:0.9295:0.0	.|.	726;811;812;849|.	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6|.	.;.;.;ANLN_HUMAN|.	P|Y	849;812|202;52	ENSP00000265748:A849P;ENSP00000379380:A812P|.	ENSP00000265748:A849P|.	A|X	+|+	1|3	0|2	ANLN|ANLN	36430019|36430019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	5.774000|5.774000	0.68906|0.68906	1.591000|1.591000	0.50007|0.50007	0.655000|0.655000	0.94253|0.94253	GCA|TAG		0.333	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		12	59	0	0	0	0.000978	0	12	59				
NME8	51314	broad.mit.edu	37	7	37890007	37890007	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:37890007G>A	ENST00000199447.4	+	4	433	c.61G>A	c.(61-63)Gat>Aat	p.D21N	NME8_ENST00000440017.1_Missense_Mutation_p.D21N|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	21	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.D21N(1)									AAGCCTGTGGGATGAGATGTT	0.493																																						Ovarian(108;903 1537 27096 29907 47400)	uc003tfn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(61-63)GAT>AAT		thioredoxin domain containing 3							177.0	177.0	177.0					7																	37890007		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37890007G>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.61G>A	7.37:g.37890007G>A	ENSP00000199447:p.Asp21Asn						p.D21N	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			4	433	+			21			Thioredoxin.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.61G>A	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897024	0.72639	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.22743	1.94;1.94	5.12	4.24	0.50183	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.111995	0.40385	N	0.001107	T	0.28699	0.0711	M	0.64997	1.995	0.40778	D	0.983144	P	0.42908	0.793	P	0.46885	0.53	T	0.05750	-1.0866	10	0.72032	D	0.01	-32.6316	10.1901	0.43021	0.0933:0.0:0.9066:0.0	.	21	Q8N427	TXND3_HUMAN	N	21	ENSP00000199447:D21N;ENSP00000397063:D21N	ENSP00000199447:D21N	D	+	1	0	TXNDC3	37856532	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	4.607000	0.61133	2.395000	0.81488	0.561000	0.74099	GAT		0.493	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		26	116	0	0	0	0.005443	0	26	116				
AMPH	273	broad.mit.edu	37	7	38530667	38530667	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:38530667G>C	ENST00000356264.2	-	5	594	c.379C>G	c.(379-381)Caa>Gaa	p.Q127E	AMPH_ENST00000325590.5_Missense_Mutation_p.Q127E|AMPH_ENST00000428293.2_Missense_Mutation_p.Q127E	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	127	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.Q127E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCAGGAAATTGCCCCAGGTAG	0.403																																							uc003tgu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(379-381)CAA>GAA		amphiphysin isoform 1							164.0	163.0	163.0					7																	38530667		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38530667G>C		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.379C>G	7.37:g.38530667G>C	ENSP00000348602:p.Gln127Glu					AMPH_uc003tgv.2_Missense_Mutation_p.Q127E	p.Q127E	NM_001635	NP_001626	P49418	AMPH_HUMAN			5	448	-			127			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.379C>G	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494612	0.85069	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.60548	0.18;0.18;0.18	5.36	5.36	0.76844	BAR (3);	0.119302	0.56097	D	0.000021	T	0.72277	0.3440	M	0.87971	2.92	0.80722	D	1	P;D	0.59767	0.928;0.986	B;P	0.50270	0.417;0.636	T	0.78301	-0.2257	10	0.56958	D	0.05	-20.6131	17.8497	0.88742	0.0:0.0:1.0:0.0	.	127;127	P49418-2;P49418	.;AMPH_HUMAN	E	127	ENSP00000317441:Q127E;ENSP00000348602:Q127E;ENSP00000390734:Q127E	ENSP00000317441:Q127E	Q	-	1	0	AMPH	38497192	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.531000	0.90610	2.512000	0.84698	0.460000	0.39030	CAA		0.403	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		22	145	0	0	0	0.00278	0	22	145				
GLI3	2737	broad.mit.edu	37	7	42005086	42005086	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:42005086G>A	ENST00000395925.3	-	15	3669	c.3585C>T	c.(3583-3585)aaC>aaT	p.N1195N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1195					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N1195N(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGACCATGCCGTTGCAGAACC	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3583-3585)AAC>AAT		GLI-Kruppel family member GLI3							59.0	70.0	66.0					7																	42005086		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005086G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3585C>T	7.37:g.42005086G>A						GLI3_uc011kbg.1_Silent_p.N1136N	p.N1195N	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3676	-			1195					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3585C>T	CCDS5465.1																																																																																				0.667	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		8	104	0	0	0	0.004482	0	8	104				
SPDYE1	285955	broad.mit.edu	37	7	44046939	44046939	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:44046939G>A	ENST00000258704.3	+	5	842	c.705G>A	c.(703-705)aaG>aaA	p.K235K	RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	235								p.K235K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TGTATGGGAAGAACCGCTCTC	0.542																																							uc003tjf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(703-705)AAG>AAA		Williams Beuren syndrome chromosome region 19							148.0	149.0	149.0					7																	44046939		2203	4300	6503	SO:0001819	synonymous_variant	285955							g.chr7:44046939G>A	AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.705G>A	7.37:g.44046939G>A						POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.2_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.3_Intron|uc003tjg.1_Intron	p.K235K	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN			5	841	+			235					Q9NTH5	Silent	SNP	ENST00000258704.3	37	c.705G>A	CCDS5475.1																																																																																				0.542	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		24	158	0	0	0	0.00333	0	24	158				
ZMIZ2	83637	broad.mit.edu	37	7	44801092	44801092	+	Missense_Mutation	SNP	G	G	T	rs373218484		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:44801092G>T	ENST00000309315.4	+	10	1408	c.1285G>T	c.(1285-1287)Gat>Tat	p.D429Y	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.D403Y|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.D429Y|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.D397Y|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.D371Y	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	429					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.D429Y(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTGTGCGCGATGGGGTGGT	0.612																																					NSCLC(20;604 852 1948 16908 50522)	NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1285-1287)GAT>TAT		zinc finger, MIZ-type containing 2 isoform 1							59.0	70.0	66.0					7																	44801092		2202	4300	6502	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44801092G>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1285G>T	7.37:g.44801092G>T	ENSP00000311778:p.Asp429Tyr					ZMIZ2_uc003tlq.2_Missense_Mutation_p.D371Y|ZMIZ2_uc003tls.2_Missense_Mutation_p.D403Y|ZMIZ2_uc003tlt.2_Missense_Mutation_p.D52Y|ZMIZ2_uc010kyj.2_5'UTR	p.D429Y	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			10	1408	+			429					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1285G>T	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123782	0.94429	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000008	T	0.68540	0.3012	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69978	-0.4998	10	0.51188	T	0.08	-5.8156	17.8945	0.88883	0.0:0.0:1.0:0.0	.	403;429;371	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	Y	371;429;429;397;403;429	ENSP00000409648:D371Y;ENSP00000311778:D429Y;ENSP00000414723:D429Y;ENSP00000396601:D397Y;ENSP00000265346:D403Y	ENSP00000265346:D403Y	D	+	1	0	ZMIZ2	44767617	1.000000	0.71417	0.634000	0.29324	0.966000	0.64601	9.113000	0.94321	2.547000	0.85894	0.655000	0.94253	GAT		0.612	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		11	38	1	0	5.16669e-11	0.000978	9.4667e-11	11	38				
SUN3	256979	broad.mit.edu	37	7	48068523	48068523	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:48068523T>A	ENST00000297325.4	-	1	172	c.13A>T	c.(13-15)Aca>Tca	p.T5S	SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.T5S|SUN3_ENST00000412142.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	5						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.T5A(1)|p.T5S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGCCTTTGTTTTTCCACTC	0.433																																							uc003tof.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(1)	1						c.(13-15)ACA>TCA		Sad1 and UNC84 domain containing 1							121.0	114.0	117.0					7																	48068523		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48068523T>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.13A>T	7.37:g.48068523T>A	ENSP00000297325:p.Thr5Ser					SUN3_uc003tog.2_Missense_Mutation_p.T5S|SUN3_uc011kcf.1_5'UTR	p.T5S	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			2	110	-			5					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.13A>T	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	T	8.191	0.795951	0.16327	.	.	ENSG00000164744	ENST00000297325;ENST00000395572	T;T	0.22134	1.97;1.97	4.05	-1.79	0.07932	.	1.288690	0.05484	N	0.555320	T	0.09774	0.0240	N	0.03608	-0.345	0.09310	N	0.999999	B	0.13594	0.008	B	0.12156	0.007	T	0.35151	-0.9800	10	0.41790	T	0.15	-10.0057	8.0055	0.30323	0.0:0.3117:0.1936:0.4948	.	5	Q8TAQ9	SUN3_HUMAN	S	5	ENSP00000297325:T5S;ENSP00000378939:T5S	ENSP00000297325:T5S	T	-	1	0	SUN3	48035048	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.443000	0.06862	-0.724000	0.04908	-1.937000	0.00501	ACA		0.433	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		14	51	0	0	0	0.003163	0	14	51				
UPP1	7378	broad.mit.edu	37	7	48142961	48142961	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:48142961G>T	ENST00000331803.4	+	7	1012	c.389G>T	c.(388-390)cGg>cTg	p.R130L	UPP1_ENST00000429491.2_Intron|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.R130L|UPP1_ENST00000341253.4_Missense_Mutation_p.R130L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	130					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.R130L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	TACTATGCCCGGTGCTCCAAC	0.522																																							uc003toj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(388-390)CGG>CTG		uridine phosphorylase 1							195.0	163.0	174.0					7																	48142961		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48142961G>T	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.389G>T	7.37:g.48142961G>T	ENSP00000330032:p.Arg130Leu					UPP1_uc003tok.2_Missense_Mutation_p.R130L|UPP1_uc003tol.2_Missense_Mutation_p.R130L|UPP1_uc011kcg.1_Missense_Mutation_p.R130L|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron	p.R130L	NM_181597	NP_853628	Q16831	UPP1_HUMAN			7	918	+			130					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.389G>T	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335521	0.41398	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.43	1.08	0.20341	Nucleoside phosphorylase domain (1);	0.491473	0.21862	N	0.068001	T	0.37972	0.1023	M	0.66939	2.045	0.26605	N	0.972946	P;B	0.45240	0.854;0.111	B;B	0.41946	0.371;0.073	T	0.29610	-1.0006	10	0.59425	D	0.04	-15.333	6.6079	0.22735	0.6192:0.0:0.3808:0.0	.	130;130	B4DND0;Q16831	.;UPP1_HUMAN	L	130	ENSP00000405209:R130L;ENSP00000330032:R130L;ENSP00000342878:R130L;ENSP00000378931:R130L;ENSP00000390118:R130L	ENSP00000330032:R130L	R	+	2	0	UPP1	48109486	0.009000	0.17119	0.013000	0.15412	0.791000	0.44710	1.543000	0.36147	0.282000	0.22254	0.563000	0.77884	CGG		0.522	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		12	74	1	0	0.000219431	0.00245	0.000293264	12	74				
POM121L12	285877	broad.mit.edu	37	7	53103455	53103455	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:53103455G>T	ENST00000408890.4	+	1	107	c.91G>T	c.(91-93)Gct>Tct	p.A31S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	31								p.A31S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCTGGCGGCTCCCATGAG	0.687																																							uc003tpz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GCT>TCT		POM121 membrane glycoprotein-like 12							19.0	25.0	23.0					7																	53103455		2040	4173	6213	SO:0001583	missense	285877							g.chr7:53103455G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.91G>T	7.37:g.53103455G>T	ENSP00000386133:p.Ala31Ser						p.A31S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	107	+			31					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.91G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668411	0.29604	.	.	ENSG00000221900	ENST00000408890	T	0.23147	1.92	1.94	1.94	0.25998	.	.	.	.	.	T	0.28167	0.0695	N	0.22421	0.69	0.09310	N	1	D	0.64830	0.994	D	0.63488	0.915	T	0.12708	-1.0537	9	0.24483	T	0.36	.	7.3783	0.26841	0.0:0.0:1.0:0.0	.	31	Q8N7R1	P1L12_HUMAN	S	31	ENSP00000386133:A31S	ENSP00000386133:A31S	A	+	1	0	POM121L12	53070949	0.001000	0.12720	0.002000	0.10522	0.040000	0.13550	0.587000	0.23909	1.412000	0.46977	0.462000	0.41574	GCT		0.687	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		5	25	1	0	0.000602214	0.000602	0.000754262	5	25				
HGF	3082	broad.mit.edu	37	7	81334976	81334976	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:81334976C>A	ENST00000222390.5	-	16	2077	c.1851G>T	c.(1849-1851)tgG>tgT	p.W617C	HGF_ENST00000457544.2_Missense_Mutation_p.W612C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	617	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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.W617C(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						CAGTGTAGCCCCAGCCATAAA	0.353																																							uc003uhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1849-1851)TGG>TGT		hepatocyte growth factor isoform 1							92.0	84.0	87.0					7																	81334976		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81334976C>A		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.1851G>T	7.37:g.81334976C>A	ENSP00000222390:p.Trp617Cys					HGF_uc003uhm.2_Missense_Mutation_p.W612C	p.W617C	NM_000601	NP_000592	P14210	HGF_HUMAN			16	2016	-			617			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1851G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505692	0.64410	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.87179	-2.22;-2.22	4.74	4.74	0.60224	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97255	0.9900	10	0.87932	D	0	.	17.0863	0.86611	0.0:1.0:0.0:0.0	.	612;617	P14210-3;P14210	.;HGF_HUMAN	C	617;612	ENSP00000222390:W617C;ENSP00000391238:W612C	ENSP00000222390:W617C	W	-	3	0	HGF	81172912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.800000	0.69108	2.331000	0.79229	0.585000	0.79938	TGG		0.353	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		4	56	1	0	0.00024832	0.000248	0.000325365	4	56				
CACNA2D1	781	broad.mit.edu	37	7	81588610	81588610	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:81588610C>A	ENST00000356253.5	-	38	3431	c.3176G>T	c.(3175-3177)tGc>tTc	p.C1059F	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.C1047F|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C259F			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1059					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.C1047F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTTATCAAAGCAGACATCAGG	0.373																																							uc003uhr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(3139-3141)TGC>TTC		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						115.0	103.0	107.0					7																	81588610		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81588610C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3176G>T	7.37:g.81588610C>A	ENSP00000348589:p.Cys1059Phe					CACNA2D1_uc011kgy.1_Missense_Mutation_p.C259F	p.C1047F	NM_000722	NP_000713	P54289	CA2D1_HUMAN			38	3396	-			1059			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.3140G>T		.	.	.	.	.	.	.	.	.	.	C	23.8	4.454105	0.84209	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	D;D;D	0.86432	-2.12;-2.12;-2.12	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93885	0.7174	10	0.87932	D	0	-12.8386	20.1393	0.98055	0.0:1.0:0.0:0.0	.	259;1047	B7Z658;P54289-2	.;.	F	1047;1066;1059;259	ENSP00000349320:C1047F;ENSP00000348589:C1059F;ENSP00000443124:C259F	ENSP00000284088:C1066F	C	-	2	0	CACNA2D1	81426546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.287000	0.78681	2.759000	0.94783	0.563000	0.77884	TGC		0.373	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				6	60	1	0	8.12818e-05	0.001984	0.000110582	6	60				
CACNA2D1	781	broad.mit.edu	37	7	81589101	81589101	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:81589101A>G	ENST00000356253.5	-	37	3302	c.3047T>C	c.(3046-3048)aTa>aCa	p.I1016T	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.I1004T|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.I216T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1016					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I1004T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCAACCATTATGAATATTAA	0.363																																							uc003uhr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(3010-3012)ATA>ACA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						96.0	85.0	89.0					7																	81589101		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81589101A>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3047T>C	7.37:g.81589101A>G	ENSP00000348589:p.Ile1016Thr					CACNA2D1_uc011kgy.1_Missense_Mutation_p.I216T	p.I1004T	NM_000722	NP_000713	P54289	CA2D1_HUMAN			37	3267	-			1016			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.3011T>C		.	.	.	.	.	.	.	.	.	.	A	15.98	2.994072	0.54041	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.54675	0.56;0.56;0.56	5.46	4.29	0.51040	.	0.126528	0.53938	D	0.000043	T	0.68044	0.2958	M	0.68317	2.08	0.36854	D	0.888072	D;P	0.76494	0.999;0.936	D;P	0.71414	0.973;0.811	T	0.74858	-0.3521	10	0.87932	D	0	-20.6318	11.7658	0.51930	0.868:0.0:0.0:0.132	.	216;1004	B7Z658;P54289-2	.;.	T	1004;1023;1016;216	ENSP00000349320:I1004T;ENSP00000348589:I1016T;ENSP00000443124:I216T	ENSP00000284088:I1023T	I	-	2	0	CACNA2D1	81427037	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	8.730000	0.91510	0.879000	0.35944	-0.344000	0.07964	ATA		0.363	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				6	35	0	0	0	0.001984	0	6	35				
ZNF804B	219578	broad.mit.edu	37	7	88965207	88965207	+	Missense_Mutation	SNP	G	G	C	rs141578416		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:88965207G>C	ENST00000333190.4	+	4	3520	c.2911G>C	c.(2911-2913)Ggc>Cgc	p.G971R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	971							metal ion binding (GO:0046872)	p.G971R(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGCACCATCAGGCTGTAACAG	0.403										HNSCC(36;0.09)																													uc011khi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2911-2913)GGC>CGC		zinc finger protein 804B		G	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	110.0	110.0	110.0		2911	-0.0	0.0	7	dbSNP_134	110	0,8600		0,0,4300	no	missense	ZNF804B	NM_181646.2	125	0,2,6501	CC,CG,GG		0.0,0.0454,0.0154	possibly-damaging	971/1350	88965207	2,13004	2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965207G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2911G>C	7.37:g.88965207G>C	ENSP00000329638:p.Gly971Arg	HNSCC(36;0.09)					p.G971R	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3449	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		971					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2911G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	1.739	-0.492291	0.04322	4.54E-4	0.0	ENSG00000182348	ENST00000333190	T	0.04809	3.55	5.0	-0.0274	0.13927	.	0.669098	0.14559	N	0.312174	T	0.02571	0.0078	N	0.17082	0.46	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.43814	-0.9368	10	0.32370	T	0.25	-0.0365	2.3841	0.04361	0.2663:0.1194:0.4918:0.1226	.	971	A4D1E1	Z804B_HUMAN	R	971	ENSP00000329638:G971R	ENSP00000329638:G971R	G	+	1	0	ZNF804B	88803143	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.106000	0.15354	0.047000	0.15862	0.655000	0.94253	GGC		0.403	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		4	92	0	0	0	0.000248	0	4	92				
HEPACAM2	253012	broad.mit.edu	37	7	92838067	92838067	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:92838067A>T	ENST00000394468.2	-	4	915	c.838T>A	c.(838-840)Tac>Aac	p.Y280N	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.Y268N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.Y268N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.Y303N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	280	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.Y280N(1)|p.Y268N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATCCAGGAGTAGGTGTTGGGG	0.438																																							uc003umm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|kidney(1)	5						c.(838-840)TAC>AAC		HEPACAM family member 2 isoform 1							139.0	132.0	135.0					7																	92838067		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92838067A>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.838T>A	7.37:g.92838067A>T	ENSP00000377980:p.Tyr280Asn					HEPACAM2_uc003uml.2_Missense_Mutation_p.Y268N|HEPACAM2_uc010lff.2_Missense_Mutation_p.Y268N|HEPACAM2_uc011khy.1_Missense_Mutation_p.Y303N	p.Y280N	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			4	861	-			280			Ig-like C2-type 2.|Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.838T>A	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343331	0.82022	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.23	5.23	0.72850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.120685	0.64402	D	0.000019	T	0.26810	0.0656	L	0.29908	0.895	0.50039	D	0.999847	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.77004	0.989;0.972;0.985;0.937	T	0.02064	-1.1220	10	0.72032	D	0.01	-15.7786	15.8314	0.78757	1.0:0.0:0.0:0.0	.	303;268;280;268	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	N	280;268;268;303	ENSP00000377980:Y280N;ENSP00000340532:Y268N;ENSP00000389592:Y268N;ENSP00000390204:Y303N	ENSP00000340532:Y268N	Y	-	1	0	HEPACAM2	92676003	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.147000	0.89628	2.279000	0.76181	0.533000	0.62120	TAC		0.438	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		16	47	0	0	0	0.003163	0	16	47				
NYAP1	222950	broad.mit.edu	37	7	100086049	100086049	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100086049T>C	ENST00000300179.2	+	4	864	c.705T>C	c.(703-705)gcT>gcC	p.A235A	NYAP1_ENST00000423930.1_Silent_p.A235A|NYAP1_ENST00000454988.1_Silent_p.A178A	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	235					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.A235A(1)									GAGGCCTGGCTGGGCCCCCTC	0.637																																							uc003uvd.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(703-705)GCT>GCC		hypothetical protein FLJ37538							20.0	27.0	24.0					7																	100086049		2171	4236	6407	SO:0001819	synonymous_variant	222950							g.chr7:100086049T>C	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.705T>C	7.37:g.100086049T>C						C7orf51_uc003uve.1_Silent_p.A17A	p.A235A	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			4	864	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		235					Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	c.705T>C	CCDS5696.1																																																																																				0.637	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		9	29	0	0	0	0.008291	0	9	29				
ZAN	7455	broad.mit.edu	37	7	100352909	100352909	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100352909C>A	ENST00000348028.3	+	0	3350				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1062H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCAAGAGCCCCAGGCCTAGC	0.567																																							uc003uwj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(3184-3186)CCC>CAC		zonadhesin isoform 3							133.0	139.0	137.0					7																	100352909		1943	4131	6074			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352909C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352909C>A						ZAN_uc003uwk.2_Missense_Mutation_p.P1062H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.P1062H	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		15	3350	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1062			TIL 1.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.3185C>A		.	.	.	.	.	.	.	.	.	.	c	13.94	2.386625	0.42308	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.80033	-1.33;-1.33;-1.33	5.13	3.11	0.35812	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.178690	0.27323	N	0.019883	D	0.89015	0.6595	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.98;0.989	D	0.89777	0.3958	10	0.66056	D	0.02	.	11.0684	0.47989	0.0:0.6347:0.3653:0.0	.	1062;1062	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	1062	ENSP00000445943:P1062H;ENSP00000445091:P1062H;ENSP00000444427:P1062H	ENSP00000423579:P1062H	P	+	2	0	ZAN	100190845	0.616000	0.27035	0.479000	0.27329	0.176000	0.22953	1.277000	0.33167	1.428000	0.47296	0.651000	0.88453	CCC		0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		8	122	1	0	0.000157383	0.00308	0.000211083	8	122				
MUC17	140453	broad.mit.edu	37	7	100677732	100677732	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100677732C>A	ENST00000306151.4	+	3	3099	c.3035C>A	c.(3034-3036)aCt>aAt	p.T1012N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1012	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T1012N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACTCCAACACTCCTTTGACC	0.507																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3034-3036)ACT>AAT		mucin 17 precursor							431.0	351.0	378.0					7																	100677732		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677732C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3035C>A	7.37:g.100677732C>A	ENSP00000302716:p.Thr1012Asn					MUC17_uc010lho.1_RNA	p.T1012N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3088	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1012			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3035C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.457	-0.325068	0.05350	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	0.74	0.74	0.18330	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.51529	-0.8694	9	0.38643	T	0.18	.	7.4353	0.27152	0.0:1.0:0.0:0.0	.	1012	Q685J3	MUC17_HUMAN	N	1012	ENSP00000302716:T1012N	ENSP00000302716:T1012N	T	+	2	0	MUC17	100464452	0.007000	0.16637	0.001000	0.08648	0.005000	0.04900	1.328000	0.33758	0.720000	0.32209	0.134000	0.15878	ACT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		22	259	1	0	1.87028e-06	0.001882	2.89855e-06	22	259				
MUC17	140453	broad.mit.edu	37	7	100684017	100684017	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100684017T>A	ENST00000306151.4	+	3	9384	c.9320T>A	c.(9319-9321)tTa>tAa	p.L3107*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3107	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L3107*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACTCCATTAACAGGTGTG	0.493																																							uc003uxp.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9319-9321)TTA>TAA		mucin 17 precursor							273.0	277.0	275.0					7																	100684017		2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684017T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9320T>A	7.37:g.100684017T>A	ENSP00000302716:p.Leu3107*					MUC17_uc010lho.1_RNA	p.L3107*	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9373	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3107			Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.9320T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	48	14.146577	0.99781	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.15	0.131	0.14755	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	3.9219	0.09247	0.0:0.5215:0.0:0.4785	.	.	.	.	X	3107	.	ENSP00000302716:L3107X	L	+	2	0	MUC17	100470737	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.371000	0.01074	0.055000	0.16094	0.102000	0.15555	TTA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		37	237	0	0	0	0.00874	0	37	237				
PLOD3	8985	broad.mit.edu	37	7	100850973	100850973	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100850973C>A	ENST00000223127.3	-	17	2219	c.1821G>T	c.(1819-1821)gtG>gtT	p.V607V		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	607					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.V607V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCACGGTGGGCACATTCTCGT	0.672																																							uc003uyd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1819-1821)GTG>GTT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						117.0	89.0	99.0					7																	100850973		2203	4300	6503	SO:0001819	synonymous_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100850973C>A	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1821G>T	7.37:g.100850973C>A						PLOD3_uc010lhs.2_Silent_p.V172V	p.V607V	NM_001084	NP_001075	O60568	PLOD3_HUMAN			17	2277	-	Lung NSC(181;0.168)|all_lung(186;0.215)		607					B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	c.1821G>T	CCDS5715.1																																																																																				0.672	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			4	31	1	0	2.56e-06	0.000248	3.89312e-06	4	31				
DPY19L2P2	349152	broad.mit.edu	37	7	102825936	102825936	+	RNA	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:102825936G>C	ENST00000312132.4	-	0	3761							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATGAAGTGTAGACAGCTTGAC	0.388																																							uc003vbh.3		NA																	0					0						c.(1057-1059)GTC>GTG		RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2;																																						349152							g.chr7:102825936G>C	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825936G>C						DPY19L2P2_uc003vbg.3_RNA|DPY19L2P2_uc010lit.2_RNA	p.V353V	NR_003561						20	3250	-								Q8N9V4|Q8ND62	Silent	SNP	ENST00000312132.4	37	c.1059C>G																																																																																					0.388	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		8	19	0	0	0	0.006214	0	8	19				
RELN	5649	broad.mit.edu	37	7	103244895	103244895	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:103244895T>A	ENST00000428762.1	-	23	3203	c.3044A>T	c.(3043-3045)tAt>tTt	p.Y1015F	RELN_ENST00000424685.2_Missense_Mutation_p.Y1015F|RELN_ENST00000343529.5_Missense_Mutation_p.Y1015F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1015					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.Y1015F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGTGTAATAGCTCTGGCT	0.493																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3043-3045)TAT>TTT		reelin isoform a							143.0	112.0	122.0					7																	103244895		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103244895T>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3044A>T	7.37:g.103244895T>A	ENSP00000392423:p.Tyr1015Phe					RELN_uc010liz.2_Missense_Mutation_p.Y1015F	p.Y1015F	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	23	3204	-			1015					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3044A>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041396	0.75732	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22743	1.94;1.94;1.94	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	N	0.25647	0.755	0.54753	D	0.999987	D;D	0.64830	0.994;0.982	P;D	0.67548	0.672;0.952	T	0.04386	-1.0955	10	0.42905	T	0.14	.	15.9736	0.80040	0.0:0.0:0.0:1.0	.	1015;1015	P78509-2;P78509	.;RELN_HUMAN	F	1015	ENSP00000392423:Y1015F;ENSP00000345694:Y1015F;ENSP00000388446:Y1015F	ENSP00000345694:Y1015F	Y	-	2	0	RELN	103032131	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.698000	0.84413	2.165000	0.68154	0.533000	0.62120	TAT		0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	51	0	0	0	0.00308	0	7	51				
PIK3CG	5294	broad.mit.edu	37	7	106508290	106508290	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:106508290A>T	ENST00000359195.3	+	2	594	c.284A>T	c.(283-285)cAc>cTc	p.H95L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.H95L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H95L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	95	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H95L(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGACCGCATCACTTCCTCCTG	0.632																																							uc003vdv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(283-285)CAC>CTC		phosphoinositide-3-kinase, catalytic, gamma							24.0	26.0	25.0					7																	106508290		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508290A>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.284A>T	7.37:g.106508290A>T	ENSP00000352121:p.His95Leu					PIK3CG_uc003vdu.2_Missense_Mutation_p.H95L|PIK3CG_uc003vdw.2_Missense_Mutation_p.H95L	p.H95L	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	369	+			95					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.284A>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317970	0.23994	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69175	-0.38;-0.38;-0.38	5.64	4.49	0.54785	.	0.292500	0.44097	D	0.000499	T	0.44008	0.1273	N	0.08118	0	0.29460	N	0.857855	B	0.09022	0.002	B	0.11329	0.006	T	0.30736	-0.9968	10	0.18710	T	0.47	-17.8064	11.6253	0.51142	0.9303:0.0:0.0696:0.0	.	95	P48736	PK3CG_HUMAN	L	95	ENSP00000392258:H95L;ENSP00000419260:H95L;ENSP00000352121:H95L	ENSP00000352121:H95L	H	+	2	0	PIK3CG	106295526	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	5.999000	0.70665	1.075000	0.40932	0.455000	0.32223	CAC		0.632	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			8	32	0	0	0	0.004482	0	8	32				
LAMB1	3912	broad.mit.edu	37	7	107580556	107580556	+	Silent	SNP	G	G	T	rs141885441		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:107580556G>T	ENST00000222399.6	-	25	3869	c.3639C>A	c.(3637-3639)atC>atA	p.I1213I	LAMB1_ENST00000474380.1_5'Flank|CTB-13F3.1_ENST00000608515.1_RNA|LAMB1_ENST00000393561.1_Silent_p.I1237I	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1213	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.I1213I(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGTAAGGCCCGATCACACCAC	0.537																																							uc003vew.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(3637-3639)ATC>ATA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						156.0	121.0	133.0					7																	107580556		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107580556G>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3639C>A	7.37:g.107580556G>T						LAMB1_uc003vev.2_Silent_p.I1237I	p.I1213I	NM_002291	NP_002282	P07942	LAMB1_HUMAN			25	3974	-			1213			Domain II.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.3639C>A	CCDS5750.1																																																																																				0.537	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		11	85	1	0	6.40141e-05	0.000978	8.8683e-05	11	85				
TFEC	22797	broad.mit.edu	37	7	115580691	115580691	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:115580691G>T	ENST00000265440.7	-	8	1138	c.958C>A	c.(958-960)Cct>Act	p.P320T	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.P291T|TFEC_ENST00000457268.1_Missense_Mutation_p.P253T	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	320	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P320T(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GATAGCAGAGGATCTGTTCCA	0.403																																							uc003vhj.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(958-960)CCT>ACT		transcription factor EC isoform a							144.0	125.0	131.0					7																	115580691		2203	4300	6503	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580691G>T	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.958C>A	7.37:g.115580691G>T	ENSP00000265440:p.Pro320Thr					TFEC_uc003vhk.1_Missense_Mutation_p.P291T|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR	p.P320T	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	1142	-			320			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.958C>A	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686766	0.88639	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	D;D;D	0.90620	-2.7;-2.7;-2.7	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96247	0.8776	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96533	0.9394	10	0.66056	D	0.02	-15.0375	19.2751	0.94029	0.0:0.0:1.0:0.0	.	291;320	O14948-2;O14948	.;TFEC_HUMAN	T	320;253;291	ENSP00000265440:P320T;ENSP00000387650:P253T;ENSP00000318676:P291T	ENSP00000265440:P320T	P	-	1	0	TFEC	115367927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.415000	0.80131	2.559000	0.86315	0.650000	0.86243	CCT		0.403	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		14	77	1	0	0.00185496	0.001855	0.00226098	14	77				
ST7	7982	broad.mit.edu	37	7	116869863	116869863	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:116869863G>T	ENST00000393446.2	+	14	1827	c.1524G>T	c.(1522-1524)gtG>gtT	p.V508V	ST7_ENST00000432298.1_Silent_p.V516V|ST7_ENST00000393447.4_Silent_p.V519V|ST7_ENST00000393451.3_Silent_p.V539V|ST7_ENST00000393443.1_Silent_p.V484V|ST7_ENST00000393444.3_Silent_p.V496V|ST7_ENST00000323984.3_Silent_p.V562V|ST7_ENST00000422922.1_Silent_p.V493V|ST7_ENST00000393449.1_Silent_p.V557V			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGGAGAAAGTGGAGAGCATCC	0.522																																							uc011knn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1390-1392)GGA>TGA		suppression of tumorigenicity 7 isoform b							244.0	233.0	237.0					7																	116869863		2203	4300	6503	SO:0001819	synonymous_variant	7982					integral to membrane	binding	g.chr7:116869863G>T	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1524G>T	7.37:g.116869863G>T						ST7_uc003vio.2_Silent_p.V539V|ST7_uc003viq.2_Silent_p.V516V|ST7_uc011knm.1_Silent_p.V519V|ST7_uc003vir.2_Silent_p.V482V	p.G464*	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1395	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Nonsense_Mutation	SNP	ENST00000393446.2	37	c.1390G>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.372684	0.82573	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	.	.	.	5.4	-1.57	0.08506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	2.0034	0.03472	0.1697:0.2126:0.4024:0.2153	.	.	.	.	X	462;464	.	ENSP00000402934:G462X	G	+	1	0	ST7	116657099	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	0.962000	0.29280	0.016000	0.14998	0.563000	0.77884	GGA		0.522	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		41	193	1	0	3.56509e-09	0.002852	6.24027e-09	41	193				
ASZ1	136991	broad.mit.edu	37	7	117067454	117067454	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:117067454C>T	ENST00000284629.2	-	1	123	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.E21K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CCATCATCCTCGCTCTCGCTA	0.672											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003vjb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(61-63)GAG>AAG		ankyrin repeat, SAM and basic leucine zipper							85.0	77.0	80.0					7																	117067454		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067454C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.61G>A	7.37:g.117067454C>T	ENSP00000284629:p.Glu21Lys		OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478	ASZ1_uc011kno.1_Missense_Mutation_p.E21K|ASZ1_uc011knp.1_5'UTR	p.E21K	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		1	124	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		21						Missense_Mutation	SNP	ENST00000284629.2	37	c.61G>A	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015627	0.93404	.	.	ENSG00000154438	ENST00000284629	T	0.67345	-0.26	5.14	5.14	0.70334	.	0.246043	0.39615	N	0.001301	T	0.61702	0.2368	M	0.72118	2.19	0.37378	D	0.911923	P;P	0.50819	0.939;0.939	B;B	0.34346	0.18;0.18	T	0.71461	-0.4586	10	0.37606	T	0.19	-19.4763	16.4814	0.84158	0.0:1.0:0.0:0.0	.	21;21	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	K	21	ENSP00000284629:E21K	ENSP00000284629:E21K	E	-	1	0	ASZ1	116854690	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.807000	0.55591	2.829000	0.97493	0.655000	0.94253	GAG		0.672	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		5	49	0	0	0	0.000602	0	5	49				
PTPRZ1	5803	broad.mit.edu	37	7	121612652	121612652	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:121612652T>A	ENST00000393386.2	+	4	773	c.362T>A	c.(361-363)tTt>tAt	p.F121Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F121Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	121	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.F121Y(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAAATGGTGTTTAAAGCAAGC	0.358																																							uc003vjy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(361-363)TTT>TAT		protein tyrosine phosphatase, receptor-type,							135.0	129.0	131.0					7																	121612652		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121612652T>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.362T>A	7.37:g.121612652T>A	ENSP00000377047:p.Phe121Tyr					PTPRZ1_uc003vjz.2_Missense_Mutation_p.F121Y	p.F121Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			4	757	+			121			Extracellular (Potential).|Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.362T>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993033	0.54041	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.34072	1.38;1.38	5.72	5.72	0.89469	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.079027	0.53938	D	0.000043	T	0.32823	0.0842	N	0.13327	0.33	0.34930	D	0.749262	B;P	0.45428	0.435;0.858	B;P	0.51999	0.166;0.687	T	0.46512	-0.9186	10	0.40728	T	0.16	.	11.1252	0.48315	0.1378:0.0:0.0:0.8622	.	121;121	C9JFM0;P23471	.;PTPRZ_HUMAN	Y	121	ENSP00000377047:F121Y;ENSP00000410000:F121Y	ENSP00000377047:F121Y	F	+	2	0	PTPRZ1	121399888	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.364000	0.59479	2.181000	0.69327	0.416000	0.27883	TTT		0.358	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		11	61	0	0	0	0.008291	0	11	61				
PTPRZ1	5803	broad.mit.edu	37	7	121650794	121650794	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:121650794T>C	ENST00000393386.2	+	12	2105	c.1694T>C	c.(1693-1695)aTa>aCa	p.I565T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I565T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	565					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I565T(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAGTTTCTATAACAGAATAT	0.418																																							uc003vjy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(1693-1695)ATA>ACA		protein tyrosine phosphatase, receptor-type,							49.0	48.0	48.0					7																	121650794		2203	4297	6500	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121650794T>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1694T>C	7.37:g.121650794T>C	ENSP00000377047:p.Ile565Thr					PTPRZ1_uc003vjz.2_Missense_Mutation_p.I565T|PTPRZ1_uc011knt.1_Missense_Mutation_p.I15T	p.I565T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	2089	+			565			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1694T>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	0.086	-1.174818	0.01646	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.46063	1.04;0.88	5.46	1.43	0.22495	.	0.767717	0.12367	N	0.475117	T	0.22898	0.0553	L	0.31294	0.92	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.29610	-1.0006	10	0.05721	T	0.95	.	5.7664	0.18229	0.0:0.0911:0.2575:0.6514	.	565;565;565	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	T	565	ENSP00000377047:I565T;ENSP00000410000:I565T	ENSP00000377047:I565T	I	+	2	0	PTPRZ1	121438030	0.000000	0.05858	0.364000	0.25888	0.884000	0.51177	-0.003000	0.12901	0.918000	0.36919	0.533000	0.62120	ATA		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		5	48	0	0	0	0.001168	0	5	48				
RBM28	55131	broad.mit.edu	37	7	127970895	127970895	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:127970895T>C	ENST00000223073.2	-	10	1220	c.1106A>G	c.(1105-1107)cAt>cGt	p.H369R	RBM28_ENST00000415472.2_Missense_Mutation_p.H228R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	369	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H369R(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGTGTCTGGATGCAAGACAAT	0.468																																							uc003vmp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1105-1107)CAT>CGT		RNA binding motif protein 28							118.0	105.0	109.0					7																	127970895		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127970895T>C	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1106A>G	7.37:g.127970895T>C	ENSP00000223073:p.His369Arg					RBM28_uc003vmo.2_5'UTR|RBM28_uc011koj.1_Missense_Mutation_p.H228R|RBM28_uc011kok.1_Missense_Mutation_p.H316R	p.H369R	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			10	1221	-			369			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1106A>G	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157000	0.78114	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.15718	2.4;2.4	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.211384	0.48767	D	0.000165	T	0.26231	0.0640	N	0.20685	0.6	0.40463	D	0.980265	P;D	0.69078	0.823;0.997	P;D	0.80764	0.727;0.994	T	0.08006	-1.0743	10	0.72032	D	0.01	-15.9409	12.0315	0.53399	0.0:0.0:0.0:1.0	.	228;369	E9PDD9;Q9NW13	.;RBM28_HUMAN	R	369;228	ENSP00000223073:H369R;ENSP00000390517:H228R	ENSP00000223073:H369R	H	-	2	0	RBM28	127758131	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.315000	0.72853	2.101000	0.63845	0.533000	0.62120	CAT		0.468	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		4	58	0	0	0	0.000248	0	4	58				
FLNC	2318	broad.mit.edu	37	7	128492994	128492994	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:128492994G>A	ENST00000325888.8	+	37	6378	c.6117G>A	c.(6115-6117)ggG>ggA	p.G2039G	FLNC_ENST00000346177.6_Silent_p.G2006G|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2039					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.G2039G(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGAGATCGGGGACGCCAGCA	0.622																																							uc003vnz.3		NA																	1	Substitution - coding silent(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(6115-6117)GGG>GGA		gamma filamin isoform a							51.0	59.0	56.0					7																	128492994		2049	4196	6245	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128492994G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6117G>A	7.37:g.128492994G>A						FLNC_uc003voa.3_Silent_p.G2006G	p.G2039G	NM_001458	NP_001449	Q14315	FLNC_HUMAN			37	6326	+			2039			Filamin 19.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.6117G>A	CCDS43644.1																																																																																				0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			3	39	0	0	0	0.004672	0	3	39				
CPA1	1357	broad.mit.edu	37	7	130023602	130023602	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:130023602C>G	ENST00000011292.3	+	6	813	c.663C>G	c.(661-663)acC>acG	p.T221T	CPA1_ENST00000484324.1_Silent_p.T133T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	221					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T221T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGATCGTCACCAACCCTGATG	0.572																																							uc003vpx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(661-663)ACC>ACG		carboxypeptidase A1 precursor							195.0	163.0	174.0					7																	130023602		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130023602C>G		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.663C>G	7.37:g.130023602C>G						CPA1_uc011kpf.1_Silent_p.T133T|CPA1_uc003vpw.2_Intron	p.T221T	NM_001868	NP_001859	P15085	CBPA1_HUMAN			6	735	+	Melanoma(18;0.0435)		221					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.663C>G	CCDS5820.1																																																																																				0.572	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		6	56	0	0	0	0.004482	0	6	56				
CALD1	800	broad.mit.edu	37	7	134632491	134632491	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:134632491G>C	ENST00000361675.2	+	8	1994	c.1765G>C	c.(1765-1767)Gag>Cag	p.E589Q	CALD1_ENST00000361901.2_Missense_Mutation_p.E334Q|CALD1_ENST00000361388.2_Missense_Mutation_p.E360Q|CALD1_ENST00000543443.1_Missense_Mutation_p.E339Q|CALD1_ENST00000393118.2_Missense_Mutation_p.E354Q|CALD1_ENST00000495522.1_Missense_Mutation_p.E354Q|CALD1_ENST00000424922.1_Missense_Mutation_p.E328Q|CALD1_ENST00000417172.1_Missense_Mutation_p.E334Q|CALD1_ENST00000422748.1_Missense_Mutation_p.E360Q			Q05682	CALD1_HUMAN	caldesmon 1	589	Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.E589Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gaggaagcaggaggaagCCGA	0.567																																							uc003vrz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1765-1767)GAG>CAG		caldesmon 1 isoform 1							40.0	41.0	41.0					7																	134632491		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134632491G>C	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1765G>C	7.37:g.134632491G>C	ENSP00000354826:p.Glu589Gln					CALD1_uc003vry.2_Missense_Mutation_p.E334Q|CALD1_uc003vsa.2_Missense_Mutation_p.E360Q|CALD1_uc003vsb.2_Missense_Mutation_p.E334Q|CALD1_uc010lmm.2_Missense_Mutation_p.E360Q|CALD1_uc011kpt.1_Missense_Mutation_p.E108Q|CALD1_uc003vsc.2_Missense_Mutation_p.E354Q|CALD1_uc003vsd.2_Missense_Mutation_p.E328Q|CALD1_uc011kpu.1_Missense_Mutation_p.E339Q|CALD1_uc011kpv.1_Missense_Mutation_p.E198Q|CALD1_uc003vse.2_Missense_Mutation_p.E453Q	p.E589Q	NM_033138	NP_149129	Q05682	CALD1_HUMAN			8	2224	+			589			Tropomyosin-binding (Potential).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1765G>C	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887593	0.52014	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.58	5.58	0.84498	.	0.272357	0.25711	N	0.028816	T	0.71609	0.3360	M	0.70903	2.155	0.46874	D	0.999239	D;D;D;D;D;D;D;D;D;D	0.69078	0.992;0.989;0.992;0.997;0.989;0.989;0.989;0.989;0.997;0.992	P;P;P;D;P;P;P;P;D;P	0.68483	0.906;0.848;0.906;0.958;0.848;0.848;0.848;0.848;0.929;0.906	T	0.70637	-0.4817	10	0.44086	T	0.13	-18.9459	18.3505	0.90337	0.0:0.0:1.0:0.0	.	283;339;360;354;328;354;334;360;589;334	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	Q	334;334;360;360;589;334;354;328;354;339	ENSP00000398826:E334Q;ENSP00000411476:E334Q;ENSP00000355000:E360Q;ENSP00000395710:E360Q;ENSP00000354826:E589Q;ENSP00000354513:E334Q;ENSP00000376826:E354Q;ENSP00000393621:E328Q;ENSP00000419673:E354Q;ENSP00000445641:E339Q	ENSP00000355000:E360Q	E	+	1	0	CALD1	134283031	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.802000	0.85969	2.626000	0.88956	0.563000	0.77884	GAG		0.567	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		5	16	0	0	0	0.001168	0	5	16				
NUP205	23165	broad.mit.edu	37	7	135290944	135290944	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:135290944G>T	ENST00000285968.6	+	20	2901	c.2875G>T	c.(2875-2877)Gat>Tat	p.D959Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	959					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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.D959Y(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGATTGTGAAGATGCAGAAGA	0.323																																							uc003vsw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2875-2877)GAT>TAT		nucleoporin 205kDa							192.0	191.0	191.0					7																	135290944		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135290944G>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2875G>T	7.37:g.135290944G>T	ENSP00000285968:p.Asp959Tyr						p.D959Y	NM_015135	NP_055950	Q92621	NU205_HUMAN			20	2906	+			959					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2875G>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464268	0.26335	.	.	ENSG00000155561	ENST00000285968	T	0.29655	1.56	5.13	5.13	0.70059	.	0.050601	0.85682	D	0.000000	T	0.25382	0.0617	N	0.12182	0.205	0.80722	D	1	D	0.58620	0.983	P	0.57846	0.828	T	0.06215	-1.0839	10	0.02654	T	1	-7.2221	11.596	0.50972	0.0829:0.0:0.9171:0.0	.	959	Q92621	NU205_HUMAN	Y	959	ENSP00000285968:D959Y	ENSP00000285968:D959Y	D	+	1	0	NUP205	134941484	1.000000	0.71417	0.995000	0.50966	0.023000	0.10783	7.623000	0.83113	2.547000	0.85894	0.462000	0.41574	GAT		0.323	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			9	94	1	0	6.40141e-05	0.000978	8.8683e-05	9	94				
CLCN1	1180	broad.mit.edu	37	7	143016969	143016969	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:143016969G>C	ENST00000343257.2	+	2	388		c.e2+1			NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.?(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AAATGTCAAGGTGATGGGGAC	0.488																																							uc003wcr.1		NA																	1	Unknown(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.e2+1		chloride channel 1, skeletal muscle							161.0	134.0	143.0					7																	143016969		2203	4300	6503	SO:0001630	splice_region_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143016969G>C	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.301+1G>C	7.37:g.143016969G>C						CLCN1_uc011ktc.1_Splice_Site|CLCN1_uc003wcs.1_5'Flank|CLCN1_uc010lox.1_5'Flank|CLCN1_uc010loy.1_5'Flank	p.D101_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN			2	388	+	Melanoma(164;0.205)							A4D2H5|Q2M202	Splice_Site	SNP	ENST00000343257.2	37	c.301_splice	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090540	0.76756	.	.	ENSG00000188037	ENST00000343257	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0868	0.81060	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCN1	142727091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.066000	0.71185	2.588000	0.87417	0.650000	0.86243	.		0.488	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	Intron	20	74	0	0	0	0.002299	0	20	74				
TPK1	27010	broad.mit.edu	37	7	144245644	144245644	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:144245644G>T	ENST00000360057.3	-	8	655	c.553C>A	c.(553-555)Ctt>Att	p.L185I	TPK1_ENST00000538212.2_Missense_Mutation_p.L131I|TPK1_ENST00000378099.3_Missense_Mutation_p.L136I|TPK1_ENST00000549981.1_Missense_Mutation_p.L68I|TPK1_ENST00000547966.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	185					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.L185I(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACAGGAATAAGGCCACACCAA	0.428																																					Ovarian(45;88 1034 2073 5829 28455)	Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(553-555)CTT>ATT		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						208.0	172.0	184.0					7																	144245644		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144245644G>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.553C>A	7.37:g.144245644G>T	ENSP00000353165:p.Leu185Ile					TPK1_uc003weo.2_Missense_Mutation_p.L131I|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.L136I|TPK1_uc003wes.2_RNA	p.L185I	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			8	656	-			185					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.553C>A	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721380	0.68959	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000549981	D;D;T;T	0.82893	-1.66;-1.66;-1.28;-1.28	5.95	5.95	0.96441	Thiamin pyrophosphokinase, vitamin B1-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.89312	0.6679	M	0.64080	1.96	0.53688	D	0.999975	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.983;0.991;0.995	D	0.87321	0.2318	10	0.35671	T	0.21	-23.1048	15.8749	0.79154	0.0:0.0:1.0:0.0	.	136;185;131	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	I	185;131;136;68	ENSP00000353165:L185I;ENSP00000438813:L131I;ENSP00000367339:L136I;ENSP00000448698:L68I	ENSP00000353165:L185I	L	-	1	0	TPK1	143876577	1.000000	0.71417	0.999000	0.59377	0.372000	0.29890	6.670000	0.74467	2.817000	0.96982	0.563000	0.77884	CTT		0.428	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		14	76	1	0	1.99824e-07	0.00499	3.27089e-07	14	76				
ZNF425	155054	broad.mit.edu	37	7	148802491	148802491	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:148802491C>A	ENST00000378061.2	-	4	604	c.472G>T	c.(472-474)Gtc>Ttc	p.V158F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	158					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V158F(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTGATGCTGACTTTTTTATTT	0.473																																							uc003wfj.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(472-474)GTC>TTC		zinc finger protein 425							112.0	111.0	111.0					7																	148802491		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802491C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.472G>T	7.37:g.148802491C>A	ENSP00000367300:p.Val158Phe						p.V158F	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	545	-	Melanoma(164;0.15)		158					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.472G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	1.735	-0.493136	0.04322	.	.	ENSG00000204947	ENST00000378061	T	0.07688	3.17	2.75	-3.13	0.05266	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	9	0.35671	T	0.21	.	1.1758	0.01835	0.1365:0.319:0.2573:0.2872	.	158	Q6IV72	ZN425_HUMAN	F	158	ENSP00000367300:V158F	ENSP00000367300:V158F	V	-	1	0	ZNF425	148433424	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.253000	0.02877	-0.429000	0.07329	-0.165000	0.13383	GTC		0.473	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		9	106	1	0	5.4927e-09	0.004482	9.52628e-09	9	106				
GIMAP8	155038	broad.mit.edu	37	7	150167962	150167962	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:150167962G>C	ENST00000307271.3	+	3	1256	c.682G>C	c.(682-684)Ggc>Cgc	p.G228R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	228						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.G228R(1)|p.G228C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAGCCACAGGGTAAGTTGAT	0.378																																							uc003whj.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(682-684)GGC>CGC		GTPase, IMAP family member 8							111.0	100.0	104.0					7																	150167962		2203	4300	6503	SO:0001630	splice_region_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150167962G>C	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.682+1G>C	7.37:g.150167962G>C							p.G228R	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	3	1012	+			228						Missense_Mutation	SNP	ENST00000307271.3	37	c.682G>C	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305255	0.40795	.	.	ENSG00000171115	ENST00000307271	T	0.05649	3.41	3.33	3.33	0.38152	.	0.766571	0.11080	N	0.601911	T	0.07143	0.0181	L	0.47190	1.495	0.36483	D	0.867958	P	0.43169	0.8	B	0.36534	0.227	T	0.34104	-0.9842	10	0.62326	D	0.03	.	10.44	0.44460	0.0:0.0:1.0:0.0	.	228	Q8ND71	GIMA8_HUMAN	R	228	ENSP00000305107:G228R	ENSP00000305107:G228R	G	+	1	0	GIMAP8	149798895	0.975000	0.34042	0.977000	0.42913	0.068000	0.16541	2.493000	0.45320	2.197000	0.70478	0.650000	0.86243	GGC		0.378	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	Missense_Mutation	3	23	0	0	0	0.000248	0	3	23				
ABCB8	11194	broad.mit.edu	37	7	150731593	150731593	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:150731593G>T	ENST00000297504.6	+	5	683	c.617G>T	c.(616-618)gGa>gTa	p.G206V	ABCB8_ENST00000477719.1_Splice_Site_p.G189V|ABCB8_ENST00000498578.1_Splice_Site_p.G189V|ABCB8_ENST00000477092.1_Splice_Site_p.G189V|ABCB8_ENST00000358849.4_Splice_Site_p.G189V|ABCB8_ENST00000542328.1_Splice_Site_p.G101V|ABCB8_ENST00000356058.4_Splice_Site_p.G226V|ABCB8_ENST00000493338.1_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	206	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G189V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CTTTCGCAGGGACTGCTGACC	0.652																																							uc003wil.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)	3						c.(616-618)GGA>GTA		ATP-binding cassette, sub-family B, member 8							91.0	86.0	87.0					7																	150731593		2203	4300	6503	SO:0001630	splice_region_variant	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150731593G>T	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.616-1G>T	7.37:g.150731593G>T						ABCB8_uc003wii.2_Missense_Mutation_p.G226V|ABCB8_uc003wij.3_Missense_Mutation_p.G189V|ABCB8_uc010lpw.1_Missense_Mutation_p.G8V|ABCB8_uc010lpx.2_Missense_Mutation_p.G189V|ABCB8_uc011kvd.1_Missense_Mutation_p.G101V|ABCB8_uc003wim.3_5'UTR|ABCB8_uc003wik.3_Missense_Mutation_p.G189V	p.G206V	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	710	+			206			ABC transmembrane type-1.|Helical; (Potential).		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.617G>T		.	.	.	.	.	.	.	.	.	.	G	19.80	3.893990	0.72639	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	5.06	5.06	0.68205	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	M	0.80746	2.51	0.80722	D	1	P;D;P;D;D;D;D	0.67145	0.941;0.993;0.885;0.993;0.992;0.996;0.996	P;D;P;D;D;D;D	0.70487	0.854;0.969;0.665;0.969;0.948;0.933;0.95	D	0.94688	0.7871	10	0.62326	D	0.03	-3.2617	15.9619	0.79936	0.0:0.0:1.0:0.0	.	101;189;19;206;189;189;226	G3XAP3;A5D8W3;B3KND2;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.;.;.;ABCB8_HUMAN;.;.;.	V	189;172;206;101;189;226;189;189	ENSP00000351717:G189V;ENSP00000297504:G206V;ENSP00000438776:G101V;ENSP00000418271:G189V;ENSP00000348353:G226V;ENSP00000419891:G189V;ENSP00000419558:G189V	ENSP00000297504:G206V	G	+	2	0	ABCB8	150362526	1.000000	0.71417	0.996000	0.52242	0.380000	0.30137	5.969000	0.70422	2.366000	0.80165	0.655000	0.94253	GGA		0.652	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188	Missense_Mutation	13	96	1	0	1.05317e-09	0.00245	1.86355e-09	13	96				
KMT2C	58508	broad.mit.edu	37	7	151904477	151904477	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:151904477G>T	ENST00000262189.6	-	24	3967	c.3749C>A	c.(3748-3750)tCt>tAt	p.S1250Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.S1250Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1250					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.S1250Y(2)									CTCAGGACTAGATTCTGATTT	0.373																																						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.(3748-3750)TCT>TAT		myeloid/lymphoid or mixed-lineage leukemia 3							89.0	82.0	84.0					7																	151904477		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.chr7:151904477G>T	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.3749C>A	7.37:g.151904477G>T	ENSP00000262189:p.Ser1250Tyr					MLL3_uc003wkz.2_Missense_Mutation_p.S311Y	p.S1250Y	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)	24	3968	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1250					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3749C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908999	0.72868	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84730	-1.89;-1.89	5.73	5.73	0.89815	.	0.000000	0.44688	D	0.000425	D	0.90978	0.7163	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.915;0.972	D	0.90983	0.4829	10	0.66056	D	0.02	.	19.914	0.97034	0.0:0.0:1.0:0.0	.	1250;311	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	Y	1250	ENSP00000262189:S1250Y;ENSP00000347325:S1250Y	ENSP00000262189:S1250Y	S	-	2	0	MLL3	151535410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.779000	0.91792	2.712000	0.92718	0.557000	0.71058	TCT		0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	56	1	0	0.000442599	0.006214	0.000568128	8	56				
UBE3C	9690	broad.mit.edu	37	7	156963050	156963050	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:156963050G>C	ENST00000348165.5	+	4	608	c.248G>C	c.(247-249)gGg>gCg	p.G83A	UBE3C_ENST00000389103.4_Missense_Mutation_p.G40A	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	83					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G83A(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCACAGTCCGGGGGCGCTTTT	0.408																																							uc010lqs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)	5						c.(247-249)GGG>GCG		ubiquitin protein ligase E3C							151.0	146.0	148.0					7																	156963050		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156963050G>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.248G>C	7.37:g.156963050G>C	ENSP00000309198:p.Gly83Ala					UBE3C_uc003wnf.2_Missense_Mutation_p.G40A|UBE3C_uc003wng.2_Missense_Mutation_p.G83A	p.G83A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	4	560	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	83					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.248G>C	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424667	0.43020	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.45668	0.89	4.82	3.92	0.45320	.	0.239433	0.42172	D	0.000757	T	0.51941	0.1704	M	0.62723	1.935	0.58432	D	0.999998	B;P;D	0.55385	0.027;0.94;0.971	B;P;P	0.57244	0.007;0.525;0.816	T	0.50558	-0.8814	10	0.09084	T	0.74	.	14.8781	0.70510	0.0:0.1445:0.8555:0.0	.	83;83;40	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	A	83;40	ENSP00000309198:G83A	ENSP00000309198:G83A	G	+	2	0	UBE3C	156655811	1.000000	0.71417	0.021000	0.16686	0.078000	0.17371	5.431000	0.66507	0.986000	0.38683	0.650000	0.86243	GGG		0.408	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		18	88	0	0	0	0.001523	0	18	88				
RP1L1	94137	broad.mit.edu	37	8	10468702	10468702	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:10468702A>T	ENST00000382483.3	-	4	3129	c.2906T>A	c.(2905-2907)aTa>aAa	p.I969K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	969					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.I969K(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)		TGTCATGAGTATGGGCTCTTC	0.627																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2905-2907)ATA>AAA		retinitis pigmentosa 1-like 1							49.0	55.0	53.0					8																	10468702		1970	4150	6120	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468702A>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.2906T>A	8.37:g.10468702A>T	ENSP00000371923:p.Ile969Lys						p.I969K	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3135	-			969					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2906T>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790292	0.31685	.	.	ENSG00000183638	ENST00000382483	T	0.76839	-1.05	4.51	0.727	0.18254	.	1.541750	0.04896	N	0.450392	T	0.64549	0.2608	N	0.24115	0.695	0.09310	N	1	B	0.26975	0.165	B	0.26416	0.069	T	0.54330	-0.8310	10	0.72032	D	0.01	1.4499	4.3762	0.11272	0.6501:0.1698:0.1801:0.0	.	969	A6NKC6	.	K	969	ENSP00000371923:I969K	ENSP00000371923:I969K	I	-	2	0	RP1L1	10506112	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.733000	0.26087	-0.022000	0.13986	0.379000	0.24179	ATA		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	80	0	0	0	0.004482	0	9	80				
LPL	4023	broad.mit.edu	37	8	19805777	19805777	+	Missense_Mutation	SNP	G	G	A	rs375484335		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:19805777G>A	ENST00000311322.8	+	2	645	c.175G>A	c.(175-177)Gga>Aga	p.G59R	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	59					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.G59R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CCTCATTCCCGGAGTAGCAGA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		19622	0.0		0.0	False		,,,				2504	0.001						uc003wzk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(175-177)GGA>AGA		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	137.0	122.0	127.0		175	5.2	0.9	8		127	0,8600		0,0,4300	no	missense	LPL	NM_000237.2	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	59/476	19805777	1,13005	2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19805777G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.175G>A	8.37:g.19805777G>A	ENSP00000309757:p.Gly59Arg						p.G59R	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	545	+			59					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.175G>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777887	0.70107	2.27E-4	0.0	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322;ENST00000535763	D;D;D	0.91068	-2.78;-2.78;-2.78	5.23	5.23	0.72850	Lipase, N-terminal (1);	0.439880	0.27280	N	0.020097	D	0.94785	0.8316	M	0.76328	2.33	0.43417	D	0.995563	D	0.76494	0.999	D	0.72625	0.978	D	0.94392	0.7615	8	.	.	.	-17.4492	16.6495	0.85185	0.0:0.0:1.0:0.0	.	59	P06858	LIPL_HUMAN	R	59;59;59;45	ENSP00000428237:G59R;ENSP00000428557:G59R;ENSP00000309757:G59R	.	G	+	1	0	LPL	19850057	1.000000	0.71417	0.944000	0.38274	0.134000	0.20937	7.880000	0.87243	2.599000	0.87857	0.655000	0.94253	GGA		0.483	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			3	51	0	0	0	0.000248	0	3	51				
TEX15	56154	broad.mit.edu	37	8	30702509	30702509	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:30702509A>T	ENST00000256246.2	-	1	4099	c.4025T>A	c.(4024-4026)gTg>gAg	p.V1342E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1342					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.V1342E(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTATCTGTCACTGCAGCGGC	0.383																																							uc003xil.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(4024-4026)GTG>GAG		testis expressed 15							111.0	122.0	119.0					8																	30702509		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30702509A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4025T>A	8.37:g.30702509A>T	ENSP00000256246:p.Val1342Glu						p.V1342E	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4025	-			1342						Missense_Mutation	SNP	ENST00000256246.2	37	c.4025T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971902	0.53614	.	.	ENSG00000133863	ENST00000256246	T	0.23348	1.91	6.07	0.53	0.17102	.	0.751019	0.12204	N	0.489989	T	0.34513	0.0900	L	0.50333	1.59	0.09310	N	1	D	0.57571	0.98	P	0.55965	0.788	T	0.18335	-1.0340	10	0.87932	D	0	.	8.5703	0.33565	0.6714:0.0:0.3286:0.0	.	1342	Q9BXT5	TEX15_HUMAN	E	1342	ENSP00000256246:V1342E	ENSP00000256246:V1342E	V	-	2	0	TEX15	30822051	0.001000	0.12720	0.000000	0.03702	0.026000	0.11368	1.263000	0.33004	-0.112000	0.11979	0.533000	0.62120	GTG		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			11	63	0	0	0	0.008291	0	11	63				
TEX15	56154	broad.mit.edu	37	8	30702944	30702944	+	Missense_Mutation	SNP	G	G	T	rs201613905		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:30702944G>T	ENST00000256246.2	-	1	3664	c.3590C>A	c.(3589-3591)tCt>tAt	p.S1197Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1197					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1197Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTAGTGCTAGATAAAAATGC	0.313																																							uc003xil.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(3589-3591)TCT>TAT		testis expressed 15							31.0	32.0	32.0					8																	30702944		2201	4295	6496	SO:0001583	missense	56154							g.chr8:30702944G>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3590C>A	8.37:g.30702944G>T	ENSP00000256246:p.Ser1197Tyr						p.S1197Y	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3590	-			1197						Missense_Mutation	SNP	ENST00000256246.2	37	c.3590C>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492593	0.26774	.	.	ENSG00000133863	ENST00000256246	T	0.14144	2.53	5.53	3.68	0.42216	.	0.358910	0.24130	N	0.041262	T	0.27241	0.0668	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	D	0.68039	0.955	T	0.03008	-1.1083	10	0.87932	D	0	.	6.8746	0.24139	0.0941:0.1878:0.7181:0.0	.	1197	Q9BXT5	TEX15_HUMAN	Y	1197	ENSP00000256246:S1197Y	ENSP00000256246:S1197Y	S	-	2	0	TEX15	30822486	0.919000	0.31177	0.212000	0.23672	0.083000	0.17756	2.517000	0.45529	1.429000	0.47314	0.563000	0.77884	TCT		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			3	21	1	0	6.4e-05	0.004672	8.8683e-05	3	21				
NRG1	3084	broad.mit.edu	37	8	32621438	32621438	+	Missense_Mutation	SNP	G	G	T	rs377596065		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:32621438G>T	ENST00000405005.3	+	12	1441	c.1441G>T	c.(1441-1443)Gtg>Ttg	p.V481L	NRG1_ENST00000539990.1_Missense_Mutation_p.V324L|NRG1_ENST00000519301.1_Missense_Mutation_p.V431L|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.V478L|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.V486L|NRG1_ENST00000287845.5_Missense_Mutation_p.V452L|NRG1_ENST00000338921.4_Missense_Mutation_p.V489L|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	481					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V486L(2)|p.V486M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCTACTTCTCGTGACACCACC	0.582																																							uc003xiv.2		NA																	3	Substitution - Missense(3)		lung(2)|haematopoietic_and_lymphoid_tissue(1)		0						c.(1441-1443)GTG>TTG		neuregulin 1 isoform HRG-alpha							136.0	108.0	118.0					8																	32621438		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621438G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1441G>T	8.37:g.32621438G>T	ENSP00000384620:p.Val481Leu					NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.V486L|NRG1_uc003xiw.2_Missense_Mutation_p.V478L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.V223L|NRG1_uc010lvs.2_Missense_Mutation_p.V223L|NRG1_uc010lvp.2_Missense_Mutation_p.V435L|NRG1_uc010lvq.2_Missense_Mutation_p.V418L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.V324L|NRG1_uc003xja.2_Missense_Mutation_p.V292L	p.V481L	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	12	1958	+		Breast(100;0.203)	481			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1441G>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	7.453	0.643085	0.14451	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.88	5.88	0.94601	Neuregulin 1-related, C-terminal (1);	0.253655	0.38492	N	0.001673	T	0.69097	0.3073	L	0.44542	1.39	0.49299	D	0.999772	D;D;D;D;D;D;D	0.76494	0.995;0.992;0.989;0.975;0.986;0.999;0.986	D;P;D;P;D;D;D	0.87578	0.992;0.902;0.955;0.773;0.927;0.998;0.924	T	0.59166	-0.7505	10	0.11794	T	0.64	-4.5079	20.2366	0.98359	0.0:0.0:1.0:0.0	.	324;452;486;489;478;481;486	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	L	448;431;554;489;486;481;452;478;481;324	ENSP00000430053:V448L;ENSP00000429582:V431L;ENSP00000429067:V554L;ENSP00000343395:V489L;ENSP00000349275:V486L;ENSP00000287840:V481L;ENSP00000287845:V452L;ENSP00000287842:V478L;ENSP00000384620:V481L;ENSP00000439276:V324L	ENSP00000287840:V481L	V	+	1	0	NRG1	32740980	1.000000	0.71417	0.966000	0.40874	0.118000	0.20060	9.511000	0.98006	2.792000	0.96026	0.557000	0.71058	GTG		0.582	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			5	28	1	0	1.23904e-05	0.000602	1.80687e-05	5	28				
PROSC	11212	broad.mit.edu	37	8	37633506	37633508	+	Missense_Mutation	TNP	TGG	TGG	ATT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	TGG	TGG	-	-	TGG	TGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:37633506_37633508TGG>ATT	ENST00000328195.3	+	7	735_737	c.668_670TGG>ATT	c.(667-672)aTGGgc>aATTgc	p.223_224MG>NC		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	223					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	GAGCTGAGCATGGGCATGTCCGC	0.562																																							uc003xkh.2		NA																	0				central_nervous_system(1)	1						c.(667-672)ATGGGC>AATTGC		proline synthetase co-transcribed homolog	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)																																			SO:0001583	missense	11212						pyridoxal phosphate binding	g.chr8:37633506_37633508TGG>ATT	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.668_670TGG>ATT	8.37:g.37633506TGG>ATT	ENSP00000333551:p.M223_G224delinsNC						p.223_224MG>NC	NM_007198	NP_009129	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		7	745_747	+		Lung NSC(58;0.174)	223_224					Q6FI94	Missense_Mutation	TNP	ENST00000328195.3	37	c.668_670TGG>ATT	CCDS6096.1																																																																																				0.562	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		5	80	0	0	0	0.004672	0	5	80				
ADAM9	8754	broad.mit.edu	37	8	38913229	38913229	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:38913229C>A	ENST00000487273.2	+	14	1607	c.1529C>A	c.(1528-1530)gCc>gAc	p.A510D		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	510	Cys-rich.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A510D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AATAACAAAGCCTATTGCTAC	0.383																																							uc003xmr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1528-1530)GCC>GAC		ADAM metallopeptidase domain 9 isoform 1							164.0	144.0	151.0					8																	38913229		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38913229C>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1529C>A	8.37:g.38913229C>A	ENSP00000419446:p.Ala510Asp					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	p.A510D	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		14	1607	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	510			Cys-rich.|Extracellular (Potential).		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.1529C>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029517	0.93518	.	.	ENSG00000168615	ENST00000487273	T	0.24538	1.85	5.51	5.51	0.81932	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	M	0.81802	2.56	0.80722	D	1	P	0.50617	0.937	P	0.59643	0.861	T	0.55341	-0.8156	10	0.66056	D	0.02	.	19.7818	0.96418	0.0:1.0:0.0:0.0	.	510	Q13443	ADAM9_HUMAN	D	510	ENSP00000419446:A510D	ENSP00000369249:A510D	A	+	2	0	ADAM9	39032386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.815000	0.69215	2.736000	0.93811	0.655000	0.94253	GCC		0.383	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			5	58	1	0	0.00116845	0.001168	0.00142726	5	58				
KAT6A	7994	broad.mit.edu	37	8	41836297	41836297	+	Splice_Site	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:41836297T>A	ENST00000396930.3	-	7	1451		c.e7-2		KAT6A_ENST00000485568.1_Splice_Site|KAT6A_ENST00000265713.2_Splice_Site|KAT6A_ENST00000406337.1_Splice_Site	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A						aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(1)									TCCACATGCCTATAAAAAAAT	0.343																																							uc010lxb.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.e7-1		MYST histone acetyltransferase (monocytic							108.0	103.0	105.0					8																	41836297		2203	4300	6503	SO:0001630	splice_region_variant	7994				histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41836297T>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.908-2A>T	8.37:g.41836297T>A						MYST3_uc010lxc.2_Splice_Site_p.G303_splice|MYST3_uc003xon.3_Splice_Site_p.G303_splice|MYST3_uc010lxd.2_Splice_Site_p.G303_splice	p.G303_splice	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		7	1452	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)						Q76L81	Splice_Site	SNP	ENST00000396930.3	37	c.908_splice	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568729	0.86439	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6307	0.76906	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KAT6A	41955454	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.694000	0.84235	2.081000	0.62600	0.524000	0.50904	.		0.343	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	Intron	5	58	0	0	0	0.000602	0	5	58				
CHRNA6	8973	broad.mit.edu	37	8	42611334	42611334	+	Silent	SNP	T	T	A	rs373535041		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:42611334T>A	ENST00000276410.2	-	5	1363	c.1008A>T	c.(1006-1008)acA>acT	p.T336T	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Silent_p.T321T	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	336					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.T336T(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)	ACCTGGGCATTGTGTGCGTGG	0.547																																							uc003xpj.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1006-1008)ACA>ACT		cholinergic receptor, nicotinic, alpha 6		T	,	0,4406		0,0,2203	91.0	84.0	87.0		963,1008	2.1	1.0	8		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CHRNA6	NM_001199279.1,NM_004198.3	,	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	,	321/480,336/495	42611334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611334T>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.1008A>T	8.37:g.42611334T>A						CHRNA6_uc011lcw.1_Silent_p.T321T	p.T336T	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1054	-	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)	336			Cytoplasmic.		B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	c.1008A>T	CCDS6135.1																																																																																				0.547	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			5	37	0	0	0	0.000602	0	5	37				
PXDNL	137902	broad.mit.edu	37	8	52320839	52320839	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:52320839G>C	ENST00000356297.4	-	17	3445	c.3345C>G	c.(3343-3345)tcC>tcG	p.S1115S	PXDNL_ENST00000543296.1_Silent_p.S1115S	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1115					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S1115S(1)|p.S314S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGAGAAGGTAGGAGGGTGCCC	0.572																																							uc003xqu.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3343-3345)TCC>TCG		peroxidasin homolog-like precursor							52.0	58.0	57.0					8																	52320839		1915	4118	6033	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320839G>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3345C>G	8.37:g.52320839G>C						PXDNL_uc003xqt.3_RNA	p.S1115S	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3446	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1115					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.3345C>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.576791	0.00887	.	.	ENSG00000147485	ENST00000522933	.	.	.	3.82	-7.63	0.01290	.	.	.	.	.	T	0.33702	0.0872	.	.	.	0.36032	D	0.839442	.	.	.	.	.	.	T	0.33266	-0.9875	4	.	.	.	.	1.7908	0.03051	0.1427:0.3433:0.2867:0.2273	.	.	.	.	R	234	.	.	P	-	2	0	PXDNL	52483392	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.383000	0.00243	-2.756000	0.00372	-1.261000	0.01458	CCT		0.572	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		5	74	0	0	0	0.000602	0	5	74				
PXDNL	137902	broad.mit.edu	37	8	52384864	52384864	+	Splice_Site	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:52384864T>C	ENST00000356297.4	-	8	795	c.695A>G	c.(694-696)cAg>cGg	p.Q232R	PXDNL_ENST00000543296.1_Splice_Site_p.Q232R	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	232	LRRCT.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Q232R(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCGGGGGCTCTCTGCAACAAA	0.413																																							uc003xqu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(694-696)CAG>CGG		peroxidasin homolog-like precursor							81.0	76.0	78.0					8																	52384864		1834	4079	5913	SO:0001630	splice_region_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384864T>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.695-1A>G	8.37:g.52384864T>C							p.Q232R	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			8	796	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	232			LRRCT.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.695A>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	6.858	0.527529	0.13127	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.51325	0.71;0.71	3.84	3.84	0.44239	Cysteine-rich flanking region, C-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30854	0.0778	N	0.16790	0.44	0.31605	N	0.652237	B	0.09022	0.002	B	0.01281	0.0	T	0.27434	-1.0074	9	0.31617	T	0.26	.	10.6424	0.45600	0.0:0.0:0.0:1.0	.	232	A1KZ92	PXDNL_HUMAN	R	232	ENSP00000348645:Q232R;ENSP00000444865:Q232R	ENSP00000348645:Q232R	Q	-	2	0	PXDNL	52547417	1.000000	0.71417	0.271000	0.24616	0.115000	0.19883	6.488000	0.73637	1.407000	0.46875	0.397000	0.26171	CAG		0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Missense_Mutation	3	40	0	0	0	0.004672	0	3	40				
RP1	6101	broad.mit.edu	37	8	55542651	55542651	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:55542651A>G	ENST00000220676.1	+	4	6357	c.6209A>G	c.(6208-6210)aAc>aGc	p.N2070S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2070					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.N2070S(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)			GAGAATAACAACTTATTAAAT	0.358																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(6208-6210)AAC>AGC		retinitis pigmentosa RP1 protein							47.0	48.0	48.0					8																	55542651		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542651A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6209A>G	8.37:g.55542651A>G	ENSP00000220676:p.Asn2070Ser					RP1_uc011ldy.1_Intron	p.N2070S	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	6357	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2070						Missense_Mutation	SNP	ENST00000220676.1	37	c.6209A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009163	0.54361	.	.	ENSG00000104237	ENST00000220676	T	0.27720	1.65	5.76	5.76	0.90799	.	0.331584	0.25467	N	0.030470	T	0.42381	0.1200	M	0.61703	1.905	0.30435	N	0.776732	P	0.52316	0.952	P	0.49477	0.612	T	0.52442	-0.8575	10	0.87932	D	0	.	14.6387	0.68708	1.0:0.0:0.0:0.0	.	2070	P56715	RP1_HUMAN	S	2070	ENSP00000220676:N2070S	ENSP00000220676:N2070S	N	+	2	0	RP1	55705204	1.000000	0.71417	0.997000	0.53966	0.667000	0.39255	4.333000	0.59285	2.201000	0.70794	0.533000	0.62120	AAC		0.358	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	29	0	0	0	0.001984	0	6	29				
ARMC1	55156	broad.mit.edu	37	8	66517566	66517566	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:66517566C>A	ENST00000276569.3	-	6	833	c.589G>T	c.(589-591)Gca>Tca	p.A197S	ARMC1_ENST00000458464.2_Missense_Mutation_p.A95S	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	197					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.A197S(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ATTGCTGATGCCAAAGCCTAA	0.333																																							uc003xvl.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(589-591)GCA>TCA		armadillo repeat-containing protein							109.0	105.0	106.0					8																	66517566		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66517566C>A	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.589G>T	8.37:g.66517566C>A	ENSP00000276569:p.Ala197Ser					ARMC1_uc011leo.1_Missense_Mutation_p.A95S	p.A197S	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		6	824	-			197					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.589G>T	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710187	0.68730	.	.	ENSG00000104442	ENST00000276569;ENST00000458464	T;T	0.41400	1.0;1.0	5.36	5.36	0.76844	Heavy metal-associated domain, HMA (1);	0.047936	0.85682	D	0.000000	T	0.47414	0.1444	M	0.71581	2.175	0.58432	D	0.999998	P;P	0.41131	0.739;0.651	B;B	0.39119	0.291;0.084	T	0.50906	-0.8772	10	0.42905	T	0.14	-8.6182	19.0996	0.93269	0.0:1.0:0.0:0.0	.	95;197	B4E2W7;Q9NVT9	.;ARMC1_HUMAN	S	197;95	ENSP00000276569:A197S;ENSP00000388572:A95S	ENSP00000276569:A197S	A	-	1	0	ARMC1	66680120	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.380000	0.79704	2.507000	0.84556	0.555000	0.69702	GCA		0.333	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		11	42	1	0	7.03913e-09	0.001368	1.21342e-08	11	42				
ADHFE1	137872	broad.mit.edu	37	8	67361160	67361160	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:67361160A>T	ENST00000396623.3	+	8	720	c.689A>T	c.(688-690)cAc>cTc	p.H230L	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.H182L|ADHFE1_ENST00000379385.4_Missense_Mutation_p.H230L	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	230					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.H230L(1)|p.H182L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CACACCCTCCACATGCCTGCC	0.507																																							uc003xwb.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(688-690)CAC>CTC		alcohol dehydrogenase, iron containing, 1							201.0	193.0	195.0					8																	67361160		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67361160A>T	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.689A>T	8.37:g.67361160A>T	ENSP00000379865:p.His230Leu					ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.H182L|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.H160L|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	p.H230L	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		8	723	+		Lung NSC(129;0.197)	230					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.689A>T	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	A	17.13	3.312014	0.60414	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.42513	0.97;0.97;0.97	6.05	6.05	0.98169	Alcohol dehydrogenase, iron-type (1);	0.292751	0.43919	D	0.000505	T	0.42337	0.1198	L	0.50333	1.59	0.37737	D	0.925478	B	0.26672	0.156	B	0.33121	0.158	T	0.48127	-0.9062	10	0.66056	D	0.02	-13.2051	12.4145	0.55486	0.7555:0.2445:0.0:0.0	.	230	Q8IWW8	HOT_HUMAN	L	230;230;182	ENSP00000368695:H230L;ENSP00000379865:H230L;ENSP00000407115:H182L	ENSP00000368695:H230L	H	+	2	0	ADHFE1	67523714	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.799000	0.62517	2.320000	0.78422	0.528000	0.53228	CAC		0.507	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		20	135	0	0	0	0.002299	0	20	135				
MSC	9242	broad.mit.edu	37	8	72754953	72754953	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:72754953C>A	ENST00000325509.4	-	2	853	c.564G>T	c.(562-564)ccG>ccT	p.P188P	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000537896.1_5'Flank|RP11-383H13.1_ENST00000524152.1_5'Flank	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	188					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P188P(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGTCAGAGTCCGGTCTTCCCG	0.463																																							uc003xyx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)CCG>CCT		musculin							303.0	302.0	302.0					8																	72754953		1942	4133	6075	SO:0001819	synonymous_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754953C>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.564G>T	8.37:g.72754953C>A						uc011lff.1_5'Flank|uc003xyy.2_5'Flank	p.P188P	NM_005098	NP_005089	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	882	-	Breast(64;0.176)		188					O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.564G>T	CCDS43746.1																																																																																				0.463	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		25	274	1	0	3.65163e-15	0.00632	7.03093e-15	25	274				
ZFHX4	79776	broad.mit.edu	37	8	77766690	77766690	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:77766690C>A	ENST00000521891.2	+	10	7981	c.7533C>A	c.(7531-7533)caC>caA	p.H2511Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2466Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2466Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2485Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2466					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.H2495Q(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)			GGCAGGAACACCAGCACATGC	0.483										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7396-7398)CAC>CAA		zinc finger homeodomain 4							186.0	192.0	190.0					8																	77766690		2071	4226	6297	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766690C>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.7533C>A	8.37:g.77766690C>A	ENSP00000430497:p.His2511Gln	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.H2511Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H2466Q	p.H2466Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7785	+			2466			C2H2-type 16.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7398C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065458	0.36470	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	4.94	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.46758	U	0.000262	T	0.67088	0.2856	M	0.75777	2.31	0.58432	D	0.999996	D;D;D	0.76494	0.983;0.99;0.999	D;D;D	0.87578	0.979;0.991;0.998	T	0.71344	-0.4621	10	0.87932	D	0	.	12.9168	0.58211	0.0:0.9176:0.0:0.0824	.	2466;2466;2511	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	2511;2495;2466;2466;2485	ENSP00000430497:H2511Q;ENSP00000399605:H2466Q;ENSP00000050961:H2466Q;ENSP00000430848:H2485Q	ENSP00000050961:H2466Q	H	+	3	2	ZFHX4	77929245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.885000	0.56182	1.200000	0.43188	0.650000	0.86243	CAC		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	110	1	0	0.000157383	0.00308	0.000211083	7	110				
ZFHX4	79776	broad.mit.edu	37	8	77766734	77766734	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:77766734C>G	ENST00000521891.2	+	10	8025	c.7577C>G	c.(7576-7578)tCt>tGt	p.S2526C	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2481C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2481C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2500C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2481					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.S2510C(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)			TTCCTTCACTCTCCGTTCTTG	0.498										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7441-7443)TCT>TGT		zinc finger homeodomain 4							165.0	165.0	165.0					8																	77766734		2032	4210	6242	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766734C>G		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.7577C>G	8.37:g.77766734C>G	ENSP00000430497:p.Ser2526Cys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S2526C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2481C	p.S2481C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7829	+			2481					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7442C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740432	0.49045	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.63;0.68;0.64;0.64	4.94	4.94	0.65067	.	0.000000	0.43260	U	0.000587	T	0.66406	0.2786	M	0.61703	1.905	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.997	D;D;D	0.68765	0.912;0.936;0.96	T	0.68727	-0.5332	10	0.62326	D	0.03	.	18.3571	0.90361	0.0:1.0:0.0:0.0	.	2481;2481;2526	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2526;2510;2481;2481;2500	ENSP00000430497:S2526C;ENSP00000399605:S2481C;ENSP00000050961:S2481C;ENSP00000430848:S2500C	ENSP00000050961:S2481C	S	+	2	0	ZFHX4	77929289	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.645000	0.83430	2.569000	0.86673	0.650000	0.86243	TCT		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	105	0	0	0	0.001168	0	6	105				
ZFHX4	79776	broad.mit.edu	37	8	77767190	77767190	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:77767190C>A	ENST00000521891.2	+	10	8481	c.8033C>A	c.(8032-8034)cCg>cAg	p.P2678Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2633Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2633Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2652Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2633					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.P2662Q(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)			AAACGGTGTCCGTTTTGCCGA	0.542										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7897-7899)CCG>CAG		zinc finger homeodomain 4							57.0	58.0	58.0					8																	77767190		1944	4142	6086	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767190C>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.8033C>A	8.37:g.77767190C>A	ENSP00000430497:p.Pro2678Gln	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P2678Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2633Q	p.P2633Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8285	+			2633			C2H2-type 17.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7898C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921566	0.33908	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.44285	U	0.000473	T	0.50103	0.1596	L	0.47716	1.5	0.80722	D	1	P;P;D	0.55800	0.95;0.886;0.973	D;D;D	0.69142	0.962;0.962;0.937	T	0.50048	-0.8873	10	0.72032	D	0.01	.	18.4467	0.90686	0.0:1.0:0.0:0.0	.	2633;2633;2678	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	2678;2662;2633;2633;2652	ENSP00000430497:P2678Q;ENSP00000399605:P2633Q;ENSP00000050961:P2633Q;ENSP00000430848:P2652Q	ENSP00000050961:P2633Q	P	+	2	0	ZFHX4	77929745	1.000000	0.71417	0.895000	0.35142	0.233000	0.25261	7.651000	0.83577	2.591000	0.87537	0.455000	0.32223	CCG		0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	32	1	0	0.00116845	0.001168	0.00142726	6	32				
ZFHX4	79776	broad.mit.edu	37	8	77775744	77775744	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:77775744A>T	ENST00000521891.2	+	11	10242	c.9794A>T	c.(9793-9795)tAc>tTc	p.Y3265F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y3216F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y3220F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y3239F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3216					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)			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)			TTCTTGCCATACTTTATCCCT	0.488										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9658-9660)TAC>TTC		zinc finger homeodomain 4							154.0	146.0	149.0					8																	77775744		1905	4129	6034	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775744A>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.9794A>T	8.37:g.77775744A>T	ENSP00000430497:p.Tyr3265Phe	HNSCC(33;0.089)					p.Y3220F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10046	+			3216					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9659A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568503	0.45798	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57907	0.37;0.42;0.38;0.37	4.69	4.69	0.59074	.	0.000000	0.38663	U	0.001612	T	0.62720	0.2451	L	0.41492	1.28	0.58432	D	0.999998	D	0.71674	0.998	D	0.80764	0.994	T	0.60652	-0.7221	10	0.34782	T	0.22	.	14.6094	0.68504	1.0:0.0:0.0:0.0	.	3220	Q86UP3-4	.	F	3265;3249;3220;3216;3239	ENSP00000430497:Y3265F;ENSP00000399605:Y3220F;ENSP00000050961:Y3216F;ENSP00000430848:Y3239F	ENSP00000050961:Y3216F	Y	+	2	0	ZFHX4	77938299	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.031000	0.93731	2.097000	0.63578	0.533000	0.62120	TAC		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	101	0	0	0	0.001984	0	6	101				
CA3	761	broad.mit.edu	37	8	86354332	86354332	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:86354332A>T	ENST00000285381.2	+	3	346	c.263A>T	c.(262-264)tAc>tTc	p.Y88F	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	88					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.Y88F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	CCTGGACCCTACCGACTTCGC	0.502																																							uc003ydj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(262-264)TAC>TTC		carbonic anhydrase III							101.0	96.0	98.0					8																	86354332		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86354332A>T	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.263A>T	8.37:g.86354332A>T	ENSP00000285381:p.Tyr88Phe					CA3_uc011lfv.1_RNA	p.Y88F	NM_005181	NP_005172	P07451	CAH3_HUMAN			3	346	+			88					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.263A>T	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207444	0.79240	.	.	ENSG00000164879	ENST00000520921;ENST00000285381;ENST00000426378	T;T	0.58940	0.3;0.3	6.17	6.17	0.99709	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.72367	-0.4315	10	0.45353	T	0.12	-30.9145	16.0034	0.80327	1.0:0.0:0.0:0.0	.	88	P07451	CAH3_HUMAN	F	11;88;72	ENSP00000429760:Y11F;ENSP00000285381:Y88F	ENSP00000285381:Y88F	Y	+	2	0	CA3	86541584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.689000	0.91265	2.371000	0.80710	0.533000	0.62120	TAC		0.502	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		12	52	0	0	0	0.000978	0	12	52				
CNGB3	54714	broad.mit.edu	37	8	87588160	87588161	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:87588160_87588161GG>AT	ENST00000320005.5	-	18	2348_2349	c.2301_2302CC>AT	c.(2299-2304)ccCCac>ccATac	p.H768Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	768					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.H768Y(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						CTAACTGAGTGGGGTTCTTCCT	0.455																																							uc003ydx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2299-2304)CCCCAC>CCATAC		cyclic nucleotide gated channel beta 3																																				SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87588160_87588161GG>AT	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.2301_2302delinsAT	8.37:g.87588160_87588161delinsAT	ENSP00000316605:p.His768Tyr					CNGB3_uc010maj.2_Missense_Mutation_p.H625Y	p.H768Y	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			18	2347_2348	-			768			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	DNP	ENST00000320005.5	37	c.2301_2302CC>AT	CCDS6244.1																																																																																				0.455	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		8	81	0	0	0	0.004672	0	8	81				
MMP16	4325	broad.mit.edu	37	8	89128926	89128926	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:89128926G>T	ENST00000286614.6	-	6	1174	c.893C>A	c.(892-894)cCa>cAa	p.P298Q	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	298					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P298Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCTTGTAGGTGGAGGAATCTT	0.502																																							uc003yeb.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(892-894)CCA>CAA		matrix metalloproteinase 16 isoform 1							198.0	203.0	201.0					8																	89128926		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128926G>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.893C>A	8.37:g.89128926G>T	ENSP00000286614:p.Pro298Gln					MMP16_uc003yec.2_Missense_Mutation_p.P298Q	p.P298Q	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1175	-			298			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.893C>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	9.157	1.017719	0.19355	.	.	ENSG00000156103	ENST00000286614	T	0.15603	2.41	5.79	5.79	0.91817	.	0.253789	0.41294	D	0.000912	T	0.06554	0.0168	N	0.00783	-1.19	0.47862	D	0.999531	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.0	T	0.39187	-0.9626	10	0.08179	T	0.78	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	298;298	P51512-2;P51512	.;MMP16_HUMAN	Q	298	ENSP00000286614:P298Q	ENSP00000286614:P298Q	P	-	2	0	MMP16	89198042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.861000	0.69553	2.753000	0.94483	0.557000	0.71058	CCA		0.502	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		11	95	1	0	2.27111e-07	0.001368	3.68043e-07	11	95				
NECAB1	64168	broad.mit.edu	37	8	91963393	91963393	+	Silent	SNP	T	T	C	rs369372783		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:91963393T>C	ENST00000417640.2	+	12	1328	c.991T>C	c.(991-993)Ttg>Ctg	p.L331L	NECAB1_ENST00000522820.1_Silent_p.L80L|NECAB1_ENST00000521366.1_Silent_p.L80L	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	331	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L331L(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TGTGGATTTCTTGGAAACTCC	0.338																																							uc011lgg.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(991-993)TTG>CTG		N-terminal EF-hand calcium binding protein 1		T		0,3674		0,0,1837	90.0	88.0	89.0		991	4.3	1.0	8		89	2,8156		0,2,4077	no	coding-synonymous	NECAB1	NM_022351.4		0,2,5914	CC,CT,TT		0.0245,0.0,0.0169		331/352	91963393	2,11830	1837	4079	5916	SO:0001819	synonymous_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91963393T>C	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.991T>C	8.37:g.91963393T>C						NECAB1_uc003yer.2_Silent_p.L80L	p.L331L	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		12	1185	+			331					Q6NUS7|Q96AZ7|Q9HBW8	Silent	SNP	ENST00000417640.2	37	c.991T>C	CCDS47889.1																																																																																				0.338	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		5	36	0	0	0	0.001168	0	5	36				
TMEM67	91147	broad.mit.edu	37	8	94798502	94798502	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:94798502C>T	ENST00000453321.3	+	13	1398	c.1340C>T	c.(1339-1341)gCa>gTa	p.A447V	TMEM67_ENST00000409623.3_Missense_Mutation_p.A366V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	447					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.A437V(1)|p.A447V(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGTGGATGCAGTAAGTGGA	0.338																																							uc011lgk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1339-1341)GCA>GTA		meckelin isoform 1							66.0	68.0	67.0					8																	94798502		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94798502C>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1340C>T	8.37:g.94798502C>T	ENSP00000389998:p.Ala447Val					TMEM67_uc010mat.1_Missense_Mutation_p.A362V|TMEM67_uc010maw.2_Missense_Mutation_p.A153V|TMEM67_uc003yga.3_Missense_Mutation_p.A366V	p.A447V	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		13	1411	+	Breast(36;4.14e-07)		447					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.1340C>T	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650648	0.47362	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623;ENST00000453906	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.7	5.7	0.88788	.	0.403023	0.28349	N	0.015665	D	0.95306	0.8477	L	0.39898	1.24	0.36021	D	0.838776	B;B;B	0.21381	0.01;0.055;0.045	B;B;B	0.24394	0.021;0.053;0.031	D	0.93818	0.7116	10	0.51188	T	0.08	-2.0418	19.8273	0.96622	0.0:1.0:0.0:0.0	.	447;366;366	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	V	344;447;366;153	ENSP00000388671:A344V;ENSP00000389998:A447V;ENSP00000386966:A366V;ENSP00000403035:A153V	ENSP00000314488:A437V	A	+	2	0	TMEM67	94867678	0.917000	0.31117	1.000000	0.80357	0.993000	0.82548	2.998000	0.49465	2.665000	0.90641	0.655000	0.94253	GCA		0.338	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		4	97	0	0	0	0.000602	0	4	97				
CDH17	1015	broad.mit.edu	37	8	95189829	95189829	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:95189829T>A	ENST00000027335.3	-	4	395	c.271A>T	c.(271-273)Act>Tct	p.T91S	CDH17_ENST00000441892.2_Missense_Mutation_p.T91S|CDH17_ENST00000450165.2_Missense_Mutation_p.T91S	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.T91S(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGATTGTGAGTAGATCTTGTT	0.453																																							uc003ygh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(271-273)ACT>TCT		cadherin 17 precursor							225.0	214.0	218.0					8																	95189829		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95189829T>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.271A>T	8.37:g.95189829T>A	ENSP00000027335:p.Thr91Ser					CDH17_uc011lgo.1_Missense_Mutation_p.T91S|CDH17_uc011lgp.1_Missense_Mutation_p.T91S	p.T91S	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	396	-	Breast(36;4.65e-06)		91			Extracellular (Potential).|Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.271A>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.971138	0.00457	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60548	0.18;4.33;0.18;0.78	6.04	-4.03	0.04021	Cadherin (3);Cadherin-like (1);	1.316260	0.05067	N	0.481044	T	0.28234	0.0697	N	0.08118	0	0.09310	N	1	B;B	0.31769	0.001;0.339	B;B	0.29353	0.002;0.101	T	0.09729	-1.0661	10	0.10636	T	0.68	-0.4062	4.2178	0.10544	0.0873:0.6379:0.0867:0.188	.	91;91	E7EN24;Q12864	.;CAD17_HUMAN	S	91	ENSP00000027335:T91S;ENSP00000392811:T91S;ENSP00000401468:T91S;ENSP00000428189:T91S	ENSP00000027335:T91S	T	-	1	0	CDH17	95259005	0.019000	0.18553	0.000000	0.03702	0.003000	0.03518	0.160000	0.16462	-1.311000	0.02309	-0.371000	0.07208	ACT		0.453	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		7	111	0	0	0	0.001984	0	7	111				
KIAA1429	25962	broad.mit.edu	37	8	95524282	95524282	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:95524282G>C	ENST00000297591.5	-	12	2862	c.2787C>G	c.(2785-2787)ggC>ggG	p.G929G	KIAA1429_ENST00000421249.2_Silent_p.G929G|KIAA1429_ENST00000437199.1_Silent_p.G929G|KIAA1429_ENST00000523405.1_5'Flank	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	929					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G929G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAGTGGTAAGGCCAACTCCTT	0.388																																							uc003ygo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2785-2787)GGC>GGG		hypothetical protein LOC25962 isoform 1							83.0	82.0	82.0					8																	95524282		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95524282G>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2787C>G	8.37:g.95524282G>C						KIAA1429_uc003ygp.2_Silent_p.G929G|KIAA1429_uc010maz.1_RNA	p.G929G	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		12	2800	-	Breast(36;3.29e-05)		929					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.2787C>G	CCDS34923.1																																																																																				0.388	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		3	14	0	0	0	0.004672	0	3	14				
C8orf37	157657	broad.mit.edu	37	8	96281405	96281405	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:96281405G>T	ENST00000286688.5	-	1	24	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	KB-1047C11.2_ENST00000521905.1_lincRNA	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	5						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L5M(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					AGCTCGTCCAGGTCCTCCGCC	0.622											OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003yho.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(13-15)CTG>ATG		hypothetical protein LOC157657							120.0	117.0	118.0					8																	96281405		2203	4300	6503	SO:0001583	missense	157657							g.chr8:96281405G>T	AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.13C>A	8.37:g.96281405G>T	ENSP00000286688:p.Leu5Met		OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1319		p.L5M	NM_177965	NP_808880	Q96NL8	CH037_HUMAN			1	33	-	Breast(36;3.41e-05)		5						Missense_Mutation	SNP	ENST00000286688.5	37	c.13C>A	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520823	0.64747	.	.	ENSG00000156172	ENST00000286688	T	0.78364	-1.17	4.46	3.58	0.41010	.	0.094954	0.43260	D	0.000594	D	0.83834	0.5340	M	0.62723	1.935	0.34163	D	0.668923	D	0.89917	1.0	D	0.91635	0.999	D	0.87251	0.2273	10	0.66056	D	0.02	-1.3094	8.4481	0.32854	0.1802:0.0:0.8198:0.0	.	5	Q96NL8	CH037_HUMAN	M	5	ENSP00000286688:L5M	ENSP00000286688:L5M	L	-	1	2	C8orf37	96350581	0.980000	0.34600	1.000000	0.80357	0.832000	0.47134	0.732000	0.26072	1.234000	0.43709	0.467000	0.42956	CTG		0.622	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		9	184	1	0	2.17888e-05	0.006214	3.14511e-05	9	184				
VPS13B	157680	broad.mit.edu	37	8	100148980	100148980	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:100148980G>C	ENST00000358544.2	+	12	1762	c.1651G>C	c.(1651-1653)Ggt>Cgt	p.G551R	VPS13B_ENST00000357162.2_Splice_Site_p.G551R|VPS13B_ENST00000355155.1_Splice_Site_p.G551R|VPS13B_ENST00000395996.1_Splice_Site_p.G551R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	551					protein transport (GO:0015031)			p.G551R(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGTGGCAAAGGTATTGGCTT	0.418																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(1651-1653)GGT>CGT		vacuolar protein sorting 13B isoform 5							218.0	208.0	212.0					8																	100148980		2203	4300	6503	SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100148980G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1651+1G>C	8.37:g.100148980G>C						VPS13B_uc003yiw.2_Missense_Mutation_p.G551R|VPS13B_uc003yit.2_Missense_Mutation_p.G551R|VPS13B_uc003yiu.1_Missense_Mutation_p.G551R|VPS13B_uc003yix.1_Missense_Mutation_p.G22R	p.G551R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		12	1762	+	Breast(36;3.73e-07)		551					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1651G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479113	0.44044	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.75704	-0.96;-0.26;-0.26;0.03	5.1	5.1	0.69264	.	0.176365	0.38381	N	0.001715	T	0.78246	0.4253	N	0.24115	0.695	0.58432	D	0.999999	D;D;P;P;D	0.71674	0.998;0.989;0.622;0.925;0.996	D;D;B;P;P	0.66847	0.947;0.913;0.372;0.571;0.839	T	0.80167	-0.1495	10	0.49607	T	0.09	.	18.5289	0.90984	0.0:0.0:1.0:0.0	.	551;551;551;551;551	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	R	551	ENSP00000347281:G551R;ENSP00000349685:G551R;ENSP00000351346:G551R;ENSP00000379318:G551R	ENSP00000347281:G551R	G	+	1	0	VPS13B	100218156	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.199000	0.95003	2.377000	0.81083	0.460000	0.39030	GGT		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Missense_Mutation	4	99	0	0	0	0.000248	0	4	99				
VPS13B	157680	broad.mit.edu	37	8	100832257	100832257	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:100832257C>A	ENST00000358544.2	+	49	9087	c.8976C>A	c.(8974-8976)atC>atA	p.I2992I	VPS13B_ENST00000357162.2_Silent_p.I2967I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2992					protein transport (GO:0015031)			p.I2992I(1)|p.I2967I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCTGCTTATCAATGAATCCA	0.423																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(8974-8976)ATC>ATA		vacuolar protein sorting 13B isoform 5							131.0	133.0	133.0					8																	100832257		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100832257C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8976C>A	8.37:g.100832257C>A						VPS13B_uc003yiw.2_Silent_p.I2967I	p.I2992I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		49	9087	+	Breast(36;3.73e-07)		2992					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.8976C>A	CCDS6280.1																																																																																				0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		9	154	1	0	3.09899e-07	0.004482	4.96537e-07	9	154				
ATP6V1C1	528	broad.mit.edu	37	8	104066159	104066159	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:104066159A>T	ENST00000395862.3	+	7	680	c.521A>T	c.(520-522)gAc>gTc	p.D174V	ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.D99V|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.D99V|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.D174V	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	174					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)	p.D174V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAGAAGGATGACTTTGTTCTT	0.323																																							uc003ykz.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(520-522)GAC>GTC		ATPase, H+ transporting, lysosomal V1 subunit							161.0	156.0	158.0					8																	104066159		2203	4299	6502	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104066159A>T	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.521A>T	8.37:g.104066159A>T	ENSP00000379203:p.Asp174Val					ATP6V1C1_uc010mbz.2_Missense_Mutation_p.D99V|ATP6V1C1_uc003yla.2_Missense_Mutation_p.D174V|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.D99V	p.D174V	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		7	766	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		174						Missense_Mutation	SNP	ENST00000395862.3	37	c.521A>T	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501693	0.85176	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.28	5.28	0.74379	.	0.042993	0.85682	D	0.000000	T	0.71913	0.3396	M	0.88241	2.94	0.80722	D	1	D	0.63880	0.993	D	0.66979	0.948	T	0.76386	-0.2978	10	0.45353	T	0.12	.	15.1967	0.73096	1.0:0.0:0.0:0.0	.	174	P21283	VATC1_HUMAN	V	99;174;99;174	ENSP00000428204:D99V;ENSP00000379203:D174V;ENSP00000430129:D99V;ENSP00000430282:D174V	ENSP00000379203:D174V	D	+	2	0	ATP6V1C1	104135335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	1.991000	0.58162	0.533000	0.62120	GAC		0.323	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		8	87	0	0	0	0.006214	0	8	87				
RIMS2	9699	broad.mit.edu	37	8	104987593	104987593	+	Missense_Mutation	SNP	G	G	A	rs372815457		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:104987593G>A	ENST00000436393.2	+	14	2361	c.2120G>A	c.(2119-2121)gGt>gAt	p.G707D	RIMS2_ENST00000262231.10_Missense_Mutation_p.G768D|RIMS2_ENST00000507740.1_Missense_Mutation_p.G721D|RIMS2_ENST00000406091.3_Missense_Mutation_p.G929D			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	991	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.G721D(2)|p.G929D(1)|p.G707D(1)|p.G996D(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGACATGATGGTCGAGATCTT	0.348										HNSCC(12;0.0054)																													uc003yls.2		NA																	5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2119-2121)GGT>GAT		regulating synaptic membrane exocytosis 2							85.0	77.0	80.0					8																	104987593		1868	4094	5962	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104987593G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2120G>A	8.37:g.104987593G>A	ENSP00000390665:p.Gly707Asp	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.G929D|RIMS2_uc003ylw.2_Missense_Mutation_p.G721D|RIMS2_uc003ylq.2_Missense_Mutation_p.G721D|RIMS2_uc003ylr.2_Missense_Mutation_p.G768D|RIMS2_uc003ylt.2_Missense_Mutation_p.G314D	p.G707D	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2361	+			991					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2120G>A		.	.	.	.	.	.	.	.	.	.	G	25.8	4.677612	0.88445	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.18960	2.18;2.66;2.33;2.36;2.27;2.61	5.11	5.11	0.69529	.	.	.	.	.	T	0.47021	0.1423	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.987;0.962;0.999;1.0;1.0;1.0	T	0.37126	-0.9719	9	0.48119	T	0.1	.	18.9147	0.92501	0.0:0.0:1.0:0.0	.	991;991;707;768;721;929	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	D	929;944;929;991;768;721;721;707	ENSP00000427018:G929D;ENSP00000384892:G929D;ENSP00000262231:G768D;ENSP00000423559:G721D;ENSP00000386228:G721D;ENSP00000390665:G707D	ENSP00000262231:G768D	G	+	2	0	RIMS2	105056769	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.060000	0.71141	2.544000	0.85801	0.655000	0.94253	GGT		0.348	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		4	27	0	0	0	0.000602	0	4	27				
RIMS2	9699	broad.mit.edu	37	8	105263260	105263260	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:105263260G>T	ENST00000436393.2	+	27	3995	c.3754G>T	c.(3754-3756)Gta>Tta	p.V1252L	RIMS2_ENST00000262231.10_Missense_Mutation_p.V1073L|RIMS2_ENST00000507740.1_Missense_Mutation_p.V1048L|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1234L|RIMS2_ENST00000339750.2_Missense_Mutation_p.V170L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1296					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.V1048L(2)|p.V1252L(1)|p.V1234L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCACCGTATGTAAAAGTGTA	0.398										HNSCC(12;0.0054)																													uc003yls.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3754-3756)GTA>TTA		regulating synaptic membrane exocytosis 2							102.0	88.0	93.0					8																	105263260		1867	4113	5980	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263260G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3754G>T	8.37:g.105263260G>T	ENSP00000390665:p.Val1252Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.V1234L|RIMS2_uc003ylw.2_Missense_Mutation_p.V1241L|RIMS2_uc003ylq.2_Missense_Mutation_p.V1048L|RIMS2_uc003ylr.2_Missense_Mutation_p.V1073L	p.V1252L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		27	3995	+			1296			C2 2.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3754G>T		.	.	.	.	.	.	.	.	.	.	G	32	5.182349	0.94885	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	D;D;D;T;D;D;D	0.84873	-1.91;-1.91;-1.91;0.16;-1.91;-1.91;-1.91	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.95046	0.8396	H	0.96489	3.83	0.80722	D	1	P;P;B;D;D	0.56035	0.722;0.915;0.405;0.974;0.974	P;D;B;D;D	0.66847	0.707;0.92;0.405;0.947;0.947	D	0.96207	0.9150	9	0.87932	D	0	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	1296;1252;1073;1048;1234	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	1271;1234;1296;1073;1048;1241;1252;170;170	ENSP00000384892:V1234L;ENSP00000262231:V1073L;ENSP00000423559:V1048L;ENSP00000386228:V1241L;ENSP00000390665:V1252L;ENSP00000428478:V170L;ENSP00000342051:V170L	ENSP00000262231:V1073L	V	+	1	0	RIMS2	105332436	1.000000	0.71417	0.988000	0.46212	0.708000	0.40852	9.801000	0.99128	2.669000	0.90835	0.585000	0.79938	GTA		0.398	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		6	49	1	0	0.00198382	0.001984	0.00238984	6	49				
RIMS2	9699	broad.mit.edu	37	8	105263899	105263899	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:105263899G>T	ENST00000436393.2	+	28	4196	c.3955G>T	c.(3955-3957)Gat>Tat	p.D1319Y	RIMS2_ENST00000262231.10_Missense_Mutation_p.D1140Y|RIMS2_ENST00000507740.1_Missense_Mutation_p.D1115Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1301Y|RIMS2_ENST00000339750.2_Missense_Mutation_p.D237Y			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1363	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.D1115Y(2)|p.D1301Y(1)|p.D1319Y(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATACTTTTAGATGAACTAGA	0.448										HNSCC(12;0.0054)																													uc003yls.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3955-3957)GAT>TAT		regulating synaptic membrane exocytosis 2							157.0	156.0	156.0					8																	105263899		1890	4141	6031	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263899G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3955G>T	8.37:g.105263899G>T	ENSP00000390665:p.Asp1319Tyr	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.D1301Y|RIMS2_uc003ylq.2_Missense_Mutation_p.D1115Y|RIMS2_uc003ylr.2_Missense_Mutation_p.D1140Y	p.D1319Y	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		28	4196	+			1363					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3955G>T		.	.	.	.	.	.	.	.	.	.	G	18.35	3.604381	0.66445	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.64	5.64	0.86602	.	.	.	.	.	D	0.86636	0.5980	L	0.55213	1.73	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.999	D;D;D;D	0.83275	0.996;0.971;0.971;0.98	D	0.87157	0.2212	9	0.87932	D	0	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	1319;1140;1115;1301	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	Y	1338;1301;1363;1140;1115;1319;237;237	ENSP00000384892:D1301Y;ENSP00000262231:D1140Y;ENSP00000423559:D1115Y;ENSP00000390665:D1319Y;ENSP00000428478:D237Y;ENSP00000342051:D237Y	ENSP00000262231:D1140Y	D	+	1	0	RIMS2	105333075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.857000	0.99534	2.660000	0.90430	0.655000	0.94253	GAT		0.448	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		14	99	1	0	1.49906e-05	0.00245	2.17766e-05	14	99				
LRP12	29967	broad.mit.edu	37	8	105503207	105503207	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:105503207T>C	ENST00000276654.5	-	7	2382	c.2274A>G	c.(2272-2274)agA>agG	p.R758R	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.R739R	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	758					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.R758R(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TATCAAGTTGTCTCAAAGGAC	0.423																																							uc003yma.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2272-2274)AGA>AGG		low density lipoprotein-related protein 12							110.0	107.0	108.0					8																	105503207		2203	4300	6503	SO:0001819	synonymous_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503207T>C	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2274A>G	8.37:g.105503207T>C						LRP12_uc003ymb.2_Silent_p.R739R|LRP12_uc003ylz.2_Silent_p.R164R	p.R758R	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2369	-			758			Cytoplasmic (Potential).		A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	c.2274A>G	CCDS6303.1																																																																																				0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		5	68	0	0	0	0.000602	0	5	68				
OXR1	55074	broad.mit.edu	37	8	107691480	107691480	+	Missense_Mutation	SNP	G	G	A	rs541833758		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:107691480G>A	ENST00000442977.2	+	3	365	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	OXR1_ENST00000445937.1_Missense_Mutation_p.R88Q|OXR1_ENST00000497705.1_Missense_Mutation_p.R21Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.R88Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R81Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R88Q	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	89					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.R89Q(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GATGGAAGACGAATGTCTTTT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		16014	0.0		0.0	False		,,,				2504	0.001						uc011lht.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)CGA>CAA		oxidation resistance 1 isoform 1							93.0	96.0	95.0					8																	107691480		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107691480G>A	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.266G>A	8.37:g.107691480G>A	ENSP00000405424:p.Arg89Gln					OXR1_uc003ymf.2_Missense_Mutation_p.R88Q|OXR1_uc011lhu.1_Missense_Mutation_p.R81Q|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.R21Q|OXR1_uc003ymi.1_5'UTR	p.R89Q	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		3	365	+			89					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.266G>A	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743623	0.96873	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000517686;ENST00000497705;ENST00000312046	T;T;T;T;T;T;T	0.48836	2.3;2.3;2.32;2.32;0.8;1.3;2.24	5.95	5.95	0.96441	.	.	.	.	.	T	0.66626	0.2808	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.994;0.999;0.997	T	0.60530	-0.7245	9	0.38643	T	0.18	.	20.3818	0.98936	0.0:0.0:1.0:0.0	.	81;89;21;88	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.;OXR1_HUMAN;.;.	Q	88;88;88;89;19;21;81	ENSP00000402918:R88Q;ENSP00000431966:R88Q;ENSP00000429205:R88Q;ENSP00000405424:R89Q;ENSP00000429438:R19Q;ENSP00000431014:R21Q;ENSP00000311026:R81Q	ENSP00000311026:R81Q	R	+	2	0	OXR1	107760656	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.203000	0.95033	2.829000	0.97493	0.585000	0.79938	CGA		0.338	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		7	43	0	0	0	0.004482	0	7	43				
RSPO2	340419	broad.mit.edu	37	8	109094816	109094816	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:109094816A>T	ENST00000276659.5	-	2	671	c.51T>A	c.(49-51)gaT>gaA	p.D17E	RSPO2_ENST00000517781.1_Missense_Mutation_p.D17E|RSPO2_ENST00000378439.2_Missense_Mutation_p.D17E|RSPO2_ENST00000517939.1_5'Flank	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	17					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.D17E(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AGTGGCTGTAATCCATGCAGT	0.597																																							uc003yms.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(49-51)GAT>GAA		R-spondin family, member 2 precursor							103.0	92.0	96.0					8																	109094816		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109094816A>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.51T>A	8.37:g.109094816A>T	ENSP00000276659:p.Asp17Glu					RSPO2_uc003ymq.2_5'Flank|RSPO2_uc003ymr.2_Missense_Mutation_p.D17E	p.D17E	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		2	709	-			17					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.51T>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590395	0.66219	.	.	ENSG00000147655	ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521956;ENST00000522333	T;T;D;D;D	0.87650	-0.47;-0.47;-2.28;-2.28;-2.28	5.57	3.21	0.36854	.	0.074579	0.52532	D	0.000076	T	0.72684	0.3491	N	0.20845	0.615	0.24129	N	0.995772	B;B	0.24576	0.106;0.106	B;B	0.24155	0.051;0.051	T	0.55496	-0.8132	10	0.02654	T	1	-19.7192	9.4513	0.38727	0.8549:0.0:0.1451:0.0	.	17;17	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	E	17	ENSP00000427937:D17E;ENSP00000367698:D17E;ENSP00000276659:D17E;ENSP00000430010:D17E;ENSP00000430973:D17E	ENSP00000276659:D17E	D	-	3	2	RSPO2	109163992	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.727000	0.47311	0.417000	0.25871	-0.353000	0.07706	GAT		0.597	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		8	29	0	0	0	0.004482	0	8	29				
PKHD1L1	93035	broad.mit.edu	37	8	110477060	110477060	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:110477060G>T	ENST00000378402.5	+	49	8103	c.7999G>T	c.(7999-8001)Gcc>Tcc	p.A2667S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2667					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A2669S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATGGAGGTGCCCTTCAGTT	0.448										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7999-8001)GCC>TCC		fibrocystin L precursor							92.0	92.0	92.0					8																	110477060		1876	4108	5984	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477060G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7999G>T	8.37:g.110477060G>T	ENSP00000367655:p.Ala2667Ser	HNSCC(38;0.096)					p.A2667S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8103	+			2667			Extracellular (Potential).|PbH1 3.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7999G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562587	0.65538	.	.	ENSG00000205038	ENST00000378402	T	0.80304	-1.36	5.78	5.78	0.91487	Pectin lyase fold/virulence factor (1);	0.065823	0.64402	D	0.000012	T	0.76018	0.3929	L	0.46741	1.465	0.34210	D	0.674209	P	0.37824	0.609	B	0.39379	0.298	T	0.76599	-0.2900	10	0.10377	T	0.69	.	17.4929	0.87709	0.0:0.0:1.0:0.0	.	2667	Q86WI1	PKHL1_HUMAN	S	2667	ENSP00000367655:A2667S	ENSP00000367655:A2667S	A	+	1	0	PKHD1L1	110546236	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.227000	0.72282	2.724000	0.93272	0.655000	0.94253	GCC		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		9	77	1	0	7.48243e-07	0.006214	1.17892e-06	9	77				
CSMD3	114788	broad.mit.edu	37	8	113694713	113694713	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:113694713C>A	ENST00000297405.5	-	16	2879	c.2635G>T	c.(2635-2637)Gat>Tat	p.D879Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D775Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D879Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D839Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	879	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D879Y(1)|p.D839Y(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						ACTTTTCCATCCATAAGAATA	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.(2635-2637)GAT>TAT		CUB and Sushi multiple domains 3 isoform 1							147.0	142.0	144.0					8																	113694713		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113694713C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2635G>T	8.37:g.113694713C>A	ENSP00000297405:p.Asp879Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D151Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D839Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D775Y	p.D879Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2794	-			879			Sushi 4.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2635G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420855	0.62622	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.68	4.8	0.61643	Complement control module (2);Sushi/SCR/CCP (3);	0.307930	0.29822	N	0.011117	T	0.78648	0.4316	M	0.72479	2.2	0.31043	N	0.716101	D;D;D	0.89917	0.98;0.984;1.0	P;P;D	0.83275	0.844;0.903;0.996	T	0.81317	-0.0987	10	0.72032	D	0.01	.	16.6535	0.85223	0.0:0.87:0.13:0.0	.	775;879;839	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	839;879;219;775;879	ENSP00000345799:D839Y;ENSP00000297405:D879Y;ENSP00000341558:D219Y;ENSP00000412263:D775Y;ENSP00000343124:D879Y	ENSP00000297405:D879Y	D	-	1	0	CSMD3	113763889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.320000	0.43797	1.374000	0.46228	0.650000	0.86243	GAT		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	100	1	0	0.00198382	0.001984	0.00238984	5	100				
TRPS1	7227	broad.mit.edu	37	8	116616676	116616676	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:116616676G>A	ENST00000220888.5	-	3	1640	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.T494I|TRPS1_ENST00000520276.1_Missense_Mutation_p.T498I|TRPS1_ENST00000395715.3_Missense_Mutation_p.T507I			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	494					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T494I(1)|p.T507I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTGGTCATTGTCTCTCCTTC	0.458									Langer-Giedion syndrome																														uc003ynz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1480-1482)ACA>ATA		zinc finger transcription factor TRPS1							112.0	109.0	110.0					8																	116616676		1886	4110	5996	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616676G>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1481C>T	8.37:g.116616676G>A	ENSP00000220888:p.Thr494Ile					TRPS1_uc011lhy.1_Missense_Mutation_p.T498I|TRPS1_uc003yny.2_Missense_Mutation_p.T507I|TRPS1_uc010mcy.2_Missense_Mutation_p.T494I	p.T494I	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1940	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		494					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1481C>T		.	.	.	.	.	.	.	.	.	.	G	2.110	-0.404011	0.04832	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	D;D;D;T	0.98345	-4.88;-4.85;-4.85;0.95	5.6	4.73	0.59995	.	0.784854	0.12025	N	0.506484	D	0.93481	0.7920	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.005;0.002;0.005	D	0.87778	0.2610	10	0.52906	T	0.07	.	7.0472	0.25052	0.289:0.0:0.711:0.0	.	498;494;507	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	I	507;494;498;494	ENSP00000379065:T507I;ENSP00000220888:T494I;ENSP00000428680:T498I;ENSP00000429174:T494I	ENSP00000220888:T494I	T	-	2	0	TRPS1	116685851	0.985000	0.35326	0.412000	0.26496	0.124000	0.20399	3.081000	0.50120	1.504000	0.48704	0.591000	0.81541	ACA		0.458	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		4	110	0	0	0	0.000248	0	4	110				
RAD21	5885	broad.mit.edu	37	8	117868937	117868937	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:117868937C>G	ENST00000297338.2	-	7	1049	c.762G>C	c.(760-762)atG>atC	p.M254I	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	254					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.M254I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCTCTGGCAACATCACCCCTG	0.423																																							uc003yod.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(760-762)ATG>ATC		RAD21 homolog							94.0	96.0	96.0					8																	117868937		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117868937C>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.762G>C	8.37:g.117868937C>G	ENSP00000297338:p.Met254Ile						p.M254I	NM_006265	NP_006256	O60216	RAD21_HUMAN			7	1050	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		254					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.762G>C	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651295	0.47362	.	.	ENSG00000164754	ENST00000297338	T	0.52295	0.67	5.47	5.47	0.80525	.	0.079212	0.85682	D	0.000000	T	0.34019	0.0883	N	0.22421	0.69	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.09487	-1.0672	10	0.37606	T	0.19	-17.8437	12.6516	0.56764	0.0:0.9243:0.0:0.0756	.	254	O60216	RAD21_HUMAN	I	254	ENSP00000297338:M254I	ENSP00000297338:M254I	M	-	3	0	RAD21	117938118	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.925000	0.70062	2.568000	0.86640	0.467000	0.42956	ATG		0.423	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		10	85	0	0	0	0.008291	0	10	85				
COL14A1	7373	broad.mit.edu	37	8	121222052	121222052	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:121222052G>A	ENST00000297848.3	+	12	1649	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	COL14A1_ENST00000309791.4_Missense_Mutation_p.R460Q|COL14A1_ENST00000247781.3_Missense_Mutation_p.R365Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.R460Q	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R460Q(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACAGCATGCGAGTCAAATGG	0.468																																							uc003yox.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1378-1380)CGA>CAA		collagen, type XIV, alpha 1 precursor							119.0	110.0	113.0					8																	121222052		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121222052G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1379G>A	8.37:g.121222052G>A	ENSP00000297848:p.Arg460Gln					COL14A1_uc003yoy.2_Missense_Mutation_p.R138Q|COL14A1_uc010mde.1_Missense_Mutation_p.R138Q	p.R460Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		12	1644	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		460			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1379G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972234	0.53614	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.31	4.3	0.51218	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.238373	0.40554	N	0.001067	T	0.65471	0.2694	M	0.87827	2.91	0.38716	D	0.953336	D;D	0.71674	0.998;0.963	P;B	0.53722	0.733;0.435	T	0.69873	-0.5027	10	0.34782	T	0.22	.	9.5569	0.39343	0.1917:0.0:0.8083:0.0	.	460;460	Q05707-2;Q05707	.;COEA1_HUMAN	Q	460;460;460;365;273	ENSP00000443974:R460Q;ENSP00000311809:R460Q;ENSP00000297848:R460Q;ENSP00000247781:R365Q;ENSP00000409461:R273Q	ENSP00000247781:R365Q	R	+	2	0	COL14A1	121291233	0.971000	0.33674	0.012000	0.15200	0.324000	0.28378	2.470000	0.45119	1.206000	0.43276	0.650000	0.86243	CGA		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		5	90	0	0	0	0.001984	0	5	90				
OC90	729330	broad.mit.edu	37	8	133053387	133053387	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:133053387G>T	ENST00000443356.2	-	6	447	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	OC90_ENST00000254627.3_Missense_Mutation_p.R121S|OC90_ENST00000603859.1_Missense_Mutation_p.R121S|OC90_ENST00000262283.5_Missense_Mutation_p.R317S			Q02509	OC90_HUMAN	otoconin 90	121	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.R127S(1)|p.R317S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TAGCACCTGCGGTGCTGGAAG	0.552																																							uc003ytg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(313-315)CGC>AGC		otoconin 90							79.0	80.0	80.0					8																	133053387		1973	4162	6135	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053387G>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.361C>A	8.37:g.133053387G>T	ENSP00000390050:p.Arg121Ser					OC90_uc011lix.1_Missense_Mutation_p.R121S	p.R105S	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		4	313	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		121			Phospholipase A2-like 1.		B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.313C>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.250903	0.80135	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.25912	1.77;1.77;1.77	5.61	4.72	0.59763	Phospholipase A2 (3);	0.075410	0.52532	D	0.000065	T	0.43875	0.1267	L	0.50333	1.59	0.34713	D	0.727931	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.51132	-0.8744	10	0.42905	T	0.14	-32.9909	14.0649	0.64821	0.0736:0.0:0.9264:0.0	.	121;121	Q02509-2;Q02509	.;OC90_HUMAN	S	121;121;317	ENSP00000254627:R121S;ENSP00000390050:R121S;ENSP00000262283:R317S	ENSP00000254627:R121S	R	-	1	0	RP11-240B13.2;OC90	133122569	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.877000	0.75562	2.669000	0.90835	0.585000	0.79938	CGC		0.552	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		8	98	1	0	0.00307968	0.00308	0.00367105	8	98				
PHF20L1	51105	broad.mit.edu	37	8	133807005	133807005	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:133807005G>C	ENST00000395386.2	+	4	581	c.282G>C	c.(280-282)ctG>ctC	p.L94L	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Silent_p.L94L|PHF20L1_ENST00000395376.1_Silent_p.L94L|PHF20L1_ENST00000395390.2_Silent_p.L94L|PHF20L1_ENST00000395379.1_Silent_p.L94L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	94	Tudor 2.						zinc ion binding (GO:0008270)	p.L94L(3)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGAAGTTCTGGCTCGTTGGA	0.313																																							uc003ytt.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(280-282)CTG>CTC		PHD finger protein 20-like 1 isoform 1							53.0	57.0	56.0					8																	133807005		2203	4300	6503	SO:0001819	synonymous_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133807005G>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.282G>C	8.37:g.133807005G>C						PHF20L1_uc003ytr.2_Silent_p.L94L|PHF20L1_uc010mdv.2_Silent_p.L94L|PHF20L1_uc003yts.2_Silent_p.L94L|PHF20L1_uc011lja.1_Silent_p.L94L|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytq.2_Silent_p.L94L	p.L94L	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	607	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		94			Tudor 2.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	c.282G>C	CCDS6367.2																																																																																				0.313	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		6	33	0	0	0	0.001984	0	6	33				
PHF20L1	51105	broad.mit.edu	37	8	133829707	133829707	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:133829707G>T	ENST00000395386.2	+	12	1795	c.1496G>T	c.(1495-1497)aGg>aTg	p.R499M	PHF20L1_ENST00000395390.2_Missense_Mutation_p.R474M|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	499							zinc ion binding (GO:0008270)	p.R499M(1)|p.R473M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAATGTCCCAGGGCAGAAAAA	0.463																																							uc003ytt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1495-1497)AGG>ATG		PHD finger protein 20-like 1 isoform 1							69.0	63.0	65.0					8																	133829707		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133829707G>T	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1496G>T	8.37:g.133829707G>T	ENSP00000378784:p.Arg499Met					PHF20L1_uc003yts.2_Missense_Mutation_p.R499M|PHF20L1_uc011lja.1_Missense_Mutation_p.R473M|PHF20L1_uc003ytu.1_RNA	p.R499M	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		12	1821	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		499					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.1496G>T	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	17.54	3.413909	0.62511	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	T;T;T;T;T	0.48522	0.86;0.81;1.47;0.85;1.47	5.15	3.36	0.38483	.	.	.	.	.	T	0.36303	0.0962	N	0.19112	0.55	0.80722	D	1	P;P;P	0.43938	0.589;0.822;0.547	B;B;B	0.44315	0.323;0.446;0.277	T	0.15896	-1.0421	9	0.56958	D	0.05	-18.3805	10.652	0.45653	0.1527:0.0:0.8473:0.0	.	474;499;499	F8W9L8;A8MW92;A8MW92-4	.;P20L1_HUMAN;.	M	503;474;499;499;369;474	ENSP00000378781:R503M;ENSP00000355301:R474M;ENSP00000378784:R499M;ENSP00000324519:R499M;ENSP00000378788:R474M	ENSP00000324519:R499M	R	+	2	0	PHF20L1	133898889	1.000000	0.71417	0.825000	0.32803	0.892000	0.51952	1.606000	0.36826	0.671000	0.31185	0.585000	0.79938	AGG		0.463	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		8	32	1	0	1.12685e-05	0.004482	1.66247e-05	8	32				
TG	7038	broad.mit.edu	37	8	133931682	133931682	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:133931682C>A	ENST00000220616.4	+	21	4480	c.4440C>A	c.(4438-4440)ttC>ttA	p.F1480L	TG_ENST00000377869.1_Missense_Mutation_p.F1480L|TG_ENST00000542445.1_5'Flank	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1480					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.F1480L(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)		CTGTTGGATTCTACCAAGAAC	0.453																																							uc003ytw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(4438-4440)TTC>TTA		thyroglobulin precursor							130.0	105.0	113.0					8																	133931682		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133931682C>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.4440C>A	8.37:g.133931682C>A	ENSP00000220616:p.Phe1480Leu					TG_uc010mdw.2_Missense_Mutation_p.F239L|TG_uc011ljb.1_5'UTR|TG_uc003ytx.1_RNA	p.F1480L	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	21	4481	+	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)	1480			Type II.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4440C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610603	0.66558	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	D;D	0.97575	-4.33;-4.44	5.52	4.64	0.57946	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.534907	0.17099	N	0.187078	D	0.96034	0.8708	M	0.79805	2.47	0.21416	N	0.999695	P	0.43578	0.811	B	0.40602	0.334	D	0.92779	0.6239	10	0.66056	D	0.02	.	9.6003	0.39601	0.0:0.9061:0.0:0.0939	.	1480	P01266	THYG_HUMAN	L	1480;286;1480	ENSP00000367100:F1480L;ENSP00000220616:F1480L	ENSP00000220616:F1480L	F	+	3	2	TG	134000864	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	2.499000	0.45372	2.757000	0.94681	0.655000	0.94253	TTC		0.453	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	51	1	0	0.00307968	0.00308	0.00367105	8	51				
COL22A1	169044	broad.mit.edu	37	8	139668139	139668139	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:139668139C>A	ENST00000303045.6	-	45	3780		c.e45+1		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.?(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TATGCTTTTACCTTAGCCAAG	0.358										HNSCC(7;0.00092)																													uc003yvd.2		NA																	1	Unknown(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.e45+1		collagen, type XXII, alpha 1							234.0	235.0	234.0					8																	139668139		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139668139C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3333+1G>T	8.37:g.139668139C>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Splice_Site_p.K391_splice	p.K1111_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		45	3780	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.3333_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613305	0.46631	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7723	0.85541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139737321	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	4.700000	0.61803	2.642000	0.89623	0.655000	0.94253	.		0.358	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	11	175	1	0	2.27111e-07	0.001368	3.68043e-07	11	175				
DMRT1	1761	broad.mit.edu	37	9	847037	847037	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:847037G>C	ENST00000382276.3	+	2	581	c.432G>C	c.(430-432)gaG>gaC	p.E144D	DMRT1_ENST00000569227.1_5'UTR	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	144					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.E144D(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)		GTGCGGCCGAGCTGCTTGTCA	0.612																																							uc003zgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)GAG>GAC		doublesex and mab-3 related transcription factor							88.0	76.0	80.0					9																	847037		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.chr9:847037G>C	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.432G>C	9.37:g.847037G>C	ENSP00000371711:p.Glu144Asp					DMRT1_uc003zgu.1_Missense_Mutation_p.E144D	p.E144D	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	2	581	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	144					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.432G>C	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	G	1.320	-0.599737	0.03744	.	.	ENSG00000137090	ENST00000382276	T	0.19806	2.12	4.65	-1.25	0.09405	.	0.336653	0.29572	N	0.011774	T	0.11537	0.0281	L	0.37800	1.135	0.45183	D	0.998196	B;B	0.18013	0.025;0.003	B;B	0.20955	0.028;0.032	T	0.12889	-1.0530	10	0.28530	T	0.3	.	2.7225	0.05205	0.2986:0.1216:0.4563:0.1235	.	144;144	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	D	144	ENSP00000371711:E144D	ENSP00000371711:E144D	E	+	3	2	DMRT1	837037	0.012000	0.17670	0.068000	0.19968	0.005000	0.04900	-0.269000	0.08596	0.081000	0.16988	-0.152000	0.13540	GAG		0.612	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		5	57	0	0	0	0.000602	0	5	57				
DMRT3	58524	broad.mit.edu	37	9	990523	990523	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:990523A>G	ENST00000190165.2	+	2	975	c.937A>G	c.(937-939)Atc>Gtc	p.I313V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	313					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.I313V(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)		CAATGGGCACATCTTTGAACA	0.562																																							uc003zgw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(937-939)ATC>GTC		doublesex and mab-3 related transcription factor							131.0	114.0	120.0					9																	990523		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.chr9:990523A>G	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.937A>G	9.37:g.990523A>G	ENSP00000190165:p.Ile313Val						p.I313V	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	975	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	313					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.937A>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	A	2.951	-0.216755	0.06101	.	.	ENSG00000064218	ENST00000190165	T	0.22134	1.97	4.94	-2.48	0.06423	.	0.371972	0.27941	N	0.017240	T	0.09335	0.0230	N	0.14661	0.345	0.23070	N	0.99834	B	0.17465	0.022	B	0.14023	0.01	T	0.33292	-0.9874	10	0.16896	T	0.51	-14.782	10.1114	0.42565	0.2381:0.5483:0.0:0.2136	.	313	Q9NQL9	DMRT3_HUMAN	V	313	ENSP00000190165:I313V	ENSP00000190165:I313V	I	+	1	0	DMRT3	980523	0.728000	0.28080	0.939000	0.37840	0.282000	0.26991	0.128000	0.15810	-0.762000	0.04664	-0.377000	0.06932	ATC		0.562	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		4	61	0	0	0	0.000248	0	4	61				
RFX3	5991	broad.mit.edu	37	9	3257050	3257050	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:3257050T>A	ENST00000382004.3	-	15	2066	c.1755A>T	c.(1753-1755)gaA>gaT	p.E585D	RFX3_ENST00000358730.2_Missense_Mutation_p.E585D|RFX3_ENST00000302303.1_Missense_Mutation_p.E585D	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	585					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E585D(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGGGTCTTCCTTCATAGGGTT	0.458																																							uc003zhr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1753-1755)GAA>GAT		regulatory factor X3 isoform b							137.0	137.0	137.0					9																	3257050		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3257050T>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1755A>T	9.37:g.3257050T>A	ENSP00000371434:p.Glu585Asp					RFX3_uc010mhd.2_Missense_Mutation_p.E585D|RFX3_uc003zhs.1_Missense_Mutation_p.E585D	p.E585D	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	15	2067	-			585					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1755A>T	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.248516	0.59103	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000449234;ENST00000381986;ENST00000458034	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;2.88	5.89	3.59	0.41128	.	0.119624	0.64402	D	0.000008	T	0.45836	0.1362	M	0.78916	2.43	0.54753	D	0.999986	B;B	0.18310	0.022;0.027	B;B	0.20184	0.028;0.015	T	0.29701	-1.0003	10	0.23302	T	0.38	-16.9679	8.9056	0.35521	0.0:0.1585:0.0:0.8415	.	585;585	P48380-2;P48380	.;RFX3_HUMAN	D	585;585;585;50;64;158	ENSP00000371434:E585D;ENSP00000351574:E585D;ENSP00000303847:E585D;ENSP00000415594:E50D;ENSP00000400026:E158D	ENSP00000303847:E585D	E	-	3	2	RFX3	3247050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.016000	0.40971	0.499000	0.27970	0.533000	0.62120	GAA		0.458	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		18	98	0	0	0	0.007413	0	18	98				
PTPRD	5789	broad.mit.edu	37	9	8528611	8528611	+	Missense_Mutation	SNP	C	C	A	rs201846121		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:8528611C>A	ENST00000381196.4	-	12	1064	c.521G>T	c.(520-522)cGt>cTt	p.R174L	PTPRD_ENST00000486161.1_Missense_Mutation_p.R174L|PTPRD_ENST00000397611.3_Missense_Mutation_p.R174L|PTPRD_ENST00000356435.5_Missense_Mutation_p.R174L|PTPRD_ENST00000358503.5_Missense_Mutation_p.R174L|PTPRD_ENST00000397606.3_Missense_Mutation_p.R174L|PTPRD_ENST00000463477.1_Missense_Mutation_p.R174L|PTPRD_ENST00000360074.4_Missense_Mutation_p.R174L|PTPRD_ENST00000397617.3_Missense_Mutation_p.R174L|PTPRD_ENST00000540109.1_Missense_Mutation_p.R174L|PTPRD_ENST00000537002.1_Missense_Mutation_p.R174L|PTPRD_ENST00000355233.5_Missense_Mutation_p.R174L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	174	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R174L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGCTTAATACGACCATTGTT	0.378										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(520-522)CGT>CTT		protein tyrosine phosphatase, receptor type, D							145.0	131.0	136.0					9																	8528611		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8528611C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.521G>T	9.37:g.8528611C>A	ENSP00000370593:p.Arg174Leu	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.R174L|PTPRD_uc003zkq.2_Missense_Mutation_p.R174L|PTPRD_uc003zkr.2_Missense_Mutation_p.R174L|PTPRD_uc003zks.2_Missense_Mutation_p.R174L|PTPRD_uc003zkl.2_Missense_Mutation_p.R174L|PTPRD_uc003zkm.2_Missense_Mutation_p.R174L|PTPRD_uc003zkn.2_Missense_Mutation_p.R174L|PTPRD_uc003zko.2_Missense_Mutation_p.R174L|PTPRD_uc003zkt.1_Missense_Mutation_p.R174L	p.R174L	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	14	1232	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	174			Extracellular (Potential).|Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.521G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323848	0.81580	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.73681	-0.48;-0.48;-0.49;-0.49;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.77	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;P;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.715;1.0;1.0;0.999;0.997	D;D;D;D;D;B;D;D;D;D	0.97110	0.988;1.0;1.0;0.991;1.0;0.228;1.0;0.987;0.952;0.976	D	0.84807	0.0788	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	174;174;174;174;174;174;174;174;174;174	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	174	ENSP00000370593:R174L;ENSP00000348812:R174L;ENSP00000353187:R174L;ENSP00000351293:R174L;ENSP00000347373:R174L;ENSP00000380741:R174L;ENSP00000380735:R174L;ENSP00000440515:R174L;ENSP00000438164:R174L;ENSP00000417093:R174L;ENSP00000380731:R174L;ENSP00000417661:R174L	.	R	-	2	0	PTPRD	8518611	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGT		0.378	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			9	102	1	0	0.000673444	0.008291	0.000838851	9	102				
FAM154A	158297	broad.mit.edu	37	9	18928669	18928669	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:18928669C>A	ENST00000380534.4	-	4	1085	c.806G>T	c.(805-807)tGt>tTt	p.C269F	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.C77F	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	269								p.C269F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AGTGGTGTTACAGAAAGGCAT	0.542																																							uc003zni.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(805-807)TGT>TTT		hypothetical protein LOC158297							95.0	97.0	97.0					9																	18928669		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928669C>A	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.806G>T	9.37:g.18928669C>A	ENSP00000369907:p.Cys269Phe					FAM154A_uc010mip.1_Missense_Mutation_p.C77F	p.C269F	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1084	-			269					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.806G>T	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	c	0.930	-0.713088	0.03206	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.16597	2.33;2.33	4.91	-1.95	0.07548	.	0.947140	0.08823	N	0.888497	T	0.08670	0.0215	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.19148	0.024	T	0.36311	-0.9753	10	0.51188	T	0.08	-1.091	3.8736	0.09047	0.2187:0.4714:0.2002:0.1097	.	269	Q8IYX7	F154A_HUMAN	F	269;77	ENSP00000369907:C269F;ENSP00000438823:C77F	ENSP00000369907:C269F	C	-	2	0	FAM154A	18918669	0.041000	0.20044	0.018000	0.16275	0.072000	0.16883	0.163000	0.16520	-0.217000	0.10033	-0.134000	0.14843	TGT		0.542	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		7	42	1	0	2.0095e-06	0.001984	3.08069e-06	7	42				
MLLT3	4300	broad.mit.edu	37	9	20414102	20414102	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:20414102C>T	ENST00000380338.4	-	5	1028	c.742G>A	c.(742-744)Gtt>Att	p.V248I	MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000429426.2_Missense_Mutation_p.V245I|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	248					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.V248I(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)		ATCTTAGGAACTATTTTCTCT	0.398			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.(742-744)GTT>ATT		myeloid/lymphoid or mixed-lineage leukemia							319.0	326.0	324.0					9																	20414102		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414102C>T	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.742G>A	9.37:g.20414102C>T	ENSP00000369695:p.Val248Ile					MLLT3_uc011lne.1_Missense_Mutation_p.V216I|MLLT3_uc011lnf.1_Missense_Mutation_p.V245I|MLLT3_uc003zof.2_Missense_Mutation_p.V49I	p.V248I	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	1001	-			248					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.742G>A	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506853	0.26949	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.79	5.79	0.91817	.	0.143302	0.46758	N	0.000275	T	0.56630	0.1998	L	0.35723	1.085	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.48210	-0.9055	9	0.37606	T	0.19	-9.8572	20.004	0.97428	0.0:1.0:0.0:0.0	.	245;248	B7Z755;P42568	.;AF9_HUMAN	I	248;245;287	.	ENSP00000369695:V248I	V	-	1	0	MLLT3	20404102	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.665000	0.68052	2.728000	0.93425	0.655000	0.94253	GTT		0.398	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		23	215	0	0	0	0.002299	0	23	215				
IFNA6	3443	broad.mit.edu	37	9	21350457	21350457	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:21350457T>C	ENST00000380210.1	-	1	920	c.430A>G	c.(430-432)Aga>Gga	p.R144G		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	144					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R144G(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AAGTATTTTCTCACAGCCAGG	0.498																																							uc011lni.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(430-432)AGA>GGA		interferon, alpha 6 precursor							227.0	227.0	227.0					9																	21350457		2203	4300	6503	SO:0001583	missense	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350457T>C		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.430A>G	9.37:g.21350457T>C	ENSP00000369558:p.Arg144Gly						p.R144G	NM_021002	NP_066282	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	430	-			144					Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	c.430A>G	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087905	0.55968	.	.	ENSG00000120235	ENST00000380210	T	0.03951	3.75	3.78	3.78	0.43462	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.339950	0.29980	N	0.010704	T	0.19208	0.0461	M	0.82630	2.6	0.18873	N	0.999989	B	0.33637	0.42	P	0.52856	0.711	T	0.01776	-1.1276	10	0.87932	D	0	.	10.3094	0.43699	0.0:0.0:0.0:1.0	.	144	P05013	IFNA6_HUMAN	G	144	ENSP00000369558:R144G	ENSP00000369558:R144G	R	-	1	2	IFNA6	21340457	0.881000	0.30235	0.015000	0.15790	0.005000	0.04900	2.687000	0.46976	1.458000	0.47871	0.482000	0.46254	AGA		0.498	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		10	172	0	0	0	0.008291	0	10	172				
TAF1L	138474	broad.mit.edu	37	9	32633177	32633178	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:32633177_32633178CC>AA	ENST00000242310.4	-	1	2489_2490	c.2400_2401GG>TT	c.(2398-2403)gtGGtt>gtTTtt	p.V801F	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	801					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.V801F(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGCTGGCCAACCACAAAAATAT	0.421																																							uc003zrg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2398-2403)GTGGTT>GTTTTT		TBP-associated factor RNA polymerase 1-like																																				SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633177_32633178CC>AA	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2400_2401delinsAA	9.37:g.32633177_32633178delinsAA	ENSP00000418379:p.Val801Phe					uc003zrh.1_5'Flank	p.V801F	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2490_2491	-			801					Q0VG57	Missense_Mutation	DNP	ENST00000242310.4	37	c.2400_2401GG>TT	CCDS35003.1																																																																																				0.421	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	74	0	0	0	0.004672	0	7	74				
TAF1L	138474	broad.mit.edu	37	9	32633194	32633194	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:32633194A>G	ENST00000242310.4	-	1	2473	c.2384T>C	c.(2383-2385)tTa>tCa	p.L795S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	795					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.L795S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATATCCACTAATTCCCGAAT	0.428																																							uc003zrg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2383-2385)TTA>TCA		TBP-associated factor RNA polymerase 1-like							180.0	180.0	180.0					9																	32633194		2203	4299	6502	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633194A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2384T>C	9.37:g.32633194A>G	ENSP00000418379:p.Leu795Ser					uc003zrh.1_5'Flank	p.L795S	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2474	-			795					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2384T>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249962	0.39797	.	.	ENSG00000122728	ENST00000242310	T	0.15952	2.38	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.207756	0.40728	N	0.001031	T	0.18841	0.0452	L	0.38175	1.15	0.46927	D	0.999256	P	0.38565	0.637	P	0.49502	0.613	T	0.03306	-1.1050	10	0.87932	D	0	.	6.1457	0.20285	1.0:0.0:0.0:0.0	.	795	Q8IZX4	TAF1L_HUMAN	S	795	ENSP00000418379:L795S	ENSP00000418379:L795S	L	-	2	0	TAF1L	32623194	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	5.824000	0.69279	0.530000	0.28619	0.164000	0.16699	TTA		0.428	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			6	73	0	0	0	0.00632	0	6	73				
FANCG	2189	broad.mit.edu	37	9	35074929	35074929	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:35074929C>A	ENST00000378643.3	-	12	2122	c.1631G>T	c.(1630-1632)tGc>tTc	p.C544F	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	544					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.C544F(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CATACCTGGGCACATCTGCAC	0.532			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																															uc003zwb.1		NA	yes	Rec		Fanconi anaemia G	9	9p13	2189	Mis|N|F|S	"""Fanconi anemia, complementation group G"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|lung(1)	4						c.(1630-1632)TGC>TTC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group G							143.0	132.0	136.0					9																	35074929		2203	4300	6503	SO:0001583	missense	2189	FanconAnemia			cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35074929C>A	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1631G>T	9.37:g.35074929C>A	ENSP00000367910:p.Cys544Phe					VCP_uc003zvy.2_5'Flank|VCP_uc003zvz.2_5'Flank|VCP_uc010mkh.1_5'Flank|VCP_uc010mki.1_5'Flank|FANCG_uc003zwa.1_Missense_Mutation_p.C286F|FANCG_uc010mkj.1_Missense_Mutation_p.C286F	p.C544F	NM_004629	NP_004620	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		12	2123	-			544			TPR 4.			Missense_Mutation	SNP	ENST00000378643.3	37	c.1631G>T	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274422	0.59649	.	.	ENSG00000221829	ENST00000378643	T	0.36878	1.23	5.7	2.72	0.32119	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.31513	0.0799	M	0.61703	1.905	0.34680	D	0.724576	B	0.09022	0.002	B	0.08055	0.003	T	0.37709	-0.9694	9	0.72032	D	0.01	-3.7037	4.0899	0.09965	0.2838:0.5001:0.1379:0.0782	.	544	O15287	FANCG_HUMAN	F	544	ENSP00000367910:C544F	ENSP00000367910:C544F	C	-	2	0	FANCG	35064929	0.989000	0.36119	0.985000	0.45067	0.930000	0.56654	0.834000	0.27518	0.735000	0.32537	0.655000	0.94253	TGC		0.532	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		16	54	1	0	1.15088e-07	0.004007	1.89204e-07	16	54				
PAX5	5079	broad.mit.edu	37	9	36966657	36966657	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:36966657C>A	ENST00000358127.4	-	6	743	c.669G>T	c.(667-669)caG>caT	p.Q223H	PAX5_ENST00000520281.1_Missense_Mutation_p.Q180H|PAX5_ENST00000446742.1_Missense_Mutation_p.Q157H|PAX5_ENST00000377853.2_Missense_Mutation_p.Q223H|PAX5_ENST00000523145.1_Missense_Mutation_p.Q115H|PAX5_ENST00000414447.1_Missense_Mutation_p.Q180H|PAX5_ENST00000522003.1_Missense_Mutation_p.Q115H|PAX5_ENST00000523241.1_Missense_Mutation_p.Q223H|PAX5_ENST00000520154.1_Missense_Mutation_p.Q223H|PAX5_ENST00000377852.2_Missense_Mutation_p.Q223H|PAX5_ENST00000377847.2_Missense_Mutation_p.Q223H	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	223					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(41)|p.Q223H(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTCCCCGCATCTGCTTCCGGA	0.587			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																		uc003zzo.1		NA		Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	42	Unknown(41)|Substitution - Missense(1)	p.?(22)	haematopoietic_and_lymphoid_tissue(41)|lung(1)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(667-669)CAG>CAT		paired box 5							99.0	85.0	90.0					9																	36966657		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36966657C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.669G>T	9.37:g.36966657C>A	ENSP00000350844:p.Gln223His					PAX5_uc011lpt.1_5'UTR|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Missense_Mutation_p.Q223H|PAX5_uc011lpx.1_Missense_Mutation_p.Q157H|PAX5_uc011lpy.1_Missense_Mutation_p.Q115H|PAX5_uc010mls.1_Missense_Mutation_p.Q223H|PAX5_uc011lpz.1_Missense_Mutation_p.Q180H|PAX5_uc011lqa.1_Missense_Mutation_p.Q115H|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.Q223H|PAX5_uc010mlp.1_Missense_Mutation_p.Q223H|PAX5_uc011lqc.1_Missense_Mutation_p.Q180H|PAX5_uc010mlr.1_Missense_Mutation_p.Q223H	p.Q223H	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	6	1117	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	223					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.669G>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729259	0.48833	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847;ENST00000524340	D;D;D;D;D;D;D;D;D;D;D;T	0.98192	-4.22;-4.22;-4.18;-4.64;-4.62;-4.76;-3.94;-1.99;-2.53;-4.78;-4.68;1.44	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	L	0.49455	1.56	0.58432	D	0.999995	B;D;B;B;B;B;B;D;B	0.57571	0.001;0.976;0.049;0.003;0.013;0.012;0.001;0.98;0.003	B;P;B;B;B;B;B;D;B	0.66979	0.001;0.459;0.032;0.002;0.013;0.013;0.001;0.948;0.002	D	0.97037	0.9754	10	0.24483	T	0.36	.	13.687	0.62522	0.0:0.9263:0.0:0.0737	.	180;180;157;223;223;223;223;223;223	C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;PAX5_HUMAN	H	223;115;223;223;223;223;180;157;115;115;180;223;31	ENSP00000350844:Q223H;ENSP00000367084:Q223H;ENSP00000367083:Q223H;ENSP00000429637:Q223H;ENSP00000429291:Q223H;ENSP00000430773:Q180H;ENSP00000404687:Q157H;ENSP00000429359:Q115H;ENSP00000429197:Q115H;ENSP00000412188:Q180H;ENSP00000367078:Q223H;ENSP00000429404:Q31H	ENSP00000350844:Q223H	Q	-	3	2	PAX5	36956657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.051000	0.30417	2.568000	0.86640	0.655000	0.94253	CAG		0.587	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			3	38	1	0	0.00024832	0.000248	0.000325365	3	38				
ANKRD20A2	441430	broad.mit.edu	37	9	42368337	42368337	+	5'UTR	SNP	G	G	T	rs184426325	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:42368337G>T	ENST00000377601.2	+	0	35				RP11-216M21.7_ENST00000450520.1_RNA	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						gggtcggggagggggttggTG	0.562																																							uc004acd.2		NA																	0					0						c.(-79--75)GAGGG>GATGG		ankyrin repeat domain 20 family, member A3																																				SO:0001623	5_prime_UTR_variant	441425							g.chr9:42368337G>T		CCDS35028.1	9p12	2013-01-10			ENSG00000183148	ENSG00000183148		"""Ankyrin repeat domain containing"""	31979	protein-coding gene	gene with protein product							Standard	XM_005272519		Approved			Q5SQ80	OTTHUMG00000058641	ENST00000377601.2:c.-78G>T	9.37:g.42368337G>T						ANKRD20A3_uc010mmv.2_Translation_Start_Site		NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN			1	35	+									Translation_Start_Site	SNP	ENST00000377601.2	37	c.-77G>T	CCDS35028.1																																																																																				0.562	ANKRD20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129794.1	NM_001012421		10	9	1	0	0.000442599	0.006214	0.000568128	10	9				
SPATA31A6	389730	broad.mit.edu	37	9	43627193	43627193	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:43627193A>T	ENST00000332857.6	-	4	1522	c.1494T>A	c.(1492-1494)caT>caA	p.H498Q	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	498					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.H498Q(1)									AAGACTGAAGATGGGCCTGAG	0.537																																							uc011lrb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1492-1494)CAT>CAA		hypothetical protein LOC389730							68.0	72.0	71.0					9																	43627193		612	1534	2146	SO:0001583	missense	389730					integral to membrane		g.chr9:43627193A>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1494T>A	9.37:g.43627193A>T	ENSP00000329825:p.His498Gln						p.H498Q	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1523	-			498						Missense_Mutation	SNP	ENST00000332857.6	37	c.1494T>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239452	0.22711	.	.	ENSG00000185775	ENST00000332857	T	0.06449	3.3	2.33	1.17	0.20885	.	0.910350	0.09264	N	0.826156	T	0.04272	0.0118	L	0.28054	0.825	0.09310	N	1	B	0.29270	0.24	B	0.29862	0.108	T	0.47812	-0.9088	10	0.16896	T	0.51	-0.5607	4.0357	0.09729	0.8186:0.0:0.1814:0.0	.	498	Q5VVP1	F75A6_HUMAN	Q	498	ENSP00000329825:H498Q	ENSP00000329825:H498Q	H	-	3	2	FAM75A6	43567189	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.598000	0.05706	0.336000	0.23639	0.324000	0.21423	CAT		0.537	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		18	238	0	0	0	0.008871	0	18	238				
RORB	6096	broad.mit.edu	37	9	77275592	77275592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:77275592G>T	ENST00000396204.2	+	5	730	c.730G>T	c.(730-732)Gag>Tag	p.E244*	RORB_ENST00000376896.3_Nonsense_Mutation_p.E233*			Q92753	RORB_HUMAN	RAR-related orphan receptor B	244	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.E233*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CACCATGGAAGAGCTGCACCA	0.398																																							uc004aji.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(730-732)GAG>TAG		RAR-related orphan receptor B							122.0	121.0	121.0					9																	77275592		2203	4300	6503	SO:0001587	stop_gained	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.chr9:77275592G>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.730G>T	9.37:g.77275592G>T	ENSP00000379507:p.Glu244*					RORB_uc004ajh.2_Nonsense_Mutation_p.E233*	p.E244*	NM_006914	NP_008845	Q92753	RORB_HUMAN			5	779	+			244			Ligand-binding (Potential).		Q8WX73	Nonsense_Mutation	SNP	ENST00000396204.2	37	c.730G>T		.	.	.	.	.	.	.	.	.	.	G	38	6.738823	0.97801	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	.	.	.	6.06	6.06	0.98353	.	0.098210	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	233;244	.	ENSP00000366093:E233X	E	+	1	0	RORB	76465412	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	GAG		0.398	RORB-201	KNOWN	basic	protein_coding	protein_coding				7	84	1	0	0.00198382	0.001984	0.00238984	7	84				
TRPM6	140803	broad.mit.edu	37	9	77397635	77397635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:77397635G>T	ENST00000360774.1	-	22	3291	c.3054C>A	c.(3052-3054)taC>taA	p.Y1018*	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1013*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1013*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.Y1018*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1018*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1018					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Y1018*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATATCATCCAGTATGGCTCAA	0.443																																							uc004ajl.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(3052-3054)TAC>TAA		transient receptor potential cation channel,							147.0	124.0	132.0					9																	77397635		2203	4300	6503	SO:0001587	stop_gained	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77397635G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3054C>A	9.37:g.77397635G>T	ENSP00000354006:p.Tyr1018*					TRPM6_uc004ajk.1_Nonsense_Mutation_p.Y1013*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Nonsense_Mutation_p.Y304*	p.Y1018*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			22	3292	-			1018					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	c.3054C>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	40	7.978565	0.98591	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.92	0.973	0.19710	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.788	0.40688	0.4112:0.0:0.5888:0.0	.	.	.	.	X	1018;1018;1013;1013;1018;681;681	.	ENSP00000309693:Y681X	Y	-	3	2	TRPM6	76587455	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	0.993000	0.29680	0.116000	0.18110	-0.254000	0.11334	TAC		0.443	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		8	52	1	0	1.12685e-05	0.004482	1.66247e-05	8	52				
SPATA31D1	389763	broad.mit.edu	37	9	84609145	84609145	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:84609145G>A	ENST00000344803.2	+	4	3807	c.3760G>A	c.(3760-3762)Gtg>Atg	p.V1254M		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1254					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V1254M(2)									AACTTCCCAGGTGGTGCATGT	0.502																																							uc004amn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3760-3762)GTG>ATG		hypothetical protein LOC389763							158.0	153.0	155.0					9																	84609145		1996	4177	6173	SO:0001583	missense	389763					integral to membrane		g.chr9:84609145G>A		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.3760G>A	9.37:g.84609145G>A	ENSP00000341988:p.Val1254Met						p.V1254M	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3807	+			1254						Missense_Mutation	SNP	ENST00000344803.2	37	c.3760G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938646	0.34189	.	.	ENSG00000214929	ENST00000344803	T	0.08370	3.1	3.04	1.12	0.20585	.	.	.	.	.	T	0.05731	0.0150	L	0.36672	1.1	0.09310	N	1	P	0.41102	0.738	B	0.35413	0.202	T	0.33727	-0.9857	9	0.52906	T	0.07	-3.2779	3.8014	0.08760	0.1335:0.0:0.63:0.2365	.	1254	Q6ZQQ2	F75D1_HUMAN	M	1254	ENSP00000341988:V1254M	ENSP00000341988:V1254M	V	+	1	0	FAM75D1	83798965	0.951000	0.32395	0.022000	0.16811	0.002000	0.02628	2.774000	0.47694	0.299000	0.22661	-0.137000	0.14449	GTG		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		34	96	0	0	0	0.002445	0	34	96				
SECISBP2	79048	broad.mit.edu	37	9	91943769	91943769	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:91943769G>C	ENST00000375807.3	+	5	840	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	SECISBP2_ENST00000339901.4_Missense_Mutation_p.E184Q|SECISBP2_ENST00000534113.2_Missense_Mutation_p.E189Q|SECISBP2_ENST00000470305.1_3'UTR	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	257					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.E257Q(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						TCTTCTAAGAGAAGTAGTAAA	0.408																																							uc004aqj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(769-771)GAA>CAA		SECIS binding protein 2							55.0	54.0	54.0					9																	91943769		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91943769G>C	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.769G>C	9.37:g.91943769G>C	ENSP00000364965:p.Glu257Gln					SECISBP2_uc010mqn.1_Missense_Mutation_p.E257Q|SECISBP2_uc004aqi.1_Missense_Mutation_p.E184Q|SECISBP2_uc011ltk.1_Missense_Mutation_p.E256Q|SECISBP2_uc004aqk.1_Missense_Mutation_p.E184Q|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Missense_Mutation_p.E189Q	p.E257Q	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			5	849	+			257					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.769G>C	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774160	0.49786	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.74209	-0.81;-0.82;-0.82;0.81	4.97	4.05	0.47172	.	0.464913	0.20671	N	0.087836	T	0.66519	0.2797	L	0.29908	0.895	0.09310	N	0.999996	B;D;D;B;D	0.56746	0.264;0.961;0.977;0.264;0.977	B;B;P;B;B	0.47075	0.049;0.335;0.536;0.049;0.439	T	0.58923	-0.7550	10	0.40728	T	0.16	-12.8464	11.3759	0.49728	0.0:0.1826:0.8174:0.0	.	277;256;184;257;189	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	Q	257;277;184;189;92	ENSP00000364965:E257Q;ENSP00000364959:E184Q;ENSP00000436650:E189Q;ENSP00000414288:E92Q	ENSP00000364959:E184Q	E	+	1	0	SECISBP2	91133589	0.024000	0.19004	0.108000	0.21378	0.254000	0.26022	0.171000	0.16685	1.418000	0.47098	0.460000	0.39030	GAA		0.408	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		4	31	0	0	0	0.000602	0	4	31				
SPTLC1	10558	broad.mit.edu	37	9	94821469	94821469	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:94821469C>T	ENST00000262554.2	-	7	687	c.682G>A	c.(682-684)Gat>Aat	p.D228N	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	228					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.D228N(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	ACCTTTTGATCTTCGATCTCT	0.328																																							uc004arl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(682-684)GAT>AAT		serine palmitoyltransferase subunit 1 isoform a	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						73.0	68.0	70.0					9																	94821469		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94821469C>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.682G>A	9.37:g.94821469C>T	ENSP00000262554:p.Asp228Asn					SPTLC1_uc011ltv.1_Missense_Mutation_p.D228N|SPTLC1_uc004arm.1_Missense_Mutation_p.D228N	p.D228N	NM_006415	NP_006406	O15269	SPTC1_HUMAN			7	720	-			228			Cytoplasmic (Potential).		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.682G>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219577	0.95139	.	.	ENSG00000090054	ENST00000262554	D	0.89875	-2.58	5.09	5.09	0.68999	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.045268	0.85682	D	0.000000	D	0.91243	0.7240	M	0.80332	2.49	0.80722	D	1	B;B;B	0.30664	0.007;0.289;0.062	B;B;B	0.37989	0.139;0.262;0.128	D	0.89895	0.4040	10	0.45353	T	0.12	-33.3458	19.0586	0.93078	0.0:1.0:0.0:0.0	.	228;223;228	Q6NUL7;Q59EQ4;O15269	.;.;SPTC1_HUMAN	N	228	ENSP00000262554:D228N	ENSP00000262554:D228N	D	-	1	0	SPTLC1	93861290	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.389000	0.79806	2.822000	0.97130	0.557000	0.71058	GAT		0.328	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		4	19	0	0	0	0.000248	0	4	19				
CENPP	401541	broad.mit.edu	37	9	95099903	95099903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:95099903G>T	ENST00000375587.3	+	3	885	c.370G>T	c.(370-372)Gaa>Taa	p.E124*		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	124					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.E124*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TCAGATTCTGGAAATTCAGGT	0.363																																							uc004arz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(370-372)GAA>TAA		centromere protein P							81.0	85.0	84.0					9																	95099903		2203	4300	6503	SO:0001587	stop_gained	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95099903G>T	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.370G>T	9.37:g.95099903G>T	ENSP00000364737:p.Glu124*					CENPP_uc010mqx.2_Nonsense_Mutation_p.E12*|CENPP_uc004ary.1_Nonsense_Mutation_p.E124*	p.E124*	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN			3	910	+			124					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Nonsense_Mutation	SNP	ENST00000375587.3	37	c.370G>T	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	G	41	8.970657	0.99021	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.2041	16.304	0.82841	0.0:0.0:1.0:0.0	.	.	.	.	X	124;83	.	ENSP00000364737:E124X	E	+	1	0	CENPP	94139724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.411000	0.52672	2.765000	0.95021	0.655000	0.94253	GAA		0.363	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		17	65	1	0	0.00074312	0.006122	0.000924627	17	65				
ZNF169	169841	broad.mit.edu	37	9	97062215	97062215	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:97062215A>T	ENST00000395395.2	+	5	465	c.375A>T	c.(373-375)gcA>gcT	p.A125A	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	125					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.A125A(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCTCATCTGCAGGAGGTGACT	0.512																																							uc004aum.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(373-375)GCA>GCT		zinc finger protein 169							69.0	66.0	67.0					9																	97062215		2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062215A>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.375A>T	9.37:g.97062215A>T							p.A125A	NM_194320	NP_919301	Q14929	ZN169_HUMAN			5	480	+		Acute lymphoblastic leukemia(62;0.136)	125					A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.375A>T	CCDS6709.2																																																																																				0.512	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		4	31	0	0	0	0.000602	0	4	31				
ZNF189	7743	broad.mit.edu	37	9	104170866	104170866	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:104170866A>G	ENST00000339664.2	+	3	945	c.816A>G	c.(814-816)aaA>aaG	p.K272K	ZNF189_ENST00000259395.4_Silent_p.K230K|ZNF189_ENST00000374861.3_Silent_p.K258K	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	272					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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.K272K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TCAGTTGGAAATCACACCTTA	0.413																																							uc004bbh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(814-816)AAA>AAG		zinc finger protein 189 isoform 1							171.0	175.0	174.0					9																	104170866		2203	4300	6503	SO:0001819	synonymous_variant	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170866A>G	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.816A>G	9.37:g.104170866A>G						ZNF189_uc004bbg.1_Silent_p.K230K|ZNF189_uc004bbi.1_Silent_p.K258K|ZNF189_uc011lvk.1_Silent_p.K257K	p.K272K	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	1092	+		Acute lymphoblastic leukemia(62;0.0559)	272			C2H2-type 5.		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Silent	SNP	ENST00000339664.2	37	c.816A>G	CCDS6754.1																																																																																				0.413	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		19	111	0	0	0	0.001523	0	19	111				
TLR4	7099	broad.mit.edu	37	9	120474985	120474985	+	Silent	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:120474985A>C	ENST00000355622.6	+	3	680	c.579A>C	c.(577-579)acA>acC	p.T193T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.T153T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	193					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.T193T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTTATTGCACAGACTTGCGGG	0.378																																							uc004bjz.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(577-579)ACA>ACC		toll-like receptor 4 precursor							77.0	86.0	83.0					9																	120474985		2202	4296	6498	SO:0001819	synonymous_variant	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.chr9:120474985A>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.579A>C	9.37:g.120474985A>C						TLR4_uc004bka.2_Silent_p.T153T|TLR4_uc004bkb.2_5'UTR	p.T193T	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	870	+			193			Extracellular (Potential).|LRR 6.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.579A>C	CCDS6818.1																																																																																				0.378	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		9	51	0	0	0	0.008291	0	9	51				
TLR4	7099	broad.mit.edu	37	9	120475619	120475619	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:120475619G>A	ENST00000355622.6	+	3	1314	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D365N	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	405					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.D405N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AAAGTATTTAGATCTGAGCTT	0.383																																							uc004bjz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1213-1215)GAT>AAT		toll-like receptor 4 precursor							57.0	59.0	58.0					9																	120475619		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.chr9:120475619G>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.1213G>A	9.37:g.120475619G>A	ENSP00000363089:p.Asp405Asn					TLR4_uc004bka.2_Missense_Mutation_p.D365N|TLR4_uc004bkb.2_Missense_Mutation_p.D205N	p.D405N	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1504	+			405			LRR 12.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1213G>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	4.851	0.158121	0.09236	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.01068	5.38;5.38	5.7	2.46	0.29980	.	0.244385	0.35096	N	0.003442	T	0.00695	0.0023	N	0.10945	0.07	0.42105	D	0.991358	B	0.15930	0.015	B	0.26310	0.068	T	0.50004	-0.8878	10	0.07325	T	0.83	.	5.4465	0.16537	0.5429:0.0:0.4571:0.0	.	405	O00206	TLR4_HUMAN	N	365;405	ENSP00000377997:D365N;ENSP00000363089:D405N	ENSP00000363089:D405N	D	+	1	0	TLR4	119515440	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	1.205000	0.32308	0.747000	0.32809	0.650000	0.86243	GAT		0.383	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		8	36	0	0	0	0.004482	0	8	36				
CDK5RAP2	55755	broad.mit.edu	37	9	123253727	123253727	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:123253727C>G	ENST00000349780.4	-	13	1519	c.1340G>C	c.(1339-1341)cGc>cCc	p.R447P	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R447P|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R447P|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R447P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	447					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.R447P(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CACTTCATTGCGTAATTTTTC	0.308																																							uc004bkf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1339-1341)CGC>CCC		CDK5 regulatory subunit associated protein 2							120.0	103.0	109.0					9																	123253727		2202	4298	6500	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123253727C>G	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1340G>C	9.37:g.123253727C>G	ENSP00000343818:p.Arg447Pro					CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R447P|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R447P|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R246P	p.R447P	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			13	1521	-			447					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1340G>C	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355684	0.61293	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.76	0.0383	0.14199	.	0.447189	0.21224	N	0.078084	T	0.51415	0.1673	M	0.65975	2.015	0.31872	N	0.619569	D;D;D;D	0.64830	0.994;0.994;0.992;0.99	P;P;D;P	0.63033	0.891;0.78;0.91;0.608	T	0.55742	-0.8093	10	0.30854	T	0.27	.	7.7419	0.28845	0.0:0.3694:0.0:0.6306	.	248;447;447;447	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	P	447;447;447;447;449	ENSP00000354065:R447P;ENSP00000352258:R447P;ENSP00000343818:R447P;ENSP00000353317:R447P	ENSP00000341695:R449P	R	-	2	0	CDK5RAP2	122293548	0.989000	0.36119	0.992000	0.48379	0.993000	0.82548	1.726000	0.38085	0.083000	0.17047	-0.157000	0.13467	CGC		0.308	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		3	35	0	0	0	0.000248	0	3	35				
OR1N2	138882	broad.mit.edu	37	9	125315694	125315694	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:125315694C>A	ENST00000373688.2	+	1	304	c.246C>A	c.(244-246)aaC>aaA	p.N82K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N82K(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTCTGGCCAACCTGTCATTAA	0.502																																							uc011lyx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(244-246)AAC>AAA		olfactory receptor, family 1, subfamily N,							292.0	275.0	281.0					9																	125315694		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315694C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.246C>A	9.37:g.125315694C>A	ENSP00000362792:p.Asn82Lys						p.N82K	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	246	+			82			Helical; Name=2; (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.246C>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713477	0.48517	.	.	ENSG00000171501	ENST00000373688	T	0.12879	2.64	4.37	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.37571	0.1008	M	0.92268	3.29	0.33363	D	0.572551	D	0.60575	0.988	P	0.62014	0.897	T	0.53514	-0.8428	10	0.87932	D	0	.	6.4563	0.21932	0.0:0.6043:0.0:0.3957	.	82	Q8NGR9	OR1N2_HUMAN	K	82	ENSP00000362792:N82K	ENSP00000362792:N82K	N	+	3	2	OR1N2	124355515	0.001000	0.12720	0.969000	0.41365	0.533000	0.34776	0.397000	0.20883	0.360000	0.24265	-0.142000	0.14014	AAC		0.502	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			7	87	1	0	5.68852e-11	0.004482	1.04061e-10	7	87				
SPTAN1	6709	broad.mit.edu	37	9	131369914	131369914	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:131369914G>T	ENST00000372731.4	+	32	4188	c.4078G>T	c.(4078-4080)Ggg>Tgg	p.G1360W	SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1360W|SPTAN1_ENST00000358161.5_Missense_Mutation_p.G1360W	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1360					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G1360W(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGAATACGGGGGTTGGTGTC	0.522																																					NSCLC(120;833 1744 2558 35612 37579)	NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(4078-4080)GGG>TGG		spectrin, alpha, non-erythrocytic 1							190.0	188.0	188.0					9																	131369914		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131369914G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4078G>T	9.37:g.131369914G>T	ENSP00000361816:p.Gly1360Trp					SPTAN1_uc004bvm.3_Missense_Mutation_p.G1360W|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1340W	p.G1360W	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			32	4191	+			1360			Spectrin 15.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4078G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967421	0.92855	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.50548	0.74;0.74;0.74	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.977;0.999;0.999	T	0.75141	-0.3422	10	0.87932	D	0	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	1340;1360;1360	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	W	1360;1360;1360;1340	ENSP00000350882:G1360W;ENSP00000361816:G1360W;ENSP00000361824:G1360W	ENSP00000350882:G1360W	G	+	1	0	SPTAN1	130409735	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.420000	0.97426	2.814000	0.96858	0.655000	0.94253	GGG		0.522	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		11	92	1	0	6.40141e-05	0.000978	8.8683e-05	11	92				
DOLPP1	57171	broad.mit.edu	37	9	131847036	131847036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:131847036G>T	ENST00000372546.4	+	2	198	c.166G>T	c.(166-168)Gag>Tag	p.E56*	DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Nonsense_Mutation_p.E56*	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	56					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)	p.E56*(1)		endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ATTTAAGCGGGAGCTGCACAC	0.607																																							uc004bxc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(166-168)GAG>TAG		dolichyl pyrophosphate phosphatase 1 isoform a							295.0	261.0	273.0					9																	131847036		2203	4300	6503	SO:0001587	stop_gained	57171				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	g.chr9:131847036G>T	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.166G>T	9.37:g.131847036G>T	ENSP00000361625:p.Glu56*					DOLPP1_uc004bxd.2_Nonsense_Mutation_p.E56*|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_5'Flank	p.E56*	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN			2	194	+			56					A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Nonsense_Mutation	SNP	ENST00000372546.4	37	c.166G>T	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	G	36	5.887594	0.97068	.	.	ENSG00000167130	ENST00000372546;ENST00000406974	.	.	.	5.53	5.53	0.82687	.	0.045176	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.0436	18.0236	0.89262	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000361625:E56X	E	+	1	0	DOLPP1	130886857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.893000	0.92498	2.596000	0.87737	0.561000	0.74099	GAG		0.607	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		9	187	1	0	0.000442599	0.006214	0.000568128	9	187				
PPAPDC3	84814	broad.mit.edu	37	9	134165627	134165627	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:134165627C>A	ENST00000372264.3	+	1	547	c.243C>A	c.(241-243)gcC>gcA	p.A81A	PPAPDC3_ENST00000372261.1_Silent_p.A81A	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	81	interaction with MTOR. {ECO:0000250}.				negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)	p.A81A(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		AGGGCATCGCCTTCAACTCCC	0.662																																							uc004cal.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(241-243)GCC>GCA		phosphatidic acid phosphatase type 2 domain							78.0	75.0	76.0					9																	134165627		2203	4300	6503	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165627C>A	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.243C>A	9.37:g.134165627C>A							p.A81A	NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	547	+	all_hematologic(7;0.0119)		81			interaction with MTOR (By similarity).|Cytoplasmic (Potential).		Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.243C>A	CCDS6942.1																																																																																				0.662	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		10	75	1	0	6.42651e-13	0.000978	1.21675e-12	10	75				
C9orf171	389799	broad.mit.edu	37	9	135357749	135357749	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:135357749C>A	ENST00000343036.2	+	2	296	c.248C>A	c.(247-249)gCg>gAg	p.A83E	C9orf171_ENST00000393215.3_Intron|C9orf171_ENST00000393216.2_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	83								p.A83E(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTCCTCAGCGGTGCAGAAA	0.493																																							uc004cbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(247-249)GCG>GAG		hypothetical protein LOC389799							98.0	92.0	94.0					9																	135357749		2203	4300	6503	SO:0001583	missense	389799							g.chr9:135357749C>A	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.248C>A	9.37:g.135357749C>A	ENSP00000343290:p.Ala83Glu					C9orf171_uc004cbo.2_Intron	p.A83E	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			2	296	+			83					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.248C>A	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847196	0.32606	.	.	ENSG00000188523	ENST00000343036	T	0.23552	1.9	4.99	-0.882	0.10604	.	1.184190	0.06333	N	0.706615	T	0.10465	0.0256	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.31586	-0.9938	10	0.10111	T	0.7	.	3.6507	0.08202	0.4339:0.2864:0.0:0.2798	.	83	Q6ZQR2	CI171_HUMAN	E	83	ENSP00000343290:A83E	ENSP00000343290:A83E	A	+	2	0	C9orf171	134347570	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.245000	0.02899	-0.388000	0.07797	-0.169000	0.13324	GCG		0.493	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		8	46	1	0	0.000274275	0.004482	0.000355681	8	46				
BARHL1	56751	broad.mit.edu	37	9	135464640	135464640	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:135464640G>A	ENST00000263610.2	+	3	1328	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	BARHL1_ENST00000542090.1_Missense_Mutation_p.V239I	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	239					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.V239I(1)		cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		ACAGACGGCCGTCGGGTTGGA	0.612																																							uc004cbp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(715-717)GTC>ATC		BarH-like homeobox 1							67.0	75.0	72.0					9																	135464640		2197	4286	6483	SO:0001583	missense	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135464640G>A	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.715G>A	9.37:g.135464640G>A	ENSP00000263610:p.Val239Ile						p.V239I	NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	3	907	+			239					Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	c.715G>A	CCDS6950.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354189	0.95830	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.91124	-2.79;-2.79	4.93	4.93	0.64822	Homeobox (1);Homeodomain-like (1);	0.073952	0.53938	D	0.000059	D	0.92328	0.7566	M	0.62723	1.935	0.80722	D	1	D	0.60160	0.987	P	0.52514	0.701	D	0.93182	0.6575	10	0.72032	D	0.01	.	16.8786	0.86058	0.0:0.0:1.0:0.0	.	239	Q9BZE3	BARH1_HUMAN	I	239	ENSP00000263610:V239I;ENSP00000444704:V239I	ENSP00000263610:V239I	V	+	1	0	BARHL1	134454461	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	9.371000	0.97162	2.555000	0.86185	0.655000	0.94253	GTC		0.612	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			18	97	0	0	0	0.001523	0	18	97				
SURF6	6838	broad.mit.edu	37	9	136198959	136198959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:136198959C>A	ENST00000372022.4	-	5	1097	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	278					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E278*(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TTCACGCCCTCCGCCTTGTAG	0.682																																							uc004cdb.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(832-834)GAG>TAG		surfeit 6							71.0	66.0	68.0					9																	136198959		2203	4300	6503	SO:0001587	stop_gained	6838					granular component	DNA binding|RNA binding	g.chr9:136198959C>A	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.832G>T	9.37:g.136198959C>A	ENSP00000361092:p.Glu278*						p.E278*	NM_006753	NP_006744	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	910	-			278					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Nonsense_Mutation	SNP	ENST00000372022.4	37	c.832G>T	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	C	38	7.264437	0.98171	.	.	ENSG00000148296	ENST00000372022	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-37.6185	17.6029	0.88030	0.0:1.0:0.0:0.0	.	.	.	.	X	278	.	ENSP00000361092:E278X	E	-	1	0	SURF6	135188780	1.000000	0.71417	0.952000	0.39060	0.907000	0.53573	7.120000	0.77153	2.387000	0.81309	0.467000	0.42956	GAG		0.682	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		16	66	1	0	3.41278e-10	0.00499	6.12468e-10	16	66				
ASMT	438	broad.mit.edu	37	X	1748721	1748721	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:1748721G>T	ENST00000381229.4	+	5	487	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	ASMT_ENST00000381233.3_Missense_Mutation_p.G151C|ASMT_ENST00000381241.3_Missense_Mutation_p.G151C|ASMT_ENST00000509780.1_Intron			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	151			G -> S (in dbSNP:rs192710293). {ECO:0000269|PubMed:23349736}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)	p.G151C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	CAGGTCCGAGGGCGAGCGGCT	0.572																																							uc004cqd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(451-453)GGC>TGC		acetylserotonin O-methyltransferase							320.0	276.0	291.0					X																	1748721		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1748721G>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.451G>T	X.37:g.1748721G>T	ENSP00000370627:p.Gly151Cys					ASMT_uc010ncy.2_Missense_Mutation_p.G151C|ASMT_uc004cqe.2_Missense_Mutation_p.G151C	p.G151C	NM_004043	NP_004034	P46597	HIOM_HUMAN			6	596	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	151					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.451G>T		.	.	.	.	.	.	.	.	.	.	g	15.29	2.789876	0.50102	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.20200	2.09;2.09;2.09	1.45	1.45	0.22620	.	0.740779	0.11982	U	0.510688	T	0.27169	0.0666	L	0.36672	1.1	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.55303	0.773;0.773	T	0.13335	-1.0513	10	0.87932	D	0	.	9.823	0.40894	0.0:0.0:1.0:0.0	.	151;151	P46597-2;P46597-3	.;.	C	151	ENSP00000370639:G151C;ENSP00000370627:G151C;ENSP00000370631:G151C	ENSP00000370627:G151C	G	+	1	0	ASMT	1708721	1.000000	0.71417	0.719000	0.30619	0.148000	0.21650	6.327000	0.72910	0.439000	0.26476	0.100000	0.15512	GGC		0.572	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		11	77	1	0	2.27111e-07	0.001368	3.68043e-07	11	77				
MXRA5	25878	broad.mit.edu	37	X	3239784	3239784	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:3239784T>A	ENST00000217939.6	-	5	4096	c.3942A>T	c.(3940-3942)ccA>ccT	p.P1314P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1314						extracellular vesicular exosome (GO:0070062)		p.P1314P(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)				TATATGTGACTGGAAGTGTCT	0.363													T|||	1	0.000264901	0.0	0.0	3775	,	,		15609	0.001		0.0	False		,,,				2504	0.0						uc004crg.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3940-3942)CCA>CCT		adlican precursor							153.0	138.0	143.0					X																	3239784		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3239784T>A	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.3942A>T	X.37:g.3239784T>A							p.P1314P	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4099	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1314					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.3942A>T	CCDS14124.1																																																																																				0.363	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		11	41	0	0	0	0.001855	0	11	41				
AMELX	265	broad.mit.edu	37	X	11316810	11316810	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:11316810C>T	ENST00000380714.3	+	5	355	c.287C>T	c.(286-288)cCc>cTc	p.P96L	ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.P110L|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380736.1_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	96					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)	p.P110L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCCGTGATCCCCCAGCAACCA	0.632																																							uc004cut.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CCC>CTC		amelogenin (X chromosome) isoform 1 precursor							151.0	125.0	134.0					X																	11316810		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316810C>T		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.287C>T	X.37:g.11316810C>T	ENSP00000370090:p.Pro96Leu					ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.P110L|AMELX_uc004cuu.2_Missense_Mutation_p.P80L	p.P96L	NM_001142	NP_001133	Q99217	AMELX_HUMAN			5	355	+			96					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.287C>T	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762651	0.49574	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.93906	-3.31;-3.31;-3.31	5.17	4.31	0.51392	.	0.185755	0.37012	N	0.002298	D	0.95868	0.8655	M	0.91249	3.19	0.58432	D	0.999991	P;P;P	0.41366	0.703;0.747;0.703	B;P;P	0.49853	0.342;0.624;0.49	D	0.95426	0.8512	10	0.62326	D	0.03	-0.9086	12.0436	0.53466	0.0:0.9122:0.0:0.0878	.	80;96;110	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	L	96;110;80	ENSP00000370090:P96L;ENSP00000370088:P110L;ENSP00000335312:P80L	ENSP00000335312:P80L	P	+	2	0	AMELX	11226731	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.736000	0.62059	0.981000	0.38548	0.415000	0.27848	CCC		0.632	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		3	53	0	0	0	0.000248	0	3	53				
TLR7	51284	broad.mit.edu	37	X	12905856	12905856	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:12905856A>T	ENST00000380659.3	+	3	2368	c.2229A>T	c.(2227-2229)ctA>ctT	p.L743L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	743					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.L743L(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGTATTTTCTACAAGATGCCT	0.403																																							uc004cvc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(2227-2229)CTA>CTT		toll-like receptor 7 precursor	Imiquimod(DB00724)						65.0	64.0	64.0					X																	12905856		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905856A>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2229A>T	X.37:g.12905856A>T							p.L743L	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2368	+			743			LRR 25.|Extracellular (Potential).		D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.2229A>T	CCDS14151.1																																																																																				0.403	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		4	33	0	0	0	0.000248	0	4	33				
TLR8	51311	broad.mit.edu	37	X	12940186	12940186	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:12940186G>A	ENST00000218032.6	+	2	3114	c.3027G>A	c.(3025-3027)aaG>aaA	p.K1009K	TLR8_ENST00000311912.5_Silent_p.K1027K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	1009	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.K1027K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACAACCCGAAGGCAGAAGGCT	0.443																																							uc004cve.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(3025-3027)AAG>AAA		toll-like receptor 8 precursor							126.0	120.0	122.0					X																	12940186		2203	4300	6503	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12940186G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.3027G>A	X.37:g.12940186G>A						TLR8_uc004cvd.2_Silent_p.K1027K	p.K1009K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	3095	+			1009			Cytoplasmic (Potential).|TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.3027G>A	CCDS14152.1																																																																																				0.443	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		9	44	0	0	0	0.004482	0	9	44				
EGFL6	25975	broad.mit.edu	37	X	13641992	13641992	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:13641992G>T	ENST00000361306.1	+	10	1490	c.1233G>T	c.(1231-1233)tgG>tgT	p.W411C	EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Missense_Mutation_p.W412C	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	411	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.W412C(1)|p.W411C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TCTGTGACTGGAAACAGGATA	0.368																																							uc004cvi.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(1231-1233)TGG>TGT		epidermal growth factor-like protein 6							166.0	146.0	153.0					X																	13641992		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13641992G>T	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1233G>T	X.37:g.13641992G>T	ENSP00000355126:p.Trp411Cys					EGFL6_uc004cvj.2_Missense_Mutation_p.W412C	p.W411C	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN			10	1473	+			411			MAM.		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.1233G>T	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499024	0.64298	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.05025	3.51;3.51	4.68	4.68	0.58851	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.43261	-0.9402	10	0.87932	D	0	.	17.1165	0.86690	0.0:0.0:1.0:0.0	.	412;411	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	C	411;412	ENSP00000355126:W411C;ENSP00000369976:W412C	ENSP00000355126:W411C	W	+	3	0	EGFL6	13551913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.744000	0.74854	2.050000	0.60909	0.589000	0.80489	TGG		0.368	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		4	28	1	0	0.000602214	0.000602	0.000754262	4	28				
EIF1AX	1964	broad.mit.edu	37	X	20156717	20156717	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:20156717T>A	ENST00000379607.5	-	2	243	c.40A>T	c.(40-42)Agg>Tgg	p.R14W	snoU2_19_ENST00000364722.1_RNA|EIF1AX_ENST00000379593.1_Intron|snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	14					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R14W(1)		endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTCTTACCCCTGCGTCTGTTT	0.303																																							uc004czt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)AGG>TGG		X-linked eukaryotic translation initiation							155.0	145.0	148.0					X																	20156717		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156717T>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.40A>T	X.37:g.20156717T>A	ENSP00000368927:p.Arg14Trp					SCARNA9L_uc010nfp.2_5'Flank	p.R14W	NM_001412	NP_001403	P47813	IF1AX_HUMAN			2	248	-			14					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.40A>T	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.879891	0.51801	.	.	ENSG00000173674	ENST00000379607	T	0.48836	0.8	4.94	3.68	0.42216	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.73273	0.3566	H	0.95816	3.725	0.80722	D	1	D	0.56968	0.978	D	0.65233	0.933	T	0.79759	-0.1668	9	0.87932	D	0	-4.7953	9.8861	0.41262	0.0:0.0:0.4235:0.5765	.	14	P47813	IF1AX_HUMAN	W	14	ENSP00000368927:R14W	ENSP00000368927:R14W	R	-	1	2	EIF1AX	20066638	1.000000	0.71417	0.972000	0.41901	0.478000	0.33099	6.400000	0.73252	1.753000	0.51906	0.486000	0.48141	AGG		0.303	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			8	34	0	0	0	0.004482	0	8	34				
DMD	1756	broad.mit.edu	37	X	32862918	32862918	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:32862918C>A	ENST00000357033.4	-	4	452	c.246G>T	c.(244-246)cgG>cgT	p.R82R	DMD_ENST00000378677.2_Silent_p.R78R|DMD_ENST00000288447.4_Silent_p.R74R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	82	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R82R(1)|p.R78R(1)|p.R77R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTGCAAAACCCGCAGTGCCT	0.463																																							uc004dda.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(244-246)CGG>CGT		dystrophin Dp427m isoform							190.0	134.0	153.0					X																	32862918		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32862918C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.246G>T	X.37:g.32862918C>A						DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Silent_p.R78R|DMD_uc004ddb.1_Silent_p.R74R|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.R74R|DMD_uc010ngq.1_RNA|DMD_uc010ngr.1_Intron	p.R82R	NM_004006	NP_003997	P11532	DMD_HUMAN			4	490	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	82			CH 1.|Actin-binding.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.246G>T	CCDS14233.1																																																																																				0.463	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	15	1	0	0.000602214	0.000602	0.000754262	4	15				
FAM47C	442444	broad.mit.edu	37	X	37027104	37027104	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:37027104G>T	ENST00000358047.3	+	1	673	c.621G>T	c.(619-621)gtG>gtT	p.V207V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	207								p.V207V(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						AGACTCCGGTGTCCAGTCTCC	0.647																																							uc004ddl.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(619-621)GTG>GTT		hypothetical protein LOC442444							28.0	30.0	29.0					X																	37027104		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027104G>T	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.621G>T	X.37:g.37027104G>T							p.V207V	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	635	+			207					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.621G>T	CCDS35227.1																																																																																				0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	23	1	0	0.004672	0.004672	0.00544907	3	23				
PRRG1	5638	broad.mit.edu	37	X	37312649	37312649	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:37312649G>T	ENST00000542554.1	+	5	704	c.432G>T	c.(430-432)ttG>ttT	p.L144F	PRRG1_ENST00000449135.2_Missense_Mutation_p.L144F|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Missense_Mutation_p.L144F|PRRG1_ENST00000543642.1_Missense_Mutation_p.L144F|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	144						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L144F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GCAGTGGATTGTCTCCAGGCT	0.532																																							uc004ddn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(430-432)TTG>TTT		proline rich Gla (G-carboxyglutamic acid) 1							114.0	109.0	111.0					X																	37312649		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312649G>T	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.432G>T	X.37:g.37312649G>T	ENSP00000444278:p.Leu144Phe					PRRG1_uc004ddo.2_Missense_Mutation_p.L144F	p.L144F	NM_000950	NP_000941	O14668	TMG1_HUMAN			5	685	+			144			Cytoplasmic (Potential).		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.432G>T	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855156	0.32791	.	.	ENSG00000130962	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000449135	D;D;D;D;D	0.99051	-5.36;-5.37;-5.36;-5.36;-5.36	6.16	2.45	0.29901	.	0.188762	0.41396	D	0.000899	D	0.95066	0.8402	N	0.19112	0.55	0.38268	D	0.942077	B	0.29085	0.232	B	0.21360	0.034	D	0.91137	0.4942	10	0.52906	T	0.07	-7.1682	5.3253	0.15903	0.3234:0.1352:0.5413:0.0	.	144	O14668	TMG1_HUMAN	F	144	ENSP00000367894:L144F;ENSP00000418384:L144F;ENSP00000444278:L144F;ENSP00000443271:L144F;ENSP00000390332:L144F	ENSP00000367894:L144F	L	+	3	2	PRRG1	37197570	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	1.270000	0.33086	0.314000	0.23086	-0.215000	0.12644	TTG		0.532	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		12	23	1	0	4.3838e-07	0.001855	6.98457e-07	12	23				
NYX	60506	broad.mit.edu	37	X	41333679	41333679	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:41333679G>T	ENST00000342595.2	+	2	1429	c.973G>T	c.(973-975)Ggc>Tgc	p.G325C	NYX_ENST00000378220.1_Missense_Mutation_p.G325C	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	325					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.G325C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTTCCAGCCCGGCTTCTTCCT	0.677																																							uc004dfh.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(973-975)GGC>TGC		nyctalopin precursor							39.0	35.0	37.0					X																	41333679		2201	4298	6499	SO:0001583	missense	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333679G>T	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.973G>T	X.37:g.41333679G>T	ENSP00000340328:p.Gly325Cys					NYX_uc011mku.1_Missense_Mutation_p.G320C	p.G325C	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN			2	1403	+			325					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	c.973G>T	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522198	0.64747	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.79352	-1.26;-1.26	5.34	5.34	0.76211	.	0.183243	0.47093	D	0.000249	T	0.79753	0.4500	N	0.25201	0.72	0.40413	D	0.97976	D	0.76494	0.999	P	0.60236	0.871	T	0.82957	-0.0199	10	0.59425	D	0.04	.	18.2076	0.89859	0.0:0.0:1.0:0.0	.	325	Q9GZU5	NYX_HUMAN	C	325	ENSP00000340328:G325C;ENSP00000367465:G325C	ENSP00000340328:G325C	G	+	1	0	NYX	41218623	1.000000	0.71417	0.960000	0.40013	0.977000	0.68977	3.426000	0.52778	2.238000	0.73509	0.600000	0.82982	GGC		0.677	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		3	18	1	0	1.23904e-05	0.000602	1.80687e-05	3	18				
KIAA2022	340533	broad.mit.edu	37	X	73961230	73961230	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:73961230A>T	ENST00000055682.6	-	3	3773	c.3162T>A	c.(3160-3162)gaT>gaA	p.D1054E		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1054					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.D1054E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGTTGGATATATCCAGGAGGT	0.498																																							uc004eby.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3160-3162)GAT>GAA		hypothetical protein LOC340533							79.0	75.0	76.0					X																	73961230		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73961230A>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3162T>A	X.37:g.73961230A>T	ENSP00000055682:p.Asp1054Glu						p.D1054E	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	3779	-			1054					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3162T>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448970	0.63178	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.55234	0.53;0.53	5.28	2.95	0.34219	.	0.047345	0.85682	D	0.000000	T	0.55986	0.1955	L	0.34521	1.04	0.49130	D	0.999758	D	0.89917	1.0	D	0.91635	0.999	T	0.54944	-0.8217	10	0.59425	D	0.04	-14.8425	5.8366	0.18611	0.5228:0.0:0.4772:0.0	.	1054	Q5QGS0	K2022_HUMAN	E	1054	ENSP00000362567:D1054E;ENSP00000055682:D1054E	ENSP00000055682:D1054E	D	-	3	2	KIAA2022	73877955	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.913000	0.39956	0.679000	0.31345	0.486000	0.48141	GAT		0.498	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		4	41	0	0	0	0.000248	0	4	41				
PCDH11X	27328	broad.mit.edu	37	X	91134011	91134011	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:91134011A>T	ENST00000373094.1	+	2	3617	c.2772A>T	c.(2770-2772)acA>acT	p.T924T	PCDH11X_ENST00000361655.2_Silent_p.T924T|PCDH11X_ENST00000373088.1_Silent_p.T924T|PCDH11X_ENST00000361724.1_Silent_p.T924T|PCDH11X_ENST00000504220.2_Silent_p.T924T|PCDH11X_ENST00000373097.1_Silent_p.T924T|PCDH11X_ENST00000395337.2_Silent_p.T924T|PCDH11X_ENST00000406881.1_Silent_p.T924T|PCDH11X_ENST00000298274.8_Silent_p.T924T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	924					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.T924T(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						GGGTAACTACACCTACTACTT	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(2)	2						c.(2770-2772)ACA>ACT		protocadherin 11 X-linked isoform c							182.0	157.0	166.0					X																	91134011		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134011A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2772A>T	X.37:g.91134011A>T						PCDH11X_uc004efl.1_Silent_p.T924T|PCDH11X_uc004efo.1_Silent_p.T924T|PCDH11X_uc010nmv.1_Silent_p.T924T|PCDH11X_uc004efm.1_Silent_p.T924T|PCDH11X_uc004efn.1_Silent_p.T924T|PCDH11X_uc004efh.1_Silent_p.T924T|PCDH11X_uc004efj.1_Silent_p.T924T	p.T924T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3617	+			924			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2772A>T	CCDS14461.1																																																																																				0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		20	47	0	0	0	0.008871	0	20	47				
ZMAT1	84460	broad.mit.edu	37	X	101138771	101138771	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:101138771C>A	ENST00000372782.3	-	7	1675	c.1628G>T	c.(1627-1629)cGa>cTa	p.R543L	ZMAT1_ENST00000458570.1_Missense_Mutation_p.R372L|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R543L|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	543						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R372L(1)|p.R543L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTAGGTGTCGTTTTCTCTT	0.388																																							uc004eim.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1114-1116)CGA>CTA		zinc finger, matrin type 1 isoform 3							207.0	168.0	181.0					X																	101138771		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138771C>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1628G>T	X.37:g.101138771C>A	ENSP00000361868:p.Arg543Leu					ZMAT1_uc011mrl.1_Missense_Mutation_p.R543L|ZMAT1_uc004ein.2_Missense_Mutation_p.R372L|ZMAT1_uc011mrm.1_Missense_Mutation_p.R372L	p.R372L	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4613	-			372					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1115G>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950428	0.53186	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27256	2.17;2.17;1.68	3.84	2.02	0.26589	.	0.166911	0.35615	N	0.003097	T	0.38746	0.1052	M	0.68593	2.085	0.09310	N	0.999998	D	0.71674	0.998	P	0.61800	0.894	T	0.14172	-1.0482	10	0.87932	D	0	-2.2548	5.6523	0.17622	0.1945:0.6927:0.0:0.1128	.	543	Q5H9K5	ZMAT1_HUMAN	L	543;543;372	ENSP00000361868:R543L;ENSP00000437529:R543L;ENSP00000413044:R372L	ENSP00000361868:R543L	R	-	2	0	ZMAT1	101025427	0.003000	0.15002	0.113000	0.21522	0.978000	0.69477	0.631000	0.24568	0.392000	0.25172	0.600000	0.82982	CGA		0.388	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			7	41	1	0	1.06961e-07	0.00308	1.76868e-07	7	41				
TCEAL8	90843	broad.mit.edu	37	X	102508698	102508698	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:102508698C>G	ENST00000372685.3	-	3	446	c.210G>C	c.(208-210)ttG>ttC	p.L70F	TCEAL8_ENST00000360000.4_Missense_Mutation_p.L70F	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	70					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L70F(1)		kidney(2)|lung(1)|ovary(1)	4						CTTCAGGGTCCAAATGCCTAA	0.473																																							uc004ejx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(208-210)TTG>TTC		transcription elongation factor A (SII)-like 8							238.0	191.0	207.0					X																	102508698		2203	4300	6503	SO:0001583	missense	90843				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102508698C>G	AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.210G>C	X.37:g.102508698C>G	ENSP00000361770:p.Leu70Phe					TCEAL8_uc004ejy.2_Missense_Mutation_p.L70F	p.L70F	NM_153333	NP_699164	Q8IYN2	TCAL8_HUMAN			3	437	-			70						Missense_Mutation	SNP	ENST00000372685.3	37	c.210G>C	CCDS14504.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426614	0.43020	.	.	ENSG00000180964	ENST00000360000;ENST00000372685;ENST00000451678	T;T;T	0.12465	2.68;2.68;2.68	4.52	4.52	0.55395	.	0.000000	0.38837	N	0.001554	T	0.26231	0.0640	L	0.43152	1.355	0.32652	N	0.519216	D	0.76494	0.999	D	0.91635	0.999	T	0.07908	-1.0748	10	0.30854	T	0.27	-11.5856	11.5276	0.50588	0.0:1.0:0.0:0.0	.	70	Q8IYN2	TCAL8_HUMAN	F	70;70;37	ENSP00000353093:L70F;ENSP00000361770:L70F;ENSP00000390880:L37F	ENSP00000353093:L70F	L	-	3	2	TCEAL8	102395354	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.838000	0.48199	2.493000	0.84123	0.600000	0.82982	TTG		0.473	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1	NM_153333		14	56	0	0	0	0.001855	0	14	56				
PLP1	5354	broad.mit.edu	37	X	103041621	103041621	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:103041621A>G	ENST00000303958.2	+	3	565	c.419A>G	c.(418-420)cAt>cGt	p.H140R	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000418604.1_Missense_Mutation_p.H140R	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	140			H -> Y (in SPG2). {ECO:0000269|PubMed:8012387}.|Missing (in HLD1).	H -> T (in Ref. 7; AAA60117). {ECO:0000305}.	astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.H140R(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CGGGTGTGTCATTGTTTGGGA	0.557																																							uc010nov.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(418-420)CAT>CGT		proteolipid protein 1 isoform 1							144.0	124.0	130.0					X																	103041621		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103041621A>G	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.419A>G	X.37:g.103041621A>G	ENSP00000305152:p.His140Arg					RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.H140R|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.H85R|PLP1_uc010now.1_Missense_Mutation_p.H144R|PLP1_uc010nox.2_Missense_Mutation_p.H94R	p.H140R	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			4	699	+			140	H -> T (in Ref. 7; AAA60117).	H -> Y (in SPG2).|Missing (in HLD1).	Cytoplasmic (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.419A>G	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	A	0.981	-0.697032	0.03279	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000428755	D;D	0.98835	-5.17;-5.17	5.78	5.78	0.91487	.	0.078171	0.53938	D	0.000049	D	0.92189	0.7523	N	0.03608	-0.345	0.31173	N	0.702976	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	D	0.85860	0.1409	10	0.02654	T	1	-14.7535	7.5728	0.27918	0.905:0.0:0.095:0.0	.	85;140;140	B4DI30;A8K9L3;P60201	.;.;MYPR_HUMAN	R	140;140;118	ENSP00000405750:H140R;ENSP00000305152:H140R	ENSP00000305152:H140R	H	+	2	0	PLP1	102928277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.969000	0.63735	1.931000	0.55961	0.486000	0.48141	CAT		0.557	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			8	59	0	0	0	0.004482	0	8	59				
VSIG1	340547	broad.mit.edu	37	X	107315961	107315961	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:107315961C>A	ENST00000217957.5	+	4	584	c.467C>A	c.(466-468)aCt>aAt	p.T156N	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000415430.3_Missense_Mutation_p.T192N	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	156	Ig-like C2-type 2.					integral component of membrane (GO:0016021)		p.T192N(2)|p.T156N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ACTGGCCACACTATTTCCCTT	0.443																																							uc004eno.2		NA																	3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(466-468)ACT>AAT		V-set and immunoglobulin domain containing 1							237.0	182.0	200.0					X																	107315961		2203	4300	6503	SO:0001583	missense	340547					integral to membrane		g.chrX:107315961C>A	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.467C>A	X.37:g.107315961C>A	ENSP00000217957:p.Thr156Asn					VSIG1_uc011msk.1_Missense_Mutation_p.T192N	p.T156N	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN			4	628	+			156			Extracellular (Potential).|Ig-like C2-type 2.		C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.467C>A	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	C	5.825	0.336509	0.11013	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.11063	2.81;2.81	5.01	3.23	0.37069	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.026500	0.07729	N	0.944903	T	0.07503	0.0189	N	0.21448	0.665	0.09310	N	1	P;P	0.48407	0.91;0.822	P;B	0.44772	0.46;0.355	T	0.07271	-1.0781	10	0.06494	T	0.89	.	4.5599	0.12154	0.0:0.6204:0.1806:0.1991	.	192;156	C9J4P2;Q86XK7	.;VSIG1_HUMAN	N	192;156	ENSP00000402219:T192N;ENSP00000217957:T156N	ENSP00000217957:T156N	T	+	2	0	VSIG1	107202617	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.373000	0.34272	0.602000	0.29896	-0.191000	0.12829	ACT		0.443	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		9	58	1	0	0.000673444	0.008291	0.000838851	9	58				
GUCY2F	2986	broad.mit.edu	37	X	108631743	108631743	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:108631743G>T	ENST00000218006.2	-	15	3222	c.2931C>A	c.(2929-2931)gtC>gtA	p.V977V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	977	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.V977V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTCGAATTCGGACCGGCACTT	0.448																																							uc004eod.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(2929-2931)GTC>GTA		guanylate cyclase 2F precursor							141.0	129.0	133.0					X																	108631743		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108631743G>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2931C>A	X.37:g.108631743G>T						GUCY2F_uc011msq.1_RNA	p.V977V	NM_001522	NP_001513	P51841	GUC2F_HUMAN			15	3207	-			977			Guanylate cyclase.|Cytoplasmic (Potential).		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.2931C>A	CCDS14545.1																																																																																				0.448	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		16	62	1	0	4.14922e-12	0.004007	7.76526e-12	16	62				
CAPN6	827	broad.mit.edu	37	X	110494471	110494471	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:110494471G>C	ENST00000324068.1	-	7	1104	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	CAPN6_ENST00000541758.1_Missense_Mutation_p.L58V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	313	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.L313V(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACAAGCCCCAGGTTCTTGCGA	0.393																																							uc004epc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(937-939)CTG>GTG		calpain 6							47.0	41.0	43.0					X																	110494471		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494471G>C	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.937C>G	X.37:g.110494471G>C	ENSP00000317214:p.Leu313Val					CAPN6_uc011msu.1_Missense_Mutation_p.L58V	p.L313V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			7	1105	-			313			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.937C>G	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762079	0.31228	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90620	-2.7;-2.7	5.82	1.95	0.26073	Peptidase C2, calpain, catalytic domain (3);	0.257368	0.33732	N	0.004618	D	0.90542	0.7036	M	0.70275	2.135	0.52099	D	0.999944	P	0.46395	0.877	P	0.49953	0.627	D	0.88302	0.2950	10	0.56958	D	0.05	.	7.6589	0.28392	0.2593:0.0:0.6303:0.1104	.	313	Q9Y6Q1	CAN6_HUMAN	V	313;58	ENSP00000317214:L313V;ENSP00000441736:L58V	ENSP00000317214:L313V	L	-	1	2	CAPN6	110381127	0.848000	0.29623	0.999000	0.59377	0.220000	0.24768	1.092000	0.30927	0.623000	0.30267	-1.102000	0.02115	CTG		0.393	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			4	26	0	0	0	0.000602	0	4	26				
TRPC5	7224	broad.mit.edu	37	X	111155830	111155830	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:111155830G>A	ENST00000262839.2	-	3	1507	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	197					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L197L(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGATGTTCAGTCGGGAGCGA	0.567																																							uc004epl.1		NA																	1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)	1						c.(589-591)CTG>TTG		transient receptor potential cation channel,							112.0	102.0	106.0					X																	111155830		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111155830G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.589C>T	X.37:g.111155830G>A						TRPC5_uc004epm.1_Silent_p.L197L	p.L197L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			3	1508	-			197			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.589C>T	CCDS14561.1																																																																																				0.567	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		18	50	0	0	0	0.00499	0	18	50				
HTR2C	3358	broad.mit.edu	37	X	114141823	114141823	+	Missense_Mutation	SNP	G	G	T	rs201575153		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:114141823G>T	ENST00000276198.1	+	6	1950	c.1222G>T	c.(1222-1224)Ggg>Tgg	p.G408W	HTR2C_ENST00000371951.1_Missense_Mutation_p.G408W|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	408					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.G408W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGCTTTGTCTGGGAGGGAGCT	0.453																																							uc004epu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1222-1224)GGG>TGG		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						98.0	100.0	99.0					X																	114141823		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141823G>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1222G>T	X.37:g.114141823G>T	ENSP00000276198:p.Gly408Trp					HTR2C_uc010nqc.1_Missense_Mutation_p.G408W|HTR2C_uc004epv.1_3'UTR	p.G408W	NM_000868	NP_000859	P28335	5HT2C_HUMAN			6	1950	+			408			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.1222G>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617428	0.46736	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.58797	0.31;0.31	4.75	4.75	0.60458	.	0.068723	0.64402	D	0.000016	T	0.70202	0.3197	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.73088	-0.4093	10	0.66056	D	0.02	.	14.127	0.65228	0.0:0.0:1.0:0.0	.	408	P28335	5HT2C_HUMAN	W	408	ENSP00000276198:G408W;ENSP00000361019:G408W	ENSP00000276198:G408W	G	+	1	0	HTR2C	114048079	1.000000	0.71417	0.968000	0.41197	0.409000	0.31022	3.141000	0.50593	2.205000	0.71048	0.292000	0.19580	GGG		0.453	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		9	41	1	0	1.12685e-05	0.004482	1.66247e-05	9	41				
BCORL1	63035	broad.mit.edu	37	X	129147031	129147031	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:129147031C>T	ENST00000218147.7	+	4	480	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	BCORL1_ENST00000303743.5_Missense_Mutation_p.P95S|BCORL1_ENST00000359304.2_Missense_Mutation_p.P95S|BCORL1_ENST00000540052.1_Missense_Mutation_p.P95S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	95					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P95S(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCTGACGATCCCCAGCCAAA	0.597																																							uc004evb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(283-285)CCC>TCC		BCL6 co-repressor-like 1							49.0	46.0	47.0					X																	129147031		2202	4298	6500	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147031C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.283C>T	X.37:g.129147031C>T	ENSP00000218147:p.Pro95Ser					BCORL1_uc010nrd.1_5'UTR	p.P95S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	397	+			95					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.283C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505404	0.26949	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.39592	1.08;1.44;1.07;1.08	5.28	1.08	0.20341	.	0.489229	0.15315	N	0.268844	T	0.16685	0.0401	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19582	-1.0301	10	0.07482	T	0.82	-0.1126	0.9612	0.01396	0.1769:0.3526:0.2204:0.2501	.	95	Q5H9F3	BCORL_HUMAN	S	95	ENSP00000218147:P95S;ENSP00000307541:P95S;ENSP00000352253:P95S;ENSP00000437775:P95S	ENSP00000218147:P95S	P	+	1	0	BCORL1	128974712	0.002000	0.14202	0.267000	0.24556	0.855000	0.48748	-0.330000	0.07925	0.084000	0.17077	0.529000	0.55759	CCC		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	27	0	0	0	0.000248	0	4	27				
ARHGAP36	158763	broad.mit.edu	37	X	130219600	130219600	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:130219600C>A	ENST00000276211.5	+	8	1339	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L196M|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L320M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	332	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L332M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCTGCAGTTGCTGGTCTACCT	0.527																																							uc004evz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(994-996)CTG>ATG		hypothetical protein LOC158763 precursor							211.0	213.0	212.0					X																	130219600		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130219600C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.994C>A	X.37:g.130219600C>A	ENSP00000276211:p.Leu332Met					ARHGAP36_uc004ewa.2_Missense_Mutation_p.L320M|ARHGAP36_uc004ewb.2_Missense_Mutation_p.L301M|ARHGAP36_uc004ewc.2_Missense_Mutation_p.L196M	p.L332M	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			8	1339	+			332			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.994C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309971	0.60414	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	4.88	4.02	0.46733	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.37178	N	0.002215	T	0.55862	0.1947	M	0.92833	3.35	0.51233	D	0.999913	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.61118	-0.7127	10	0.87932	D	0	.	7.8746	0.29586	0.0:0.8862:0.0:0.1138	.	301;320;332	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	M	332;320;301;196	ENSP00000276211:L332M;ENSP00000359960:L320M;ENSP00000408515:L301M;ENSP00000359959:L196M	ENSP00000276211:L332M	L	+	1	2	ARHGAP36	130047281	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.929000	0.63455	1.040000	0.40099	0.600000	0.82982	CTG		0.527	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		17	123	1	0	1.5739e-10	0.004007	2.85159e-10	17	123				
SLC9A6	10479	broad.mit.edu	37	X	135098852	135098852	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:135098852A>G	ENST00000370698.3	+	10	1224	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	SLC9A6_ENST00000370695.4_Missense_Mutation_p.M429V|SLC9A6_ENST00000370701.1_Missense_Mutation_p.M377V	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	397					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.M397V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCCTACATGGGGCTGAC	0.333																																							uc004ezj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1189-1191)ATG>GTG		solute carrier family 9 (sodium/hydrogen							134.0	113.0	120.0					X																	135098852		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135098852A>G	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1189A>G	X.37:g.135098852A>G	ENSP00000359732:p.Met397Val					SLC9A6_uc004ezk.2_Missense_Mutation_p.M429V	p.M397V	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			10	1265	+	Acute lymphoblastic leukemia(192;0.000127)		397			Helical; (Potential).		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1189A>G	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.081593	0.55753	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.11277	2.79;2.79;2.79	5.67	5.67	0.87782	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.13415	0.0325	N	0.17872	0.535	0.80722	D	1	P;P	0.37500	0.537;0.597	B;P	0.46885	0.237;0.53	T	0.08006	-1.0743	10	0.72032	D	0.01	.	14.0302	0.64610	1.0:0.0:0.0:0.0	.	429;397	Q92581-2;Q92581	.;SL9A6_HUMAN	V	377;397;429	ENSP00000359735:M377V;ENSP00000359732:M397V;ENSP00000359729:M429V	ENSP00000359729:M429V	M	+	1	0	SLC9A6	134926518	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.962000	0.93254	1.911000	0.55334	0.486000	0.48141	ATG		0.333	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		4	28	0	0	0	0.001168	0	4	28				
GPR112	139378	broad.mit.edu	37	X	135431491	135431491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:135431491C>T	ENST00000394143.1	+	6	5917	c.5626C>T	c.(5626-5628)Caa>Taa	p.Q1876*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1876*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1813*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1671*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1671*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1876					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q1876K(1)|p.Q1876*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TAGTAATACCCAACCTCTGCT	0.433																																							uc004ezu.1		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5626-5628)CAA>TAA		G-protein coupled receptor 112							124.0	116.0	119.0					X																	135431491		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431491C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5626C>T	X.37:g.135431491C>T	ENSP00000377699:p.Gln1876*					GPR112_uc010nsb.1_Nonsense_Mutation_p.Q1671*|GPR112_uc010nsc.1_Nonsense_Mutation_p.Q1643*	p.Q1876*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5917	+	Acute lymphoblastic leukemia(192;0.000127)		1876			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.5626C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	45	11.329988	0.99547	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	3.78	-0.752	0.11072	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	2.0238	0.03514	0.1903:0.3179:0.3682:0.1236	.	.	.	.	X	1876;1876;1671;1813;1671	.	ENSP00000287534:Q1813X	Q	+	1	0	GPR112	135259157	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	0.054000	0.14205	0.098000	0.17522	0.530000	0.56133	CAA		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			9	40	0	0	0	0.004482	0	9	40				
MAGEC3	139081	broad.mit.edu	37	X	140983191	140983192	+	Splice_Site	DNP	AA	AA	TT			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:140983191_140983192AA>TT	ENST00000298296.1	+	5	1046_1047	c.1046_1047AA>TT	c.(1045-1047)cAA>cTT	p.Q349L	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101L|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	349	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Q349L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAATCCTCAAGGTAAGGGCC	0.579																																							uc011mwp.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1045-1047)CAA>CTT		melanoma antigen family C, 3 isoform 1																																				SO:0001630	splice_region_variant	139081							g.chrX:140983191_140983192AA>TT	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	Exception_encountered	X.37:g.140983191_140983192delinsTT						MAGEC3_uc004fbs.2_5'UTR|MAGEC3_uc010nsj.2_5'Flank	p.Q349L	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			5	1046_1047	+	Acute lymphoblastic leukemia(192;6.56e-05)		349			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	DNP	ENST00000298296.1	37	c.1046_1047AA>TT	CCDS14676.1																																																																																				0.579	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	Missense_Mutation	9	36	0	0	0	0.004672	0	9	36				
PDZD4	57595	broad.mit.edu	37	X	153070179	153070179	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:153070179G>T	ENST00000164640.4	-	8	1130	c.939C>A	c.(937-939)cgC>cgA	p.R313R	PDZD4_ENST00000393758.2_Silent_p.R238R|PDZD4_ENST00000544474.1_Silent_p.R204R|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	313						cytoplasm (GO:0005737)		p.R313R(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAAACTTGCGCAGGCTTC	0.682																																							uc004fiz.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(937-939)CGC>CGA		PDZ domain containing 4							46.0	39.0	42.0					X																	153070179		2203	4297	6500	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153070179G>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.939C>A	X.37:g.153070179G>T						PDZD4_uc004fiy.1_Silent_p.R238R|PDZD4_uc004fix.2_Silent_p.R217R|PDZD4_uc004fja.1_Silent_p.R319R|PDZD4_uc011mze.1_Silent_p.R204R	p.R313R	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			8	1189	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		313					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.939C>A	CCDS14732.1																																																																																				0.682	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		5	13	1	0	1.23904e-05	0.000602	1.80687e-05	5	13				
HIVEP3	59269	broad.mit.edu	37	1	42047882	42047882	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:42047882delC	ENST00000372583.1	-	4	3472	c.2587delG	c.(2587-2589)gagfs	p.E863fs	HIVEP3_ENST00000372584.1_Frame_Shift_Del_p.E863fs|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.E863fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.E863fs|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	863	Acidic 2.|Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGGTCAGGCTCCTCAGTTACT	0.617																																							uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2587-2589)GAGfs		human immunodeficiency virus type I enhancer							65.0	75.0	72.0					1																	42047882		2203	4300	6503	SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047882delC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2587delG	1.37:g.42047882delC	ENSP00000361664:p.Glu863fs					HIVEP3_uc001cha.3_Frame_Shift_Del_p.E863fs|HIVEP3_uc001cgy.2_RNA	p.E863fs	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3800	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	863			Acidic 2.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Glu/Pro-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Del	DEL	ENST00000372583.1	37	c.2587delG	CCDS463.1																																																																																				0.617	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	138	NA	NA	NA	NA	NA	7	138	---	---	---	---
CRTC2	200186	broad.mit.edu	37	1	153924914	153924915	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:153924914_153924915delTG	ENST00000368633.1	-	9	837_838	c.710_711delCA	c.(709-711)tcafs	p.S240fs	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	240	Poly-Ser.				gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGAAGAGGATGAGGATAGCTG	0.54																																							uc010ped.1		NA																	0				ovary(2)	2						c.(709-711)TCAfs		CREB regulated transcription coactivator 2																																				SO:0001589	frameshift_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924914_153924915delTG	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.710_711delCA	1.37:g.153924914_153924915delTG	ENSP00000357622:p.Ser240fs					CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR	p.S237fs	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	780_781	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		237			Poly-Ser.		Q6UUV8|Q7Z3X7|Q8N332	Frame_Shift_Del	DEL	ENST00000368633.1	37	c.710_711delCA	CCDS30875.1																																																																																				0.540	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		19	92	NA	NA	NA	NA	NA	19	92	---	---	---	---
RALGPS2	55103	broad.mit.edu	37	1	178858785	178858785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:178858785delG	ENST00000367635.3	+	14	1539	c.1201delG	c.(1201-1203)gatfs	p.D401fs	RALGPS2_ENST00000367634.2_Frame_Shift_Del_p.D401fs|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	401					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGGTAGCAGCGATGGTTCTGA	0.318																																							uc001glz.2		NA																	0					0						c.(1201-1203)GATfs		Ral GEF with PH domain and SH3 binding motif 2							127.0	139.0	135.0					1																	178858785		2203	4300	6503	SO:0001589	frameshift_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178858785delG	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1201delG	1.37:g.178858785delG	ENSP00000356607:p.Asp401fs					RALGPS2_uc010pnb.1_Frame_Shift_Del_p.D401fs	p.D401fs	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			14	1539	+			401					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Frame_Shift_Del	DEL	ENST00000367635.3	37	c.1201delG	CCDS1325.1																																																																																				0.318	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		14	142	NA	NA	NA	NA	NA	14	142	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220195814	220195829	+	Frame_Shift_Del	DEL	GCTCCCTTTTTTCATT	GCTCCCTTTTTTCATT	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GCTCCCTTTTTTCATT	GCTCCCTTTTTTCATT	-	-	GCTCCCTTTTTTCATT	GCTCCCTTTTTTCATT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:220195814_220195829delGCTCCCTTTTTTCATT	ENST00000366923.3	-	9	1244_1259	c.975_990delAATGAAAAAAGGGAGC	c.(973-990)gaaatgaaaaaagggagcfs	p.EMKKGS325fs		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	325	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GACCAAACTGGCTCCCTTTTTTCATTTCTTCCCACA	0.352																																							uc001hly.1		NA																	0				ovary(1)|skin(1)	2						c.(973-990)GAAATGAAAAAAGGGAGCfs		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)																																			SO:0001589	frameshift_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220195814_220195829delGCTCCCTTTTTTCATT	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.975_990delAATGAAAAAAGGGAGC	1.37:g.220195814_220195829delGCTCCCTTTTTTCATT	ENSP00000355890:p.Glu325fs					EPRS_uc010puf.1_Frame_Shift_Del_p.E76fs|EPRS_uc001hlz.1_Frame_Shift_Del_p.E325fs|EPRS_uc009xdt.1_Frame_Shift_Del_p.E126fs	p.E325fs	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	9	1245_1260	-			325_330			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Frame_Shift_Del	DEL	ENST00000366923.3	37	c.975_990delAATGAAAAAAGGGAGC	CCDS31027.1																																																																																				0.352	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		8	147	NA	NA	NA	NA	NA	8	147	---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229657378	229657378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:229657378delC	ENST00000344517.4	-	11	1953	c.1911delG	c.(1909-1911)gggfs	p.G637fs	ABCB10_ENST00000498158.1_5'Flank	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	637	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTGTTTCTGCCCACCTGACA	0.378																																							uc001htp.3		NA																	0				breast(2)	2						c.(1909-1911)GGGfs		ATP-binding cassette, sub-family B, member 10							59.0	63.0	62.0					1																	229657378		2203	4300	6503	SO:0001589	frameshift_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229657378delC	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1911delG	1.37:g.229657378delC	ENSP00000355637:p.Gly637fs						p.G637fs	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			11	1954	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	637			Mitochondrial intermembrane (Potential).|ABC transporter.|Mitochondrial matrix (Potential).		Q13040|Q6P1Q8|Q9H3V0	Frame_Shift_Del	DEL	ENST00000344517.4	37	c.1911delG	CCDS1580.1																																																																																				0.378	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		13	45	NA	NA	NA	NA	NA	13	45	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947550	237947550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237947550delG	ENST00000366574.2	+	90	12855	c.12538delG	c.(12538-12540)ggcfs	p.G4181fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.G4187fs|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Frame_Shift_Del_p.G4165fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4181					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G4178C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCAACGAAGGCGGAGAGAA	0.502																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12538-12540)GGCfs		cardiac muscle ryanodine receptor							89.0	93.0	92.0					1																	237947550		1979	4177	6156	SO:0001589	frameshift_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947550delG	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12538delG	1.37:g.237947550delG	ENSP00000355533:p.Gly4181fs					RYR2_uc010pya.1_Frame_Shift_Del_p.G595fs	p.G4180fs	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12658	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4180					Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.12538delG	CCDS55691.1																																																																																				0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	69	NA	NA	NA	NA	NA	11	69	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238050766	238050766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:238050766delG	ENST00000366570.4	-	5	807	c.649delC	c.(649-651)cttfs	p.L217fs	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	217	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)			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)			TCATTCCTAAGGGCCAAGCGC	0.512																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	0				ovary(2)|skin(1)	3						c.(649-651)CTTfs		zona pellucida glycoprotein 4 preproprotein							165.0	153.0	157.0					1																	238050766		2203	4300	6503	SO:0001589	frameshift_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.chr1:238050766delG	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.649delC	1.37:g.238050766delG	ENSP00000355529:p.Leu217fs					LOC100130331_uc010pyc.1_Intron	p.L217fs	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	649	-	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)	217			ZP.|Extracellular (Potential).		B2RAE1	Frame_Shift_Del	DEL	ENST00000366570.4	37	c.649delC	CCDS1615.1																																																																																				0.512	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			10	58	NA	NA	NA	NA	NA	10	58	---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248085108	248085109	+	Frame_Shift_Ins	INS	-	-	A	rs4625315	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248085108_248085109insA	ENST00000319968.4	+	1	789_790	c.789_790insA	c.(790-792)aggfs	p.R264fs		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAAATCCCACAGGTCCACTAA	0.49																																							uc010pzc.1		NA																	0					0						c.(787-792)CACAGGfs		olfactory receptor, family 2, subfamily T,																																				SO:0001589	frameshift_variant	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085108_248085109insA		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.790dupA	1.37:g.248085109_248085109dupA	ENSP00000326225:p.Arg264fs						p.H263fs	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	789_790	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	263_264			Extracellular (Potential).			Frame_Shift_Ins	INS	ENST00000319968.4	37	c.789_790insA	CCDS31100.1																																																																																				0.490	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		12	62	NA	NA	NA	NA	NA	12	62	---	---	---	---
CFAP58	159686	broad.mit.edu	37	10	106160471	106160471	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:106160471delC	ENST00000369704.3	+	13	1983	c.1849delC	c.(1849-1851)cttfs	p.L617fs	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		617						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGGGTCTCAGCTTGTTCGGCG	0.502																																							uc001kyh.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1849-1851)CTTfs		coiled-coil domain containing 147							162.0	134.0	143.0					10																	106160471		2203	4300	6503	SO:0001589	frameshift_variant	159686							g.chr10:106160471delC																												ENST00000369704.3:c.1849delC	10.37:g.106160471delC	ENSP00000358718:p.Leu617fs						p.L617fs	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	13	1983	+		Colorectal(252;0.103)|Breast(234;0.122)	617					D3DRA6|Q8NA27	Frame_Shift_Del	DEL	ENST00000369704.3	37	c.1849delC	CCDS31282.1																																																																																				0.502	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			11	90	NA	NA	NA	NA	NA	11	90	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33564707	33564708	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:33564707_33564708insA	ENST00000321505.4	+	1	887_888	c.707_708insA	c.(706-711)gggtccfs	p.S237fs	KIAA1549L_ENST00000389726.3_Frame_Shift_Ins_p.S237fs|KIAA1549L_ENST00000265654.5_Frame_Shift_Ins_p.S237fs			Q6ZVL6	K154L_HUMAN	KIAA1549-like	237						integral component of membrane (GO:0016021)											GGCAGTGATGGGTCCCCTCCTG	0.515											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001mup.3		NA																	0				ovary(2)	2						c.(706-708)GGGfs		hypothetical protein LOC25758																																				SO:0001589	frameshift_variant	25758					integral to membrane		g.chr11:33564707_33564708insA	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	Exception_encountered	11.37:g.33564707_33564708insA	ENSP00000315295:p.Ser237fs		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	C11orf41_uc001mun.1_Frame_Shift_Ins_p.G236fs	p.G236fs	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	831_832	+			236					B0QYU0	Frame_Shift_Ins	INS	ENST00000321505.4	37	c.707_708insA	CCDS44565.2																																																																																				0.515	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		12	63	NA	NA	NA	NA	NA	12	63	---	---	---	---
OR5A2	219981	broad.mit.edu	37	11	59189613	59189613	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:59189613delC	ENST00000302040.4	-	1	836	c.814delG	c.(814-816)gacfs	p.D272fs		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D272Y(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACCACCTTGTCCCTGTTTAGG	0.473																																							uc010rkt.1		NA																	1	Substitution - Missense(1)		skin(1)		0						c.(814-816)GACfs		olfactory receptor, family 5, subfamily A,							88.0	84.0	85.0					11																	59189613		2201	4295	6496	SO:0001589	frameshift_variant	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189613delC	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.814delG	11.37:g.59189613delC	ENSP00000303834:p.Asp272fs						p.D272fs	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	814	-			272			Extracellular (Potential).		B9EH21|Q6IFF4|Q96RB0	Frame_Shift_Del	DEL	ENST00000302040.4	37	c.814delG	CCDS31560.1																																																																																				0.473	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		8	55	NA	NA	NA	NA	NA	8	55	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7639141	7639141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:7639141delC	ENST00000359156.4	-	10	2614	c.2412delG	c.(2410-2412)gggfs	p.G804fs	CD163_ENST00000396620.3_Frame_Shift_Del_p.G837fs|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Frame_Shift_Del_p.G792fs|CD163_ENST00000432237.2_Frame_Shift_Del_p.G804fs	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	804	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AATTTTGCTGCCCCCAGCCGT	0.478																																							uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(2410-2412)GGGfs		CD163 antigen isoform a							109.0	111.0	110.0					12																	7639141		2203	4300	6503	SO:0001589	frameshift_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639141delC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2412delG	12.37:g.7639141delC	ENSP00000352071:p.Gly804fs					CD163_uc001qta.3_Frame_Shift_Del_p.G804fs|CD163_uc009zfw.2_Frame_Shift_Del_p.G837fs	p.G804fs	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			10	2540	-			804			SRCR 7.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Frame_Shift_Del	DEL	ENST00000359156.4	37	c.2412delG	CCDS8578.1																																																																																				0.478	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		8	115	NA	NA	NA	NA	NA	8	115	---	---	---	---
ORAI3	93129	broad.mit.edu	37	16	30964748	30964748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:30964748delG	ENST00000318663.4	+	2	695	c.471delG	c.(469-471)ctgfs	p.L157fs	ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Frame_Shift_Del_p.L157fs|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	157					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCACTGCCCTGGGCACCTTTC	0.587											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002eac.2		NA																	0					0						c.(469-471)CTGfs		ORAI calcium release-activated calcium modulator							128.0	140.0	136.0					16																	30964748		2197	4300	6497	SO:0001589	frameshift_variant	93129					integral to membrane	protein binding	g.chr16:30964748delG	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.471delG	16.37:g.30964748delG	ENSP00000322249:p.Leu157fs		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821		p.L157fs	NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN			2	677	+			157			Helical; (Potential).		Q96BI8	Frame_Shift_Del	DEL	ENST00000318663.4	37	c.471delG	CCDS10697.1																																																																																				0.587	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		19	170	NA	NA	NA	NA	NA	19	170	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18682089	18682090	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:18682089_18682090delGA	ENST00000395665.4	+	14	2858_2859	c.2637_2638delGA	c.(2635-2640)gtgaaafs	p.K880fs	TVP23B_ENST00000476139.1_5'Flank|TVP23B_ENST00000574226.1_5'Flank|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000308799.4_Frame_Shift_Del_p.K889fs|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.K879fs|FBXW10_ENST00000301938.4_Frame_Shift_Del_p.K827fs			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	880										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTATAGATGTGAAACGAACCAG	0.446																																							uc002guk.2		NA																	0				ovary(1)	1						c.(2635-2640)GTGAAAfs		F-box and WD-40 domain protein 10																																				SO:0001589	frameshift_variant	10517							g.chr17:18682089_18682090delGA	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2637_2638delGA	17.37:g.18682089_18682090delGA	ENSP00000379025:p.Lys880fs					FBXW10_uc002guj.2_Frame_Shift_Del_p.V878fs|FBXW10_uc002gul.2_Frame_Shift_Del_p.V888fs|FBXW10_uc010cqh.1_Frame_Shift_Del_p.V826fs|FAM18B_uc002gum.2_5'Flank	p.V879fs	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			14	2869_2870	+			879_880					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Frame_Shift_Del	DEL	ENST00000395665.4	37	c.2637_2638delGA	CCDS11199.3																																																																																				0.446	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		13	90	NA	NA	NA	NA	NA	13	90	---	---	---	---
DDA1	79016	broad.mit.edu	37	19	17426798	17426799	+	Frame_Shift_Ins	INS	-	-	A	rs148196076	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:17426798_17426799insA	ENST00000359866.4	+	4	316_317	c.192_193insA	c.(193-195)aaafs	p.K65fs		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	65										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						AGCAATGGGACAAAAAGGTGAG	0.554																																							uc002ngd.2		NA																	0				ovary(1)	1						c.(190-195)GACAAAfs		DET1 and DDB1 associated 1																																				SO:0001589	frameshift_variant	79016							g.chr19:17426798_17426799insA	BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 58"""	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.197dupA	19.37:g.17426803_17426803dupA	ENSP00000352928:p.Lys65fs					DDA1_uc002nge.2_Frame_Shift_Ins_p.Q3fs	p.D64fs	NM_024050	NP_076955	Q9BW61	DDA1_HUMAN			4	319_320	+			64_65						Frame_Shift_Ins	INS	ENST00000359866.4	37	c.192_193insA	CCDS12357.1																																																																																				0.554	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		31	221	NA	NA	NA	NA	NA	31	221	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22939803	22939804	+	IGR	DEL	GA	GA	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:22939803_22939804delGA	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Frame_Shift_Del_p.S843fs|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCTAAGGGCTGAGAAATTGCTA	0.347																																							uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2527-2529)TCAfs		zinc finger protein 99																																				SO:0001628	intergenic_variant	7652							g.chr19:22939803_22939804delGA	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939805_22939806delGA							p.S843fs	NM_001080409	NP_001073878					6	2527_2528	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Frame_Shift_Del	DEL	ENST00000596209.1	37	c.2527_2528delTC	CCDS59369.1																																																																																				0.347	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		15	99	NA	NA	NA	NA	NA	15	99	---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9561157	9561158	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:9561157_9561158insT	ENST00000378429.3	-	5	1170_1171	c.624_625insA	c.(622-627)aaaccafs	p.P209fs	PAK7_ENST00000353224.5_Frame_Shift_Ins_p.P209fs|RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.P209fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	209	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)			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)			TATTCACTTGGTTTGCTCAGTG	0.47																																							uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(622-627)AAACCAfs		p21-activated kinase 7																																				SO:0001589	frameshift_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561157_9561158insT	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.625dupA	20.37:g.9561160_9561160dupT	ENSP00000367686:p.Pro209fs					PAK7_uc002wnk.2_Frame_Shift_Ins_p.K208fs|PAK7_uc002wnj.2_Frame_Shift_Ins_p.K208fs|PAK7_uc010gby.1_Frame_Shift_Ins_p.K208fs	p.K208fs	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1169_1170	-			208_209			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Frame_Shift_Ins	INS	ENST00000378429.3	37	c.624_625insA	CCDS13107.1																																																																																				0.470	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			7	106	NA	NA	NA	NA	NA	7	106	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57768672	57768672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:57768672delA	ENST00000371030.2	+	1	2598	c.2598delA	c.(2596-2598)ccafs	p.P866fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	866							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			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)					GGGAGGTGCCAGGGGGCTCAA	0.652																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(2596-2598)CCAfs		zinc finger protein 831							32.0	38.0	36.0					20																	57768672		1951	4144	6095	SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768672delA	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.2598delA	20.37:g.57768672delA	ENSP00000360069:p.Pro866fs						p.P866fs	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2598	+	all_lung(29;0.0085)		866					Q5TDR4|Q8TCP0	Frame_Shift_Del	DEL	ENST00000371030.2	37	c.2598delA	CCDS42894.1																																																																																				0.652	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		10	62	NA	NA	NA	NA	NA	10	62	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24537496	24537497	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:24537496_24537497delAG	ENST00000264463.4	-	3	1025_1026	c.518_519delCT	c.(517-519)tctfs	p.S173fs		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	173	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TACCTACAACAGACATTTCGGG	0.322										HNSCC(23;0.051)																													uc003jgr.1		NA																	0		p.S173P(1)		ovary(6)|pancreas(4)|breast(2)	12						c.(517-519)TCTfs		cadherin 10, type 2 preproprotein																																				SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537496_24537497delAG	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.518_519delCT	5.37:g.24537496_24537497delAG	ENSP00000264463:p.Ser173fs	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.S173fs	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	850_851	-			173			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.518_519delCT	CCDS3892.1																																																																																				0.322	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		13	153	NA	NA	NA	NA	NA	13	153	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150925237	150925237	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:150925237delG	ENST00000261800.5	-	9	5463	c.5451delC	c.(5449-5451)cccfs	p.P1817fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1817	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCCATGCTGGGATCAATTT	0.423																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(5449-5451)CCCfs		FAT tumor suppressor 2 precursor							52.0	54.0	53.0					5																	150925237		2203	4300	6503	SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925237delG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5451delC	5.37:g.150925237delG	ENSP00000261800:p.Pro1817fs					GM2A_uc011dcs.1_Intron	p.P1817fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5464	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1817			Extracellular (Potential).|Cadherin 16.		O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.5451delC	CCDS4317.1																																																																																				0.423	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		9	51	NA	NA	NA	NA	NA	9	51	---	---	---	---
ZNF184	7738	broad.mit.edu	37	6	27419414	27419415	+	Frame_Shift_Ins	INS	-	-	G	rs533816831		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:27419414_27419415insG	ENST00000211936.6	-	6	2207_2208	c.1923_1924insC	c.(1921-1926)ccctacfs	p.Y642fs	ZNF184_ENST00000377419.1_Frame_Shift_Ins_p.Y642fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P641P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACACTGGTAGGGTTTTTCTT	0.426																																							uc003njj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1921-1926)CCCTACfs		zinc finger protein 184																																				SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419414_27419415insG	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1924dupC	6.37:g.27419417_27419417dupG	ENSP00000211936:p.Tyr642fs					ZNF184_uc010jqv.2_Frame_Shift_Ins_p.P641fs|ZNF184_uc003nji.2_Frame_Shift_Ins_p.P641fs	p.P641fs	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	2734_2735	-			641_642			C2H2-type 16.		B2R715|O60792|Q8TBA9	Frame_Shift_Ins	INS	ENST00000211936.6	37	c.1923_1924insC	CCDS4624.1																																																																																				0.426	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		8	95	NA	NA	NA	NA	NA	8	95	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																							uc003nno.3		NA																	0					0						c.(1177-1182)TTGTTTfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	p.L393fs	NM_001098479	NP_001091949	P30511	HLAF_HUMAN			7	1303_1304	+			Error:Variant_position_missing_in_P30511_after_alignment					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		8	246	NA	NA	NA	NA	NA	8	246	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18869149	18869149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:18869149delG	ENST00000432645.2	+	18	2435	c.2435delG	c.(2434-2436)agcfs	p.S812fs	HDAC9_ENST00000401921.1_Frame_Shift_Del_p.S771fs|HDAC9_ENST00000441542.2_Frame_Shift_Del_p.S815fs|HDAC9_ENST00000406451.4_Frame_Shift_Del_p.S812fs	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	812	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTAAATATAAGCAAGATATTG	0.383																																							uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2434-2436)AGCfs		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						93.0	89.0	90.0					7																	18869149		1843	4088	5931	SO:0001589	frameshift_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18869149delG	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2435delG	7.37:g.18869149delG	ENSP00000410337:p.Ser812fs					HDAC9_uc003sue.2_Frame_Shift_Del_p.S812fs|HDAC9_uc011jyd.1_Frame_Shift_Del_p.S812fs|HDAC9_uc003sui.2_Frame_Shift_Del_p.S815fs|HDAC9_uc003suj.2_Frame_Shift_Del_p.S771fs|HDAC9_uc003suk.2_Frame_Shift_Del_p.S60fs	p.S812fs	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			18	2476	+	all_lung(11;0.187)		812			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Frame_Shift_Del	DEL	ENST00000432645.2	37	c.2435delG	CCDS47555.1																																																																																				0.383	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			7	68	NA	NA	NA	NA	NA	7	68	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82544780	82544780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:82544780delT	ENST00000333891.9	-	7	12859	c.12522delA	c.(12520-12522)caafs	p.Q4174fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.Q4174fs|PCLO_ENST00000437081.1_Frame_Shift_Del_p.Q894fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTTGCTGCTTGTTTTTCAA	0.363																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(12520-12522)CAAfs		piccolo isoform 1							119.0	111.0	114.0					7																	82544780		1885	4116	6001	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544780delT	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.12522delA	7.37:g.82544780delT	ENSP00000334319:p.Gln4174fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.Q4174fs|PCLO_uc010lec.2_Frame_Shift_Del_p.Q1139fs	p.Q4174fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12811	-			4105						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.12522delA	CCDS47630.1																																																																																				0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	87	NA	NA	NA	NA	NA	14	87	---	---	---	---
OR2F2	135948	broad.mit.edu	37	7	143632642	143632642	+	Frame_Shift_Del	DEL	C	C	-	rs531071985	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:143632642delC	ENST00000408955.2	+	1	384	c.317delC	c.(316-318)gccfs	p.A106fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTCTCCCTGGCCTTGGGTGGG	0.547																																							uc011ktv.1		NA																	0				ovary(3)|skin(1)	4						c.(316-318)GCCfs		olfactory receptor, family 2, subfamily F,							124.0	115.0	118.0					7																	143632642		2203	4300	6503	SO:0001589	frameshift_variant	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632642delC		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.317delC	7.37:g.143632642delC	ENSP00000386222:p.Ala106fs						p.A106fs	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	317	+	Melanoma(164;0.0903)		106			Helical; Name=3; (Potential).		A4D2G0|Q6IFP8	Frame_Shift_Del	DEL	ENST00000408955.2	37	c.317delC	CCDS43666.1																																																																																				0.547	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			17	98	NA	NA	NA	NA	NA	17	98	---	---	---	---
GIMAP5	55340	broad.mit.edu	37	7	150440086	150440087	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:150440086_150440087insA	ENST00000358647.3	+	3	1226_1227	c.859_860insA	c.(859-861)gttfs	p.V287fs	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	287					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGATTTTTGTTTTTCTATTG	0.396																																							uc003whr.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(859-861)GTTfs		GTPase, IMAP family member 5																																				SO:0001589	frameshift_variant	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150440086_150440087insA	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	Exception_encountered	7.37:g.150440086_150440087insA	ENSP00000351473:p.Val287fs					GIMAP5_uc010lpu.2_Frame_Shift_Ins_p.V145fs	p.V287fs	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1211_1212	+			287			Helical; Anchor for type IV membrane protein; (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Frame_Shift_Ins	INS	ENST00000358647.3	37	c.859_860insA	CCDS5907.1																																																																																				0.396	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		7	58	NA	NA	NA	NA	NA	7	58	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72951251	72951251	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:72951251delC	ENST00000262209.4	-	19	2351	c.2144delG	c.(2143-2145)ggafs	p.G715fs	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	715					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGCTCTAAATCCATAAGCCAA	0.333																																							uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(2143-2145)GGAfs		ankyrin-like protein 1	Menthol(DB00825)						90.0	92.0	92.0					8																	72951251		2203	4300	6503	SO:0001589	frameshift_variant	8989					integral to plasma membrane		g.chr8:72951251delC	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2144delG	8.37:g.72951251delC	ENSP00000262209:p.Gly715fs					uc011lff.1_Intron|uc003xyy.2_Intron	p.G715fs	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		19	2319	-			715			Cytoplasmic (Potential).		A6NIN6	Frame_Shift_Del	DEL	ENST00000262209.4	37	c.2144delG	CCDS34908.1																																																																																				0.333	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		12	118	NA	NA	NA	NA	NA	12	118	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125022845	125022846	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:125022845_125022846insT	ENST00000522917.1	+	14	1918_1919	c.1712_1713insT	c.(1711-1716)tatttgfs	p.L572fs	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Ins_p.L572fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	572						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AATTACAACTATTTGCCATTTG	0.455																																							uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(1711-1713)TATfs		fer-1-like 6																																				SO:0001589	frameshift_variant	654463					integral to membrane		g.chr8:125022845_125022846insT	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1715dupT	8.37:g.125022848_125022848dupT	ENSP00000428280:p.Leu572fs					uc003yqx.1_Intron	p.Y571fs	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		14	1918_1919	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		571			Cytoplasmic (Potential).			Frame_Shift_Ins	INS	ENST00000522917.1	37	c.1712_1713insT	CCDS43767.1																																																																																				0.455	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		39	126	NA	NA	NA	NA	NA	39	126	---	---	---	---
ZNF572	137209	broad.mit.edu	37	8	125989900	125989900	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:125989900delG	ENST00000319286.5	+	3	1544	c.1390delG	c.(1390-1392)gggfs	p.G464fs		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GACCCACATAGGGGAAAAACC	0.448										HNSCC(60;0.17)																													uc003yrr.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1390-1392)GGGfs		zinc finger protein 572							136.0	140.0	139.0					8																	125989900		2203	4300	6503	SO:0001589	frameshift_variant	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989900delG	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1390delG	8.37:g.125989900delG	ENSP00000319305:p.Gly464fs	HNSCC(60;0.17)					p.G464fs	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1545	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		464					A1L4F1|Q8N1Q0	Frame_Shift_Del	DEL	ENST00000319286.5	37	c.1390delG	CCDS6354.1																																																																																				0.448	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		7	215	NA	NA	NA	NA	NA	7	215	---	---	---	---
VDAC1	7416	broad.mit.edu	37	X	80185567	80185567	+	IGR	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:80185567delG								RNU6-493P (29204 upstream) : RNU6-995P (6365 downstream)																							GACAGAGTTTGGCGGCTCCAT	0.478																																							uc004eec.1		NA																	0					NA						c.(466-468)GGCfs		SubName: Full=cDNA FLJ16670 fis, clone THYMU3001133, highly similar to Voltage-dependent anion-selective channel protein 1; SubName: Full=Voltage-dependent anion channel 1, isoform CRA_a;																																				SO:0001628	intergenic_variant	0							g.chrX:80185567delG																													X.37:g.80185567delG							p.G156fs							1	640	+									Frame_Shift_Del	DEL		37	c.466delG																																																																																				0	0.478									9	25	NA	NA	NA	NA	NA	9	25	---	---	---	---
