#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_Annotation_Transcript	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
WDR7	23335	broad.mit.edu	37	18	54603067	54603067	+	Silent	SNP	T	T	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr18:54603067T>A	ENST00000254442.3	+	23	3973	c.3762T>A	c.(3760-3762)tcT>tcA	p.S1254S	WDR7_ENST00000357574.3_Silent_p.S1221S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1254					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGGCCCGCTCTGCGAGGCATG	0.527																																						ENST00000254442.3											0			NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3760-3762)tcT>tcA	WD repeat domain 7						84.0	87.0	86.0					18																	54603067		2203	4300	6503	SO:0001819	synonymous_variant	23335						g.chr18:54603067T>A	AB011113	AB011113	CCDS11962.1, CCDS11963.1	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			2013-01-09			ENSG00000091157	ENSG00000091157	ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	"""WD repeat domain containing"""	13490	13490	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613473	613473						10828621	10828621	Standard	Standard	XM_005266674	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	uc002lgk.1	Q9Y4E6	Q9Y4E6	OTTHUMG00000132721	OTTHUMG00000132721	ENST00000254442.3:c.3762T>A	18.37:g.54603067T>A			WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S1221S	p.S1254S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	23	3973	+			1254		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3762T>A	CCDS11962.1																																																																																									0.527	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		144.178970	-22	-22	103	103			45	144.243044	144.243044	40	0.529412	0	0	0	1	0	45	40	0.529412
GAB3	139716	broad.mit.edu	37	X	153908520	153908520	+	Silent	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chrX:153908520C>T	ENST00000369575.3	-	9	1564	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.E512E	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	511					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGTTCGGTGCTCCTCCTAGG	0.517																																						ENST00000369575.3											0			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1531-1533)gaG>gaA	GRB2-associated binding protein 3						123.0	113.0	116.0					X																	153908520		2203	4300	6503	SO:0001819	synonymous_variant	139716						g.chrX:153908520C>T	AY057989	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			2013-01-10			ENSG00000160219	ENSG00000160219	ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	17515	17515	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482	300482						11739737	11739737	Standard	Standard	XM_005274648	XM_005274648		Approved		uc004fmk.1	uc004fmk.1	Q8WWW8	Q8WWW8	OTTHUMG00000024245	OTTHUMG00000024245	ENST00000369575.3:c.1533G>A	X.37:g.153908520C>T			GAB3_ENST00000424127.2_Silent_p.E512E|GAB3_ENST00000496390.1_5'UTR	p.E511E	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			9	1564	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		511		A6NHF8|E9PB44	Silent	SNP	ENST00000369575.3	37	c.1533G>A	CCDS14760.1																																																																																									0.517	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2		211.806147	-91	-91	48	48	NM_001081573		60	220.521757	220.521757	4	0.937500	0	0	0	1	0	60	4	0.9375
SELE	6401	broad.mit.edu	37	1	169698468	169698468	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr1:169698468A>T	ENST00000333360.7	-	7	1088	c.949T>A	c.(949-951)Tgc>Agc	p.C317S	SELE_ENST00000367775.1_Missense_Mutation_p.C255S|SELE_ENST00000367777.1_Missense_Mutation_p.C317S|SELE_ENST00000367782.4_Missense_Mutation_p.C317S|SELE_ENST00000367781.4_Missense_Mutation_p.C317S|SELE_ENST00000367780.4_Missense_Mutation_p.C255S|SELE_ENST00000367779.4_Missense_Mutation_p.C317S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.C317S|SELE_ENST00000367774.1_Missense_Mutation_p.C317S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	317	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GAATGGCTGCACCTCACAGAG	0.522																																						ENST00000333360.7											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(949-951)Tgc>Agc	selectin E						61.0	54.0	57.0					1																	169698468		2203	4300	6503	SO:0001583	missense	6401			actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698468A>T	M30640	M30640	CCDS1283.1	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908	ENSG00000007908	ENSG00000007908		"""CD molecules"""	"""CD molecules"""	10718	10718	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			131210	131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	1375831	Standard	Standard	NM_000450	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	uc001ggm.4	P16581	P16581	OTTHUMG00000034851	OTTHUMG00000034851	ENST00000333360.7:c.949T>A	1.37:g.169698468A>T	ENSP00000331736:p.Cys317Ser		SELE_ENST00000367779.4_Missense_Mutation_p.C317S|SELE_ENST00000367780.4_Missense_Mutation_p.C255S|SELE_ENST00000367781.4_Missense_Mutation_p.C317S|SELE_ENST00000367782.4_Missense_Mutation_p.C317S|SELE_ENST00000367775.1_Missense_Mutation_p.C255S|SELE_ENST00000367774.1_Missense_Mutation_p.C317S|SELE_ENST00000367776.1_Missense_Mutation_p.C317S|SELE_ENST00000367777.1_Missense_Mutation_p.C317S|C1orf112_ENST00000498289.1_Intron	p.C317S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			7	1088	-	all_hematologic(923;0.208)		317	Sushi 3.	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.949T>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960662	0.53400	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.73258	1.89;1.89;1.89;-0.73;1.89;1.89;1.89;1.89;-0.73	5.13	5.13	0.70059	5.13	5.13	0.70059	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.45126	D	0.000386	T	0.81569	0.4850	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.85125	0.0971	10	0.72032	D	0.01	-7.1846	12.9225	0.58241	1.0:0.0:0.0:0.0	.	317	P16581	LYAM2_HUMAN	S	317;317;255;317;317;317;255;317;317	ENSP00000356755:C317S;ENSP00000356756:C317S;ENSP00000356754:C255S;ENSP00000356753:C317S;ENSP00000331736:C317S;ENSP00000356751:C317S;ENSP00000356749:C255S;ENSP00000356750:C317S;ENSP00000356748:C317S	ENSP00000331736:C317S	C	-	1	0	0	SELE	167965092	167965092	1.000000	0.71417	0.113000	0.21522	0.089000	0.18198	6.254000	0.72460	1.928000	0.55862	0.528000	0.53228	TGC		0.522	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1		25.867028	-2	-2	31	31	NM_000450		9	26.196903	26.196903	15	0.375000	0	0	0	1	0	9	15	0.375
ABCA12	26154	broad.mit.edu	37	2	215865502	215865502	+	Missense_Mutation	SNP	G	G	C			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:215865502G>C	ENST00000272895.7	-	22	3325	c.3106C>G	c.(3106-3108)Caa>Gaa	p.Q1036E	ABCA12_ENST00000389661.4_Missense_Mutation_p.Q718E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1036					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCCAGTTTGCAATTCAATG	0.428																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7											0			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3106-3108)Caa>Gaa	ATP-binding cassette, sub-family A (ABC1), member 12						124.0	130.0	128.0					2																	215865502		2203	4300	6503	SO:0001583	missense	26154			cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215865502G>C	AF418105	AF418105	CCDS33372.1, CCDS33373.1	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			2012-03-14			ENSG00000144452	ENSG00000144452	ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	"""ATP binding cassette transporters / subfamily A"""	14637	14637	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607800	607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	11435397, 12915478, 8845852, 10094194	Standard	Standard	NM_015657	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	uc002vew.3	Q86UK0	Q86UK0	OTTHUMG00000154801	OTTHUMG00000154801	ENST00000272895.7:c.3106C>G	2.37:g.215865502G>C	ENSP00000272895:p.Gln1036Glu		ABCA12_ENST00000389661.4_Missense_Mutation_p.Q718E	p.Q1036E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	22	3325	-		Renal(323;0.127)	1036		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3106C>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972598	0.53614	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95518	-3.73;-3.73	5.73	4.85	0.62838	5.73	4.85	0.62838	.	0.087482	0.49916	D	0.000121	D	0.95762	0.8621	M	0.85197	2.74	0.80722	D	1	P;B	0.40431	0.717;0.237	B;B	0.40534	0.332;0.272	D	0.95485	0.8564	10	0.59425	D	0.04	.	16.2693	0.82607	0.0:0.0:0.8666:0.1333	.	1036;718	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	E	1036;718	ENSP00000272895:Q1036E;ENSP00000374312:Q718E	ENSP00000272895:Q1036E	Q	-	1	0	0	ABCA12	215573747	215573747	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.530000	0.73816	1.393000	0.46605	0.555000	0.69702	CAA		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		166.742415	15	15	136	136	NM_173076		53	167.053934	167.053934	66	0.445378	0	0	0	1	0	53	66	0.445378
GNA11	2767	broad.mit.edu	37	19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(496-498)cGc>cAc	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						92.0	78.0	82.0					19																	3114962		2203	4299	6502	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3114962G>A	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.497G>A	19.37:g.3114962G>A	ENSP00000078429:p.Arg166His			p.R166H	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	739	+		Hepatocellular(1079;0.137)	166		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.497G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757625	0.69648	.	.	ENSG00000088256	ENST00000078429	D	0.91996	-2.95	3.62	3.62	0.41486	3.62	3.62	0.41486	G protein alpha subunit, helical insertion (2);	0.000000	0.64402	U	0.000002	D	0.97201	0.9085	H	0.96662	3.86	0.54753	D	0.999989	D	0.89917	1.0	D	0.73708	0.981	D	0.98413	1.0573	10	0.87932	D	0	.	14.2446	0.65981	0.0:0.0:1.0:0.0	.	166	P29992	GNA11_HUMAN	H	166	ENSP00000078429:R166H	ENSP00000078429:R166H	R	+	2	0	0	GNA11	3065962	3065962	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	9.626000	0.98410	1.752000	0.51891	0.556000	0.70494	CGC		0.677	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		-6.224328	-14	-14	95	95	NM_002067		3	6.661241	6.661241	57	0.050000	0	0	0	1	0	3	57	0.05
MGAT4B	11282	broad.mit.edu	37	5	179226505	179226505	+	Splice_Site	SNP	C	C	T	rs112845536		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr5:179226505C>T	ENST00000292591.7	-	9	1392		c.e9+1		MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000521305.1_5'Flank|MGAT4B_ENST00000337755.5_Splice_Site	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTGCTCACCGCATCCTTC	0.577																																					GBM(13;414 434 4098 22176 23230)	ENST00000337755.5											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.e8+1	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						66.0	66.0	66.0					5																	179226505		2203	4300	6503	SO:0001630	splice_region_variant	11282			N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179226505C>T	AB000624	AB000624	CCDS4448.1, CCDS4449.1	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	7048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604561	604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""		"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	10372966	Standard	Standard	NM_014275	NM_014275		Approved	GnT-Ivb	uc003mks.3	uc003mks.3	Q9UQ53	Q9UQ53	OTTHUMG00000130912	OTTHUMG00000130912	ENST00000292591.7:c.1041+1G>A	5.37:g.179226505C>T			MGAT4B_ENST00000292591.7_Splice_Site		NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1973	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)			A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Splice_Site	SNP	ENST00000292591.7	37		CCDS4448.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.817544	0.50633	.	.	ENSG00000161013	ENST00000518778;ENST00000337755;ENST00000292591;ENST00000520969;ENST00000520875;ENST00000518867	.	.	.	3.88	3.88	0.44766	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0447	0.80711	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MGAT4B	179159111	179159111	1.000000	0.71417	0.986000	0.45419	0.573000	0.36030	7.590000	0.82653	1.993000	0.58246	0.561000	0.74099	.		0.577	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3		42.412661	15	15	62	62	NM_014275	Intron	15	42.703289	42.703289	22	0.405405	0	0	0	1	0	15	22	0.405405
LPHN3	23284	broad.mit.edu	37	4	62599230	62599230	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr4:62599230G>A	ENST00000514591.1	+	7	1482	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	LPHN3_ENST00000506746.1_Missense_Mutation_p.V453M|LPHN3_ENST00000508946.1_Missense_Mutation_p.V385M|LPHN3_ENST00000514157.1_Missense_Mutation_p.V385M|LPHN3_ENST00000507164.1_Missense_Mutation_p.V453M|LPHN3_ENST00000507625.1_Missense_Mutation_p.V453M|LPHN3_ENST00000508693.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506700.1_Missense_Mutation_p.V385M|LPHN3_ENST00000512091.2_Missense_Mutation_p.V385M|LPHN3_ENST00000504896.1_Missense_Mutation_p.V385M|LPHN3_ENST00000511324.1_Missense_Mutation_p.V453M|LPHN3_ENST00000514996.1_Missense_Mutation_p.V385M|LPHN3_ENST00000506720.1_Missense_Mutation_p.V453M|LPHN3_ENST00000545650.1_Missense_Mutation_p.V385M|LPHN3_ENST00000509896.1_Missense_Mutation_p.V453M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	385	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTATCACGTCGTGAAATATTC	0.393																																						ENST00000512091.2											0			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1153-1155)Gtg>Atg	latrophilin 3						52.0	47.0	48.0					4																	62599230		1838	4095	5933	SO:0001583	missense	23284			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599230G>A	AB018311	AB018311	CCDS54768.1	CCDS54768.1	4q13.1	2014-08-08			2014-08-08				ENSG00000150471		ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	"""-"", ""GPCR / Class B : Orphans"""	20974	20974	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10994649	10994649	Standard	Standard	NM_015236	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	uc010ihh.3	Q9HAR2	Q9HAR2			ENST00000514591.1:c.1153G>A	4.37:g.62599230G>A	ENSP00000422533:p.Val385Met		LPHN3_ENST00000514591.1_Missense_Mutation_p.V385M|LPHN3_ENST00000508946.1_Missense_Mutation_p.V385M|LPHN3_ENST00000545650.1_Missense_Mutation_p.V385M|LPHN3_ENST00000504896.1_Missense_Mutation_p.V385M|LPHN3_ENST00000507625.1_Missense_Mutation_p.V453M|LPHN3_ENST00000509896.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506746.1_Missense_Mutation_p.V453M|LPHN3_ENST00000514157.1_Missense_Mutation_p.V385M|LPHN3_ENST00000506720.1_Missense_Mutation_p.V453M|LPHN3_ENST00000511324.1_Missense_Mutation_p.V453M|LPHN3_ENST00000507164.1_Missense_Mutation_p.V453M|LPHN3_ENST00000508693.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506700.1_Missense_Mutation_p.V385M|LPHN3_ENST00000514996.1_Missense_Mutation_p.V385M	p.V385M			Q9HAR2	LPHN3_HUMAN			7	1900	+				Olfactomedin-like.	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1153G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904395	0.52333	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93592	0.7954	L	0.55834	1.745	0.48040	D	0.999579	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.991	D	0.93887	0.7176	10	0.72032	D	0.01	.	13.6671	0.62403	0.0:0.1549:0.8451:0.0	.	385;453;385	E9PE04;E7EN28;Q9HAR2-2	.;.;.	M	385;385;453;453;385;385;385;385;385;453;453;453;385;385;385;453;453;385	ENSP00000423388:V385M;ENSP00000422533:V385M;ENSP00000423787:V453M;ENSP00000425033:V453M;ENSP00000424120:V385M;ENSP00000439831:V385M;ENSP00000421476:V453M;ENSP00000424030:V453M;ENSP00000421372:V453M;ENSP00000425201:V385M;ENSP00000423434:V385M;ENSP00000421627:V385M;ENSP00000420931:V453M;ENSP00000425884:V453M;ENSP00000424258:V385M	ENSP00000280009:V385M	V	+	1	0	0	LPHN3	62281825	62281825	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.513000	0.81739	2.471000	0.83476	0.557000	0.71058	GTG		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		25.162415	-8	-8	19	19			9	26.383624	26.383624	22	0.290323	0	0	0	1	0	9	22	0.290323
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95.0	92.0	93.0					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		69.346191	-11	-11	44	44			22	69.418623	69.418623	26	0.458333	0	0	0	1	0	22	26	0.458333
CSNK1A1L	122011	broad.mit.edu	37	13	37678549	37678549	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr13:37678549C>T	ENST00000379800.3	-	1	1254	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GAAAAGAATGCGGAATAGCTG	0.488																																						ENST00000379800.3											0			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(844-846)cGc>cAc	casein kinase 1, alpha 1-like						167.0	153.0	158.0					13																	37678549		2203	4300	6503	SO:0001583	missense	122011			Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678549C>T	BC028723	BC028723	CCDS9363.1	CCDS9363.1	13q13.2	2008-02-05			2008-02-05			ENSG00000180138	ENSG00000180138	ENSG00000180138	ENSG00000180138				20289	20289	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_145203	NM_145203		Approved	MGC33182	uc001uwm.1	uc001uwm.1	Q8N752	Q8N752	OTTHUMG00000016748	OTTHUMG00000016748	ENST00000379800.3:c.845G>A	13.37:g.37678549C>T	ENSP00000369126:p.Arg282His			p.R282H	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	1254	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	282	Protein kinase.	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.845G>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769340	0.49680	.	.	ENSG00000180138	ENST00000379800	T	0.10288	2.89	1.74	1.74	0.24563	1.74	1.74	0.24563	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	M	0.87682	2.9	0.50813	D	0.999897	P	0.35468	0.503	B	0.24974	0.057	T	0.08006	-1.0743	10	0.62326	D	0.03	.	9.4321	0.38617	0.0:1.0:0.0:0.0	.	282	Q8N752	KC1AL_HUMAN	H	282	ENSP00000369126:R282H	ENSP00000369126:R282H	R	-	2	0	0	CSNK1A1L	36576549	36576549	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.054000	0.41335	0.871000	0.35750	0.561000	0.74099	CGC		0.488	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1		-6.229331	-2	-2	136	136	NM_145203		6	12.650106	12.650106	89	0.063158	0	0	0	1	0	6	89	0.063158
TRAF3IP1	26146	broad.mit.edu	37	2	239237343	239237343	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:239237343C>T	ENST00000373327.4	+	4	593	c.371C>T	c.(370-372)gCg>gTg	p.A124V	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.A124V|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.A124V	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	124	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGTGACGATGCGGTGCGGAGG	0.468																																						ENST00000373327.4											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(370-372)gCg>gTg	TNF receptor-associated factor 3 interacting protein 1						81.0	82.0	82.0					2																	239237343		2203	4300	6503	SO:0001583	missense	26146				cytoplasm|cytoskeleton	protein binding	g.chr2:239237343C>T	AF230877	AF230877	CCDS33415.1, CCDS46557.1	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			2014-02-21			ENSG00000204104	ENSG00000204104	ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	"""Intraflagellar transport homologs"""	17861	17861	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	"""microtubule interacting protein that associates with TRAF3"""	607380	607380						10791955, 12935900	10791955, 12935900	Standard	Standard	NM_015650	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	uc002vye.3	Q8TDR0	Q8TDR0	OTTHUMG00000152872	OTTHUMG00000152872	ENST00000373327.4:c.371C>T	2.37:g.239237343C>T	ENSP00000362424:p.Ala124Val		TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.A124V|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.A124V	p.A124V	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	4	593	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	124	Abolishes microtubules-binding when missing.	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.371C>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752655	0.69533	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.19394	2.15;2.15;2.15	4.65	4.65	0.58169	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57694	-0.7767	10	0.66056	D	0.02	-36.9431	17.9082	0.88926	0.0:1.0:0.0:0.0	.	124;124	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	V	124	ENSP00000375851:A124V;ENSP00000362424:A124V;ENSP00000375852:A124V	ENSP00000362424:A124V	A	+	2	0	0	TRAF3IP1	238902082	238902082	1.000000	0.71417	0.120000	0.21714	0.092000	0.18411	5.967000	0.70403	2.301000	0.77427	0.655000	0.94253	GCG		0.468	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1		-2.614611	8	8	57	57	NM_015650		3	6.688463	6.688463	44	0.063830	0	0	0	1	0	3	44	0.06383
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		118.938182	9	9	121	121	NM_002072		38	119.191543	119.191543	48	0.441860	0	0	0	1	0	38	48	0.44186
DYSF	8291	broad.mit.edu	37	2	71797031	71797031	+	Silent	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:71797031G>A	ENST00000258104.3	+	27	3169	c.2892G>A	c.(2890-2892)caG>caA	p.Q964Q	DYSF_ENST00000413539.2_Silent_p.Q995Q|DYSF_ENST00000409651.1_Silent_p.Q996Q|DYSF_ENST00000409744.1_Silent_p.Q951Q|DYSF_ENST00000409762.1_Silent_p.Q981Q|DYSF_ENST00000410020.3_Silent_p.Q982Q|DYSF_ENST00000409582.3_Silent_p.Q981Q|DYSF_ENST00000429174.2_Silent_p.Q964Q|DYSF_ENST00000409366.1_Silent_p.Q965Q|DYSF_ENST00000394120.2_Silent_p.Q965Q|DYSF_ENST00000410041.1_Silent_p.Q982Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	964					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGGAGGCCAGTGGATCTACA	0.587																																						ENST00000258104.3											0			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2890-2892)caG>caA	dysferlin						55.0	57.0	56.0					2																	71797031		2203	4300	6503	SO:0001819	synonymous_variant	8291				cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797031G>A	AF075575	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	ENSG00000135636	ENSG00000135636				3097	3097	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	"""fer-1-like family member 1"""	603009	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	8320700	Standard	Standard	NM_003494	NM_003494		Approved	FER1L1	uc010fen.3	uc010fen.3	O75923	O75923	OTTHUMG00000129757	OTTHUMG00000129757	ENST00000258104.3:c.2892G>A	2.37:g.71797031G>A			DYSF_ENST00000409366.1_Silent_p.Q965Q|DYSF_ENST00000409762.1_Silent_p.Q981Q|DYSF_ENST00000394120.2_Silent_p.Q965Q|DYSF_ENST00000409651.1_Silent_p.Q996Q|DYSF_ENST00000409744.1_Silent_p.Q951Q|DYSF_ENST00000409582.3_Silent_p.Q981Q|DYSF_ENST00000413539.2_Silent_p.Q995Q|DYSF_ENST00000410041.1_Silent_p.Q982Q|DYSF_ENST00000410020.3_Silent_p.Q982Q|DYSF_ENST00000429174.2_Silent_p.Q964Q	p.Q964Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			27	3169	+			964		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.2892G>A	CCDS1918.1																																																																																									0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		-4.721883	-8	-8	75	75	NM_003494		5	8.718728	8.718728	65	0.071429	0	0	0	1	0	5	65	0.071429
ARHGEF17	9828	broad.mit.edu	37	11	73073583	73073583	+	Silent	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr11:73073583G>A	ENST00000263674.3	+	14	5150	c.4800G>A	c.(4798-4800)gcG>gcA	p.A1600A		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1600					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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGACGCTCGCGGAGCCGGGGC	0.731																																						ENST00000263674.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4798-4800)gcG>gcA	Rho guanine nucleotide exchange factor (GEF) 17						10.0	16.0	14.0					11																	73073583		2161	4247	6408	SO:0001819	synonymous_variant	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.chr11:73073583G>A	AF378754	AF378754	CCDS8221.1	CCDS8221.1	11q13.3	2011-11-16			2011-11-16			ENSG00000110237	ENSG00000110237	ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	"""Rho guanine nucleotide exchange factors"""	21726	21726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""								11559528, 12071859	11559528, 12071859	Standard	Standard	NM_014786	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	uc001otu.3	Q96PE2	Q96PE2	OTTHUMG00000167971	OTTHUMG00000167971	ENST00000263674.3:c.4800G>A	11.37:g.73073583G>A				p.A1600A	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			14	5150	+			1600		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.4800G>A	CCDS8221.1																																																																																									0.731	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		22.690451	-6	-6	24	24	NM_014786		8	23.54748	23.547480	18	0.307692	0	0	0	1	0	8	18	0.307692
SNHG14	104472715	broad.mit.edu	37	15	25313008	25313008	+	RNA	SNP	G	G	A	rs199687241		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr15:25313008G>A	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-8_ENST00000384365.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNORD116-7_ENST00000384404.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TCATACCGTCGTTCTCATCAG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21474	0.0		0.0	False		,,,				2504	0.0					ENST00000549804.2											0												G		2,1750		0,2,874	180.0	159.0	165.0			-5.8	0.0	15		165	0,3982		0,0,1991	no	intergenic				0,2,2865	AA,AG,GG		0.0,0.1142,0.0349			25313008	2,5732	876	1991	2867			0						g.chr15:25313008G>A					15q11.2	2014-01-17	2011-08-22	2011-08-22	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	"""Long non-coding RNAs"""	37462	37462	non-coding RNA	RNA, long non-coding	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""	"""non-protein coding RNA 214"""			"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1	"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	23771028	Standard	Standard				Approved	NCRNA00214, UBE3A-AS					OTTHUMG00000056661	OTTHUMG00000056661		15.37:g.25313008G>A			SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA								0	538	+						RNA	SNP	ENST00000549804.2	37																																																																																											0.507	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2		257.548048	3	3	265	265			81	257.559785	257.559785	78	0.509434	0	0	0	1	0	81	78	0.509434
LRFN2	57497	broad.mit.edu	37	6	40400440	40400440	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr6:40400440C>T	ENST00000338305.6	-	2	955	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	138						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTGCGATGCCGCCCAGCTG	0.597																																						ENST00000338305.6											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(412-414)gGc>gAc	leucine rich repeat and fibronectin type III domain containing 2						64.0	59.0	61.0					6																	40400440		2203	4300	6503	SO:0001583	missense	57497				cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400440C>T	AB033072	AB033072	CCDS34443.1	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	21226	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	612808	"""KIAA1246"""	KIAA1246, SALM1	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	16495444, 16828986	Standard	Standard	NM_020737	NM_020737		Approved	FIGLER2	uc003oph.1	uc003oph.1	Q9ULH4	Q9ULH4	OTTHUMG00000014662	OTTHUMG00000014662	ENST00000338305.6:c.413G>A	6.37:g.40400440C>T	ENSP00000345985:p.Gly138Asp			p.G138D	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	955	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		138		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.413G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	9.341	1.062997	0.19987	.	.	ENSG00000156564	ENST00000338305	T	0.02737	4.18	5.76	2.45	0.29901	5.76	2.45	0.29901	.	0.365256	0.34603	N	0.003827	T	0.00608	0.0020	N	0.13299	0.325	0.32623	N	0.523012	B	0.02656	0.0	B	0.04013	0.001	T	0.45071	-0.9286	10	0.11485	T	0.65	.	11.0243	0.47736	0.0:0.6776:0.245:0.0773	.	138	Q9ULH4	LRFN2_HUMAN	D	138	ENSP00000345985:G138D	ENSP00000345985:G138D	G	-	2	0	0	LRFN2	40508418	40508418	0.396000	0.25262	0.995000	0.50966	0.832000	0.47134	0.911000	0.28584	0.736000	0.32559	0.655000	0.94253	GGC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1		-8.517509	-21	-21	28	28	XM_166372		3	6.315429	6.315429	64	0.044776	0	0	0	1	0	3	64	0.044776
RSPH14	27156	broad.mit.edu	37	22	23406237	23406237	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr22:23406237C>T	ENST00000216036.4	-	5	692	c.496G>A	c.(496-498)Gag>Aag	p.E166K		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		166	Poly-Glu.									breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCCTGGAACTCCTCCTCCTCC	0.577																																						ENST00000216036.4											0			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(496-498)Gag>Aag	rhabdoid tumor deletion region gene 1						102.0	90.0	94.0					22																	23406237		2203	4300	6503	SO:0001583	missense	27156					binding	g.chr22:23406237C>T																																																	ENST00000216036.4:c.496G>A	22.37:g.23406237C>T	ENSP00000216036:p.Glu166Lys			p.E166K	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	692	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		166	Poly-Glu.		Missense_Mutation	SNP	ENST00000216036.4	37	c.496G>A	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	4.868	0.161359	0.09287	.	.	ENSG00000100218	ENST00000216036	T	0.51325	0.71	.	.	.	.	.	.	Armadillo-like helical (1);Armadillo-type fold (1);	3.549510	0.00508	N	0.000176	T	0.38852	0.1056	L	0.43923	1.385	0.22562	N	0.998982	P	0.46395	0.877	B	0.43360	0.417	T	0.30909	-0.9962	8	0.07813	T	0.8	0.7507	.	.	.	.	166	Q9UHP6	RTDR1_HUMAN	K	166	ENSP00000216036:E166K	ENSP00000216036:E166K	E	-	1	0	0	RTDR1	21736237	21736237	0.011000	0.17503	0.077000	0.20336	0.028000	0.11728	-0.542000	0.06091	0.064000	0.16427	0.064000	0.15345	GAG		0.577	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1		46.690902	-7	-7	39	39			16	47.040996	47.040996	24	0.400000	0	0	0	1	0	16	24	0.4
NBPF10	100132406	broad.mit.edu	37	1	145293547	145293547	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr1:145293547G>T	ENST00000369339.3	+	3	395	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S	NBPF10_ENST00000342960.5_Missense_Mutation_p.A48S|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	319						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)		AACTCAACTGGCCGGCTTCCT	0.438																																						ENST00000342960.5											0			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(142-144)Gcc>Tcc	neuroblastoma breakpoint family, member 10																																			SO:0001583	missense	100132406						g.chr1:145293547G>T	BC021111	BC021111			1q21.1	2013-01-17			2013-01-17			ENSG00000163386	ENSG00000271425	ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	"""neuroblastoma breakpoint family"""	31992	31992	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614000	614000						16079250	16079250	Standard	Standard	NM_001039703	NM_001039703		Approved	AG1			Q6P3W6	Q6P3W6	OTTHUMG00000013757	OTTHUMG00000013757	ENST00000369339.3:c.142G>T	1.37:g.145293547G>T	ENSP00000358345:p.Ala48Ser		NBPF10_ENST00000369339.3_Missense_Mutation_p.A48S|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.A48S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	177	+	all_hematologic(923;0.032)		48		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.142G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.144|9.144	1.014467|1.014467	0.19277|0.19277	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.03801|.	3.8|.	1.0|1.0	-2.0|-2.0	0.07433|0.07433	1.0|1.0	-2.0|-2.0	0.07433|0.07433	.|.	.|.	.|.	.|.	.|.	T|T	0.23649|0.23649	0.0572|0.0572	M|M	0.71296|0.71296	2.17|2.17	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40887|0.40887	-0.9539|-0.9539	7|6	0.56958|0.87932	D|D	0.05|0	.|.	1.9372|1.9372	0.03339|0.03339	0.2412:0.0:0.4556:0.3032|0.2412:0.0:0.4556:0.3032	.|.	.|.	.|.	.|.	S|V	48|7	ENSP00000345684:A48S|.	ENSP00000345684:A48S|ENSP00000414194:G7V	A|G	+|+	1|2	0|0	0|0	NBPF10|NBPF10	144004904|144004904	144004904|144004904	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.898000|-0.898000	0.04105|0.04105	-0.699000|-0.699000	0.05077|0.05077	0.121000|0.121000	0.15741|0.15741	GCC|GGC		0.438	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3		69.346321	78	78	746	746	NM_001039703		54	129.235304	129.235304	380	0.124424	1	0	8.87156e-34	1	8.87156e-34	54	380	0.124424
OR6C75	390323	broad.mit.edu	37	12	55759765	55759765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr12:55759765A>T	ENST00000343399.3	+	1	871	c.871A>T	c.(871-873)Aga>Tga	p.R291*		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATACACACTGAGAAATAAGCA	0.393																																						ENST00000343399.3											0			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(871-873)Aga>Tga	olfactory receptor, family 6, subfamily C, member 75						69.0	64.0	66.0					12																	55759765		2203	4300	6503	SO:0001587	stop_gained	390323			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759765A>T			CCDS31820.1	CCDS31820.1	12q13.2	2013-09-23			2013-09-23			ENSG00000187857	ENSG00000187857	ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	31304	31304	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001005497	NM_001005497		Approved		uc010spk.2	uc010spk.2	A6NL08	A6NL08	OTTHUMG00000169886	OTTHUMG00000169886	ENST00000343399.3:c.871A>T	12.37:g.55759765A>T	ENSP00000368987:p.Arg291*			p.R291*	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	871	+			291			Nonsense_Mutation	SNP	ENST00000343399.3	37	c.871A>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	a	13.23	2.174605	0.38413	.	.	ENSG00000187857	ENST00000343399	.	.	.	5.22	1.32	0.21799	5.22	1.32	0.21799	.	0.000000	0.47455	U	0.000236	.	.	.	.	.	.	0.48571	D	0.999672	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7292	0.62776	0.4857:0.5143:0.0:0.0	.	.	.	.	X	291	.	ENSP00000368987:R291X	R	+	1	2	2	OR6C75	54046032	54046032	0.996000	0.38824	0.059000	0.19551	0.298000	0.27526	2.792000	0.47837	0.069000	0.16605	0.515000	0.50301	AGA		0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		-8.732681	11	11	78	78			3	6.394842	6.394842	65	0.044118	0	0	0	1	0	3	65	0.044118
CACNA1D	776	broad.mit.edu	37	3	53796064	53796064	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr3:53796064A>T	ENST00000350061.5	+	30	4337	c.3826A>T	c.(3826-3828)Atc>Ttc	p.I1276F	CACNA1D_ENST00000288139.4_Missense_Mutation_p.I1296F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1276F|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I183F	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1276					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGACTCCCTCATCGTAATCGG	0.552																																						ENST00000288139.4											0			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3886-3888)Atc>Ttc	calcium channel, voltage-dependent, L type, alpha 1D subunit						174.0	138.0	150.0					3																	53796064		2203	4300	6503	SO:0001583	missense	776			axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53796064A>T	AB209171	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			2012-03-07			ENSG00000157388	ENSG00000157388	ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	1391	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114206	114206		CCHL1A2, CACNL1A2		CCHL1A2, CACNL1A2		1664412	1664412	Standard	Standard	NM_000720	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	uc003dgu.5	Q01668	Q01668	OTTHUMG00000158278	OTTHUMG00000158278	ENST00000350061.5:c.3826A>T	3.37:g.53796064A>T	ENSP00000288133:p.Ile1276Phe		CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1276F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1276F|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I183F	p.I1296F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	31	4004	+					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3886A>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407489	0.83230	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000540742	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	5.59	5.59	0.84812	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.94771	3.58	0.80722	D	1	D;P;D;D	0.64830	0.994;0.818;0.99;0.974	D;P;D;D	0.69654	0.965;0.776;0.936;0.913	D	0.99253	1.0888	10	0.87932	D	0	.	11.1717	0.48575	0.9283:0.0:0.0717:0.0	.	1276;183;1276;1296	B0FYA3;F5H313;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	F	1276;1296;1276;183	ENSP00000288133:I1276F;ENSP00000288139:I1296F;ENSP00000409174:I1276F;ENSP00000438229:I183F	ENSP00000288139:I1296F	I	+	1	0	0	CACNA1D	53771104	53771104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.859000	0.69539	2.254000	0.74563	0.459000	0.35465	ATC		0.552	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		103.522898	-5	-5	113	113	NM_000720		37	108.47653	108.476530	90	0.291339	0	0	0	1	0	37	90	0.291339
ZNF304	57343	broad.mit.edu	37	19	57868113	57868113	+	Silent	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:57868113C>T	ENST00000282286.5	+	3	1049	c.876C>T	c.(874-876)caC>caT	p.H292H	ZNF304_ENST00000443917.2_Silent_p.H339H|ZNF304_ENST00000598744.1_Silent_p.H250H|ZNF304_ENST00000391705.3_Silent_p.H292H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		TTCACTTGCACCACCTAAAAA	0.418																																						ENST00000391705.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(874-876)caC>caT	zinc finger protein 304						95.0	93.0	94.0					19																	57868113		2203	4300	6503	SO:0001819	synonymous_variant	57343			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868113C>T	AJ276316	AJ276316	CCDS12950.1, CCDS74462.1	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08			2013-01-08				ENSG00000131845		ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	13505	13505	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613840	613840								Standard	Standard	XM_005259090	XM_005259090		Approved		uc010ygw.2	uc010ygw.2	Q9HCX3	Q9HCX3			ENST00000282286.5:c.876C>T	19.37:g.57868113C>T			ZNF304_ENST00000598744.1_Silent_p.H250H|ZNF304_ENST00000443917.2_Silent_p.H339H|ZNF304_ENST00000282286.5_Silent_p.H292H	p.H292H	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1160	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	292			Silent	SNP	ENST00000282286.5	37	c.876C>T	CCDS12950.1																																																																																									0.418	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		39.700664	6	6	78	78			15	42.100835	42.100835	39	0.277778	0	0	0	1	0	15	39	0.277778
SAP30BP	29115	broad.mit.edu	37	17	73695881	73695881	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr17:73695881T>C	ENST00000584667.1	+	5	583	c.326T>C	c.(325-327)gTt>gCt	p.V109A	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.V93A	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTGAAAGAGTTCGGAACATG	0.453																																						ENST00000584667.1											0			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(325-327)gTt>gCt	SAP30 binding protein						123.0	135.0	131.0					17																	73695881		2203	4300	6503	SO:0001583	missense	29115			apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73695881T>C	AY082382	AY082382	CCDS11726.1	CCDS11726.1	17q25.1	2006-01-05			2006-01-05				ENSG00000161526		ENSG00000161526				30785	30785	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610218	610218						15496587	15496587	Standard	Standard	NM_013260	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	uc002jpe.3	Q9UHR5	Q9UHR5			ENST00000584667.1:c.326T>C	17.37:g.73695881T>C	ENSP00000462116:p.Val109Ala		SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.V93A	p.V109A	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	583	+	all_cancers(13;6.42e-08)		109			Missense_Mutation	SNP	ENST00000584667.1	37	c.326T>C	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898561	0.72639	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.59436	1.845	0.80722	D	1	P;B	0.36837	0.571;0.435	B;B	0.39027	0.288;0.104	T	0.52056	-0.8626	9	0.08179	T	0.78	0.2873	15.7741	0.78198	0.0:0.0:0.0:1.0	.	93;109	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	A	109;109;93	.	ENSP00000293208:V93A	V	+	2	0	0	SAP30BP	71207476	71207476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.111000	0.64477	0.533000	0.62120	GTT		0.453	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1		-9.440121	-25	-25	139	139	NM_013260		9	20.644623	20.644623	140	0.060403	0	0	0	1	0	9	140	0.060403
ATP8B3	148229	ucsc.edu	37	19	1809699	1809699	+	Silent	SNP	G	G	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:1809699G>T	ENST00000310127.6	-	4	583	c.345C>A	c.(343-345)gcC>gcA	p.A115A	ATP8B3_ENST00000539485.1_Silent_p.A115A|ATP8B3_ENST00000526092.2_Silent_p.A62A|ATP8B3_ENST00000525591.1_Silent_p.A62A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	115					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GCCCGTTGTAGGCACGGTTGT	0.632																																																	0																	55.0	65.0	62.0					19																	1809699		1984	4153	6137	SO:0001819	synonymous_variant	148229							AA827939	AA827939	CCDS45901.1, CCDS54196.1	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270	ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	"""ATPases / P-type"""	13535	13535	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""		"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	11015572	Standard	Standard	NM_138813	NM_138813		Approved	ATPIK	uc002ltw.4	uc002ltw.4	O60423	O60423	OTTHUMG00000166189	OTTHUMG00000166189	ENST00000310127.6:c.345C>A	19.37:g.1809699G>T																		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37		CCDS45901.1	.	.	.	.	.	.	.	.	.	.	g	7.561	0.664698	0.14710	.	.	ENSG00000130270	ENST00000533993	.	.	.	4.44	2.08	0.27032	4.44	2.08	0.27032	.	.	.	.	.	T	0.36963	0.0986	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	T	0.35425	-0.9789	5	0.87932	D	0	.	3.8307	0.08873	0.2731:0.0:0.536:0.1909	.	.	.	.	H	78	.	ENSP00000444334:P78H	P	-	2	0	0	ATP8B3	1760699	1760699	0.331000	0.24713	0.008000	0.14137	0.005000	0.04900	0.548000	0.23314	0.864000	0.35578	0.561000	0.74099	CCT		0.632	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1			17	17	39	39	NM_138813		4			16							4	16	
OCLN	100506658	broad.mit.edu	37	5	68809848	68809848	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr5:68809848G>A	ENST00000355237.2	+	4	1239	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	OCLN_ENST00000380766.2_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Missense_Mutation_p.R17Q|OCLN_ENST00000396442.2_Missense_Mutation_p.R268Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	268	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTGAAAACTCGAAGAAAGATG	0.398																																						ENST00000355237.2											0			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(802-804)cGa>cAa	occludin						116.0	110.0	112.0					5																	68809848		2203	4300	6503	SO:0001583	missense	100506658			cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68809848G>A	U49184	U49184	CCDS4006.1, CCDS54864.1	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			2014-06-13			ENSG00000197822	ENSG00000197822	ENSG00000197822	ENSG00000197822				8104	8104	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876	602876						8601611	8601611	Standard	Standard	NM_002538	NM_002538		Approved	PPP1R115	uc003jwu.3	uc003jwu.3	Q16625	Q16625	OTTHUMG00000099356	OTTHUMG00000099356	ENST00000355237.2:c.803G>A	5.37:g.68809848G>A	ENSP00000347379:p.Arg268Gln		OCLN_ENST00000380766.2_Intron|OCLN_ENST00000538151.1_Missense_Mutation_p.R17Q|OCLN_ENST00000396442.2_Missense_Mutation_p.R268Q|OCLN_ENST00000542132.1_Intron	p.R268Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	1239	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	268	MARVEL.	B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.803G>A	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110377	0.94292	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000538151	T;T	0.60920	0.15;0.15	5.84	4.97	0.65823	5.84	4.97	0.65823	Marvel (1);	0.059384	0.64402	N	0.000001	T	0.77315	0.4112	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81212	-0.1035	10	0.87932	D	0	-23.569	13.9828	0.64315	0.0741:0.0:0.9259:0.0	.	268	Q16625	OCLN_HUMAN	Q	268;268;17	ENSP00000347379:R268Q;ENSP00000379719:R268Q	ENSP00000347379:R268Q	R	+	2	0	0	OCLN	68845604	68845604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.407000	0.97325	1.472000	0.48140	0.591000	0.81541	CGA		0.398	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1		61.189517	15	15	71	71	NM_002538		20	61.795845	61.795845	32	0.384615	0	0	0	1	0	20	32	0.384615
CSMD3	114788	broad.mit.edu	37	8	113585861	113585861	+	Missense_Mutation	SNP	G	G	C	rs143652338		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr8:113585861G>C	ENST00000297405.5	-	24	4155	c.3911C>G	c.(3910-3912)aCt>aGt	p.T1304S	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1264S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1200S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1304S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1304	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGTAGATGAGTCGTTTTATC	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5											0			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						c.(3910-3912)aCt>aGt	CUB and Sushi multiple domains 3	G	SER/THR,SER/THR,SER/THR	0,4406		0,0,2203	98.0	97.0	98.0		3599,3911,3791	4.8	1.0	8	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	58,58,58	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign,benign	1200/3539,1304/3708,1264/3668	113585861	1,13005	2203	4300	6503	SO:0001583	missense	114788				integral to membrane|plasma membrane		g.chr8:113585861G>C	AY210419	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			2007-01-06			ENSG00000164796	ENSG00000164796	ENSG00000164796	ENSG00000164796				19291	19291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608399	608399								Standard	Standard	NM_052900	NM_052900		Approved		uc003ynu.3	uc003ynu.3	Q7Z407	Q7Z407	OTTHUMG00000157027	OTTHUMG00000157027	ENST00000297405.5:c.3911C>G	8.37:g.113585861G>C	ENSP00000297405:p.Thr1304Ser		CSMD3_ENST00000455883.2_Missense_Mutation_p.T1200S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1264S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1304S	p.T1304S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			24	4155	-			1304	CUB 7.	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3911C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928516	0.34002	0.0	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	4.85	4.85	0.62838	4.85	4.85	0.62838	CUB (5);	0.079522	0.53938	D	0.000058	T	0.06735	0.0172	N	0.00133	-2.03	0.38516	D	0.948603	B;B;B	0.21688	0.059;0.03;0.0	B;B;B	0.23018	0.042;0.043;0.002	T	0.36720	-0.9736	10	0.08837	T	0.75	.	18.1525	0.89678	0.0:0.0:1.0:0.0	.	1200;1304;1264	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1264;1304;644;1200;1304	ENSP00000345799:T1264S;ENSP00000297405:T1304S;ENSP00000341558:T644S;ENSP00000412263:T1200S;ENSP00000343124:T1304S	ENSP00000297405:T1304S	T	-	2	0	0	CSMD3	113655037	113655037	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	9.411000	0.97342	2.496000	0.84212	0.591000	0.81541	ACT		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		37.202915	13	13	90	90	NM_052900		20	55.113244	55.113244	123	0.139860	0	0	0	1	0	20	123	0.13986
MBNL2	10150	broad.mit.edu	37	13	97986550	97986550	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr13:97986550C>G	ENST00000376673.3	+	3	976	c.195C>G	c.(193-195)aaC>aaG	p.N65K	MBNL2_ENST00000345429.6_Missense_Mutation_p.N65K|MBNL2_ENST00000397601.1_Missense_Mutation_p.N65K|MBNL2_ENST00000343600.4_Missense_Mutation_p.N65K|MBNL2_ENST00000445661.2_Missense_Mutation_p.N65K			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	65					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CGAGAGAGAACTGCAAGTATC	0.398																																						ENST00000345429.6											0			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(193-195)aaC>aaG	muscleblind-like splicing regulator 2						77.0	73.0	74.0					13																	97986550		2203	4300	6503	SO:0001583	missense	10150			mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97986550C>G	AF061261	AF061261	CCDS9483.1, CCDS9484.1	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793	ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	"""Zinc fingers, CCCH-type domain containing"""	16746	16746	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607327	607327	"""muscleblind-like 2 (Drosophila)"""		"""muscleblind-like 2 (Drosophila)"""			11929853	11929853	Standard	Standard	NM_207304	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	uc001vmz.4	Q5VZF2	Q5VZF2	OTTHUMG00000017239	OTTHUMG00000017239	ENST00000376673.3:c.195C>G	13.37:g.97986550C>G	ENSP00000365861:p.Asn65Lys		MBNL2_ENST00000445661.2_Missense_Mutation_p.N65K|MBNL2_ENST00000376673.3_Missense_Mutation_p.N65K|MBNL2_ENST00000343600.4_Missense_Mutation_p.N65K|MBNL2_ENST00000397601.1_Missense_Mutation_p.N65K	p.N65K	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		3	976	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		65		Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.195C>G		.	.	.	.	.	.	.	.	.	.	C	13.84	2.357725	0.41801	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673;ENST00000445661	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.88	5.03	0.67393	5.88	5.03	0.67393	Zinc finger, CCCH-type (2);	0.089398	0.85682	D	0.000000	T	0.49372	0.1553	L	0.28649	0.875	0.41617	D	0.988941	D;B;B;P	0.61080	0.989;0.032;0.007;0.865	D;B;B;P	0.68483	0.958;0.057;0.035;0.799	T	0.39722	-0.9600	10	0.41790	T	0.15	.	12.711	0.57089	0.0:0.8707:0.0:0.1293	.	65;65;65;65	B4E3F7;Q5VZF2;A2A3S3;Q5VZF2-2	.;MBNL2_HUMAN;.;.	K	65	ENSP00000380726:N65K;ENSP00000344214:N65K;ENSP00000267287:N65K;ENSP00000365861:N65K;ENSP00000406842:N65K	ENSP00000344214:N65K	N	+	3	2	2	MBNL2	96784551	96784551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.191000	0.42640	2.805000	0.96524	0.551000	0.68910	AAC		0.398	MBNL2-202	KNOWN	basic	protein_coding	protein_coding			-3.318080	-2	-2	66	66	NM_144778		3	7.078099	7.078099	48	0.058824	0	0	0	1	0	3	48	0.058824
PANK1	53354	broad.mit.edu	37	10	91404916	91404916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr10:91404916delC	ENST00000307534.4	-	1	299	c.144delG	c.(142-144)gggfs	p.G48fs	RP11-80H5.6_ENST00000428166.1_lincRNA|PANK1_ENST00000342512.3_5'Flank|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000371774.2_5'Flank|PANK1_ENST00000322191.6_5'Flank|RP11-80H5.2_ENST00000454174.1_RNA|RP11-80H5.2_ENST00000451733.1_RNA	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	48					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TCCCCGCGCACCCCCAGCCGG	0.786																																						ENST00000307534.4											0			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(142-144)gggfs	pantothenate kinase 1						3.0	4.0	4.0					10																	91404916		1257	2904	4161	SO:0001589	frameshift_variant	53354			coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91404916delC	AF355198	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782	ENSG00000152782	ENSG00000152782				8598	8598	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606160	606160	"""pantothenate kinase"""	PANK	"""pantothenate kinase"""	PANK		11809413	11809413	Standard	Standard	NM_148977	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	uc001kgp.2	Q8TE04	Q8TE04	OTTHUMG00000018718	OTTHUMG00000018718	ENST00000307534.4:c.144delG	10.37:g.91404916delC	ENSP00000302108:p.Gly48fs			p.G48fs	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			1	299	-			48		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Frame_Shift_Del	DEL	ENST00000307534.4	37	c.144delG	CCDS31244.1																																																																																									0.786	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		.	.	-4	-4	6	6			5			2	0.71						5	2	0.71
MCRS1	10445	broad.mit.edu	37	12	49959401	49959401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr12:49959401delC	ENST00000550165.1	-	5	465	c.199delG	c.(199-201)gcafs	p.A67fs	MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000357123.4_Frame_Shift_Del_p.A80fs|MCRS1_ENST00000343810.4_Frame_Shift_Del_p.A67fs|MCRS1_ENST00000547182.1_5'Flank			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	67	Ser-rich.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GAAGATTTTGCCAGGCTGCTC	0.562																																						ENST00000550165.1											0			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						c.(199-201)gcafs	microspherule protein 1						153.0	162.0	159.0					12																	49959401		2203	4300	6503	SO:0001589	frameshift_variant	10445			DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49959401delC	BC011794	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06			2011-07-06				ENSG00000187778		ENSG00000187778		"""INO80 complex subunits"""	"""INO80 complex subunits"""	6960	6960	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	"""INO80 complex subunit Q"""	609504	609504						9765390, 9654073	9765390, 9654073	Standard	Standard	NM_006337	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	uc001rui.1	Q96EZ8	Q96EZ8			ENST00000550165.1:c.199delG	12.37:g.49959401delC	ENSP00000448056:p.Ala67fs		MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000357123.4_Frame_Shift_Del_p.A80fs|MCRS1_ENST00000343810.4_Frame_Shift_Del_p.A67fs	p.A67fs			Q96EZ8	MCRS1_HUMAN			5	465	-			67	Ser-rich.	O14742|O75497|Q6VN53|Q7Z372	Frame_Shift_Del	DEL	ENST00000550165.1	37	c.199delG	CCDS8787.1																																																																																									0.562	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	.	.	3	3	176	176	NM_006337		67			113	0.37						67	113	0.37
LOC645752	645752	broad.mit.edu	37	15	78215207	78215207	+	lincRNA	DEL	C	C	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr15:78215207delC	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							TTCTTCAGGGCCCCAAGGGGA	0.572																																						ENST00000567226.1											0																																																0						g.chr15:78215207delC																																																		15.37:g.78215207delC											0	306	-						RNA	DEL	ENST00000565869.1	37																																																																																											0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1	.	.	-4	-4	31	31			12			11	0.52						12	11	0.52
