#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_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
ITPR2	3709	broad.mit.edu	37	12	26816711	26816712	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:26816711_26816712delAT	ENST00000381340.3	-	15	2035_2036	c.1619_1620delAT	c.(1618-1620)gatfs	p.D540fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	540					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GATCCCCCAGATCTTCAAGTCT	0.46																																						ENST00000381340.3		NA																ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(1618-1620)gatfs		inositol 1,4,5-trisphosphate receptor, type 2																																				SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26816711_26816712delAT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1619_1620delAT	12.37:g.26816711_26816712delAT	ENSP00000370744:p.Asp540fs	False	False		Somatic	1					p.D540fs	NM_002223.2	NP_002214.2	WXS	Illumina HiSeq	Phase_I	Q14571	ITPR2_HUMAN			15	2035_2036	-	Colorectal(261;0.0847)		540					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.1619_1620delAT	CCDS41764.1																																																																																				0.460	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	0	NM_002223		12:26816711
KIAA0556	23247	broad.mit.edu	37	16	27720186	27720226	+	Frame_Shift_Del	DEL	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	-	rs115314923|rs201676999|rs149790544|rs12930355|rs199696449	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	-	-	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:27720186_27720226delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	ENST00000261588.4	+	13	1569_1609	c.1550_1590delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	c.(1549-1590)atccggaacacagccacgcctggggagctgggccgcctcgtcfs	p.IRNTATPGELGRLV517fs	CTD-2049O4.1_ENST00000568831.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	517						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T522M(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GATGTGGATATCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTCAACAGGAACT	0.527																																						ENST00000261588.4		NA																	1	Substitution - Missense(1)	p.T522M(1)	large_intestine(1)	breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(1549-1590)atccggaacacagccacgcctggggagctgggccgcctcgtcfs		KIAA0556																																				SO:0001589	frameshift_variant	23247							g.chr16:27720186_27720226delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1550_1590delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	16.37:g.27720186_27720226delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	ENSP00000261588:p.Ile517fs	True	False		Somatic	1				CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000568831.1_RNA	p.IRNTATPGELGRLV517fs	NM_015202.2	NP_056017.2	WXS	Illumina HiSeq	Phase_I	O60303	K0556_HUMAN			13	1569_1609	+			517					A7E2C2	Frame_Shift_Del	DEL	ENST00000261588.4	37	c.1550_1590delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	CCDS32415.1																																																																																				0.527	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	0	NM_015202		16:27720186
TP53	7157	broad.mit.edu	37	17	7578180	7578190	+	Frame_Shift_Del	DEL	AGGCGGCTCAT	AGGCGGCTCAT	-	rs121912666|rs72661118|rs138983188|rs146340390		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	AGGCGGCTCAT	AGGCGGCTCAT	-	-	AGGCGGCTCAT	AGGCGGCTCAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:7578180_7578190delAGGCGGCTCAT	ENST00000269305.4	-	6	848_858	c.659_669delATGAGCCGCCT	c.(658-669)tatgagccgcctfs	p.YEPP220fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCAGACCTCAGGCGGCTCATAGGGCACCAC	0.55		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		418	Substitution - Missense(342)|Substitution - Nonsense(20)|Deletion - Frameshift(15)|Unknown(12)|Substitution - coding silent(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)	p.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(1)	ovary(64)|breast(58)|upper_aerodigestive_tract(50)|lung(44)|urinary_tract(25)|large_intestine(23)|oesophagus(20)|stomach(19)|haematopoietic_and_lymphoid_tissue(19)|central_nervous_system(18)|liver(18)|endometrium(14)|soft_tissue(10)|biliary_tract(7)|skin(6)|prostate(5)|bone(5)|pancreas(4)|peritoneum(2)|thyroid(2)|vulva(1)|meninges(1)|salivary_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-669)tatgagccgcctfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578180_7578190delAGGCGGCTCAT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659_669delATGAGCCGCCT	17.37:g.7578180_7578190delAGGCGGCTCAT	ENSP00000269305:p.Tyr220fs	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	1				TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs	p.YEPP220fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791_801	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.659_669delATGAGCCGCCT	CCDS11118.1																																																																																				0.550	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578180
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:46279833_46279834delGC	ENST00000371998.3	+	20	3950_3951	c.3759_3760delGC	c.(3757-3762)cagcaafs	p.QQ1253fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.QQ1249fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55																																						ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3750)cagcaafs		nuclear receptor coactivator 3																																				SO:0001589	frameshift_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833_46279834delGC	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759_3760delGC	20.37:g.46279833_46279834delGC	ENSP00000361066:p.Gln1253fs	True	False		Somatic	1				NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs	p.QQ1249fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3963_3964	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	37	c.3747_3748delGC	CCDS13407.1																																																																																				0.550	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279833
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
ESPNP	284729	broad.mit.edu	37	1	17029302	17029364	+	RNA	DEL	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-	rs544457949		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-	-	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	ENST00000492551.1	-	0	1001_1063					NR_026567.1				espin pseudogene																		TGGGTAGCTAggtgggggtgggggcagttgggtgcctgggggcgggggtggcggggggaagctgggtgggggtggtgggggta	0.627																																						ENST00000492551.1		NA																	0					NA																																														0							g.chr1:17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT		True	False		Somatic	1						NR_026567.1		WXS	Illumina HiSeq	Phase_I					0	1001_1063	-			NA						RNA	DEL	ENST00000492551.1	37																																																																																						0.627	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1	0			1:17029302
RARRES1	5918	broad.mit.edu	37	3	158428704	158428735	+	Splice_Site	DEL	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	-	-	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:158428704_158428735delCACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	ENST00000237696.5	-	3	620_638	c.340_358delTTTAACTCCACAGTCTTTACTTCAGGAAGGTG	c.(340-360)tttaactccacagtctttact>ct	p.FNSTVFT114fs	RARRES1_ENST00000479756.1_Splice_Site_p.FNSTVFT114fs|RARRES1_ENST00000498640.1_Intron	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	114					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAACGTCCCTCACCTTCCTGAAGTAAAGACTGTGGAGTTAAACAGGATACTT	0.453																																						ENST00000237696.5		NA																	0				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(340-360)tttaactccacagtctttact>ct		retinoic acid receptor responder (tazarotene induced) 1	Tretinoin(DB00755)																																			SO:0001630	splice_region_variant	0				negative regulation of cell proliferation	integral to membrane		g.chr3:158428704_158428735delCACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"""latexin-like"""	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.340-1TTTAACTCCACAGTCTTTACTTCAGGAAGGTG>-	3.37:g.158428704_158428735delCACCTTCCTGAAGTAAAGACTGTGGAGTTAAA		True	False		Somatic	1				RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Splice_Site_p.FNSTVFT114fs	p.FNSTVFT114fs	NM_206963.1	NP_996846.1	WXS	Illumina HiSeq	Phase_I	P49788	TIG1_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		3	620_638	-			114					Q8N1D7	Splice_Site	DEL	ENST00000237696.5	37	c.340_358delTTTAACTCCACAGTCTTTACTTCAGGAAGGTG	CCDS3184.1																																																																																				0.453	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1	0		Frame_Shift_Del	3:158428704
PCSK1	5122	broad.mit.edu	37	5	95765020	95765021	+	Splice_Site	INS	-	-	TAC			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:95765020_95765021insTAC	ENST00000311106.3	-	2	418_419	c.181_182insGTA	c.(181-183)att>aGTAtt	p.60_61insS	PCSK1_ENST00000508626.1_Splice_Site_p.13_14insS|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	60					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGTGAACCAATCTATAAAAGG	0.322																																						ENST00000311106.3		NA																	0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(181-183)att>aGTAtt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001630	splice_region_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95765020_95765021insTAC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.181-1->GTA	5.37:g.95765020_95765021insTAC		False	False		Somatic	0				PCSK1_ENST00000508626.1_Splice_Site_p.13_14insS|CTD-2337A12.1_ENST00000502645.2_RNA	p.60_61insS	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	WXS	Illumina HiSeq	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	2	418_419	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	60					B7Z8T7|E9PHA1|P78478|Q92532	Splice_Site	INS	ENST00000311106.3	37	c.181_182insGTA	CCDS4081.1																																																																																				0.322	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	0	NM_000439	In_Frame_Ins	5:95765020
PABPC1	26986	broad.mit.edu	37	8	101719035	101719036	+	Splice_Site	DEL	TA	TA	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:101719035_101719036delTA	ENST00000318607.5	-	11	2576		c.e11-2		PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTGTTAGCTAAAAAATAAGA	0.426																																						ENST00000318607.5		NA																	0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.e11-2		poly(A) binding protein, cytoplasmic 1																																				SO:0001630	splice_region_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719035_101719036delTA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1448-2TA>-	8.37:g.101719035_101719036delTA		True	False		Somatic	1				PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site|PABPC1_ENST00000519596.1_Intron		NM_002568.3	NP_002559.2	WXS	Illumina HiSeq	Phase_I	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		11	2576	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		NA					Q15097|Q93004	Splice_Site	DEL	ENST00000318607.5	37		CCDS6289.1																																																																																				0.426	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	0	NM_002568	Intron	8:101719035
ONECUT1	3175	broad.mit.edu	37	15	53081647	53081647	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:53081647C>T	ENST00000305901.5	-	1	562	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	145					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AGCTACCGCTCACGTTGCCCG	0.642																																						ENST00000305901.5		NA																	0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(433-435)gtG>gtA		one cut homeobox 1							49.0	54.0	52.0					15																	53081647		2194	4293	6487	SO:0001819	synonymous_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081647C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.435G>A	15.37:g.53081647C>T		False	False		Somatic	0				ONECUT1_ENST00000561401.2_Intron	p.V145V	NM_004498.2	NP_004489.1	WXS	Illumina HiSeq	Phase_I	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	562	-			145					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.435G>A	CCDS10150.1																																																																																				0.642	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2	0			15:53081647
SLMO2	51012	broad.mit.edu	37	20	57613612	57613612	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:57613612T>A	ENST00000355937.4	-	2	288	c.110A>T	c.(109-111)gAt>gTt	p.D37V	SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	37	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			GTCCAACACATCAACTCCAAC	0.478																																						ENST00000355937.4		NA																	0				endometrium(1)|lung(2)|skin(2)	5						c.(109-111)gAt>gTt		slowmo homolog 2 (Drosophila)							125.0	119.0	121.0					20																	57613612		1937	4140	6077	SO:0001583	missense	51012							g.chr20:57613612T>A	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.110A>T	20.37:g.57613612T>A	ENSP00000348206:p.Asp37Val	False	False		Somatic	0				SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V	p.D37V	NM_016045.2	NP_057129.2	WXS	Illumina HiSeq	Phase_I	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	288	-	all_lung(29;0.00711)		37			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	37	c.110A>T	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560690	0.86335	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.32515	1.45;1.45	5.36	5.36	0.76844	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.936;0.996	T	0.81703	-0.0812	10	0.87932	D	0	-10.0953	14.8261	0.70113	0.0:0.0:0.0:1.0	.	37;37	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	V	37	ENSP00000348206:D37V;ENSP00000360072:D37V	ENSP00000348206:D37V	D	-	2	0	SLMO2	57047007	1.000000	0.71417	0.922000	0.36590	0.997000	0.91878	7.578000	0.82498	2.153000	0.67306	0.533000	0.62120	GAT		0.478	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	0	NM_016045		20:57613612
LINS	55180	broad.mit.edu	37	15	101115212	101115212	+	Missense_Mutation	SNP	T	T	C	rs572636883		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:101115212T>C	ENST00000314742.8	-	4	833	c.611A>G	c.(610-612)gAt>gGt	p.D204G	LINS_ENST00000560133.1_Missense_Mutation_p.D85G|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.D204G	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	204										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGAACATGAATCTTTAAAGAT	0.338																																						ENST00000314742.8		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(610-612)gAt>gGt		lines homolog (Drosophila)							85.0	82.0	83.0					15																	101115212		2203	4298	6501	SO:0001583	missense	55180							g.chr15:101115212T>C	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.611A>G	15.37:g.101115212T>C	ENSP00000318423:p.Asp204Gly	False	False		Somatic	0				LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.D204G|LINS_ENST00000560133.1_Missense_Mutation_p.D85G	p.D204G	NM_001040616.2	NP_001035706.1	WXS	Illumina HiSeq	Phase_I	Q8NG48	LINES_HUMAN			4	833	-			204					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.611A>G	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101550	0.56183	.	.	ENSG00000140471	ENST00000314742	T	0.39056	1.1	5.89	4.72	0.59763	.	0.106857	0.64402	D	0.000005	T	0.56217	0.1970	L	0.55834	1.745	0.34460	D	0.701637	D;D;D	0.89917	0.996;0.995;1.0	D;P;D	0.70716	0.921;0.814;0.97	T	0.64803	-0.6321	10	0.34782	T	0.22	-18.4759	12.9119	0.58184	0.0:0.0:0.1443:0.8557	.	85;204;204	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	G	204	ENSP00000318423:D204G	ENSP00000318423:D204G	D	-	2	0	LINS	98932735	0.995000	0.38212	0.934000	0.37439	0.591000	0.36615	2.642000	0.46596	2.254000	0.74563	0.533000	0.62120	GAT		0.338	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	0	NM_018148		15:101115212
MYO18B	84700	broad.mit.edu	37	22	26164808	26164808	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:26164808G>T	ENST00000407587.2	+	4	1094	c.925G>T	c.(925-927)Gta>Tta	p.V309L	MYO18B_ENST00000335473.7_Missense_Mutation_p.V309L|MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	309						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGGAAGCACGTAAGGCCCCA	0.557																																						ENST00000335473.7		NA																	0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(925-927)Gta>Tta		myosin XVIIIB							27.0	29.0	29.0					22																	26164808		1977	4151	6128	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164808G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.925G>T	22.37:g.26164808G>T	ENSP00000386096:p.Val309Leu	False	False		Somatic	0				MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L|MYO18B_ENST00000407587.2_Missense_Mutation_p.V309L	p.V309L	NM_032608.5	NP_115997.5	WXS	Illumina HiSeq	Phase_I	Q8IUG5	MY18B_HUMAN			4	1175	+			309					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.925G>T		.	.	.	.	.	.	.	.	.	.	g	9.910	1.209362	0.22289	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86297	-2.08;-2.08;-2.1	4.6	1.27	0.21489	.	1.784430	0.03308	N	0.190055	T	0.78168	0.4241	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.61347	-0.7081	10	0.33940	T	0.23	.	5.4849	0.16743	0.1802:0.0:0.6607:0.1591	.	309;309;309	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	L	309	ENSP00000441229:V309L;ENSP00000334563:V309L;ENSP00000386096:V309L	ENSP00000334563:V309L	V	+	1	0	MYO18B	24494808	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.692000	0.05127	0.051000	0.15978	0.306000	0.20318	GTA		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	NM_032608		22:26164808
LAMA4	3910	broad.mit.edu	37	6	112460431	112460431	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:112460431G>A	ENST00000230538.7	-	24	3570	c.3173C>T	c.(3172-3174)gCc>gTc	p.A1058V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1058	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTCACCACGGCATAACCGGA	0.488																																						ENST00000230538.7		NA																	0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(3172-3174)gCc>gTc		laminin, alpha 4							195.0	184.0	188.0					6																	112460431		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112460431G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3173C>T	6.37:g.112460431G>A	ENSP00000230538:p.Ala1058Val	False	False		Somatic	0				LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V	p.A1058V	NM_001105206.2	NP_001098676.2	WXS	Illumina HiSeq	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	24	3570	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1058			Laminin G-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3173C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180380	0.57800	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.092613	0.85682	D	0.000000	D	0.86360	0.5914	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	D	0.86224	0.1633	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	1058;1051	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1058;1051;1051;1051	ENSP00000230538:A1058V;ENSP00000429488:A1051V;ENSP00000374114:A1051V;ENSP00000416470:A1051V	ENSP00000230538:A1058V	A	-	2	0	LAMA4	112567124	1.000000	0.71417	0.889000	0.34880	0.034000	0.12701	4.986000	0.63851	2.838000	0.97847	0.655000	0.94253	GCC		0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	0	NM_001105206		6:112460431
NR1H2	7376	broad.mit.edu	37	19	50881485	50881485	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:50881485C>T	ENST00000253727.5	+	5	496	c.261C>T	c.(259-261)tgC>tgT	p.C87C	NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000599105.1_Silent_p.C87C	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	87					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACGAGCTTTGCCGTGTCTGTG	0.637																																						ENST00000253727.5		NA																	0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(259-261)tgC>tgT		nuclear receptor subfamily 1, group H, member 2							90.0	109.0	103.0					19																	50881485		2187	4297	6484	SO:0001819	synonymous_variant	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881485C>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.261C>T	19.37:g.50881485C>T		False	False		Somatic	0				NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000411902.2_Intron	p.C87C	NM_007121.5	NP_009052.3	WXS	Illumina HiSeq	Phase_I	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	496	+		all_neural(266;0.057)	87					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	c.261C>T	CCDS42593.1																																																																																				0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2	0			19:50881485
CSPP1	79848	broad.mit.edu	37	8	68015300	68015300	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:68015300C>T	ENST00000262210.5	+	7	1010	c.979C>T	c.(979-981)Cct>Tct	p.P327S	CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	362					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGGAATATGCCTCCTATGGA	0.348																																						ENST00000262210.5		NA																	0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(979-981)Cct>Tct		centrosome and spindle pole associated protein 1							122.0	114.0	116.0					8																	68015300		1868	4104	5972	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68015300C>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.979C>T	8.37:g.68015300C>T	ENSP00000262210:p.Pro327Ser	False	False		Somatic	0				CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S	p.P327S	NM_024790.6	NP_079066.5	WXS	Illumina HiSeq	Phase_I	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		7	1010	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	362					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.979C>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886309	0.33348	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.04	3.2	0.36748	.	0.298091	0.27388	N	0.019590	T	0.42675	0.1213	L	0.45581	1.43	0.19775	N	0.999954	D;P;P;P	0.71674	0.998;0.927;0.846;0.846	D;P;P;P	0.72625	0.978;0.585;0.605;0.753	T	0.12243	-1.0555	10	0.44086	T	0.13	-3.3434	8.1653	0.31222	0.0:0.8142:0.0:0.1858	.	33;327;362;362	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	S	327;362;33;33	ENSP00000262210:P327S;ENSP00000415782:P33S;ENSP00000430092:P33S	ENSP00000262210:P327S	P	+	1	0	CSPP1	68177854	0.272000	0.24172	0.560000	0.28344	0.091000	0.18340	1.084000	0.30828	0.791000	0.33826	0.655000	0.94253	CCT		0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	0	NM_024790		8:68015300
RANGAP1	5905	broad.mit.edu	37	22	41647029	41647029	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:41647029C>T	ENST00000455915.2	-	12	2934	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T|RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T|RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	489					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGCACTGCCATCCTCACA	0.557																																						ENST00000455915.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1465-1467)Gca>Aca		Ran GTPase activating protein 1							230.0	152.0	178.0					22																	41647029		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41647029C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1465G>A	22.37:g.41647029C>T	ENSP00000401470:p.Ala489Thr	False	False		Somatic	0				RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T|RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T	p.A489T			WXS	Illumina HiSeq	Phase_I	P46060	RAGP1_HUMAN			12	2934	-			489					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1465G>A	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204016	0.79127	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.53	4.53	0.55603	Ran-GTPase activating protein 1, C-terminal (3);	0.112249	0.64402	D	0.000014	D	0.95771	0.8624	M	0.77820	2.39	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.96006	0.8997	10	0.54805	T	0.06	-10.6364	16.2705	0.82616	0.0:1.0:0.0:0.0	.	434;489	F8W7I9;P46060	.;RAGP1_HUMAN	T	489;489;489;489;434	ENSP00000385866:A489T;ENSP00000348577:A489T;ENSP00000401470:A489T;ENSP00000385354:A434T	ENSP00000348577:A489T	A	-	1	0	RANGAP1	39976975	0.990000	0.36364	0.526000	0.27913	0.875000	0.50365	2.947000	0.49058	2.084000	0.62774	0.555000	0.69702	GCA		0.557	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	0	NM_002883		22:41647029
SPTA1	6708	broad.mit.edu	37	1	158612287	158612287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158612287G>A	ENST00000368147.4	-	33	4831	c.4651C>T	c.(4651-4653)Cga>Tga	p.R1551*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1551					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCTCAGATCGGCCATCGACT	0.438																																						ENST00000368148.3		NA																	0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4651-4653)Cga>Tga		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							91.0	91.0	91.0					1																	158612287		1973	4162	6135	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612287G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4651C>T	1.37:g.158612287G>A	ENSP00000357129:p.Arg1551*	False	False		Somatic	0				SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R1551*	p.R1551*	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			33	4831	-	all_hematologic(112;0.0378)		1551					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.4651C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	44	11.051605	0.99508	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.26	3.36	0.38483	.	0.337334	0.16870	N	0.196178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.5799	0.22588	0.083:0.0:0.4906:0.4264	.	.	.	.	X	1551	.	ENSP00000357129:R1551X	R	-	1	2	SPTA1	156878911	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	3.911000	0.56378	0.768000	0.33290	-0.136000	0.14681	CGA		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158612287
ALMS1	7840	broad.mit.edu	37	2	73646378	73646378	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:73646378G>A	ENST00000264448.6	+	3	689	c.578G>A	c.(577-579)gGc>gAc	p.G193D	ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D|ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	193					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGGAGGAGGGCATATTGACG	0.418																																						ENST00000264448.6		NA																	0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(577-579)gGc>gAc		Alstrom syndrome 1							137.0	132.0	134.0					2																	73646378		1848	4097	5945	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73646378G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.578G>A	2.37:g.73646378G>A	ENSP00000264448:p.Gly193Asp	True	False		Somatic	0				ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D|ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D	p.G193D	NM_015120.4	NP_055935.4	WXS	Illumina HiSeq	Phase_I	Q8TCU4	ALMS1_HUMAN			3	689	+			193					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.578G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.436	0.849757	0.17034	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.42513	2.07;1.81;0.97	4.51	2.69	0.31865	.	0.196490	0.25372	N	0.031150	T	0.30978	0.0782	L	0.36672	1.1	0.20703	N	0.999867	B;B	0.27498	0.18;0.18	B;B	0.31442	0.13;0.13	T	0.28522	-1.0041	10	0.87932	D	0	.	5.4853	0.16747	0.1022:0.0:0.7002:0.1976	.	151;193	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	D	151;193;193	ENSP00000386627:G151D;ENSP00000264448:G193D;ENSP00000366944:G193D	ENSP00000264448:G193D	G	+	2	0	ALMS1	73499886	0.941000	0.31946	0.353000	0.25747	0.203000	0.24098	1.499000	0.35671	0.623000	0.30267	0.655000	0.94253	GGC		0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	0	NM_015120		2:73646378
WDR33	55339	broad.mit.edu	37	2	128466262	128466262	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:128466262C>T	ENST00000322313.4	-	21	3928	c.3770G>A	c.(3769-3771)cGa>cAa	p.R1257Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1257					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTGCCTCCTCGGTCTTCAGA	0.612																																						ENST00000322313.4		NA																	0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3769-3771)cGa>cAa		WD repeat domain 33							126.0	126.0	126.0					2																	128466262		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128466262C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3770G>A	2.37:g.128466262C>T	ENSP00000325377:p.Arg1257Gln	False	False		Somatic	0					p.R1257Q	NM_018383.4	NP_060853.3	WXS	Illumina HiSeq	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	21	3928	-	Colorectal(110;0.1)		1257					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3770G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759078	0.89843	.	.	ENSG00000136709	ENST00000322313	D	0.90324	-2.65	5.04	5.04	0.67666	.	0.077936	0.51477	D	0.000094	T	0.78496	0.4292	N	0.14661	0.345	0.80722	D	1	P	0.48998	0.918	B	0.32533	0.147	T	0.81357	-0.0969	10	0.48119	T	0.1	-9.4874	11.5723	0.50841	0.0:0.8202:0.1798:0.0	.	1257	Q9C0J8	WDR33_HUMAN	Q	1257	ENSP00000325377:R1257Q	ENSP00000325377:R1257Q	R	-	2	0	WDR33	128182732	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.410000	0.44592	2.640000	0.89533	0.655000	0.94253	CGA		0.612	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	0	NM_018383		2:128466262
TAS2R8	50836	broad.mit.edu	37	12	10959184	10959184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:10959184C>T	ENST00000240615.2	-	1	708	c.396G>A	c.(394-396)tgG>tgA	p.W132*		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	132					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGCAGGATCCAGTGCACCA	0.413																																						ENST00000240615.2		NA																	0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(394-396)tgG>tgA		taste receptor, type 2, member 8							96.0	88.0	91.0					12																	10959184		2203	4299	6502	SO:0001587	stop_gained	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959184C>T	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.396G>A	12.37:g.10959184C>T	ENSP00000240615:p.Trp132*	False	False		Somatic	0					p.W132*	NM_023918.1	NP_076407.1	WXS	Illumina HiSeq	Phase_I	Q9NYW2	TA2R8_HUMAN			1	708	-			132					Q4KN29|Q645Y2	Nonsense_Mutation	SNP	ENST00000240615.2	37	c.396G>A	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342008	0.95783	.	.	ENSG00000121314	ENST00000240615	.	.	.	4.47	0.811	0.18739	.	0.924044	0.08834	U	0.886839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.9053	0.13795	0.1496:0.6025:0.147:0.1009	.	.	.	.	X	132	.	ENSP00000240615:W132X	W	-	3	0	TAS2R8	10850451	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.151000	0.10175	0.280000	0.22209	0.557000	0.71058	TGG		0.413	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1	0			12:10959184
GBA	2629	broad.mit.edu	37	1	155210420	155210420	+	Splice_Site	SNP	C	C	T	rs104886460	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210420C>T	ENST00000327247.5	-	3	348		c.e3+1		GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000493842.1_Splice_Site|GBA_ENST00000428024.3_Intron|GBA_ENST00000427500.3_Splice_Site	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GACTCACTCACCTGATGCCCA	0.527									Gaucher disease type I				c|||	2	0.000399361	0.0	0.0	5008	,	,		19041	0.001		0.001	False		,,,				2504	0.0					ENST00000327247.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	GRCh37	CS920754|CS982204	GBA	S	rs104886460	c.e3+1		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						197.0	180.0	185.0					1																	155210420		2203	4300	6503	SO:0001630	splice_region_variant	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155210420C>T	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.115+1G>A	1.37:g.155210420C>T		True	False		Somatic	0				GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000427500.2_Splice_Site|GBA_ENST00000493842.1_Splice_Site|GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000428024.2_Intron		NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	WXS	Illumina HiSeq	Phase_I	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	348	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		NA					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Splice_Site	SNP	ENST00000327247.5	37		CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045608	0.75846	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9121	0.47114	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GBA	153477044	1.000000	0.71417	0.857000	0.33713	0.875000	0.50365	2.207000	0.42788	2.024000	0.59613	0.591000	0.81541	.		0.527	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	0	NM_000157	Intron	1:155210420
MYH13	8735	broad.mit.edu	37	17	10209864	10209864	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:10209864G>A	ENST00000418404.3	-	36	5541	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1793					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCCTTCACCGTCTGCTCCAG	0.552																																						ENST00000418404.3		NA																	0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5377-5379)aCg>aTg		myosin, heavy chain 13, skeletal muscle							148.0	148.0	148.0					17																	10209864		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209864G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5378C>T	17.37:g.10209864G>A	ENSP00000404570:p.Thr1793Met	False	False		Somatic	0				MYH13_ENST00000570743.1_Missense_Mutation_p.T1793M|MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M	p.T1793M			WXS	Illumina HiSeq	Phase_I	Q9UKX3	MYH13_HUMAN			36	5541	-			1793					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5378C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779373	0.70107	.	.	ENSG00000006788	ENST00000252172	T	0.78246	-1.16	4.22	4.22	0.49857	Myosin tail (1);	.	.	.	.	D	0.86648	0.5983	H	0.95850	3.73	0.38306	D	0.943117	B	0.30193	0.272	B	0.39617	0.305	D	0.89946	0.4076	9	0.72032	D	0.01	.	12.7179	0.57125	0.0831:0.0:0.9169:0.0	.	1793	Q9UKX3	MYH13_HUMAN	M	1793	ENSP00000252172:T1793M	ENSP00000252172:T1793M	T	-	2	0	MYH13	10150589	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.439000	0.73430	2.347000	0.79759	0.491000	0.48974	ACG		0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	0	NM_003802		17:10209864
RMND5B	64777	broad.mit.edu	37	5	177574596	177574596	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:177574596G>A	ENST00000515098.1	+	10	1274	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q|RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	308										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTGAGCAGCGGCAGTGCACT	0.577																																						ENST00000515098.1		NA																	0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(922-924)cGg>cAg		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							96.0	87.0	90.0					5																	177574596		2203	4300	6503	SO:0001583	missense	64777							g.chr5:177574596G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.923G>A	5.37:g.177574596G>A	ENSP00000420875:p.Arg308Gln	False	False		Somatic	0				RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q|RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q	p.R308Q			WXS	Illumina HiSeq	Phase_I	Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1274	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	308					Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.923G>A	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360506	0.95877	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.964;0.984;0.975	T	0.75897	-0.3155	9	0.38643	T	0.18	-25.4369	17.5078	0.87750	0.0:0.0:1.0:0.0	.	295;295;308	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	Q	308;308;295	.	ENSP00000320623:R308Q	R	+	2	0	RMND5B	177507202	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	9.602000	0.98312	2.724000	0.93272	0.563000	0.77884	CGG		0.577	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	0	NM_022762		5:177574596
CFB	629	broad.mit.edu	37	6	31917095	31917095	+	Missense_Mutation	SNP	G	G	A	rs150398964		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:31917095G>A	ENST00000425368.2	+	9	1757	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H|CFB_ENST00000456570.1_Missense_Mutation_p.R917H	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	415	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.R415H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCAAGGATCGCAAAAACCCA	0.522																																						ENST00000456570.1		NA																	1	Substitution - Missense(1)	p.R415H(1)	lung(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2749-2751)cGc>cAc		complement factor B		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	76.0	77.0		1244	0.9	0.9	6	dbSNP_134	77	0,8600		0,0,4300	no	missense	CFB	NM_001710.5	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	415/765	31917095	1,13005	2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917095G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1244G>A	6.37:g.31917095G>A	ENSP00000416561:p.Arg415His	False	False		Somatic	0				CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000425368.2_Missense_Mutation_p.R415H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H|CFB_ENST00000497841.1_3'UTR	p.R917H			WXS	Illumina HiSeq	Phase_I	P00751	CFAB_HUMAN			21	2805	+			415					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2750G>A	CCDS4729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.19|11.19	1.566586|1.566586	0.28003|0.28003	2.27E-4|2.27E-4	0.0|0.0	ENSG00000243649|ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000483004|ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	.|T;T;T;T	.|0.78003	.|-1.14;-1.14;-1.14;-1.14	5.95|5.95	0.899|0.899	0.19271|0.19271	.|von Willebrand factor, type A (3);	.|0.469789	.|0.20245	.|N	.|0.096201	T|T	0.51618|0.51618	0.1685|0.1685	M|M	0.76328|0.76328	2.33|2.33	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.30361	.|0.277;0.021;0.02	.|B;B;B	.|0.19391	.|0.025;0.005;0.003	T|T	0.43507|0.43507	-0.9387|-0.9387	5|10	.|0.37606	.|T	.|0.19	-10.0671|-10.0671	4.8511|4.8511	0.13537|0.13537	0.3017:0.2701:0.4282:0.0|0.3017:0.2701:0.4282:0.0	.|.	.|917;415;415	.|B4E1Z4;P00751;P00751-2	.|.;CFAB_HUMAN;.	T|H	28|917;415;917;766	.|ENSP00000451848:R917H;ENSP00000416561:R415H;ENSP00000410815:R917H;ENSP00000418996:R766H	.|ENSP00000416561:R415H	A|R	+|+	1|2	0|0	CFB|CFB;XXbac-BPG116M5.17	32025074|32025074	0.000000|0.000000	0.05858|0.05858	0.886000|0.886000	0.34754|0.34754	0.262000|0.262000	0.26303|0.26303	-0.106000|-0.106000	0.10890|0.10890	0.127000|0.127000	0.18452|0.18452	-0.119000|-0.119000	0.15052|0.15052	GCA|CGC		0.522	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	0	NM_001710		6:31917095
NALCN	259232	broad.mit.edu	37	13	101736104	101736104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:101736104G>A	ENST00000251127.6	-	31	3622	c.3541C>T	c.(3541-3543)Cga>Tga	p.R1181*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1181					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTTCAGTCGGCTCTTCAGG	0.512																																						ENST00000251127.6		NA																	0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3541-3543)Cga>Tga		sodium leak channel, non-selective							76.0	74.0	74.0					13																	101736104		2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101736104G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3541C>T	13.37:g.101736104G>A	ENSP00000251127:p.Arg1181*	False	False		Somatic	0					p.R1181*	NM_052867.2	NP_443099.1	WXS	Illumina HiSeq	Phase_I	Q8IZF0	NALCN_HUMAN			31	3622	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1181					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.3541C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	41	9.100694	0.99066	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.2	1.64	0.23874	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6363	0.56685	0.0:0.0:0.5839:0.4161	.	.	.	.	X	1181	.	ENSP00000251127:R1181X	R	-	1	2	NALCN	100534105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.610000	0.36869	0.389000	0.25086	0.650000	0.86243	CGA		0.512	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	0	NM_052867		13:101736104
PACSIN1	29993	broad.mit.edu	37	6	34499564	34499564	+	Splice_Site	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:34499564G>A	ENST00000538621.1	+	9	1470	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	PACSIN1_ENST00000244458.2_Splice_Site_p.G409R|PACSIN1_ENST00000374043.2_Splice_Site_p.G367R	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	409	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTTTAAGGCCGGTAGGACGGC	0.657																																						ENST00000538621.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.e9+1		protein kinase C and casein kinase substrate in neurons 1							53.0	58.0	56.0					6																	34499564		2203	4300	6503	SO:0001630	splice_region_variant	0				endocytosis		protein kinase activity	g.chr6:34499564G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1225+1G>A	6.37:g.34499564G>A		False	False		Somatic	0				PACSIN1_ENST00000374043.2_Splice_Site_p.G367_splice|PACSIN1_ENST00000244458.2_Splice_Site_p.G409_splice	p.G409_splice	NM_001199583.1	NP_001186512.1	WXS	Illumina HiSeq	Phase_I	Q9BY11	PACN1_HUMAN			9	1470	+			409			SH3.		Q9P2G8	Splice_Site	SNP	ENST00000538621.1	37	c.1225_splice	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012484	0.93346	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.70045	-0.45;-0.45;-0.45	4.83	4.83	0.62350	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	D	0.85388	0.5685	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89421	0.3710	10	0.87932	D	0	-13.6373	17.7009	0.88294	0.0:0.0:1.0:0.0	.	409	Q9BY11	PACN1_HUMAN	R	409;367;409;409	ENSP00000244458:G409R;ENSP00000363155:G367R;ENSP00000439639:G409R	ENSP00000244458:G409R	G	+	1	0	PACSIN1	34607542	1.000000	0.71417	0.967000	0.41034	0.641000	0.38312	9.221000	0.95188	2.523000	0.85059	0.561000	0.74099	GGA		0.657	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1	0		Missense_Mutation	6:34499564
SLC25A6	293	broad.mit.edu	37	X	1508553	1508553	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:1508553C>T	ENST00000381401.5	-	2	893	c.179G>A	c.(178-180)cGc>cAc	p.R60H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	60					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGGGGATGCGGACAATGCA	0.607																																						ENST00000381401.5		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(178-180)cGc>cAc		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						189.0	169.0	176.0					X																	1508553		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508553C>T	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.179G>A	X.37:g.1508553C>T	ENSP00000370808:p.Arg60His	False	False		Somatic	0				SLC25A6_ENST00000475167.1_5'UTR	p.R60H	NM_001636.3	NP_001627.2	WXS	Illumina HiSeq	Phase_I	P12236	ADT3_HUMAN			2	893	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	60					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.179G>A	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.779028	0.31502	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.79653	-1.29	1.69	0.758	0.18432	Mitochondrial carrier domain (2);	0.119084	0.30850	U	0.008748	T	0.75838	0.3904	M	0.74546	2.27	0.09310	N	1	P	0.48503	0.911	B	0.40534	0.332	T	0.69124	-0.5228	10	0.72032	D	0.01	.	8.0252	0.30434	0.0:0.8621:0.0:0.1379	.	60	P12236	ADT3_HUMAN	H	60	ENSP00000370808:R60H	ENSP00000370808:R60H	R	-	2	0	SLC25A6	1468553	0.998000	0.40836	0.656000	0.29637	0.231000	0.25187	5.923000	0.70045	0.027000	0.15297	0.165000	0.16767	CGC		0.607	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	0	NM_001636		X:1508553
ZZEF1	23140	broad.mit.edu	37	17	3936124	3936124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:3936124G>A	ENST00000381638.2	-	41	6881	c.6757C>T	c.(6757-6759)Cag>Tag	p.Q2253*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2253							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGTGGTACCTGGGGGAAGCCA	0.537																																						ENST00000381638.2		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(6757-6759)Cag>Tag		zinc finger, ZZ-type with EF-hand domain 1							100.0	73.0	82.0					17																	3936124		2203	4300	6503	SO:0001587	stop_gained	23140						calcium ion binding|zinc ion binding	g.chr17:3936124G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6757C>T	17.37:g.3936124G>A	ENSP00000371051:p.Gln2253*	True	False		Somatic	0					p.Q2253*	NM_015113.3	NP_055928.3	WXS	Illumina HiSeq	Phase_I	O43149	ZZEF1_HUMAN			41	6881	-			2253					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	c.6757C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	37	6.573202	0.97676	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.39	4.34	0.51931	.	0.170785	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-14.6073	12.3702	0.55250	0.0:0.3496:0.6504:0.0	.	.	.	.	X	2253	.	ENSP00000371051:Q2253X	Q	-	1	0	ZZEF1	3882873	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.327000	0.65881	2.683000	0.91414	0.591000	0.81541	CAG		0.537	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	0	NM_015113		17:3936124
SGIP1	84251	broad.mit.edu	37	1	67147697	67147697	+	Silent	SNP	G	G	A	rs146689605	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:67147697G>A	ENST00000371037.4	+	15	1037	c.960G>A	c.(958-960)ccG>ccA	p.P320P	SGIP1_ENST00000237247.6_Silent_p.P324P|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	320	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATACATCCCCGGAACATGTTA	0.522																																						ENST00000371037.4		NA																	0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(958-960)ccG>ccA		SH3-domain GRB2-like (endophilin) interacting protein 1		G		2,4404	4.2+/-10.8	0,2,2201	108.0	114.0	112.0		960	4.7	1.0	1	dbSNP_134	112	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SGIP1	NM_032291.2		0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461		320/829	67147697	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147697G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.960G>A	1.37:g.67147697G>A		True	False		Somatic	0				SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P324P	p.P320P	NM_032291.2	NP_115667.2	WXS	Illumina HiSeq	Phase_I	Q9BQI5	SGIP1_HUMAN			15	1037	+			320			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.960G>A	CCDS30744.1																																																																																				0.522	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	0	NM_032291		1:67147697
ETV3L	440695	broad.mit.edu	37	1	157068581	157068581	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068581G>A	ENST00000454449.2	-	3	687	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	135					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGCGGCGCCCGCACTTCCCAC	0.577																																						ENST00000454449.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(403-405)Cgg>Tgg		ets variant 3-like							82.0	87.0	85.0					1																	157068581		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068581G>A	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.403C>T	1.37:g.157068581G>A	ENSP00000430271:p.Arg135Trp	True	False		Somatic	0					p.R135W	NM_001004341.2	NP_001004341.1	WXS	Illumina HiSeq	Phase_I	Q6ZN32	ETV3L_HUMAN			3	687	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	135						Missense_Mutation	SNP	ENST00000454449.2	37	c.403C>T	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125687	0.37533	.	.	ENSG00000253831	ENST00000454449	T	0.55413	0.52	4.61	0.269	0.15631	.	2.538740	0.02278	N	0.069120	T	0.18299	0.0439	N	0.20986	0.625	0.24495	N	0.994285	B	0.13145	0.007	B	0.09377	0.004	T	0.14643	-1.0465	10	0.51188	T	0.08	.	6.0065	0.19549	0.2498:0.0:0.617:0.1332	.	135	Q6ZN32	ETV3L_HUMAN	W	135	ENSP00000430271:R135W	ENSP00000430271:R135W	R	-	1	2	ETV3L	155335205	0.000000	0.05858	0.903000	0.35520	0.821000	0.46438	0.367000	0.20382	0.255000	0.21593	0.655000	0.94253	CGG		0.577	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	0	NM_001004341		1:157068581
CRYGD	1421	broad.mit.edu	37	2	208988967	208988967	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:208988967C>G	ENST00000264376.4	-	2	148	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	41	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		ATCCAGCAGCCGCTGTCCACG	0.662																																						ENST00000264376.4		NA																	0				breast(1)|endometrium(1)|lung(3)	5						c.(121-123)Ggc>Cgc		crystallin, gamma D							11.0	13.0	12.0					2																	208988967		2173	4247	6420	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208988967C>G		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.121G>C	2.37:g.208988967C>G	ENSP00000264376:p.Gly41Arg	False	False		Somatic	0					p.G41R	NM_006891.3	NP_008822.2	WXS	Illumina HiSeq	Phase_I	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	148	-			41			Beta/gamma crystallin 'Greek key' 2.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.121G>C	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854297	0.91355	.	.	ENSG00000118231	ENST00000264376	D	0.92752	-3.1	4.35	4.35	0.52113	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.97798	0.9277	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98877	1.0768	10	0.87932	D	0	.	14.3998	0.67034	0.0:1.0:0.0:0.0	.	41	P07320	CRGD_HUMAN	R	41	ENSP00000264376:G41R	ENSP00000264376:G41R	G	-	1	0	CRYGD	208697212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.730000	0.68546	2.245000	0.73994	0.491000	0.48974	GGC		0.662	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	0	NM_006891		2:208988967
IGHG4	3503	broad.mit.edu	37	14	106091309	106091309	+	RNA	SNP	G	G	A	rs587601903		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:106091309G>A	ENST00000390543.2	-	0	584							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										ACTCCTTGCCGTTCAGCCAGT	0.592													N|||	1	0.000199681	0.0	0.0014	5008	,	,		27604	0.0		0.0	False		,,,				2504	0.0					ENST00000390543.2		NA																	0					NA															268.0	333.0	311.0					14																	106091309		2189	4283	6472			0							g.chr14:106091309G>A	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091309G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	584	-			NA						RNA	SNP	ENST00000390543.2	37																																																																																						0.592	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	0	NG_001019		14:106091309
FARP1	10160	broad.mit.edu	37	13	98896791	98896791	+	Intron	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:98896791C>T	ENST00000319562.6	+	2	436				FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Missense_Mutation_p.T73M	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T73M(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTCCTGGACGGGTTGGGTA	0.488																																						ENST00000376581.5		NA																	1	Substitution - Missense(1)	p.T73M(1)	lung(1)	breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(217-219)aCg>aTg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							77.0	70.0	72.0					13																	98896791		2203	4300	6503	SO:0001627	intron_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:98896791C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.171+31124C>T	13.37:g.98896791C>T		True	False		Somatic	0				FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron	p.T73M	NM_001001715.2	NP_001001715.2	WXS	Illumina HiSeq	Phase_I	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		3	254	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		0			FERM.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.218C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.720448	0.00700	.	.	ENSG00000152767	ENST00000376581	T	0.52295	0.67	2.86	-5.72	0.02406	.	.	.	.	.	T	0.20941	0.0504	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18777	-1.0326	9	0.87932	D	0	.	2.3534	0.04290	0.1111:0.3886:0.1774:0.3229	.	73	Q5JVI9	.	M	73	ENSP00000365765:T73M	ENSP00000365765:T73M	T	+	2	0	FARP1	97694792	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.901000	0.00050	-4.564000	0.00042	-3.146000	0.00059	ACG		0.488	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	0	NM_005766		13:98896791
ZNRF3	84133	broad.mit.edu	37	22	29445400	29445400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:29445400C>T	ENST00000544604.2	+	8	1406	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	411					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTATTCCCCGCAGACCCCCGC	0.682																																						ENST00000544604.2		NA																	0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1231-1233)Cag>Tag		zinc and ring finger 3							36.0	44.0	41.0					22																	29445400		2147	4239	6386	SO:0001587	stop_gained	84133					integral to membrane	zinc ion binding	g.chr22:29445400C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1231C>T	22.37:g.29445400C>T	ENSP00000443824:p.Gln411*	False	False		Somatic	0				ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311*	p.Q411*	NM_001206998.1	NP_001193927.1	WXS	Illumina HiSeq	Phase_I	Q9ULT6	ZNRF3_HUMAN			8	1406	+			411					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Nonsense_Mutation	SNP	ENST00000544604.2	37	c.1231C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353092	0.95830	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	.	.	.	5.53	5.53	0.82687	.	0.307718	0.36932	N	0.002329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-2.0863	18.456	0.90721	0.0:1.0:0.0:0.0	.	.	.	.	X	411;311;118;311;311	.	ENSP00000328614:Q311X	Q	+	1	0	ZNRF3	27775400	1.000000	0.71417	0.851000	0.33527	0.570000	0.35934	5.647000	0.67923	2.593000	0.87608	0.655000	0.94253	CAG		0.682	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	0	XM_290972		22:29445400
TMEM45B	120224	broad.mit.edu	37	11	129722430	129722430	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:129722430G>A	ENST00000524567.1	+	2	334	c.53G>A	c.(52-54)gGg>gAg	p.G18E	TMEM45B_ENST00000281441.3_Missense_Mutation_p.G18E			Q96B21	TM45B_HUMAN	transmembrane protein 45B	18						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGATCATTGGGCTGTGTTGG	0.507																																						ENST00000281441.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(52-54)gGg>gAg		transmembrane protein 45B							124.0	109.0	115.0					11																	129722430		2201	4297	6498	SO:0001583	missense	120224					integral to membrane		g.chr11:129722430G>A	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.53G>A	11.37:g.129722430G>A	ENSP00000436293:p.Gly18Glu	True	False		Somatic	0				TMEM45B_ENST00000524567.1_Missense_Mutation_p.G18E	p.G18E	NM_138788.3	NP_620143.1	WXS	Illumina HiSeq	Phase_I	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	2	141	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	18					A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	c.53G>A	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632180	0.87660	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.61980	0.06;0.06	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86602	0.1867	10	0.87932	D	0	-16.7256	18.2812	0.90098	0.0:0.0:1.0:0.0	.	18	Q96B21	TM45B_HUMAN	E	18	ENSP00000281441:G18E;ENSP00000436293:G18E	ENSP00000281441:G18E	G	+	2	0	TMEM45B	129227640	1.000000	0.71417	0.823000	0.32752	0.573000	0.36030	9.317000	0.96327	2.653000	0.90120	0.655000	0.94253	GGG		0.507	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	0	NM_138788		11:129722430
SFRP4	6424	broad.mit.edu	37	7	37956044	37956044	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:37956044G>A	ENST00000436072.2	-	1	473	c.96C>T	c.(94-96)tgC>tgT	p.C32C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	32	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCATGTGCCGGCACATAGGGA	0.672																																						ENST00000436072.2		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(94-96)tgC>tgT		secreted frizzled-related protein 4							109.0	89.0	96.0					7																	37956044		2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956044G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.96C>T	7.37:g.37956044G>A		False	False		Somatic	0				EPDR1_ENST00000476620.1_Intron	p.C32C	NM_003014.3	NP_003005.2	WXS	Illumina HiSeq	Phase_I	Q6FHJ7	SFRP4_HUMAN			1	473	-			32			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.96C>T	CCDS5453.1																																																																																				0.672	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	0	NM_003014		7:37956044
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108.0	110.0	110.0					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val	False	False		Somatic	0					p.A304V	NM_002563.3	NP_002554.1	WXS	Illumina HiSeq	Phase_I	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	0	NM_002563		3:152554482
KCNJ12	3768	broad.mit.edu	37	17	21319451	21319451	+	Missense_Mutation	SNP	C	C	T	rs144590967		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:21319451C>T	ENST00000583088.1	+	3	1692	c.797C>T	c.(796-798)tCg>tTg	p.S266L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	266					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TTTCTGGTGTCGCCCATCACC	0.607										Prostate(3;0.18)			.|||	1	0.000199681	0.0	0.0	5008	,	,		40292	0.0		0.001	False		,,,				2504	0.0					ENST00000583088.1		NA																	0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(796-798)tCg>tTg		potassium inwardly-rectifying channel, subfamily J, member 12		C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	124.0	92.0	103.0		797	5.4	0.9	17	dbSNP_134	103	1,8599		0,1,4299	yes	missense	KCNJ12	NM_021012.4	145	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	266/434	21319451	3,13003	2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319451C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.797C>T	17.37:g.21319451C>T	ENSP00000463778:p.Ser266Leu	False	False	Prostate(3;0.18)	Somatic	0				KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L	p.S266L	NM_021012.4	NP_066292.2	WXS	Illumina HiSeq	Phase_I				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1692	+			NA					O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.797C>T	CCDS11219.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.4	4.736363	0.89482	4.54E-4	1.16E-4	ENSG00000184185	ENST00000331718	D	0.90385	-2.66	5.43	5.43	0.79202	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	L	0.45744	1.44	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.93754	0.7061	10	0.56958	D	0.05	.	19.2333	0.93849	0.0:1.0:0.0:0.0	.	266	Q14500	IRK12_HUMAN	L	266	ENSP00000328150:S266L	ENSP00000328150:S266L	S	+	2	0	KCNJ12	21260044	1.000000	0.71417	0.935000	0.37517	0.924000	0.55760	7.680000	0.84062	2.554000	0.86153	0.655000	0.94253	TCG		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	NM_021012		17:21319451
SLC22A17	51310	broad.mit.edu	37	14	23816760	23816760	+	Silent	SNP	G	G	A	rs369056418		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:23816760G>A	ENST00000206544.8	-	7	1461	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	SLC22A17_ENST00000397267.1_Silent_p.T375T|SLC22A17_ENST00000354772.3_Silent_p.T375T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Silent_p.T264T	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	375					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAGCAATGCCGGTAAGGGTCA	0.622																																						ENST00000354772.3		NA																	0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1123-1125)acC>acT		solute carrier family 22, member 17		G	,	0,4406		0,0,2203	53.0	54.0	54.0		1125,1125	-5.4	0.9	14		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC22A17	NM_016609.3,NM_020372.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	375/521,375/539	23816760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23816760G>A	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.1125C>T	14.37:g.23816760G>A		False	False		Somatic	0				SLC22A17_ENST00000206544.8_Silent_p.T375T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.T375T|SLC22A17_ENST00000397260.3_Silent_p.T264T	p.T375T	NM_016609.3	NP_057693.3	WXS	Illumina HiSeq	Phase_I	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	8	1628	-	all_cancers(95;7.12e-06)		375					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	c.1125C>T	CCDS9593.1																																																																																				0.622	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	0	NM_020372		14:23816760
HYDIN	54768	broad.mit.edu	37	16	71101253	71101253	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:71101253G>T	ENST00000393567.2	-	15	2165	c.2015C>A	c.(2014-2016)gCa>gAa	p.A672E	HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	672					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A672E(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCACGAGTGCCAGCTCGTA	0.532																																						ENST00000393567.2		NA																	3	Substitution - Missense(3)	p.A672E(3)	large_intestine(3)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(2014-2016)gCa>gAa		HYDIN, axonemal central pair apparatus protein							77.0	65.0	69.0					16																	71101253		2198	4300	6498	SO:0001583	missense	54768							g.chr16:71101253G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2015C>A	16.37:g.71101253G>T	ENSP00000377197:p.Ala672Glu	False	False		Somatic	0				HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E	p.A672E	NM_001270974.1	NP_001257903.1	WXS	Illumina HiSeq	Phase_I	Q4G0P3	HYDIN_HUMAN			15	2165	-		Ovarian(137;0.0654)	672					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.2015C>A	CCDS59269.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.09|16.09	3.024197|3.024197	0.54683|0.54683	.|.	.|.	ENSG00000157423|ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550|ENST00000542890	T;T;T;T;T;T;T;T|.	0.06371|.	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.32703|.	U|.	0.005751|.	T|T	0.67822|0.67822	0.2934|0.2934	L|L	0.48642|0.48642	1.525|1.525	0.47994|0.47994	D|D	0.99956|0.99956	P;P;B;P;D|.	0.89917|.	0.875;0.875;0.34;0.875;1.0|.	P;P;B;P;D|.	0.87578|.	0.729;0.729;0.108;0.547;0.998|.	T|T	0.65413|0.65413	-0.6174|-0.6174	10|5	0.06365|.	T|.	0.9|.	.|.	17.1332|17.1332	0.86732|0.86732	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	699;689;689;672;672|.	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23|.	.;.;.;.;.|.	E|N	672;672;672;672;672;699;689;689;687|74	ENSP00000377197:A672E;ENSP00000398544:A672E;ENSP00000394826:A672E;ENSP00000314736:A672E;ENSP00000444970:A699E;ENSP00000437341:A689E;ENSP00000288168:A689E;ENSP00000377181:A687E|.	ENSP00000288168:A689E|.	A|H	-|-	2|1	0|0	HYDIN|HYDIN	69658754|69658754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	6.181000|6.181000	0.71988|0.71988	2.332000|2.332000	0.79248|0.79248	0.603000|0.603000	0.83216|0.83216	GCA|CAC		0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0			16:71101253
THADA	63892	broad.mit.edu	37	2	43768407	43768407	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:43768407C>T	ENST00000405006.4	-	21	3506	c.3155G>A	c.(3154-3156)tGt>tAt	p.C1052Y	THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y|THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000330266.7_Missense_Mutation_p.C762Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1052										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTCCAACAACATACCAGCAC	0.413																																						ENST00000405006.4		NA																	0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(3154-3156)tGt>tAt		thyroid adenoma associated							242.0	242.0	242.0					2																	43768407		2018	4189	6207	SO:0001583	missense	63892						binding	g.chr2:43768407C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3155G>A	2.37:g.43768407C>T	ENSP00000385995:p.Cys1052Tyr	False	False		Somatic	0				THADA_ENST00000330266.7_Missense_Mutation_p.C762Y|THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y	p.C1052Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	WXS	Illumina HiSeq	Phase_I	Q6YHU6	THADA_HUMAN			21	3506	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1052					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.3155G>A	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.564569|3.564569	0.65651|0.65651	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66519|0.66519	0.2797|0.2797	L|L	0.39085|0.39085	1.19|1.19	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	0.998;1.0;0.997;1.0|.	D;D;D;D|.	0.91635|.	0.991;0.999;0.988;0.999|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.87932|.	D|.	0|.	.|.	19.7706|19.7706	0.96363|0.96363	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	762;1053;762;1052|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	Y|I	762;1052;1053;762;1052|366	ENSP00000331105:C762Y;ENSP00000386088:C1052Y;ENSP00000416048:C762Y;ENSP00000385995:C1052Y|.	ENSP00000331105:C762Y|.	C|V	-|-	2|1	0|0	THADA|THADA	43621911|43621911	1.000000|1.000000	0.71417|0.71417	0.869000|0.869000	0.34112|0.34112	0.998000|0.998000	0.95712|0.95712	6.179000|6.179000	0.71974|0.71974	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	TGT|GTT		0.413	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	0	NM_022065		2:43768407
CPAMD8	27151	broad.mit.edu	37	19	17057923	17057923	+	Missense_Mutation	SNP	C	C	T	rs199613595		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17057923C>T	ENST00000443236.1	-	21	2795	c.2764G>A	c.(2764-2766)Gtt>Att	p.V922I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	875						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGGACAGAACGACCCAGATG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19709	0.0		0.0	False		,,,				2504	0.0					ENST00000443236.1		NA																	0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2764-2766)Gtt>Att		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							112.0	113.0	113.0					19																	17057923		1990	4153	6143	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17057923C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2764G>A	19.37:g.17057923C>T	ENSP00000402505:p.Val922Ile	False	False		Somatic	0					p.V922I	NM_015692.2	NP_056507.2	WXS	Illumina HiSeq	Phase_I	Q8IZJ3	CPMD8_HUMAN			21	2795	-			875					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2764G>A	CCDS42519.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.25	1.582552	0.28180	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.46	1.2	0.21068	.	0.085942	0.47093	N	0.000245	T	0.26629	0.0651	L	0.48877	1.53	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.13124	-1.0521	9	0.17369	T	0.5	.	7.8366	0.29374	0.0:0.7433:0.1633:0.0935	.	875	Q8IZJ3	CPMD8_HUMAN	I	922	.	ENSP00000291440:V922I	V	-	1	0	CPAMD8	16918923	0.997000	0.39634	0.018000	0.16275	0.076000	0.17211	4.779000	0.62375	0.036000	0.15547	0.491000	0.48974	GTT		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	0	NM_015692		19:17057923
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
ROBO1	6091	broad.mit.edu	37	3	78666997	78666997	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666997G>T	ENST00000464233.1	-	27	4183	c.4070C>A	c.(4069-4071)tCc>tAc	p.S1357Y	ROBO1_ENST00000436010.2_Missense_Mutation_p.S1318Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCCAACACTGGAGGCAGGTGT	0.572																																						ENST00000436010.2		NA																	0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3952-3954)tCc>tAc		roundabout, axon guidance receptor, homolog 1 (Drosophila)							63.0	72.0	69.0					3																	78666997		2002	4167	6169	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78666997G>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4070C>A	3.37:g.78666997G>T	ENSP00000420321:p.Ser1357Tyr	False	False		Somatic	0				ROBO1_ENST00000464233.1_Missense_Mutation_p.S1357Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y	p.S1318Y			WXS	Illumina HiSeq	Phase_I	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	25	4950	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1357					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3953C>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730379	0.69074	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.72051	-0.4;-0.44;-0.47;-0.62	5.68	5.68	0.88126	.	0.101670	0.64402	D	0.000001	T	0.78375	0.4273	L	0.34521	1.04	0.80722	D	1	D;P;D;D;D	0.71674	0.997;0.956;0.998;0.988;0.996	D;P;D;P;P	0.80764	0.994;0.577;0.924;0.805;0.875	T	0.74836	-0.3529	9	.	.	.	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	1321;1357;1312;1257;1318	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	Y	1318;1312;1357;1312;1257;1361	ENSP00000406043:S1318Y;ENSP00000420321:S1357Y;ENSP00000420637:S1312Y;ENSP00000417992:S1257Y	.	S	-	2	0	ROBO1	78749687	1.000000	0.71417	0.992000	0.48379	0.310000	0.27922	9.813000	0.99286	2.838000	0.97847	0.591000	0.81541	TCC		0.572	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	0	NM_002941		3:78666997
SST	6750	broad.mit.edu	37	3	187387014	187387014	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:187387014C>T	ENST00000287641.3	-	2	297	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	64					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GCATCATTCTCCGTCTGGTTG	0.522																																						ENST00000287641.3		NA																	0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(190-192)Gag>Aag		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						243.0	224.0	230.0					3																	187387014		2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187387014C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.190G>A	3.37:g.187387014C>T	ENSP00000287641:p.Glu64Lys	False	False		Somatic	0					p.E64K	NM_001048.3	NP_001039.1	WXS	Illumina HiSeq	Phase_I	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	297	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		64					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.190G>A	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696829	0.68386	.	.	ENSG00000157005	ENST00000287641	T	0.38401	1.14	5.51	4.64	0.57946	.	0.045481	0.85682	D	0.000000	T	0.44746	0.1308	M	0.82323	2.585	0.52099	D	0.999948	P	0.46784	0.884	B	0.41466	0.358	T	0.55897	-0.8068	10	0.87932	D	0	-17.0825	13.4703	0.61278	0.0:0.9249:0.0:0.0751	.	64	P61278	SMS_HUMAN	K	64	ENSP00000287641:E64K	ENSP00000287641:E64K	E	-	1	0	SST	188869708	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	4.650000	0.61440	1.334000	0.45468	0.305000	0.20034	GAG		0.522	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	0	NM_001048		3:187387014
CYP2A7	1549	broad.mit.edu	37	19	41383142	41383142	+	Missense_Mutation	SNP	G	G	A	rs151290022		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:41383142G>A	ENST00000301146.4	-	7	1655	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	372						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTAACCCTGCGGGCCAAACTC	0.547																																						ENST00000301146.4		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1114-1116)Cgc>Tgc		cytochrome P450, family 2, subfamily A, polypeptide 7		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	90.0	94.0		1114,961	2.3	0.0	19	dbSNP_134	94	0,8598		0,0,4299	no	missense,missense	CYP2A7	NM_000764.2,NM_030589.2	180,180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	372/495,321/444	41383142	1,13003	2203	4299	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41383142G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1114C>T	19.37:g.41383142G>A	ENSP00000301146:p.Arg372Cys	True	False		Somatic	0				CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C|CTC-490E21.12_ENST00000601627.1_Intron	p.R372C	NM_000764.2	NP_000755.2	WXS	Illumina HiSeq	Phase_I	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1655	-			372					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.1114C>T	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813432	0.50527	2.27E-4	0.0	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.81078	-1.45;-1.45	2.29	2.29	0.28610	.	0.199062	0.42821	U	0.000649	D	0.90003	0.6879	M	0.89658	3.05	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.91635	0.996;0.88;0.999	T	0.81795	-0.0769	10	0.87932	D	0	.	11.6888	0.51503	0.0:0.0:1.0:0.0	.	372;321;372	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	C	372;321	ENSP00000301146:R372C;ENSP00000291764:R321C	ENSP00000291764:R321C	R	-	1	0	CYP2A7	46074982	0.722000	0.28017	0.002000	0.10522	0.219000	0.24729	4.340000	0.59328	1.280000	0.44463	0.184000	0.17185	CGC		0.547	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	0	NM_030589		19:41383142
SP140	11262	broad.mit.edu	37	2	231174695	231174695	+	Silent	SNP	C	C	T	rs186449912	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:231174695C>T	ENST00000392045.3	+	23	2229	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000350136.5_Silent_p.C574C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	705					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C705C(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTTCTGTTGCGACACTTGTT	0.512													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21260	0.0		0.0	False		,,,				2504	0.0					ENST00000392045.3		NA																	1	Substitution - coding silent(1)	p.C705C(1)	large_intestine(1)	NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(2113-2115)tgC>tgT		SP140 nuclear body protein		C		3,4367	4.2+/-10.8	0,3,2182	179.0	192.0	188.0		2115	-4.4	0.0	2		188	4,8584	3.7+/-12.6	0,4,4290	no	coding-synonymous	SP140	NM_007237.4		0,7,6472	TT,TC,CC		0.0466,0.0686,0.054		705/868	231174695	7,12951	2185	4294	6479	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231174695C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2115C>T	2.37:g.231174695C>T		False	False		Somatic	0				SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000350136.5_Silent_p.C574C	p.C705C	NM_007237.4	NP_009168.4	WXS	Illumina HiSeq	Phase_I	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	23	2229	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	705					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.2115C>T	CCDS42831.1																																																																																				0.512	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	0	NM_007237		2:231174695
GRIN2B	2904	broad.mit.edu	37	12	13716777	13716777	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:13716777A>T	ENST00000609686.1	-	13	3604	c.3395T>A	c.(3394-3396)tTc>tAc	p.F1132Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1132					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCCAGGTAGAAGTCCCGTAG	0.597																																						ENST00000279593.3		NA																	0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3394-3396)tTc>tAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						94.0	86.0	89.0					12																	13716777		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716777A>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3395T>A	12.37:g.13716777A>T	ENSP00000477455:p.Phe1132Tyr	False	False		Somatic	0					p.F1132Y	NM_000834.3	NP_000825.2	WXS	Illumina HiSeq	Phase_I	Q13224	NMDE2_HUMAN			13	3604	-			1132					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3395T>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671252	0.67814	.	.	ENSG00000150086	ENST00000279593	T	0.20463	2.07	5.52	5.52	0.82312	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.23619	-1.0183	10	0.35671	T	0.21	.	15.6766	0.77332	1.0:0.0:0.0:0.0	.	1132	Q13224	NMDE2_HUMAN	Y	1132	ENSP00000279593:F1132Y	ENSP00000279593:F1132Y	F	-	2	0	GRIN2B	13608044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.869000	0.92326	2.099000	0.63709	0.533000	0.62120	TTC		0.597	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	0			12:13716777
BTN2A2	10385	broad.mit.edu	37	6	26390289	26390289	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:26390289G>A	ENST00000356709.4	+	5	892	c.781G>A	c.(781-783)Gca>Aca	p.A261T	BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T|BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	261					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATCCTGACCGCATCTCCCTG	0.463																																						ENST00000356709.4		NA																	0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(781-783)Gca>Aca		butyrophilin, subfamily 2, member A2							155.0	146.0	149.0					6																	26390289		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26390289G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.781G>A	6.37:g.26390289G>A	ENSP00000349143:p.Ala261Thr	False	False		Somatic	0				BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T	p.A261T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	WXS	Illumina HiSeq	Phase_I	Q8WVV5	BT2A2_HUMAN			5	892	+			261					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.781G>A	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	4.517	0.095872	0.08681	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000482842;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	2.38	-4.76	0.03229	.	.	.	.	.	T	0.01870	0.0059	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B	0.25007	0.0;0.0;0.116;0.105;0.003;0.0;0.0	B;B;B;B;B;B;B	0.17433	0.0;0.0;0.015;0.018;0.001;0.0;0.0	T	0.40384	-0.9566	9	0.46703	T	0.11	.	5.0603	0.14553	0.248:0.0:0.4881:0.2639	.	51;51;167;145;261;145;261	B4DE97;E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;.;BT2A2_HUMAN	T	261;56;261;145;51;167;56;261;145	ENSP00000417472:A261T;ENSP00000418965:A56T;ENSP00000349143:A261T;ENSP00000337117:A145T;ENSP00000419451:A51T;ENSP00000394241:A167T;ENSP00000417676:A56T;ENSP00000399308:A261T;ENSP00000418176:A145T	ENSP00000337117:A145T	A	+	1	0	BTN2A2	26498268	0.006000	0.16342	0.000000	0.03702	0.059000	0.15707	-0.039000	0.12124	-2.050000	0.00905	-0.600000	0.04104	GCA		0.463	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1	0			6:26390289
TNXB	7148	broad.mit.edu	37	6	32017099	32017099	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:32017099G>A	ENST00000375244.3	-	28	9906	c.9705C>T	c.(9703-9705)taC>taT	p.Y3235Y	TNXB_ENST00000375247.2_Silent_p.Y3233Y			P22105	TENX_HUMAN	tenascin XB	3280	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGGAGGCCGTACAGATGCA	0.697																																						ENST00000375244.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9703-9705)taC>taT		tenascin XB							42.0	45.0	44.0					6																	32017099		1278	2541	3819	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017099G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9705C>T	6.37:g.32017099G>A		False	False		Somatic	0				TNXB_ENST00000375247.2_Silent_p.Y3233Y	p.Y3235Y			WXS	Illumina HiSeq	Phase_I	P22105	TENX_HUMAN			28	9906	-			3280			Fibronectin type-III 24.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9705C>T																																																																																					0.697	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	NM_019105		6:32017099
ARID1A	8289	broad.mit.edu	37	1	27101098	27101098	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:27101098C>T	ENST00000324856.7	+	18	4751	c.4380C>T	c.(4378-4380)ggC>ggT	p.G1460G	ARID1A_ENST00000374152.2_Silent_p.G1077G|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1460					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7		NA		Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4378-4380)ggC>ggT		AT rich interactive domain 1A (SWI-like)							69.0	73.0	71.0					1																	27101098		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101098C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4380C>T	1.37:g.27101098C>T		False	False		Somatic	0				ARID1A_ENST00000374152.2_Silent_p.G1077G|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	p.G1460G	NM_006015.4	NP_006006.3	WXS	Illumina HiSeq	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4751	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1460					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4380C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440456	0.12104	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.54	4.62	0.57501	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	4	.	.	.	-10.3623	11.4825	0.50333	0.1412:0.7231:0.1357:0.0	.	.	.	.	S	357	.	.	P	+	1	0	ARID1A	26973685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.537000	0.36083	1.558000	0.49541	0.650000	0.86243	CCG		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	0	NM_139135		1:27101098
PKLR	5313	broad.mit.edu	37	1	155262971	155262971	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155262971C>T	ENST00000342741.4	-	9	1471	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	PKLR_ENST00000392414.3_Missense_Mutation_p.G447D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	478	Allosteric activator binding.				ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCCTCACCGGCCAGTTGTGGT	0.607																																						ENST00000392414.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1339-1341)gGc>gAc		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						79.0	72.0	75.0					1																	155262971		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155262971C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1433G>A	1.37:g.155262971C>T	ENSP00000339933:p.Gly478Asp	False	False		Somatic	0				PKLR_ENST00000342741.4_Missense_Mutation_p.G478D	p.G447D	NM_181871.3	NP_870986.1	WXS	Illumina HiSeq	Phase_I	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		9	1453	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		478					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1340G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527546	0.85706	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99842	-7.1;-7.1	4.54	4.54	0.55810	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.98965	4.385	0.80722	D	1	P;P	0.42993	0.797;0.797	P;P	0.56474	0.799;0.799	D	0.95923	0.8932	10	0.87932	D	0	.	12.9735	0.58525	0.0:1.0:0.0:0.0	.	478;469	P30613;B1AVT1	KPYR_HUMAN;.	D	503;447;478;392	ENSP00000376214:G447D;ENSP00000339933:G478D	ENSP00000271946:G392D	G	-	2	0	PKLR	153529595	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.601000	0.82783	2.530000	0.85305	0.561000	0.74099	GGC		0.607	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	0	NM_000298		1:155262971
FUT9	10690	broad.mit.edu	37	6	96651947	96651947	+	Missense_Mutation	SNP	G	G	A	rs371644802		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:96651947G>A	ENST00000302103.5	+	3	1242	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	306					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAAGGAAGTCGACAAAAACAA	0.368													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18640	0.0		0.0	False		,,,				2504	0.0				Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5		NA																	0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(916-918)Gac>Aac		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)		G	ASN/ASP	0,4406		0,0,2203	82.0	82.0	82.0		916	5.5	1.0	6		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	FUT9	NM_006581.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	306/360	96651947	1,13005	2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651947G>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.916G>A	6.37:g.96651947G>A	ENSP00000302599:p.Asp306Asn	False	False		Somatic	0					p.D306N	NM_006581.3	NP_006572.2	WXS	Illumina HiSeq	Phase_I	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1242	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	306					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.916G>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466121	0.63625	0.0	1.16E-4	ENSG00000172461	ENST00000302103	T	0.29142	1.58	5.5	5.5	0.81552	.	0.045414	0.85682	D	0.000000	T	0.29423	0.0733	M	0.65975	2.015	0.58432	D	0.999995	P	0.47762	0.9	P	0.48304	0.573	T	0.08472	-1.0720	10	0.59425	D	0.04	-18.0675	11.7939	0.52088	0.0799:0.0:0.9201:0.0	.	306	Q9Y231	FUT9_HUMAN	N	306	ENSP00000302599:D306N	ENSP00000302599:D306N	D	+	1	0	FUT9	96758668	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.690000	0.84178	2.586000	0.87340	0.467000	0.42956	GAC		0.368	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	0	NM_006581		6:96651947
ROBO1	6091	broad.mit.edu	37	3	78666996	78666996	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666996G>A	ENST00000464233.1	-	27	4184	c.4071C>T	c.(4069-4071)tcC>tcT	p.S1357S	ROBO1_ENST00000436010.2_Silent_p.S1318S|ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000467549.1_Silent_p.S1257S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCCCAACACTGGAGGCAGGTG	0.572																																						ENST00000436010.2		NA																	0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3952-3954)tcC>tcT		roundabout, axon guidance receptor, homolog 1 (Drosophila)							63.0	72.0	69.0					3																	78666996		1999	4167	6166	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78666996G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4071C>T	3.37:g.78666996G>A		False	False		Somatic	0				ROBO1_ENST00000464233.1_Silent_p.S1357S|ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000467549.1_Silent_p.S1257S	p.S1318S			WXS	Illumina HiSeq	Phase_I	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	25	4951	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1357					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.3954C>T	CCDS54611.1																																																																																				0.572	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	0	NM_002941		3:78666996
TRPC4	7223	broad.mit.edu	37	13	38211315	38211315	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:38211315C>G	ENST00000379705.3	-	11	3516	c.2659G>C	c.(2659-2661)Gaa>Caa	p.E887Q	TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	887	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTCGAGATTCCAGTTGAATA	0.458																																						ENST00000379705.3		NA																	0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2659-2661)Gaa>Caa		transient receptor potential cation channel, subfamily C, member 4							97.0	91.0	93.0					13																	38211315		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211315C>G	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2659G>C	13.37:g.38211315C>G	ENSP00000369027:p.Glu887Gln	False	False		Somatic	0				TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q	p.E887Q			WXS	Illumina HiSeq	Phase_I	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3516	-			887			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2659G>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764029	0.69878	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.75938	-0.47;-0.47;-0.29;-0.29;-0.65;-0.63;-0.98;-0.65	5.3	5.3	0.74995	.	2.243490	0.01788	N	0.032140	T	0.81654	0.4868	N	0.19112	0.55	0.80722	D	1	B;D;P;B;D;B	0.69078	0.435;0.989;0.908;0.264;0.997;0.013	B;D;D;B;D;B	0.78314	0.093;0.979;0.922;0.082;0.991;0.005	T	0.67526	-0.5648	10	0.59425	D	0.04	-18.9881	14.8849	0.70560	0.0:0.8568:0.1431:0.0	.	746;738;892;714;803;887	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Q	887;892;714;714;746;803;738;746	ENSP00000369027:E887Q;ENSP00000369003:E892Q;ENSP00000342580:E714Q;ENSP00000369001:E714Q;ENSP00000348025:E746Q;ENSP00000351264:E803Q;ENSP00000368995:E738Q;ENSP00000414316:E746Q	ENSP00000342580:E714Q	E	-	1	0	TRPC4	37109315	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	4.328000	0.59253	2.618000	0.88619	0.563000	0.77884	GAA		0.458	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	0	NM_003306		13:38211315
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3		NA																	0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49.0	47.0	48.0					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser	True	False		Somatic	0				RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	WXS	Illumina HiSeq	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	NM_006047		20:34241168
OLIG3	167826	broad.mit.edu	37	6	137815036	137815036	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:137815036C>T	ENST00000367734.2	-	1	495	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	91	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTTGCGTTCGCGTCCGTTGAT	0.617																																						ENST00000367734.2		NA																	0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(271-273)cGc>cAc		oligodendrocyte transcription factor 3							133.0	100.0	112.0					6																	137815036		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815036C>T	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.272G>A	6.37:g.137815036C>T	ENSP00000356708:p.Arg91His	False	False		Somatic	0					p.R91H	NM_175747.2	NP_786923.1	WXS	Illumina HiSeq	Phase_I	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	495	-	Breast(32;0.165)|Colorectal(23;0.24)		91					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.272G>A	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044310	0.75732	.	.	ENSG00000177468	ENST00000367734	T	0.73789	-0.78	5.44	4.57	0.56435	Helix-loop-helix DNA-binding (5);	0.069292	0.53938	D	0.000052	D	0.88262	0.6389	H	0.96239	3.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.91956	0.5575	10	0.87932	D	0	-1.623	14.2214	0.65830	0.0:0.9275:0.0:0.0725	.	91	Q7RTU3	OLIG3_HUMAN	H	91	ENSP00000356708:R91H	ENSP00000356708:R91H	R	-	2	0	OLIG3	137856729	1.000000	0.71417	0.706000	0.30403	0.994000	0.84299	6.087000	0.71362	1.287000	0.44583	0.591000	0.81541	CGC		0.617	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	0	NM_175747		6:137815036
ARHGEF11	9826	broad.mit.edu	37	1	156926239	156926239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:156926239C>T	ENST00000361409.2	-	18	2266	c.1524G>A	c.(1522-1524)tgG>tgA	p.W508*	ARHGEF11_ENST00000368194.3_Nonsense_Mutation_p.W548*	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	508					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGAACGGTAGCCACTTGTCCT	0.552																																						ENST00000368194.3		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(1642-1644)tgG>tgA		Rho guanine nucleotide exchange factor (GEF) 11							170.0	153.0	159.0					1																	156926239		2203	4300	6503	SO:0001587	stop_gained	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156926239C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1524G>A	1.37:g.156926239C>T	ENSP00000354644:p.Trp508*	False	False		Somatic	0				ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.W508*	p.W548*	NM_198236.2	NP_937879.1	WXS	Illumina HiSeq	Phase_I	O15085	ARHGB_HUMAN			19	2683	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		508					D3DVD0|Q5VY40|Q6PFW2	Nonsense_Mutation	SNP	ENST00000361409.2	37	c.1644G>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	45	11.401996	0.99556	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	.	.	.	4.82	4.82	0.62117	.	0.131135	0.35739	N	0.003012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-11.8078	17.6896	0.88266	0.0:1.0:0.0:0.0	.	.	.	.	X	548;508	.	ENSP00000354644:W508X	W	-	3	0	ARHGEF11	155192863	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.463000	0.66712	2.502000	0.84385	0.585000	0.79938	TGG		0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	0	NM_198236		1:156926239
KBTBD8	84541	broad.mit.edu	37	3	67054666	67054666	+	Silent	SNP	C	C	T	rs183048924	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:67054666C>T	ENST00000417314.2	+	3	1324	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.C399C			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20296	0.001		0.0	False		,,,				2504	0.0					ENST00000295568.4		NA																	0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1195-1197)tgC>tgT		kelch repeat and BTB (POZ) domain containing 8							190.0	176.0	181.0					3																	67054666		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054666C>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1275C>T	3.37:g.67054666C>T		False	False		Somatic	0				KBTBD8_ENST00000417314.2_Silent_p.C425C|KBTBD8_ENST00000460576.1_Intron	p.C399C	NM_032505.2	NP_115894.2	WXS	Illumina HiSeq	Phase_I	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1328	+		Lung NSC(201;0.0765)	425					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.1197C>T	CCDS2906.2																																																																																				0.413	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	0	NM_032505		3:67054666
MUC5B	727897	broad.mit.edu	37	11	1264911	1264911	+	Silent	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:1264911T>C	ENST00000529681.1	+	31	6859	c.6801T>C	c.(6799-6801)tcT>tcC	p.S2267S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S2270S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2267	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S2267S(1)|p.S2270S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCCCTTCTCCAGGGACGA	0.677																																						ENST00000447027.1		NA																	2	Substitution - coding silent(2)	p.S2267S(1)|p.S2270S(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6808-6810)tcT>tcC		mucin 5B, oligomeric mucus/gel-forming							127.0	156.0	146.0					11																	1264911		2155	4230	6385	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264911T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6801T>C	11.37:g.1264911T>C		False	False		Somatic	0				RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.S2267S	p.S2270S			WXS	Illumina HiSeq	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6868	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2267			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.6810T>C	CCDS44515.2																																																																																				0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	0	XM_001126093		11:1264911
FAT3	120114	broad.mit.edu	37	11	92577374	92577374	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:92577374G>A	ENST00000298047.6	+	18	10858	c.10841G>A	c.(10840-10842)gGc>gAc	p.G3614D	FAT3_ENST00000409404.2_Missense_Mutation_p.G3614D|FAT3_ENST00000525166.1_Missense_Mutation_p.G3464D|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3614	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGACAGCGGCAAGTATGTC	0.498										TCGA Ovarian(4;0.039)																												ENST00000298047.6		NA																	0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10840-10842)gGc>gAc		FAT atypical cadherin 3							178.0	186.0	183.0					11																	92577374		2135	4258	6393	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577374G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10841G>A	11.37:g.92577374G>A	ENSP00000298047:p.Gly3614Asp	False	False	TCGA Ovarian(4;0.039)	Somatic	0				FAT3_ENST00000525166.1_Missense_Mutation_p.G3464D|FAT3_ENST00000409404.2_Missense_Mutation_p.G3614D	p.G3614D			WXS	Illumina HiSeq	Phase_I	Q8TDW7	FAT3_HUMAN			18	10858	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3614			Cadherin 33.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10841G>A		.	.	.	.	.	.	.	.	.	.	G	27.3	4.814470	0.90790	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.09445	2.98;2.98;2.98	5.82	5.82	0.92795	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.38295	0.1035	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.08269	-1.0730	9	0.87932	D	0	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	3614;3614	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	D	3614;3614;3464	ENSP00000298047:G3614D;ENSP00000387040:G3614D;ENSP00000432586:G3464D	ENSP00000298047:G3614D	G	+	2	0	FAT3	92217022	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.787000	0.99055	2.756000	0.94617	0.561000	0.74099	GGC		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001008781		11:92577374
MYLK	4638	broad.mit.edu	37	3	123419230	123419230	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123419230C>T	ENST00000475616.1	-	15	3084	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T|MYLK_ENST00000360772.3_Missense_Mutation_p.A1029T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T|MYLK_ENST00000346322.5_Missense_Mutation_p.A960T			Q15746	MYLK_HUMAN	myosin light chain kinase	1029	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGCTTGGCGTTGCCCACG	0.607																																						ENST00000360772.3		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3085-3087)Gcc>Acc		myosin light chain kinase							124.0	129.0	127.0					3																	123419230		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419230C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3085G>A	3.37:g.123419230C>T	ENSP00000418335:p.Ala1029Thr	False	False		Somatic	0				MYLK_ENST00000346322.5_Missense_Mutation_p.A960T|MYLK_ENST00000475616.1_Missense_Mutation_p.A1029T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T	p.A1029T			WXS	Illumina HiSeq	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3463	-		Lung NSC(201;0.0496)	1029			6 X 12 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3085G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	6.410	0.443824	0.12164	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.70869	-0.52;-0.45;-0.52;-0.49;-0.45	5.44	0.483	0.16820	.	.	.	.	.	T	0.67135	0.2861	M	0.75264	2.295	0.29840	N	0.829312	D;P;D;B;P;B	0.59767	0.986;0.951;0.978;0.021;0.955;0.011	P;B;P;B;B;B	0.48770	0.589;0.371;0.501;0.013;0.322;0.006	T	0.60016	-0.7345	9	0.20046	T	0.44	.	2.1129	0.03707	0.1236:0.4786:0.12:0.2778	.	1029;107;960;1029;960;1029	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	T	1029;1029;1029;960;1029	ENSP00000354004:A1029T;ENSP00000353452:A1029T;ENSP00000352088:A1029T;ENSP00000320622:A960T;ENSP00000418335:A1029T	ENSP00000320622:A960T	A	-	1	0	MYLK	124901920	0.022000	0.18835	0.020000	0.16555	0.051000	0.14879	0.057000	0.14279	-0.205000	0.10219	0.455000	0.32223	GCC		0.607	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	NM_053025		3:123419230
BCL11A	53335	broad.mit.edu	37	2	60688454	60688454	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:60688454G>A	ENST00000335712.6	-	4	1820	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.G531G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	531					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACGACCGCGCCCCGCGAGC	0.697			T	IGH@	B-CLL																																	ENST00000335712.6		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1591-1593)ggC>ggT		B-cell CLL/lymphoma 11A (zinc finger protein)							9.0	10.0	10.0					2																	60688454		2182	4231	6413	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688454G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1593C>T	2.37:g.60688454G>A		True	False		Somatic	0				BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000356842.4_Silent_p.G531G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G|BCL11A_ENST00000477659.1_5'UTR	p.G531G	NM_022893.3	NP_075044.2	WXS	Illumina HiSeq	Phase_I	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1820	-			531					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1593C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544002	0.04024	.	.	ENSG00000119866	ENST00000378117	.	.	.	4.08	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5491	0.27786	0.1139:0.0:0.8861:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCL11A	60541958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.605000	0.24179	1.307000	0.44944	0.650000	0.86243	.		0.697	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	0	NM_022893		2:60688454
SEPHS2	22928	broad.mit.edu	37	16	30456111	30456111	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:30456111G>A	ENST00000478753.2	-	1	1391	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	313					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATCTGTGGCCGCATGGGCATT	0.448																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2		NA																	0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(937-939)gCg>gTg		selenophosphate synthetase 2							98.0	91.0	93.0					16																	30456111		1944	4143	6087	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456111G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.938C>T	16.37:g.30456111G>A	ENSP00000418669:p.Ala313Val	False	False		Somatic	0				SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V	p.A313V			WXS	Illumina HiSeq	Phase_I	Q99611	SPS2_HUMAN			1	1391	-			313					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.938C>T		.	.	.	.	.	.	.	.	.	.	G	17.53	3.413384	0.62511	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.64991	-0.13;-0.13;-0.13	5.28	5.28	0.74379	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	H	0.94620	3.56	0.80722	D	1	P;P	0.49090	0.919;0.906	P;B	0.45343	0.477;0.2	D	0.84632	0.0690	10	0.87932	D	0	-10.0941	16.7892	0.85583	0.0:0.0:1.0:0.0	.	313;256	Q99611;F5H8F9	SPS2_HUMAN;.	V	313;256;264;313	ENSP00000418669:A313V;ENSP00000443601:A256V;ENSP00000426234:A313V	ENSP00000390233:A264V	A	-	2	0	SEPHS2	30363612	1.000000	0.71417	0.991000	0.47740	0.267000	0.26476	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GCG		0.448	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	0	NM_012248		16:30456111
ASH1L	55870	broad.mit.edu	37	1	155408246	155408246	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155408246A>G	ENST00000368346.3	-	5	6339	c.5700T>C	c.(5698-5700)gtT>gtC	p.V1900V	ASH1L_ENST00000392403.3_Silent_p.V1900V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1900					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACTCTGAACAACAGCCTCAA	0.453																																						ENST00000368346.3		NA																	0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5698-5700)gtT>gtC		ash1 (absent, small, or homeotic)-like (Drosophila)							118.0	108.0	112.0					1																	155408246		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408246A>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5700T>C	1.37:g.155408246A>G		False	False		Somatic	0				ASH1L_ENST00000392403.3_Silent_p.V1900V	p.V1900V			WXS	Illumina HiSeq	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	6339	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1900					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.5700T>C																																																																																					0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	NM_018489		1:155408246
PCDHGA10	56106	broad.mit.edu	37	5	140795043	140795043	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140795043G>A	ENST00000398610.2	+	1	2301	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	767					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGACTCGCGAAAGAGTC	0.562																																						ENST00000398610.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2299-2301)tcG>tcA									100.0	108.0	106.0					5																	140795043		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140795043G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2301G>A	5.37:g.140795043G>A		False	False		Somatic	0				PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.S767S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2301	+			NA					Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2301G>A	CCDS47292.1																																																																																				0.562	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	0	NM_018913		5:140795043
HOXA9	3205	broad.mit.edu	37	7	27203297	27203297	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:27203297C>G	ENST00000343483.6	-	2	816	c.744G>C	c.(742-744)agG>agC	p.R248S	HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R88S	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	248					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TCTTGACCTGCCTCTCGGTGA	0.483			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6		NA		Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(742-744)agG>agC		homeobox A9							137.0	137.0	137.0					7																	27203297		2203	4300	6503	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203297C>G		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.744G>C	7.37:g.27203297C>G	ENSP00000343619:p.Arg248Ser	False	False		Somatic	0				RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R88S|HOXA9_ENST00000396345.1_3'UTR|HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR	p.R248S	NM_152739.3	NP_689952.1	WXS	Illumina HiSeq	Phase_I	P31269	HXA9_HUMAN			2	816	-			248					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.744G>C	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876027	0.72180	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.96427	-4.01;-4.01	5.21	3.01	0.34805	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.96626	0.8899	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95419	0.8505	10	0.87932	D	0	.	4.5519	0.12116	0.0:0.5833:0.0:0.4167	.	248	P31269	HXA9_HUMAN	S	248;172;239;88	ENSP00000343619:R248S;ENSP00000421799:R88S	ENSP00000242050:R239S	R	-	3	2	RP1-170O19.20;HOXA9	27169822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.826000	0.48104	1.349000	0.45751	0.561000	0.74099	AGG		0.483	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2	0			7:27203297
IRS4	8471	broad.mit.edu	37	X	107976904	107976904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:107976904G>A	ENST00000372129.2	-	1	2747	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	891					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGAAAGTCGGTTAGGTCTC	0.443																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2671-2673)Cga>Tga		insulin receptor substrate 4							177.0	180.0	179.0					X																	107976904		2203	4300	6503	SO:0001587	stop_gained	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976904G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2671C>T	X.37:g.107976904G>A	ENSP00000361202:p.Arg891*	False	False		Somatic	0					p.R891*	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	2747	-			891						Nonsense_Mutation	SNP	ENST00000372129.2	37	c.2671C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715445	0.89112	.	.	ENSG00000133124	ENST00000372129	.	.	.	5.2	0.841	0.18918	.	1.187410	0.06301	N	0.701010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.1902	9.9723	0.41761	0.0:0.0905:0.3551:0.5544	.	.	.	.	X	891	.	ENSP00000361202:R891X	R	-	1	2	IRS4	107863560	0.027000	0.19231	0.001000	0.08648	0.010000	0.07245	0.452000	0.21795	0.138000	0.18790	-0.324000	0.08512	CGA		0.443	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107976904
NIP7	51388	broad.mit.edu	37	16	69373736	69373736	+	Missense_Mutation	SNP	C	C	T	rs561878471		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:69373736C>T	ENST00000254940.5	+	1	404	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	COG8_ENST00000562081.1_5'Flank|RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.R2W|COG8_ENST00000306875.4_5'Flank|NIP7_ENST00000569637.2_Missense_Mutation_p.R2W	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	2	N-terminal domain.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGAAAAATGCGGCCTTTGAC	0.592											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254940.5		NA																	0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(4-6)Cgg>Tgg		NIP7, nucleolar pre-rRNA processing protein							135.0	155.0	149.0					16																	69373736		2198	4300	6498	SO:0001583	missense	51388				ribosome assembly	nucleolus	protein binding|RNA binding	g.chr16:69373736C>T	AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.4C>T	16.37:g.69373736C>T	ENSP00000254940:p.Arg2Trp	False	False		Somatic	0	OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1114	RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.R2W|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_Missense_Mutation_p.R2W	p.R2W	NM_016101.4	NP_057185.1	WXS	Illumina HiSeq	Phase_I	Q9Y221	NIP7_HUMAN			1	404	+		Ovarian(137;0.101)	2					B2RD04|Q9NZZ0	Missense_Mutation	SNP	ENST00000254940.5	37	c.4C>T	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466306	0.43839	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.69	-0.394	0.12434	.	0.131434	0.53938	D	0.000048	D	0.84165	0.5412	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	D	0.86223	0.1632	9	0.87932	D	0	-3.7941	12.5225	0.56067	0.6287:0.272:0.0994:0.0	.	2;2	Q9Y221-2;Q9Y221	.;NIP7_HUMAN	W	2	.	ENSP00000254940:R2W	R	+	1	2	NIP7	67931237	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	0.740000	0.26188	0.012000	0.14892	0.456000	0.33151	CGG		0.592	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2	0	NM_016101		16:69373736
SYT9	143425	broad.mit.edu	37	11	7437383	7437383	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:7437383A>G	ENST00000318881.6	+	4	1392	c.1155A>G	c.(1153-1155)acA>acG	p.T385T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	385	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGACATAACAGGAGCATCAG	0.408																																						ENST00000318881.6		NA																	0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1153-1155)acA>acG		synaptotagmin IX							112.0	104.0	106.0					11																	7437383		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7437383A>G	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1155A>G	11.37:g.7437383A>G		False	False		Somatic	0					p.T385T	NM_175733.3	NP_783860.1	WXS	Illumina HiSeq	Phase_I	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	4	1392	+			385			C2 2.			Silent	SNP	ENST00000318881.6	37	c.1155A>G	CCDS7778.1																																																																																				0.408	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	0	NM_175733		11:7437383
ALB	213	broad.mit.edu	37	4	74275113	74275113	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:74275113C>T	ENST00000503124.1	+	3	281	c.74C>T	c.(73-75)gCc>gTc	p.A25V	ALB_ENST00000401494.3_Missense_Mutation_p.A60V|ALB_ENST00000415165.2_Intron|ALB_ENST00000295897.4_Missense_Mutation_p.A175V|ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACTTTTATGCCCCGGAACTC	0.353																																						ENST00000295897.4		NA																	0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(523-525)gCc>gTc		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						69.0	74.0	72.0					4																	74275113		2203	4299	6502	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74275113C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.74C>T	4.37:g.74275113C>T	ENSP00000421027:p.Ala25Val	True	False		Somatic	0				ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000401494.3_Missense_Mutation_p.A60V|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Missense_Mutation_p.A25V|ALB_ENST00000505649.1_3'UTR	p.A175V	NM_000477.5	NP_000468.1	WXS	Illumina HiSeq	Phase_I	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	613	+	Breast(15;0.00102)		175			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.524C>T		.	.	.	.	.	.	.	.	.	.	C	14.99	2.699939	0.48307	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.55	-0.616	0.11583	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.472937	0.21303	N	0.076761	T	0.82061	0.4955	M	0.68593	2.085	0.37386	D	0.912251	D;P;B;P	0.71674	0.998;0.914;0.39;0.726	D;B;B;B	0.67103	0.949;0.146;0.049;0.075	D	0.85061	0.0934	10	0.72032	D	0.01	-5.329	21.3573	0.99952	0.0:0.3196:0.6804:0.0	.	60;25;175;175	B7WNR0;D6RHD5;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	V	177;175;25;175;60;184	ENSP00000392541:A177V;ENSP00000295897:A175V;ENSP00000421027:A25V;ENSP00000422784:A175V;ENSP00000384695:A60V	ENSP00000295897:A175V	A	+	2	0	ALB	74493977	0.924000	0.31332	0.958000	0.39756	0.913000	0.54294	0.021000	0.13489	-0.357000	0.08175	-0.282000	0.10007	GCC		0.353	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	0	NM_000477		4:74275113
CHD7	55636	broad.mit.edu	37	8	61769311	61769311	+	Missense_Mutation	SNP	G	G	A	rs528722099		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:61769311G>A	ENST00000423902.2	+	34	7951	c.7472G>A	c.(7471-7473)cGc>cAc	p.R2491H	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2491			R -> C. {ECO:0000269|PubMed:22461308}.		adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCCTTTCGCGCACACCCACA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		21781	0.001		0.0	False		,,,				2504	0.0					ENST00000423902.2		NA																	0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(7471-7473)cGc>cAc		chromodomain helicase DNA binding protein 7							146.0	143.0	144.0					8																	61769311		1953	4152	6105	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61769311G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7472G>A	8.37:g.61769311G>A	ENSP00000392028:p.Arg2491His	False	False		Somatic	0				CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	p.R2491H	NM_017780.3	NP_060250.2	WXS	Illumina HiSeq	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		34	7951	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2491					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7472G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722658	0.30503	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.80123	-1.34	5.07	5.07	0.68467	.	0.070956	0.64402	D	0.000010	T	0.54351	0.1853	N	0.01168	-0.975	0.35619	D	0.809264	P	0.37708	0.606	B	0.32289	0.143	T	0.64765	-0.6330	10	0.15066	T	0.55	-12.8763	18.6309	0.91359	0.0:0.0:1.0:0.0	.	2491	Q9P2D1	CHD7_HUMAN	H	2491	ENSP00000392028:R2491H	ENSP00000307304:R2491H	R	+	2	0	CHD7	61931865	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.899000	0.63245	2.630000	0.89119	0.563000	0.77884	CGC		0.488	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	0	XM_098762		8:61769311
ADCY5	111	broad.mit.edu	37	3	123046467	123046467	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123046467G>A	ENST00000462833.1	-	7	3157	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W|ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	649					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCACAGACCCGCTTCTGGGTG	0.627																																						ENST00000462833.1		NA																	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1945-1947)Cgg>Tgg		adenylate cyclase 5							39.0	37.0	37.0					3																	123046467		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123046467G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1945C>T	3.37:g.123046467G>A	ENSP00000419361:p.Arg649Trp	True	False		Somatic	0				ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W|ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W	p.R649W	NM_183357.2	NP_899200.1	WXS	Illumina HiSeq	Phase_I	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	7	3157	-			649					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1945C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998117	0.74818	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;D;D;T	0.82526	-1.23;-1.62;-1.6;-1.49	5.2	4.27	0.50696	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.64402	D	0.000003	D	0.89434	0.6714	M	0.79123	2.44	0.80722	D	1	P;D	0.76494	0.837;0.999	B;P	0.61275	0.326;0.886	D	0.90581	0.4529	10	0.66056	D	0.02	.	15.0194	0.71617	0.0:0.0:0.7655:0.2345	.	649;282	O95622;B3KWA8	ADCY5_HUMAN;.	W	649;282;299;208	ENSP00000419361:R649W;ENSP00000418537:R282W;ENSP00000308685:R299W;ENSP00000420082:R208W	ENSP00000308685:R299W	R	-	1	2	ADCY5	124529157	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	1.013000	0.29937	2.578000	0.87016	0.655000	0.94253	CGG		0.627	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	0	XM_171048		3:123046467
NYNRIN	57523	broad.mit.edu	37	14	24886290	24886290	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24886290G>A	ENST00000382554.3	+	9	5653	c.5335G>A	c.(5335-5337)Gca>Aca	p.A1779T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1779					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GATGAGCAGCGCAAACATTGA	0.617																																						ENST00000382554.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(5335-5337)Gca>Aca		NYN domain and retroviral integrase containing							51.0	56.0	54.0					14																	24886290		2071	4207	6278	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886290G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5335G>A	14.37:g.24886290G>A	ENSP00000371994:p.Ala1779Thr	False	False		Somatic	0					p.A1779T	NM_025081.2	NP_079357.2	WXS	Illumina HiSeq	Phase_I	Q9P2P1	NYNRI_HUMAN			9	5653	+			1779					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.5335G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640226	0.67244	.	.	ENSG00000205978	ENST00000382554	T	0.10192	2.9	5.08	5.08	0.68730	.	.	.	.	.	T	0.20251	0.0487	N	0.24115	0.695	0.22842	N	0.998664	D	0.89917	1.0	D	0.76575	0.988	T	0.11036	-1.0604	9	0.46703	T	0.11	.	13.8328	0.63391	0.0:0.0:1.0:0.0	.	1779	Q9P2P1	NYNRI_HUMAN	T	1779	ENSP00000371994:A1779T	ENSP00000371994:A1779T	A	+	1	0	NYNRIN	23956130	0.890000	0.30428	0.748000	0.31131	0.644000	0.38419	1.278000	0.33179	2.640000	0.89533	0.655000	0.94253	GCA		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	0			14:24886290
CPAMD8	27151	broad.mit.edu	37	19	17010311	17010311	+	Missense_Mutation	SNP	C	C	T	rs202120343		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17010311C>T	ENST00000443236.1	-	37	4995	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1608						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGCACTCGGCGTCCAGCCAC	0.577																																						ENST00000443236.1		NA																	0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4963-4965)cGc>cAc		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C	HIS/ARG	1,4185		0,1,2092	61.0	69.0	66.0		4964	2.9	1.0	19		66	2,8430		0,2,4214	yes	missense	CPAMD8	NM_015692.2	29	0,3,6306	TT,TC,CC		0.0237,0.0239,0.0238	probably-damaging	1655/1933	17010311	3,12615	2093	4216	6309	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17010311C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4964G>A	19.37:g.17010311C>T	ENSP00000402505:p.Arg1655His	False	False		Somatic	0					p.R1655H	NM_015692.2	NP_056507.2	WXS	Illumina HiSeq	Phase_I	Q8IZJ3	CPMD8_HUMAN			37	4995	-			1608					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4964G>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.367865|4.367865	0.82463|0.82463	2.39E-4|2.39E-4	2.37E-4|2.37E-4	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.88|2.88	2.88|2.88	0.33553|0.33553	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000006	T|T	0.75547|0.75547	0.3864|0.3864	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.79198|0.79198	-0.1902|-0.1902	5|9	.|0.66056	.|D	.|0.02	.|.	14.1052|14.1052	0.65085|0.65085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1608	.|Q8IZJ3	.|CPMD8_HUMAN	T|H	1666|1655	.|.	.|ENSP00000291440:R1655H	A|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16871311|16871311	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	5.548000|5.548000	0.67255|0.67255	1.364000|1.364000	0.46038|0.46038	0.543000|0.543000	0.68304|0.68304	GCC|CGC		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	0	NM_015692		19:17010311
PTCH1	5727	broad.mit.edu	37	9	98244279	98244279	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:98244279T>C	ENST00000331920.6	-	5	997	c.698A>G	c.(697-699)gAc>gGc	p.D233G	PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000430669.2_Missense_Mutation_p.D167G|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	233					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGAAGCAGTCCAAAGGTGT	0.433																																						ENST00000430669.2		NA																	0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(499-501)gAc>gGc		patched 1							88.0	78.0	81.0					9																	98244279		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98244279T>C	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.698A>G	9.37:g.98244279T>C	ENSP00000332353:p.Asp233Gly	False	False		Somatic	0				PTCH1_ENST00000331920.6_Missense_Mutation_p.D233G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G|PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G	p.D167G			WXS	Illumina HiSeq	Phase_I	Q13635	PTC1_HUMAN			5	1085	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	233					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.500A>G	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172541	0.78452	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98958	-5.21;-5.13;-5.03;-5.03;-5.13;-5.03;-5.27;-3.3;-3.3;-3.3;-3.3;-3.67;-2.88	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99305	1.0902	10	0.72032	D	0.01	-38.4377	16.4608	0.84044	0.0:0.0:0.0:1.0	.	167;232;233	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	G	233;167;82;82;167;82;232;82;82;82;82;167;82	ENSP00000332353:D233G;ENSP00000389744:D167G;ENSP00000399981:D82G;ENSP00000396135:D82G;ENSP00000410287:D167G;ENSP00000414823:D82G;ENSP00000364423:D232G;ENSP00000447797:D82G;ENSP00000447008:D82G;ENSP00000447878:D82G;ENSP00000448843:D82G;ENSP00000449745:D167G;ENSP00000450131:D82G	ENSP00000332353:D233G	D	-	2	0	PTCH1	97284100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.288000	0.76882	0.533000	0.62120	GAC		0.433	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	0	NM_000264		9:98244279
UNC79	57578	broad.mit.edu	37	14	93954015	93954015	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:93954015C>T	ENST00000393151.2	+	5	626	c.626C>T	c.(625-627)tCc>tTc	p.S209F	UNC79_ENST00000256339.4_Missense_Mutation_p.S32F|UNC79_ENST00000553484.1_Missense_Mutation_p.S209F|UNC79_ENST00000555664.1_Missense_Mutation_p.S209F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	209					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAGTGGGCTCCTCAAGGAGA	0.403																																						ENST00000553484.1		NA																	0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(625-627)tCc>tTc		unc-79 homolog (C. elegans)							132.0	121.0	124.0					14																	93954015		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:93954015C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.626C>T	14.37:g.93954015C>T	ENSP00000376858:p.Ser209Phe	False	False		Somatic	0				UNC79_ENST00000555664.1_Missense_Mutation_p.S209F|UNC79_ENST00000256339.4_Missense_Mutation_p.S32F|UNC79_ENST00000393151.2_Missense_Mutation_p.S209F	p.S209F			WXS	Illumina HiSeq	Phase_I	Q9P2D8	UNC79_HUMAN			5	780	+			209					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.626C>T		.	.	.	.	.	.	.	.	.	.	C	19.75	3.885344	0.72410	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.49090	0.919;0.919	P;P	0.45712	0.491;0.491	T	0.01159	-1.1433	10	0.59425	D	0.04	-9.7376	19.2622	0.93973	0.0:1.0:0.0:0.0	.	209;209	C9JQL1;Q9P2D8	.;UNC79_HUMAN	F	32;209;209;209;209	ENSP00000256339:S32F;ENSP00000450868:S209F;ENSP00000451360:S209F;ENSP00000376858:S209F	ENSP00000256339:S32F	S	+	2	0	KIAA1409	93023768	1.000000	0.71417	0.981000	0.43875	0.592000	0.36648	7.541000	0.82084	2.564000	0.86499	0.591000	0.81541	TCC		0.403	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	0	XM_028395		14:93954015
SLC22A10	387775	broad.mit.edu	37	11	63057849	63057849	+	Missense_Mutation	SNP	C	C	T	rs537450056		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:63057849C>T	ENST00000332793.6	+	1	214	c.212C>T	c.(211-213)gCc>gTc	p.A71V	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	71						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	AGTGAAGATGCCCTCTTGAGA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18921	0.0		0.0	False		,,,				2504	0.001					ENST00000332793.6		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(211-213)gCc>gTc		solute carrier family 22, member 10							108.0	115.0	113.0					11																	63057849		2201	4298	6499	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63057849C>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.212C>T	11.37:g.63057849C>T	ENSP00000327569:p.Ala71Val	True	False		Somatic	0				SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	p.A71V	NM_001039752.3	NP_001034841.3	WXS	Illumina HiSeq	Phase_I	Q63ZE4	S22AA_HUMAN			1	214	+			71					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.212C>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	5.138	0.211114	0.09757	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.66815	2.48;-0.23	2.89	-0.723	0.11181	.	1.274800	0.05599	N	0.575951	T	0.53465	0.1798	L	0.41710	1.295	0.09310	N	1	B;B	0.19706	0.009;0.038	B;B	0.19946	0.012;0.027	T	0.29701	-1.0003	10	0.30078	T	0.28	.	4.2839	0.10846	0.4005:0.4704:0.0:0.1291	.	19;71	E9PJB1;Q63ZE4	.;S22AA_HUMAN	V	71;19	ENSP00000327569:A71V;ENSP00000433908:A19V	ENSP00000327569:A71V	A	+	2	0	SLC22A10	62814425	0.005000	0.15991	0.185000	0.23176	0.176000	0.22953	-0.169000	0.09911	-0.259000	0.09432	0.579000	0.79373	GCC		0.493	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	0	NM_001039752		11:63057849
SAMD14	201191	broad.mit.edu	37	17	48191617	48191617	+	Silent	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:48191617G>T	ENST00000330175.4	-	8	1193	c.876C>A	c.(874-876)ccC>ccA	p.P292P	SAMD14_ENST00000503131.1_Silent_p.P320P|SAMD14_ENST00000503734.1_5'Flank	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	292										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGGGCCCACTGGGGATCTTGG	0.597																																						ENST00000330175.4		NA																	0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(874-876)ccC>ccA		sterile alpha motif domain containing 14							53.0	52.0	53.0					17																	48191617		2203	4300	6503	SO:0001819	synonymous_variant	201191							g.chr17:48191617G>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.876C>A	17.37:g.48191617G>T		True	False		Somatic	0				SAMD14_ENST00000503131.1_Silent_p.P320P	p.P292P	NM_001257359.1	NP_001244288.1	WXS	Illumina HiSeq	Phase_I	Q8IZD0	SAM14_HUMAN			8	1193	-			292					A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	37	c.876C>A	CCDS58562.1																																																																																				0.597	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	0	NM_174920		17:48191617
GPR137	56834	broad.mit.edu	37	11	64054047	64054047	+	Silent	SNP	G	G	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:64054047G>C	ENST00000313074.3	+	1	156	c.51G>C	c.(49-51)gcG>gcC	p.A17A	BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Silent_p.A17A|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000411458.1_Silent_p.A75A|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000438980.2_Silent_p.A17A|GPR137_ENST00000539851.1_Silent_p.A17A	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	17						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGGTGCCTGCGCTGCCACCTG	0.632																																						ENST00000539851.1		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(49-51)gcG>gcC		G protein-coupled receptor 137							85.0	76.0	79.0					11																	64054047		2201	4297	6498	SO:0001819	synonymous_variant	56834					integral to membrane		g.chr11:64054047G>C	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.51G>C	11.37:g.64054047G>C		False	False		Somatic	0				GPR137_ENST00000313074.3_Silent_p.A17A|GPR137_ENST00000411458.1_Silent_p.A75A|GPR137_ENST00000438980.2_Silent_p.A17A|GPR137_ENST00000377702.4_Silent_p.A17A	p.A17A	NM_001177358.1	NP_001170829.1	WXS	Illumina HiSeq	Phase_I	Q96N19	G137A_HUMAN			2	518	+			17					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	37	c.51G>C	CCDS8066.1																																																																																				0.632	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	0	NM_020155		11:64054047
GPR123	84435	broad.mit.edu	37	10	134884542	134884542	+	Missense_Mutation	SNP	G	G	A	rs369673758		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:134884542G>A	ENST00000607359.1	+	1	110	c.110G>A	c.(109-111)cGg>cAg	p.R37Q				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	452					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGAGGGGGCCGGACACCACAG	0.657																																						ENST00000607359.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(109-111)cGg>cAg		G protein-coupled receptor 123		G		1,3123		0,1,1561	24.0	27.0	26.0			-3.1	0.0	10		26	0,7142		0,0,3571	no	intergenic				0,1,5132	AA,AG,GG		0.0,0.032,0.0097			134884542	1,10265	1562	3571	5133	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134884542G>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.110G>A	10.37:g.134884542G>A	ENSP00000475778:p.Arg37Gln	False	False		Somatic	0					p.R37Q			WXS	Illumina HiSeq	Phase_I	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	1	110	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000607359.1	37	c.110G>A		.	.	.	.	.	.	.	.	.	.	G	1.282	-0.610161	0.03690	3.2E-4	0.0	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.69	-3.13	0.05266	.	.	.	.	.	T	0.19644	0.0472	.	.	.	.	.	.	B	0.10296	0.003	B	0.01281	0.0	T	0.30794	-0.9966	6	0.87932	D	0	.	0.0954	0.00043	0.244:0.2044:0.2626:0.289	.	37	Q86SQ6-1	.	Q	37	.	ENSP00000357566:R37Q	R	+	2	0	GPR123	134734532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.884000	0.04166	-0.645000	0.05458	-0.657000	0.03884	CGG		0.657	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2	0			10:134884542
HTR2C	3358	broad.mit.edu	37	X	114141599	114141599	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:114141599T>A	ENST00000276198.1	+	6	1726	c.998T>A	c.(997-999)cTg>cAg	p.L333Q	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	333					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACCAATATTCTGTCTGTTCTT	0.383																																						ENST00000276198.1		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(997-999)cTg>cAg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						193.0	174.0	180.0					X																	114141599		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141599T>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.998T>A	X.37:g.114141599T>A	ENSP00000276198:p.Leu333Gln	True	False		Somatic	0				HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q	p.L333Q	NM_000868.2	NP_000859.1	WXS	Illumina HiSeq	Phase_I	P28335	5HT2C_HUMAN			6	1726	+			333					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.998T>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547060	0.45383	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.44482	0.92;0.92	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.389101	0.26089	N	0.026406	T	0.69904	0.3163	M	0.93720	3.45	0.80722	D	1	D	0.58620	0.983	D	0.63703	0.917	T	0.77851	-0.2434	10	0.72032	D	0.01	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	333	P28335	5HT2C_HUMAN	Q	333	ENSP00000276198:L333Q;ENSP00000361019:L333Q	ENSP00000276198:L333Q	L	+	2	0	HTR2C	114047855	1.000000	0.71417	0.996000	0.52242	0.595000	0.36748	5.039000	0.64185	1.827000	0.53221	0.381000	0.24937	CTG		0.383	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	0	NM_000868		X:114141599
PDE1C	5137	broad.mit.edu	37	7	32109952	32109952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:32109952G>T	ENST00000396191.1	-	1	509	c.54C>A	c.(52-54)taC>taA	p.Y18*	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396184.3_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18*	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	18					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCGGTTGCAGGTATTTCAGAG	0.502																																						ENST00000396184.3		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(52-54)taC>taA		phosphodiesterase 1C, calmodulin-dependent 70kDa							154.0	156.0	156.0					7																	32109952		2203	4300	6503	SO:0001587	stop_gained	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32109952G>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.54C>A	7.37:g.32109952G>T	ENSP00000379494:p.Tyr18*	False	False		Somatic	0				PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18*	p.Y18*	NM_005020.2	NP_005011.1	WXS	Illumina HiSeq	Phase_I	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		2	258	-			18					B3KPC6|E9PE92|Q14124|Q8NB10	Nonsense_Mutation	SNP	ENST00000396191.1	37	c.54C>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202601	0.97371	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7686	0.51945	0.0813:0.0:0.9187:0.0	.	.	.	.	X	18	.	ENSP00000318105:Y18X	Y	-	3	2	PDE1C	32076477	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.373000	0.66162	2.706000	0.92434	0.655000	0.94253	TAC		0.502	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1	0			7:32109952
ALDH1L2	160428	broad.mit.edu	37	12	105464556	105464556	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:105464556G>A	ENST00000258494.9	-	3	360	c.220C>T	c.(220-222)Cct>Tct	p.P74S	RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	74	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGAACACAGGGGTCCCATCT	0.413																																						ENST00000258494.9		NA																	0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(220-222)Cct>Tct		aldehyde dehydrogenase 1 family, member L2							128.0	110.0	116.0					12																	105464556		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105464556G>A	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.220C>T	12.37:g.105464556G>A	ENSP00000258494:p.Pro74Ser	True	False		Somatic	0				ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S	p.P74S	NM_001034173.3	NP_001029345.2	WXS	Illumina HiSeq	Phase_I	Q3SY69	AL1L2_HUMAN			3	360	-			74			GART.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.220C>T	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066278	0.93898	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.80738	-1.41;-1.41	5.48	5.48	0.80851	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	M	0.89287	3.02	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.92391	0.5921	10	0.87932	D	0	.	19.7157	0.96119	0.0:0.0:1.0:0.0	.	74	Q3SY69	AL1L2_HUMAN	S	74	ENSP00000258494:P74S;ENSP00000389608:P74S	ENSP00000258494:P74S	P	-	1	0	ALDH1L2	103988686	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.782000	0.85680	2.749000	0.94314	0.655000	0.94253	CCT		0.413	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	0	XM_090294		12:105464556
AGBL4	84871	broad.mit.edu	37	1	49511348	49511348	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:49511348G>A	ENST00000371839.1	-	5	618	c.502C>T	c.(502-504)Cca>Tca	p.P168S	RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S|AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	168					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TATGTATATGGGTAGCAGTAA	0.458																																						ENST00000371839.1		NA																	0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(502-504)Cca>Tca		ATP/GTP binding protein-like 4							121.0	106.0	110.0					1																	49511348		692	1591	2283	SO:0001583	missense	84871				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr1:49511348G>A	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.502C>T	1.37:g.49511348G>A	ENSP00000360905:p.Pro168Ser	True	False		Somatic	0				AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S|AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S	p.P168S	NM_032785.3	NP_116174.3	WXS	Illumina HiSeq	Phase_I	Q5VU57	CBPC6_HUMAN		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	5	618	-			168					B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	c.502C>T	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863043	0.91511	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836	T;T;T	0.29142	1.58;1.58;1.58	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.97611	4.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.82526	-0.0413	9	.	.	.	-8.6338	18.6038	0.91259	0.0:0.0:1.0:0.0	.	180;13;168	Q5VU57-2;B1AMW2;Q5VU57	.;.;CBPC6_HUMAN	S	168;162;168;168	ENSP00000360905:P168S;ENSP00000360904:P168S;ENSP00000360902:P168S	.	P	-	1	0	AGBL4	49283935	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.444000	0.97578	2.640000	0.89533	0.563000	0.77884	CCA		0.458	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	0	NM_032785		1:49511348
OR10X1	128367	broad.mit.edu	37	1	158548759	158548759	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158548759T>A	ENST00000368150.1	-	1	930	c.931A>T	c.(931-933)Aaa>Taa	p.K311*		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGCATTTTTCATGTCCTTA	0.438																																						ENST00000368150.1		NA																	0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(931-933)Aaa>Taa		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							124.0	130.0	128.0					1																	158548759		2203	4300	6503	SO:0001587	stop_gained	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548759T>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.931A>T	1.37:g.158548759T>A	ENSP00000357132:p.Lys311*	True	False		Somatic	0					p.K311*	NM_001004477.1	NP_001004477.1	WXS	Illumina HiSeq	Phase_I	Q8NGY0	O10X1_HUMAN			1	930	-	all_hematologic(112;0.0378)		311					Q6IFR8	Nonsense_Mutation	SNP	ENST00000368150.1	37	c.931A>T	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490702	0.44249	.	.	ENSG00000186400	ENST00000368150	.	.	.	4.5	3.29	0.37713	.	0.000000	0.51477	D	0.000097	.	.	.	.	.	.	0.46458	D	0.99905	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3298	0.38014	0.0:0.0:0.1795:0.8205	.	.	.	.	X	311	.	ENSP00000357132:K311X	K	-	1	0	OR10X1	156815383	0.876000	0.30132	0.997000	0.53966	0.423000	0.31445	2.291000	0.43540	2.001000	0.58596	0.460000	0.39030	AAA		0.438	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	0	NM_001004477		1:158548759
OR11H12	440153	broad.mit.edu	37	14	19377838	19377838	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:19377838C>A	ENST00000550708.1	+	1	317	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S82F(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAATTTCTCCTTTTTAGAG	0.423																																						ENST00000550708.1		NA																	1	Substitution - Missense(1)	p.S82F(1)	large_intestine(1)	NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(244-246)tCc>tAc		olfactory receptor, family 11, subfamily H, member 12							41.0	50.0	47.0					14																	19377838		1971	4084	6055	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377838C>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.245C>A	14.37:g.19377838C>A	ENSP00000449002:p.Ser82Tyr	False	False		Somatic	0					p.S82Y	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	WXS	Illumina HiSeq	Phase_I	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	317	+	all_cancers(95;0.00108)		82						Missense_Mutation	SNP	ENST00000550708.1	37	c.245C>A	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.243398	0.22796	.	.	ENSG00000257115	ENST00000550708	T	0.12361	2.69	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.171384	0.27447	N	0.019339	T	0.48572	0.1507	H	0.98936	4.375	0.24804	N	0.992688	D	0.89917	1.0	D	0.83275	0.996	T	0.63541	-0.6614	9	0.87932	D	0	.	7.1009	0.25336	0.0:0.9999:0.0:1.0E-4	.	82	B2RN74	O11HC_HUMAN	Y	82	ENSP00000449002:S82Y	ENSP00000449002:S82Y	S	+	2	0	CR383656.1	18447838	0.178000	0.23122	0.997000	0.53966	0.280000	0.26924	1.272000	0.33109	0.619000	0.30197	0.064000	0.15345	TCC		0.423	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	0	NM_001013354		14:19377838
CFL2	1073	broad.mit.edu	37	14	35182567	35182567	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:35182567G>A	ENST00000341223.3	-	2	355	c.204C>T	c.(202-204)taC>taT	p.Y68Y	CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y|CFL2_ENST00000556161.1_Silent_p.Y51Y	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	68	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CAAAAGATGTGTAGGGGTCCT	0.398																																						ENST00000341223.3		NA																	0				breast(3)|endometrium(2)|lung(3)	8						c.(202-204)taC>taT		cofilin 2 (muscle)							134.0	126.0	129.0					14																	35182567		2203	4300	6503	SO:0001819	synonymous_variant	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182567G>A	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"""nemaline myopathy type 7"""	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.204C>T	14.37:g.35182567G>A		False	False		Somatic	0				CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y	p.Y68Y	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	WXS	Illumina HiSeq	Phase_I	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	2	355	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		68			ADF-H.		G3V5P4	Silent	SNP	ENST00000341223.3	37	c.204C>T	CCDS9650.1																																																																																				0.398	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	0	NM_138638		14:35182567
GRIK3	2899	broad.mit.edu	37	1	37346245	37346245	+	Silent	SNP	G	G	A	rs377438243		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:37346245G>A	ENST00000373091.3	-	3	556	c.540C>T	c.(538-540)gaC>gaT	p.D180D	GRIK3_ENST00000373093.4_Silent_p.D180D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	180					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.D180D(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CTGTACTGTCGTCATAGACCA	0.612																																						ENST00000373091.3		NA																	2	Substitution - coding silent(2)	p.D180D(2)	large_intestine(2)	breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(538-540)gaC>gaT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						259.0	247.0	251.0					1																	37346245		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346245G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.540C>T	1.37:g.37346245G>A		False	False		Somatic	0				GRIK3_ENST00000373093.4_Silent_p.D180D	p.D180D	NM_000831.3	NP_000822.2	WXS	Illumina HiSeq	Phase_I	Q13003	GRIK3_HUMAN			3	556	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	180					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.540C>T	CCDS416.1																																																																																				0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	0	NM_000831		1:37346245
HCLS1	3059	broad.mit.edu	37	3	121354642	121354642	+	Missense_Mutation	SNP	C	C	T	rs202020296	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121354642C>T	ENST00000314583.3	-	9	722	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	211					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCATTGAAGCCGACAGCGCTC	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		17939	0.0		0.002	False		,,,				2504	0.0					ENST00000314583.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(631-633)Ggc>Agc		hematopoietic cell-specific Lyn substrate 1		C	SER/GLY	0,4406		0,0,2203	86.0	88.0	87.0		631	3.0	1.0	3		87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HCLS1	NM_005335.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	211/487	121354642	1,13005	2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121354642C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.631G>A	3.37:g.121354642C>T	ENSP00000320176:p.Gly211Ser	False	False		Somatic	0				HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S	p.G211S	NM_005335.4	NP_005326.2	WXS	Illumina HiSeq	Phase_I	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	9	722	-			211					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.631G>A	CCDS3003.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	13.00	2.107767	0.37242	0.0	1.16E-4	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.25414	1.91;1.8	4.76	2.96	0.34315	.	0.252518	0.45606	N	0.000346	T	0.24236	0.0587	L	0.35542	1.07	0.53688	D	0.999973	P;D	0.56746	0.952;0.977	B;P	0.48952	0.334;0.596	T	0.02632	-1.1131	10	0.72032	D	0.01	-9.5433	9.1271	0.36821	0.0:0.8154:0.0:0.1846	.	174;211	E7EVW7;P14317	.;HCLS1_HUMAN	S	211;174	ENSP00000320176:G211S;ENSP00000387645:G174S	ENSP00000320176:G211S	G	-	1	0	HCLS1	122837332	0.914000	0.31030	0.979000	0.43373	0.580000	0.36256	1.597000	0.36729	1.357000	0.45904	-0.150000	0.13652	GGC		0.557	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	0	NM_005335		3:121354642
L3MBTL4	91133	broad.mit.edu	37	18	5969486	5969486	+	Missense_Mutation	SNP	C	C	T	rs370465816		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:5969486C>T	ENST00000284898.6	-	18	1747	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	516					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGGAAGGTCCCGAAAAGGGTG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17990	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000284898.6		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1546-1548)cGg>cAg		l(3)mbt-like 4 (Drosophila)		C	GLN/ARG	1,4223		0,1,2111	70.0	79.0	76.0		1547	2.8	0.5	18		76	0,8458		0,0,4229	no	missense	L3MBTL4	NM_173464.3	43	0,1,6340	TT,TC,CC		0.0,0.0237,0.0079	probably-damaging	516/624	5969486	1,12681	2112	4229	6341	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5969486C>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1547G>A	18.37:g.5969486C>T	ENSP00000284898:p.Arg516Gln	True	False		Somatic	0				L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q	p.R516Q	NM_173464.3	NP_775735.2	WXS	Illumina HiSeq	Phase_I	Q8NA19	LMBL4_HUMAN			18	1747	-		Colorectal(10;0.0249)	516					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1547G>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479138	0.63849	2.37E-4	0.0	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.15718	2.4;2.49;2.4;2.49	5.53	2.8	0.32819	.	0.165870	0.39985	N	0.001214	T	0.31263	0.0791	M	0.66939	2.045	0.31034	N	0.717072	D;D	0.76494	0.989;0.999	P;D	0.67382	0.772;0.951	T	0.22312	-1.0220	10	0.20519	T	0.43	.	8.205	0.31449	0.0:0.77:0.0:0.23	.	516;507	Q8NA19;F8W9S8	LMBL4_HUMAN;.	Q	516;507;516;320	ENSP00000382976:R516Q;ENSP00000318543:R507Q;ENSP00000284898:R516Q;ENSP00000444774:R320Q	ENSP00000284898:R516Q	R	-	2	0	L3MBTL4	5959486	0.001000	0.12720	0.480000	0.27341	0.672000	0.39443	0.433000	0.21477	0.301000	0.22738	0.655000	0.94253	CGG		0.607	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	0	NM_173464		18:5969486
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATATGGGCCGCACAAGTTTT	0.423																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2		NA																	0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(253-255)cGc>cAc		CD86 molecule	Abatacept(DB01281)						143.0	142.0	142.0					3																	121822548		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822548G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.254G>A	3.37:g.121822548G>A	ENSP00000332049:p.Arg85His	False	False		Somatic	0				CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	p.R85H	NM_175862.4	NP_787058.4	WXS	Illumina HiSeq	Phase_I	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	370	+			85			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.254G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	0	NM_006889		3:121822548
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						ENST00000390551.2		NA																	0					NA															44.0	41.0	42.0					14																	106237582		1903	4068	5971			0							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	160	-			NA					A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	0	NG_001019		14:106237582
SRPRB	58477	broad.mit.edu	37	3	133535748	133535748	+	Missense_Mutation	SNP	T	T	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:133535748T>G	ENST00000466490.2	+	7	859	c.574T>G	c.(574-576)Tta>Gta	p.L192V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	192					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ATCAGCAAAGTTAATTCAACA	0.348																																						ENST00000466490.2		NA																	0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(574-576)Tta>Gta		signal recognition particle receptor, B subunit							99.0	104.0	102.0					3																	133535748		2203	4299	6502	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133535748T>G	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.574T>G	3.37:g.133535748T>G	ENSP00000418401:p.Leu192Val	False	False		Somatic	0					p.L192V	NM_021203.3	NP_067026.3	WXS	Illumina HiSeq	Phase_I	Q9Y5M8	SRPRB_HUMAN			7	859	+			192					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.574T>G	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	2.622	-0.288295	0.05605	.	.	ENSG00000144867	ENST00000466490	T	0.15487	2.42	5.48	1.59	0.23543	.	0.156463	0.41605	D	0.000858	T	0.07548	0.0190	N	0.21373	0.66	0.43091	D	0.994765	B	0.21452	0.056	B	0.25884	0.064	T	0.28933	-1.0028	10	0.02654	T	1	-8.2866	3.628	0.08120	0.1767:0.3842:0.0:0.4392	.	192	Q9Y5M8	SRPRB_HUMAN	V	192	ENSP00000418401:L192V	ENSP00000418401:L192V	L	+	1	2	SRPRB	135018438	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	0.797000	0.26999	0.389000	0.25086	-0.256000	0.11100	TTA		0.348	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2	0			3:133535748
GBA	2629	broad.mit.edu	37	1	155210490	155210490	+	Missense_Mutation	SNP	T	T	C	rs1141804		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210490T>C	ENST00000327247.5	-	3	278	c.46A>G	c.(46-48)Agt>Ggt	p.S16G	GBA_ENST00000536770.1_Missense_Mutation_p.S16G|GBA_ENST00000368373.3_Missense_Mutation_p.S16G|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.3_Intron|GBA_ENST00000427500.3_Missense_Mutation_p.S16G	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	16					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	CTTACCCTACTCAAAGGCTTG	0.547									Gaucher disease type I																													ENST00000327247.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26						c.(46-48)Agt>Ggt		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						164.0	152.0	156.0					1																	155210490		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155210490T>C	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.46A>G	1.37:g.155210490T>C	ENSP00000314508:p.Ser16Gly	False	False		Somatic	0				GBA_ENST00000368373.3_Missense_Mutation_p.S16G|GBA_ENST00000427500.2_Missense_Mutation_p.S16G|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000536770.1_Missense_Mutation_p.S16G|GBA_ENST00000428024.2_Intron	p.S16G	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	WXS	Illumina HiSeq	Phase_I	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	278	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		16					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.46A>G	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	0.922	-0.715410	0.03206	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928	D;D;D;D	0.99239	-5.52;-5.61;-5.61;-5.61	3.32	0.256	0.15567	.	0.478549	0.15720	N	0.247929	D	0.85605	0.5735	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.84644	0.0697	10	0.02654	T	1	.	6.3179	0.21200	0.0:0.4975:0.0:0.5025	rs1141804;rs3205613;rs17405269	16;16;16	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	G	16	ENSP00000402577:S16G;ENSP00000357357:S16G;ENSP00000314508:S16G;ENSP00000445560:S16G	ENSP00000314508:S16G	S	-	1	0	GBA	153477114	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.049000	0.11924	-0.301000	0.08882	-0.930000	0.02707	AGT		0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	0	NM_000157		1:155210490
ZCCHC9	84240	broad.mit.edu	37	5	80608439	80608439	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:80608439G>A	ENST00000254037.2	+	5	3929	c.774G>A	c.(772-774)ccG>ccA	p.P258P	ZCCHC9_ENST00000438268.2_Silent_p.P258P|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000407610.3_Silent_p.P258P|ZCCHC9_ENST00000380199.5_Silent_p.P258P			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	258					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P258P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TACCTAAACCGCAAAAACCCA	0.388																																						ENST00000254037.2		NA																	2	Substitution - coding silent(2)	p.P258P(2)	large_intestine(1)|lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(772-774)ccG>ccA		zinc finger, CCHC domain containing 9							96.0	91.0	92.0					5																	80608439		2203	4300	6503	SO:0001819	synonymous_variant	84240						nucleic acid binding|zinc ion binding	g.chr5:80608439G>A	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.774G>A	5.37:g.80608439G>A		False	False		Somatic	0				ZCCHC9_ENST00000407610.3_Silent_p.P258P|ZCCHC9_ENST00000380199.5_Silent_p.P258P|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Silent_p.P258P	p.P258P			WXS	Illumina HiSeq	Phase_I	Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	5	3929	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	258					B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	37	c.774G>A	CCDS4054.1																																																																																				0.388	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	0	NM_032280		5:80608439
ZFP36L1	677	broad.mit.edu	37	14	69256429	69256429	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:69256429G>A	ENST00000439696.2	-	2	1139	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	280					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GACATGGGCCGGAAGAGGAAG	0.632											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2		NA																	0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(838-840)Cgg>Tgg		ZFP36 ring finger protein-like 1							53.0	64.0	60.0					14																	69256429		2203	4300	6503	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256429G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.838C>T	14.37:g.69256429G>A	ENSP00000388402:p.Arg280Trp	False	False		Somatic	0	OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W	p.R280W	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	WXS	Illumina HiSeq	Phase_I	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1139	-			280					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.838C>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065008	0.55432	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.36157	1.27;1.27	4.38	2.55	0.30701	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.38045	-0.9679	10	0.39692	T	0.17	-6.8806	5.803	0.18424	0.1757:0.0:0.6325:0.1918	.	280	Q07352	TISB_HUMAN	W	280;280;263	ENSP00000388402:R280W;ENSP00000337386:R280W	ENSP00000337386:R280W	R	-	1	2	ZFP36L1	68326182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.012000	0.49575	0.487000	0.27698	0.591000	0.81541	CGG		0.632	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1	0			14:69256429
TCF20	6942	broad.mit.edu	37	22	42609709	42609709	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:42609709G>A	ENST00000359486.3	-	1	1739	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTAGTTGCCGCACTCTCTCG	0.557																																						ENST00000359486.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1603-1605)Cgg>Tgg		transcription factor 20 (AR1)							138.0	140.0	139.0					22																	42609709		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609709G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1603C>T	22.37:g.42609709G>A	ENSP00000352463:p.Arg535Trp	False	False		Somatic	0				TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	p.R535W	NM_005650.1	NP_005641.1	WXS	Illumina HiSeq	Phase_I	Q9UGU0	TCF20_HUMAN			1	1739	-			535					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1603C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657916	0.47467	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.38401	1.14;1.14	6.17	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.38200	-0.9672	10	0.56958	D	0.05	-23.6904	13.0614	0.59010	0.0:0.0:0.2872:0.7128	.	535;535	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	W	535	ENSP00000352463:R535W;ENSP00000335561:R535W	ENSP00000335561:R535W	R	-	1	2	TCF20	40939653	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.364000	0.44187	0.574000	0.29417	0.655000	0.94253	CGG		0.557	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	0	NM_181492		22:42609709
ETV3L	440695	broad.mit.edu	37	1	157068573	157068573	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068573C>T	ENST00000454449.2	-	3	695	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	137					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGGGGATGGCGGCGCCCGCA	0.592																																						ENST00000454449.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(409-411)ccG>ccA		ets variant 3-like							62.0	68.0	66.0					1																	157068573		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068573C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.411G>A	1.37:g.157068573C>T		False	False		Somatic	0					p.P137P	NM_001004341.2	NP_001004341.1	WXS	Illumina HiSeq	Phase_I	Q6ZN32	ETV3L_HUMAN			3	695	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	137						Silent	SNP	ENST00000454449.2	37	c.411G>A	CCDS30893.1																																																																																				0.592	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	0	NM_001004341		1:157068573
GPAM	57678	broad.mit.edu	37	10	113932067	113932067	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:113932067G>A	ENST00000348367.4	-	9	864	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	GPAM_ENST00000423155.1_Missense_Mutation_p.P223S|GPAM_ENST00000369425.1_Missense_Mutation_p.P223S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	223					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AACAGAAGCGGCAAATTCGTC	0.383																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(667-669)Ccg>Tcg		glycerol-3-phosphate acyltransferase, mitochondrial							100.0	99.0	99.0					10																	113932067		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113932067G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.667C>T	10.37:g.113932067G>A	ENSP00000265276:p.Pro223Ser	False	False		Somatic	0				GPAM_ENST00000369425.1_Missense_Mutation_p.P223S|GPAM_ENST00000423155.1_Missense_Mutation_p.P223S	p.P223S			WXS	Illumina HiSeq	Phase_I	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	9	864	-			223					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.667C>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994071	0.93167	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93811	-3.29;-3.29;-3.29	5.77	5.77	0.91146	Phospholipid/glycerol acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93359	0.6725	10	0.27785	T	0.31	-20.7866	18.2424	0.89971	0.0:0.0:1.0:0.0	.	223;223	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	S	223	ENSP00000265276:P223S;ENSP00000409242:P223S;ENSP00000358433:P223S	ENSP00000265276:P223S	P	-	1	0	GPAM	113922057	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.414000	0.97362	2.730000	0.93505	0.650000	0.86243	CCG		0.383	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	0	NM_020918		10:113932067
CD97	976	broad.mit.edu	37	19	14499539	14499539	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:14499539C>T	ENST00000242786.5	+	3	179	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.N33N|CD97_ENST00000358600.3_Silent_p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	33	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCCTCAGAACTCCTCGTGTG	0.587																																						ENST00000242786.5		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(97-99)aaC>aaT		CD97 molecule							131.0	134.0	133.0					19																	14499539		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14499539C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.99C>T	19.37:g.14499539C>T		False	False		Somatic	0				CD97_ENST00000358600.3_Silent_p.N33N|CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.N33N	p.N33N	NM_078481.3	NP_510966.1	WXS	Illumina HiSeq	Phase_I	P48960	CD97_HUMAN			3	179	+			33			EGF-like 1.		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.99C>T	CCDS32929.1																																																																																				0.587	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	0	NM_078481		19:14499539
SNCAIP	9627	broad.mit.edu	37	5	121776408	121776408	+	Missense_Mutation	SNP	G	G	A	rs185518611		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:121776408G>A	ENST00000261368.8	+	7	1643	c.1381G>A	c.(1381-1383)Gtt>Att	p.V461I	CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.V508I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	461					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAACAGTGCCGTTCACGTAGC	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18793	0.0		0.0	False		,,,				2504	0.0					ENST00000261367.7		NA																	0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1522-1524)Gtt>Att		synuclein, alpha interacting protein							149.0	141.0	143.0					5																	121776408		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121776408G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1381G>A	5.37:g.121776408G>A	ENSP00000261368:p.Val461Ile	False	False		Somatic	0				CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.V461I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA	p.V508I			WXS	Illumina HiSeq	Phase_I	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	9	2950	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	461					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1522G>A	CCDS4131.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.95	2.689844	0.48097	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854;ENST00000503116	T;T;T;T;T;T;T;T;T	0.63913	-0.03;0.71;0.71;0.71;0.71;1.48;0.71;1.48;-0.07	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.124143	0.53938	D	0.000052	T	0.66479	0.2793	N	0.13327	0.33	0.54753	D	0.999981	B;P;P;P;D;B;D;P;D	0.89917	0.381;0.947;0.924;0.853;0.999;0.236;1.0;0.953;1.0	B;P;B;B;D;B;D;B;D	0.70487	0.117;0.5;0.32;0.444;0.917;0.016;0.947;0.382;0.969	T	0.71031	-0.4710	10	0.54805	T	0.06	-17.0364	18.9919	0.92796	0.0:0.0:1.0:0.0	.	401;89;63;508;401;95;95;508;461	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-6;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;.;SNCAP_HUMAN	I	19;401;461;508;401;95;508;63;101;508	ENSP00000441681:V19I;ENSP00000422106:V401I;ENSP00000261368:V461I;ENSP00000368848:V508I;ENSP00000368851:V401I;ENSP00000368854:V95I;ENSP00000261367:V508I;ENSP00000394392:V63I;ENSP00000423199:V508I	ENSP00000261367:V508I	V	+	1	0	SNCAIP	121804307	1.000000	0.71417	0.159000	0.22649	0.060000	0.15804	9.178000	0.94855	2.721000	0.93114	0.655000	0.94253	GTT		0.428	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	0			5:121776408
OR5L1	219437	broad.mit.edu	37	11	55579771	55579771	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:55579771T>A	ENST00000333973.2	+	1	918	c.829T>A	c.(829-831)Ttc>Atc	p.F277I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGCCACCGTGTTCTACACAGT	0.458																																						ENST00000333973.2		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(829-831)Ttc>Atc		olfactory receptor, family 5, subfamily L, member 1							77.0	70.0	73.0					11																	55579771		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579771T>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.829T>A	11.37:g.55579771T>A	ENSP00000335529:p.Phe277Ile	False	False		Somatic	0					p.F277I	NM_001004738.1	NP_001004738.1	WXS	Illumina HiSeq	Phase_I	Q8NGL2	OR5L1_HUMAN			1	918	+		all_epithelial(135;0.208)	277					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.829T>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	14.42	2.530406	0.45073	.	.	ENSG00000186117	ENST00000333973	T	0.00188	8.59	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.00384	0.0012	M	0.69185	2.1	0.25320	N	0.989127	D	0.76494	0.999	D	0.75020	0.985	T	0.45614	-0.9249	10	0.87932	D	0	-74.2804	3.6719	0.08277	0.1926:0.1051:0.0:0.7023	.	277	Q8NGL2	OR5L1_HUMAN	I	277	ENSP00000335529:F277I	ENSP00000335529:F277I	F	+	1	0	OR5L1	55336347	0.000000	0.05858	0.486000	0.27416	0.349000	0.29174	0.487000	0.22356	1.529000	0.49120	0.352000	0.21897	TTC		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	0	NM_001004738		11:55579771
CPED1	79974	broad.mit.edu	37	7	120768504	120768504	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:120768504C>T	ENST00000310396.5	+	11	1838	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	CPED1_ENST00000450913.2_Silent_p.F457F|CPED1_ENST00000423795.1_Silent_p.F237F	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	457						endoplasmic reticulum (GO:0005783)											TTATGACTTTCATAAAGGAAC	0.368																																						ENST00000310396.5		NA																	0					NA						c.(1369-1371)ttC>ttT		cadherin-like and PC-esterase domain containing 1							80.0	84.0	83.0					7																	120768504		2203	4300	6503	SO:0001819	synonymous_variant	79974							g.chr7:120768504C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1371C>T	7.37:g.120768504C>T		True	False		Somatic	0				CPED1_ENST00000423795.1_Silent_p.F237F|CPED1_ENST00000450913.2_Silent_p.F457F	p.F457F	NM_024913.4	NP_079189.4	WXS	Illumina HiSeq	Phase_I					11	1838	+			NA					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.1371C>T	CCDS34739.1																																																																																				0.368	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	0	NM_024913		7:120768504
MUC20	200958	broad.mit.edu	37	3	195452870	195452870	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:195452870G>A	ENST00000447234.2	+	2	1522	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	MUC20_ENST00000445522.2_Missense_Mutation_p.E431K|MUC20_ENST00000320736.6_Missense_Mutation_p.E295K|MUC20_ENST00000436408.1_Missense_Mutation_p.E466K	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	466	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGACTCCACTGAAGCAAAACC	0.617																																						ENST00000320736.6		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(883-885)Gaa>Aaa		mucin 20, cell surface associated							70.0	60.0	63.0					3																	195452870		2187	4268	6455	SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195452870G>A	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1396G>A	3.37:g.195452870G>A	ENSP00000414350:p.Glu466Lys	False	False		Somatic	0				MUC20_ENST00000445522.2_Missense_Mutation_p.E431K|MUC20_ENST00000436408.1_Missense_Mutation_p.E466K|MUC20_ENST00000447234.2_Missense_Mutation_p.E466K	p.E295K	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	WXS	Illumina HiSeq	Phase_I	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1009	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	466		Missing.	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.883G>A		.	.	.	.	.	.	.	.	.	.	G	8.997	0.979161	0.18812	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.37752	1.7;2.04;1.85;1.18	4.28	2.47	0.30058	.	0.677507	0.13088	N	0.414779	T	0.22513	0.0543	N	0.20986	0.625	0.09310	N	1	B	0.24963	0.115	B	0.24974	0.057	T	0.19031	-1.0318	10	0.35671	T	0.21	-0.4165	6.4066	0.21668	0.2241:0.0:0.7759:0.0	.	295	E9PH32	.	K	466;295;466;431	ENSP00000414350:E466K;ENSP00000325431:E295K;ENSP00000396774:E466K;ENSP00000405629:E431K	ENSP00000325431:E295K	E	+	1	0	MUC20	196938541	0.069000	0.21087	0.005000	0.12908	0.004000	0.04260	0.769000	0.26604	0.554000	0.29061	0.514000	0.50259	GAA		0.617	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	0	NM_152673		3:195452870
SUSD1	64420	broad.mit.edu	37	9	114904607	114904607	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:114904607A>G	ENST00000374270.3	-	5	871	c.699T>C	c.(697-699)caT>caC	p.H233H	SUSD1_ENST00000374264.2_Silent_p.H233H|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Silent_p.H233H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	233	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.H233H(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CACCTTGGCAATGTAATTTTG	0.408																																						ENST00000374270.3		NA																SUSD1/ROD1(2)	1	Substitution - coding silent(1)	p.H233H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(697-699)caT>caC		sushi domain containing 1							115.0	118.0	117.0					9																	114904607		2203	4300	6503	SO:0001819	synonymous_variant	64420					integral to membrane	calcium ion binding	g.chr9:114904607A>G	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.699T>C	9.37:g.114904607A>G		False	False		Somatic	0				SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Silent_p.H233H|SUSD1_ENST00000374264.2_Silent_p.H233H	p.H233H	NM_022486.3	NP_071931.2	WXS	Illumina HiSeq	Phase_I	Q6UWL2	SUSD1_HUMAN			5	871	-			233			Sushi 1.		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	c.699T>C	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653217	0.14580	.	.	ENSG00000106868	ENST00000415074	.	.	.	5.66	0.0291	0.14161	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	-0.156	4.204	0.10480	0.3829:0.0:0.3733:0.2438	.	.	.	.	T	47	.	.	I	-	2	0	SUSD1	113944428	0.000000	0.05858	0.515000	0.27774	0.950000	0.60333	-0.799000	0.04560	0.126000	0.18424	0.528000	0.53228	ATT		0.408	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	0	NM_022486		9:114904607
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1		NA																	1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141.0	161.0	154.0					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser	False	False		Somatic	0				SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S	p.P752S			WXS	Illumina HiSeq	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	0	NM_003603		4:186544317
DENND5A	23258	broad.mit.edu	37	11	9187392	9187392	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:9187392G>A	ENST00000328194.3	-	11	2594	c.2274C>T	c.(2272-2274)tgC>tgT	p.C758C	DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000530044.1_Silent_p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	758					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTATTGCGGCATTCCTTCA	0.498																																						ENST00000328194.3		NA																	0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2272-2274)tgC>tgT		DENN/MADD domain containing 5A							164.0	145.0	151.0					11																	9187392		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9187392G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2274C>T	11.37:g.9187392G>A		False	False		Somatic	0				DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000530044.1_Silent_p.C758C	p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	WXS	Illumina HiSeq	Phase_I	Q6IQ26	DEN5A_HUMAN			11	2594	-			758					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.2274C>T	CCDS31423.1																																																																																				0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	0	NM_015213		11:9187392
FKBP6	8468	broad.mit.edu	37	7	72754662	72754662	+	Missense_Mutation	SNP	G	G	A	rs374791338		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:72754662G>A	ENST00000252037.4	+	6	680	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q|RNU6-1080P_ENST00000383982.1_RNA	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	204					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGCGCCGGCGATCAGCACCC	0.537																																						ENST00000252037.4		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(610-612)cGa>cAa		FK506 binding protein 6, 36kDa							56.0	60.0	59.0					7																	72754662		1972	4150	6122	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754662G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.611G>A	7.37:g.72754662G>A	ENSP00000252037:p.Arg204Gln	False	False		Somatic	0				FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q	p.R204Q	NM_003602.3	NP_003593.3	WXS	Illumina HiSeq	Phase_I	O75344	FKBP6_HUMAN			6	680	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	204					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.611G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	8.847	0.943556	0.18281	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.73897	-0.79;0.51;-0.79;-0.79	4.91	4.02	0.46733	Tetratricopeptide-like helical (1);	0.285857	0.32055	N	0.006641	T	0.50051	0.1593	N	0.21448	0.665	0.09310	N	0.999998	P;B;B	0.37864	0.61;0.185;0.287	B;B;B	0.25140	0.058;0.02;0.047	T	0.39165	-0.9627	10	0.15499	T	0.54	-10.6094	8.5323	0.33342	0.1717:0.0:0.8283:0.0	.	199;204;174	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	Q	199;159;174;204	ENSP00000416277:R199Q;ENSP00000402360:R159Q;ENSP00000394952:R174Q;ENSP00000252037:R204Q	ENSP00000252037:R204Q	R	+	2	0	FKBP6	72392598	0.532000	0.26346	0.135000	0.22099	0.007000	0.05969	4.204000	0.58460	2.284000	0.76573	0.563000	0.77884	CGA		0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	0	NM_003602		7:72754662
XIRP2	129446	broad.mit.edu	37	2	168100148	168100148	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:168100148G>A	ENST00000409195.1	+	9	2335	c.2246G>A	c.(2245-2247)gGc>gAc	p.G749D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	574					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGGTTCGGGCCAAATGCTG	0.383																																						ENST00000409195.1		NA																	0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2245-2247)gGc>gAc		xin actin-binding repeat containing 2							65.0	60.0	61.0					2																	168100148		1856	4088	5944	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100148G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2246G>A	2.37:g.168100148G>A	ENSP00000386840:p.Gly749Asp	True	False		Somatic	0				XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	p.G749D	NM_152381.5	NP_689594.4	WXS	Illumina HiSeq	Phase_I	A4UGR9	XIRP2_HUMAN			9	2335	+			574					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2246G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680470	0.68042	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.28666	1.65;1.65;1.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.63260	-0.6677	10	0.56958	D	0.05	-15.5671	19.9164	0.97064	0.0:0.0:1.0:0.0	.	574;574;527	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	749;749;527	ENSP00000386840:G749D;ENSP00000295237:G749D;ENSP00000387255:G527D	ENSP00000295237:G749D	G	+	2	0	XIRP2	167808394	1.000000	0.71417	0.766000	0.31476	0.867000	0.49689	9.106000	0.94253	2.810000	0.96702	0.650000	0.86243	GGC		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	0	NM_152381		2:168100148
STARD3NL	83930	broad.mit.edu	37	7	38256892	38256892	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:38256892C>G	ENST00000009041.7	+	6	796	c.539C>G	c.(538-540)gCa>gGa	p.A180G	STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	180	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CCTCAAGAAGCAGAAGAAGAA	0.483																																						ENST00000009041.7		NA																	0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(538-540)gCa>gGa		STARD3 N-terminal like							135.0	127.0	130.0					7																	38256892		2203	4300	6503	SO:0001583	missense	0					integral to membrane|late endosome membrane		g.chr7:38256892C>G	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.539C>G	7.37:g.38256892C>G	ENSP00000009041:p.Ala180Gly	True	False		Somatic	0				STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G	p.A180G	NM_032016.3	NP_114405.1	WXS	Illumina HiSeq	Phase_I	O95772	MENTO_HUMAN			6	796	+			180			MENTAL.		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.539C>G	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124761	0.77436	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000429075	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.93	5.93	0.95920	MENTAL domain (2);	0.150508	0.64402	D	0.000016	T	0.67951	0.2948	M	0.75447	2.3	0.50467	D	0.999874	P;P	0.52692	0.955;0.955	P;P	0.60236	0.871;0.843	T	0.67730	-0.5595	10	0.56958	D	0.05	-9.1947	19.1254	0.93380	0.0:1.0:0.0:0.0	.	162;180	C9JKL2;O95772	.;MENTO_HUMAN	G	180;173;162;180;180;180	ENSP00000009041:A180G;ENSP00000439436:A173G;ENSP00000394000:A162G;ENSP00000379334:A180G;ENSP00000411933:A180G;ENSP00000402028:A180G	ENSP00000009041:A180G	A	+	2	0	STARD3NL	38223417	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.985000	0.49362	2.826000	0.97356	0.655000	0.94253	GCA		0.483	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2	0			7:38256892
STX11	8676	broad.mit.edu	37	6	144507954	144507954	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:144507954C>T	ENST00000367568.4	+	2	373	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	64					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CGACGTGAAGCGGCTGGGAAA	0.622									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(190-192)Cgg>Tgg		syntaxin 11							36.0	34.0	35.0					6																	144507954		2203	4300	6503	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144507954C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.190C>T	6.37:g.144507954C>T	ENSP00000356540:p.Arg64Trp	False	False		Somatic	0					p.R64W	NM_003764.3	NP_003755.2	WXS	Illumina HiSeq	Phase_I	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	373	+			64					E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.190C>T	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830098	0.50845	.	.	ENSG00000135604	ENST00000367568	T	0.18960	2.18	5.99	5.99	0.97316	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.83603	2.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.41645	-0.9497	10	0.87932	D	0	-32.9952	15.6832	0.77388	0.1375:0.8624:0.0:0.0	.	64	O75558	STX11_HUMAN	W	64	ENSP00000356540:R64W	ENSP00000356540:R64W	R	+	1	2	STX11	144549647	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	2.859000	0.48364	2.840000	0.97914	0.655000	0.94253	CGG		0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1	0			6:144507954
HERC1	8925	broad.mit.edu	37	15	64025227	64025227	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:64025227C>T	ENST00000443617.2	-	14	2851	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	922					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G922*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAGATTTCCGTAGCCAGTA	0.458																																						ENST00000443617.2		NA																	2	Substitution - Nonsense(2)	p.G922*(2)	lung(2)	NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(2764-2766)Gga>Aga		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							117.0	113.0	114.0					15																	64025227		1949	4145	6094	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64025227C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2764G>A	15.37:g.64025227C>T	ENSP00000390158:p.Gly922Arg	False	False		Somatic	0					p.G922R	NM_003922.3	NP_003913.3	WXS	Illumina HiSeq	Phase_I	Q15751	HERC1_HUMAN			14	2851	-			922					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.2764G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217516	0.58560	.	.	ENSG00000103657	ENST00000443617	T	0.22743	1.94	5.67	5.67	0.87782	.	0.312879	0.26400	U	0.024596	T	0.09291	0.0229	N	0.08118	0	0.40185	D	0.97733	P	0.43633	0.813	B	0.27608	0.081	T	0.32508	-0.9904	10	0.16420	T	0.52	.	17.9412	0.89027	0.0:1.0:0.0:0.0	.	922	Q15751	HERC1_HUMAN	R	922	ENSP00000390158:G922R	ENSP00000390158:G922R	G	-	1	0	HERC1	61812280	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	2.592000	0.46171	2.658000	0.90341	0.655000	0.94253	GGA		0.458	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	0	NM_003922		15:64025227
STEAP3	55240	broad.mit.edu	37	2	120005741	120005741	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:120005741C>T	ENST00000354888.5	+	4	1483	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	327	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGCTGCGCCGCGCCCACCG	0.647																																						ENST00000354888.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(979-981)Cgc>Tgc		STEAP family member 3, metalloreductase							32.0	31.0	31.0					2																	120005741		2145	4206	6351	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005741C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.979C>T	2.37:g.120005741C>T	ENSP00000346961:p.Arg327Cys	True	False		Somatic	0				STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C	p.R327C	NM_182915.2	NP_878919.2	WXS	Illumina HiSeq	Phase_I	Q658P3	STEA3_HUMAN			4	1483	+			327			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.979C>T	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619547	0.46736	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.73	3.83	0.44106	Flavoprotein transmembrane component (1);	0.229211	0.38959	N	0.001514	D	0.94434	0.8209	M	0.78801	2.425	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.74023	0.982;0.969;0.745	D	0.94067	0.7332	9	.	.	.	-17.2643	13.0647	0.59025	0.1787:0.8213:0.0:0.0	.	327;337;327	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	327;327;327;337;327;327;327;327	ENSP00000376820:R327C;ENSP00000346961:R327C;ENSP00000396873:R327C;ENSP00000376822:R337C;ENSP00000376818:R327C;ENSP00000386510:R327C;ENSP00000376819:R327C;ENSP00000396214:R327C	.	R	+	1	0	STEAP3	119722211	1.000000	0.71417	0.975000	0.42487	0.152000	0.21847	1.719000	0.38011	1.150000	0.42419	0.561000	0.74099	CGC		0.647	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	0	NM_018234		2:120005741
USP37	57695	broad.mit.edu	37	2	219414540	219414540	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:219414540C>A	ENST00000258399.3	-	6	833	c.421G>T	c.(421-423)Gac>Tac	p.D141Y	USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000418019.1_Missense_Mutation_p.D141Y	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	141					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACCTGATTGTCTGAGTAAGAA	0.488																																						ENST00000258399.3		NA																	0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(421-423)Gac>Tac		ubiquitin specific peptidase 37							104.0	108.0	107.0					2																	219414540		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219414540C>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.421G>T	2.37:g.219414540C>A	ENSP00000258399:p.Asp141Tyr	False	False		Somatic	0				USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000418019.1_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y	p.D141Y	NM_020935.2	NP_065986.2	WXS	Illumina HiSeq	Phase_I	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	6	833	-		Renal(207;0.0915)	141					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.421G>T	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191379	0.58017	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.49139	0.92;0.92;0.92;0.92;0.79	5.03	5.03	0.67393	.	0.164432	0.53938	D	0.000059	T	0.44787	0.1310	N	0.08118	0	0.45354	D	0.998346	D;P;P	0.59767	0.986;0.904;0.845	P;P;B	0.57152	0.814;0.542;0.254	T	0.55147	-0.8186	10	0.66056	D	0.02	-13.609	16.7819	0.85565	0.0:1.0:0.0:0.0	.	141;69;141	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	Y	141;141;69;141;141	ENSP00000258399:D141Y;ENSP00000393662:D141Y;ENSP00000400902:D69Y;ENSP00000396585:D141Y;ENSP00000345043:D141Y	ENSP00000258399:D141Y	D	-	1	0	USP37	219122784	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.725000	0.61979	2.640000	0.89533	0.579000	0.79373	GAC		0.488	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	0	NM_020935		2:219414540
NPEPPS	9520	broad.mit.edu	37	17	45669380	45669380	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:45669380A>G	ENST00000322157.4	+	11	1556	c.1319A>G	c.(1318-1320)aAa>aGa	p.K440R	NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	440					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCATATAGCAAAGGTGCATCT	0.378																																						ENST00000322157.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1318-1320)aAa>aGa		aminopeptidase puromycin sensitive							156.0	90.0	112.0					17																	45669380		1976	4119	6095	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45669380A>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1319A>G	17.37:g.45669380A>G	ENSP00000320324:p.Lys440Arg	True	False		Somatic	0				NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R|NPEPPS_ENST00000525037.1_3'UTR	p.K440R	NM_006310.3	NP_006301.3	WXS	Illumina HiSeq	Phase_I	P55786	PSA_HUMAN			11	1556	+			440					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.1319A>G	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881700	0.91740	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.51	5.51	0.81932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.65261	-0.6211	10	0.87932	D	0	.	15.6257	0.76855	1.0:0.0:0.0:0.0	.	440;436;440	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	R	436;440;427;360;123;137	ENSP00000433287:K436R;ENSP00000320324:K440R;ENSP00000442461:K360R;ENSP00000435639:K123R;ENSP00000435966:K137R	ENSP00000320324:K440R	K	+	2	0	NPEPPS	43024379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	2.099000	0.63709	0.528000	0.53228	AAA		0.378	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	0	NM_006310		17:45669380
RBBP6	5930	broad.mit.edu	37	16	24580170	24580170	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:24580170G>T	ENST00000319715.4	+	17	2591	c.2159G>T	c.(2158-2160)aGc>aTc	p.S720I	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	720					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGATCATTCAGCCGCTCACAT	0.438																																						ENST00000319715.4		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(2158-2160)aGc>aTc		retinoblastoma binding protein 6							149.0	131.0	137.0					16																	24580170		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24580170G>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.2159G>T	16.37:g.24580170G>T	ENSP00000317872:p.Ser720Ile	False	False		Somatic	0				RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I|RBBP6_ENST00000381039.3_Intron	p.S720I	NM_006910.4	NP_008841.2	WXS	Illumina HiSeq	Phase_I	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	2591	+			720					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.2159G>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497395	0.44455	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.25414	1.95;1.8	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	T	0.44603	0.1301	L	0.34521	1.04	0.40089	D	0.976239	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.31724	-0.9933	10	0.72032	D	0.01	-12.372	20.4581	0.99154	0.0:0.0:1.0:0.0	.	686;720	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	I	720;686	ENSP00000317872:S720I;ENSP00000316291:S686I	ENSP00000317872:S720I	S	+	2	0	RBBP6	24487671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	2.835000	0.97688	0.650000	0.86243	AGC		0.438	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	0	NM_006910		16:24580170
KCTD19	146212	broad.mit.edu	37	16	67333359	67333359	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:67333359G>A	ENST00000304372.5	-	6	948	c.893C>T	c.(892-894)cCg>cTg	p.P298L	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	298					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGCAGAGTCCGGGTACTTGAC	0.622																																						ENST00000304372.5		NA																	0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(892-894)cCg>cTg		potassium channel tetramerization domain containing 19							92.0	101.0	98.0					16																	67333359		2049	4201	6250	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333359G>A	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.893C>T	16.37:g.67333359G>A	ENSP00000305702:p.Pro298Leu	True	False		Somatic	0				KCTD19_ENST00000562860.1_5'UTR	p.P298L	NM_001100915.1	NP_001094385.1	WXS	Illumina HiSeq	Phase_I	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	948	-		Ovarian(137;0.192)	298					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.893C>T	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044864	0.93685	.	.	ENSG00000168676	ENST00000304372	T	0.63913	-0.07	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000005	T	0.75250	0.3824	L	0.50333	1.59	0.53688	D	0.999976	D	0.89917	1.0	D	0.79108	0.992	T	0.75977	-0.3127	10	0.87932	D	0	-15.5417	17.0645	0.86556	0.0:0.0:1.0:0.0	.	298	Q17RG1	KCD19_HUMAN	L	298	ENSP00000305702:P298L	ENSP00000305702:P298L	P	-	2	0	KCTD19	65890860	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.859000	0.69539	2.884000	0.98904	0.655000	0.94253	CCG		0.622	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	0	XM_085367		16:67333359
C9	735	broad.mit.edu	37	5	39331865	39331865	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:39331865G>C	ENST00000263408.4	-	5	623	c.528C>G	c.(526-528)ttC>ttG	p.F176L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	176	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTCCATTGTAGAACTCATTGT	0.438																																						ENST00000263408.4		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(526-528)ttC>ttG		complement component 9							199.0	194.0	196.0					5																	39331865		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39331865G>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.528C>G	5.37:g.39331865G>C	ENSP00000263408:p.Phe176Leu	False	False		Somatic	0				C9_ENST00000509186.1_5'UTR	p.F176L	NM_001737.3	NP_001728.1	WXS	Illumina HiSeq	Phase_I	P02748	CO9_HUMAN	Epithelial(62;0.158)		5	623	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	176			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.528C>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205577	0.58234	.	.	ENSG00000113600	ENST00000263408	T	0.33438	1.41	5.72	4.74	0.60224	Membrane attack complex component/perforin (MACPF) domain (1);	0.573755	0.19914	N	0.103230	T	0.22551	0.0544	L	0.45581	1.43	0.41407	D	0.987719	P	0.42456	0.78	B	0.38106	0.265	T	0.02909	-1.1095	10	0.37606	T	0.19	-8.041	4.5426	0.12066	0.2863:0.0:0.7137:0.0	.	176	P02748	CO9_HUMAN	L	176	ENSP00000263408:F176L	ENSP00000263408:F176L	F	-	3	2	C9	39367622	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.003000	0.49505	2.709000	0.92574	0.561000	0.74099	TTC		0.438	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3	0			5:39331865
FAM104B	90736	broad.mit.edu	37	X	55172586	55172586	+	Intron	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:55172586G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000425133.2_Silent_p.S94S|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Silent_p.S92S			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.S94S(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGTTGATATGGGAGTAAAGAC	0.478																																						ENST00000425133.2		NA																	1	Substitution - coding silent(1)	p.S94S(1)	endometrium(1)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(280-282)tcC>tcT		family with sequence similarity 104, member B							78.0	66.0	70.0					X																	55172586		2203	4297	6500	SO:0001627	intron_variant	90736							g.chrX:55172586G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+27C>T	X.37:g.55172586G>A		True	False		Somatic	0				FAM104B_ENST00000489298.1_Silent_p.S92S|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000472571.2_3'UTR	p.S94S	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	WXS	Illumina HiSeq	Phase_I	Q5XKR9	F104B_HUMAN			3	320	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Silent	SNP	ENST00000358460.4	37	c.282C>T	CCDS35305.2																																																																																				0.478	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	0	NM_138362		X:55172586
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20352	0.0		0.0	False		,,,				2504	0.0					ENST00000346248.5		NA																	0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(217-219)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15		G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	85.0	75.0	79.0		217,217	4.8	1.0	10	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense	CHST15	NM_014863.2,NM_015892.3	180,180	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	73/507,73/562	125805512	3,13003	2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805512G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.217C>T	10.37:g.125805512G>A	ENSP00000333947:p.Arg73Cys	False	False		Somatic	0				CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	p.R73C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	WXS	Illumina HiSeq	Phase_I	Q7LFX5	CHSTF_HUMAN			2	859	-			73					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.217C>T	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	CHST15	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC		0.453	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	0	NM_015892		10:125805512
DHRS4L1	728635	broad.mit.edu	37	14	24517390	24517390	+	RNA	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24517390T>C	ENST00000558293.1	+	0	463					NR_102693.1																						GGGAAGGCCCTAGCCCTAATG	0.507																																						ENST00000558293.1		NA																	0					NA								dehydrogenase/reductase (SDR family) member 4 like 1							114.0	113.0	114.0					14																	24517390		2203	4300	6503			728635							g.chr14:24517390T>C																													14.37:g.24517390T>C		True	False		Somatic	0						NR_102693.1		WXS	Illumina HiSeq	Phase_I					0	463	+			NA						RNA	SNP	ENST00000558293.1	37			.	.	.	.	.	.	.	.	.	.	C	11.38	1.622524	0.28889	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.2	2.33	0.28932	NAD(P)-binding domain (1);	.	.	.	.	T	0.13670	0.0331	N	0.01081	-1.03	0.20403	N	0.999901	B	0.02656	0.0	B	0.01281	0.0	T	0.27297	-1.0078	7	0.13853	T	0.58	.	8.272	0.31849	0.0:0.7224:0.0:0.2776	.	148	P0CG22	DR4L1_HUMAN	P	148	.	ENSP00000380255:L148P	L	+	2	0	AL136295.1	23587230	0.972000	0.33761	0.001000	0.08648	0.338000	0.28826	3.117000	0.50407	0.162000	0.19483	-0.534000	0.04291	CTA		0.507	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1	0			14:24517390
TAS1R2	80834	broad.mit.edu	37	1	19181067	19181067	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:19181067G>A	ENST00000375371.3	-	3	918	c.897C>T	c.(895-897)atC>atT	p.I299I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	299					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACTCGGAGGCGATCCACACGG	0.642																																						ENST00000375371.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(895-897)atC>atT		taste receptor, type 1, member 2	Aspartame(DB00168)						57.0	54.0	55.0					1																	19181067		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181067G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.897C>T	1.37:g.19181067G>A		False	False		Somatic	0				RP13-279N23.2_ENST00000494072.3_3'UTR	p.I299I	NM_152232.2	NP_689418.2	WXS	Illumina HiSeq	Phase_I	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	918	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	299					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.897C>T	CCDS187.1																																																																																				0.642	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	0			1:19181067
ATP12A	479	broad.mit.edu	37	13	25255720	25255720	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:25255720C>T	ENST00000381946.3	+	2	197	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ATP12A_ENST00000218548.6_Silent_p.S10S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	10					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AAATTTACTCCGTGGAGCTCA	0.522																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6		NA																	0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(28-30)tcC>tcT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						60.0	63.0	62.0					13																	25255720		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25255720C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.30C>T	13.37:g.25255720C>T		False	False		Somatic	0				ATP12A_ENST00000381946.3_Silent_p.S10S	p.S10S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina HiSeq	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	2	363	+		Lung SC(185;0.0225)|Breast(139;0.077)	10					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.30C>T	CCDS31948.1																																																																																				0.522	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	0	NM_001676		13:25255720
DRG1	4733	broad.mit.edu	37	22	31819348	31819348	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:31819348G>A	ENST00000331457.4	+	6	826	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	222	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)	p.R222H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GTGACTCTACGTAGTGATGCT	0.478																																						ENST00000331457.4		NA																	1	Substitution - Missense(1)	p.R222H(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(664-666)cGt>cAt		developmentally regulated GTP binding protein 1							166.0	131.0	143.0					22																	31819348		2203	4298	6501	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31819348G>A	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.665G>A	22.37:g.31819348G>A	ENSP00000329715:p.Arg222His	False	False		Somatic	0					p.R222H	NM_004147.3	NP_004138.1	WXS	Illumina HiSeq	Phase_I	Q9Y295	DRG1_HUMAN			6	826	+			222					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.665G>A	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276534	0.80580	.	.	ENSG00000185721	ENST00000331457	T	0.37584	1.19	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	M	0.85859	2.78	0.80722	D	1	B	0.22146	0.065	B	0.27170	0.077	T	0.53457	-0.8436	10	0.59425	D	0.04	-11.3866	18.1039	0.89513	0.0:0.0:1.0:0.0	.	222	Q9Y295	DRG1_HUMAN	H	222	ENSP00000329715:R222H	ENSP00000329715:R222H	R	+	2	0	DRG1	30149348	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.858000	0.92256	2.581000	0.87130	0.563000	0.77884	CGT		0.478	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	0	NM_004147		22:31819348
LRP1B	53353	broad.mit.edu	37	2	141200074	141200074	+	Splice_Site	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACACTCACCGCAGTTGGCCT	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e66+1		low density lipoprotein receptor-related protein 1B							140.0	127.0	131.0					2																	141200074		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141200074G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10414+1C>T	2.37:g.141200074G>A		False	False	TSP Lung(27;0.18)	Somatic	0					p.C3471_splice	NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	66	11384	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3471			LDL-receptor class A 24.		Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.10414_splice	CCDS2182.1																																																																																				0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557	Silent	2:141200074
ZNF536	9745	broad.mit.edu	37	19	30935392	30935392	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:30935392C>T	ENST00000355537.3	+	2	1070	c.923C>T	c.(922-924)gCg>gTg	p.A308V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	308					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCGACTTCGCGGCTTCGCAG	0.642																																						ENST00000355537.3		NA																	0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(922-924)gCg>gTg		zinc finger protein 536							76.0	85.0	82.0					19																	30935392		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935392C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.923C>T	19.37:g.30935392C>T	ENSP00000347730:p.Ala308Val	False	False		Somatic	0					p.A308V	NM_014717.1	NP_055532.1	WXS	Illumina HiSeq	Phase_I	O15090	ZN536_HUMAN			2	1070	+	Esophageal squamous(110;0.0834)		308					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.923C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675111	0.47781	.	.	ENSG00000198597	ENST00000355537	T	0.29142	1.58	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.35644	1.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43442	-0.9391	10	0.56958	D	0.05	-25.2974	19.5661	0.95393	0.0:1.0:0.0:0.0	.	308;308	A7E228;O15090	.;ZN536_HUMAN	V	308	ENSP00000347730:A308V	ENSP00000347730:A308V	A	+	2	0	ZNF536	35627232	1.000000	0.71417	0.962000	0.40283	0.740000	0.42216	7.788000	0.85771	2.631000	0.89168	0.491000	0.48974	GCG		0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	0	NM_014717		19:30935392
PCDHB6	56130	broad.mit.edu	37	5	140530477	140530477	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140530477G>A	ENST00000231136.1	+	1	639	c.639G>A	c.(637-639)gcG>gcA	p.A213A	PCDHB6_ENST00000543635.1_Silent_p.A77A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGATCGCGCTGGATGGCG	0.602																																						ENST00000231136.1		NA																	0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(637-639)gcG>gcA									53.0	57.0	56.0					5																	140530477		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530477G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.639G>A	5.37:g.140530477G>A		False	False		Somatic	0				PCDHB6_ENST00000543635.1_Silent_p.A77A	p.A213A	NM_018939.2	NP_061762.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	639	+			213			Cadherin 2.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.639G>A	CCDS4248.1																																																																																				0.602	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	0	NM_018939		5:140530477
CD164	8763	broad.mit.edu	37	6	109690132	109690132	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:109690132C>T	ENST00000310786.4	-	6	581	c.516G>A	c.(514-516)ctG>ctA	p.L172L	CD164_ENST00000506649.1_5'UTR|CD164_ENST00000324953.5_Silent_p.L153L|CD164_ENST00000368961.5_Silent_p.L140L|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000275080.7_Silent_p.L159L|CD164_ENST00000512821.1_Intron|CD164_ENST00000413644.2_Silent_p.L172L	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	172					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		CACCCAAGACCAGGACAATTC	0.388																																						ENST00000368961.5		NA																	0				breast(1)|lung(2)	3						c.(418-420)ctG>ctA		CD164 molecule, sialomucin							104.0	94.0	97.0					6																	109690132		2203	4300	6503	SO:0001819	synonymous_variant	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109690132C>T	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.516G>A	6.37:g.109690132C>T		False	False		Somatic	0				CD164_ENST00000506649.1_5'UTR|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000512821.1_Intron|CD164_ENST00000310786.4_Silent_p.L172L|CD164_ENST00000275080.7_Silent_p.L159L|CD164_ENST00000324953.5_Silent_p.L153L	p.L140L			WXS	Illumina HiSeq	Phase_I	Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	4	600	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	172			Thr-rich.		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Silent	SNP	ENST00000310786.4	37	c.420G>A	CCDS5073.1																																																																																				0.388	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	0	NM_006016		6:109690132
BAI1	575	broad.mit.edu	37	8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	792					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGCTGGCGGGCCACGGG	0.632																																						ENST00000517894.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(2374-2376)Cgg>Tgg		brain-specific angiogenesis inhibitor 1							68.0	78.0	75.0					8																	143569790		2039	4190	6229	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143569790C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2374C>T	8.37:g.143569790C>T	ENSP00000430945:p.Arg792Trp	True	False		Somatic	0				BAI1_ENST00000323289.5_Missense_Mutation_p.R792W	p.R792W			WXS	Illumina HiSeq	Phase_I	O14514	BAI1_HUMAN			14	3268	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		792						Missense_Mutation	SNP	ENST00000517894.1	37	c.2374C>T		.	.	.	.	.	.	.	.	.	.	C	17.56	3.419482	0.62622	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28666	1.6;1.6	4.65	1.7	0.24286	.	0.070341	0.53938	U	0.000049	T	0.44767	0.1309	L	0.61218	1.895	0.50632	D	0.999889	D	0.89917	1.0	D	0.65987	0.94	T	0.28839	-1.0031	10	0.87932	D	0	.	7.1912	0.25826	0.5489:0.3668:0.0:0.0842	.	792	E9PBK0	.	W	792	ENSP00000430945:R792W;ENSP00000313046:R792W	ENSP00000313046:R792W	R	+	1	2	BAI1	143566792	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	0.764000	0.26532	0.107000	0.17824	0.313000	0.20887	CGG		0.632	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	0	NM_001702		8:143569790
ISY1	57461	broad.mit.edu	37	3	128859253	128859253	+	Missense_Mutation	SNP	C	C	T	rs566531045		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:128859253C>T	ENST00000393295.3	-	7	693	c.376G>A	c.(376-378)Gca>Aca	p.A126T	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.A126T|ISY1_ENST00000273541.8_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393292.3_Missense_Mutation_p.A126T	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	126					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AAATCTTTTGCTGCTCCAAAG	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		18059	0.001		0.0	False		,,,				2504	0.0					ENST00000418265.1		NA																	0					NA						c.(376-378)Gca>Aca									203.0	189.0	193.0					3																	128859253		1842	4079	5921	SO:0001583	missense	0					catalytic step 2 spliceosome		g.chr3:128859253C>T		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.376G>A	3.37:g.128859253C>T	ENSP00000376973:p.Ala126Thr	False	False		Somatic	0				ISY1_ENST00000273541.8_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393292.3_Missense_Mutation_p.A126T|ISY1_ENST00000393295.3_Missense_Mutation_p.A126T	p.A126T	NM_001204890.1	NP_001191819.1	WXS	Illumina HiSeq	Phase_I	Q9ULR0	ISY1_HUMAN			7	436	-			126					Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.376G>A	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462755	0.96257	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.61980	0.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.86045	0.5839	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90111	0.4192	10	0.87932	D	0	.	17.2241	0.86964	0.0:1.0:0.0:0.0	.	126;126;126	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	T	126;126;126;64;126	ENSP00000273541:A126T	ENSP00000273541:A126T	A	-	1	0	ISY1	130341943	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.214000	0.77958	2.663000	0.90544	0.591000	0.81541	GCA		0.368	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	0	NM_020701		3:128859253
LRP1B	53353	broad.mit.edu	37	2	141267495	141267495	+	Splice_Site	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141267495A>G	ENST00000389484.3	-	52	9370		c.e52+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGTTCATACCGCAGCCTG	0.512										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e52+1		low density lipoprotein receptor-related protein 1B							121.0	104.0	110.0					2																	141267495		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141267495A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8398+1T>C	2.37:g.141267495A>G		False	False	TSP Lung(27;0.18)	Somatic	0						NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	52	9370	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	NA					Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37		CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	31	5.096901	0.94197	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140983965	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.852000	0.92215	2.371000	0.80710	0.533000	0.62120	.		0.512	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557	Intron	2:141267495
WDR63	126820	broad.mit.edu	37	1	85575766	85575766	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:85575766C>T	ENST00000294664.6	+	16	1914	c.1734C>T	c.(1732-1734)caC>caT	p.H578H	WDR63_ENST00000326813.8_Silent_p.H539H|WDR63_ENST00000370596.1_Silent_p.H539H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	578										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTTTAGACCACTGTCCAACCA	0.388																																						ENST00000294664.6		NA																	0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1732-1734)caC>caT		WD repeat domain 63							128.0	124.0	125.0					1																	85575766		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85575766C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1734C>T	1.37:g.85575766C>T		False	False		Somatic	0				WDR63_ENST00000326813.8_Silent_p.H539H|WDR63_ENST00000370596.1_Silent_p.H539H	p.H578H	NM_145172.3	NP_660155.2	WXS	Illumina HiSeq	Phase_I	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	16	1914	+			578					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.1734C>T	CCDS702.1																																																																																				0.388	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	0	NM_145172		1:85575766
DKC1	1736	broad.mit.edu	37	X	154001414	154001414	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:154001414T>A	ENST00000369550.5	+	11	1255	c.1045T>A	c.(1045-1047)Tta>Ata	p.L349I	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	349	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	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)					AGCTATTGCATTAATGACCAC	0.408									Congenital Dyskeratosis																													ENST00000369550.5		NA																	0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1045-1047)Tta>Ata		dyskeratosis congenita 1, dyskerin							102.0	95.0	97.0					X																	154001414		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:154001414T>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1045T>A	X.37:g.154001414T>A	ENSP00000358563:p.Leu349Ile	False	False		Somatic	0				DKC1_ENST00000475966.1_3'UTR	p.L349I	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	WXS	Illumina HiSeq	Phase_I	O60832	DKC1_HUMAN			11	1255	+	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)		349			PUA.		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.1045T>A	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138074	0.56936	.	.	ENSG00000130826	ENST00000369550	D	0.95342	-3.68	5.7	-1.01	0.10169	Uncharacterised domain CHP00451 (1);Pseudouridine synthase/archaeosine transglycosylase (3);PUA-like domain (1);	0.000000	0.64402	D	0.000001	D	0.93363	0.7884	M	0.87180	2.865	0.44085	D	0.996845	B;B	0.33637	0.42;0.42	B;B	0.36378	0.159;0.223	D	0.86175	0.1602	10	0.26408	T	0.33	-6.4408	10.7852	0.46401	0.0:0.5019:0.0:0.4981	.	349;349	A8MUT5;O60832	.;DKC1_HUMAN	I	349	ENSP00000358563:L349I	ENSP00000358563:L349I	L	+	1	2	DKC1	153654608	0.851000	0.29673	0.004000	0.12327	0.277000	0.26821	1.370000	0.34238	-0.567000	0.06046	-0.323000	0.08544	TTA		0.408	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	0	NM_001363		X:154001414
KRT26	353288	broad.mit.edu	37	17	38926251	38926251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:38926251G>A	ENST00000335552.4	-	4	853	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTGCGGTTCTGCTCAGCCAAG	0.522																																						ENST00000335552.4		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(805-807)Cag>Tag		keratin 26							229.0	201.0	211.0					17																	38926251		2203	4300	6503	SO:0001587	stop_gained	353288					intermediate filament	structural molecule activity	g.chr17:38926251G>A	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.805C>T	17.37:g.38926251G>A	ENSP00000334798:p.Gln269*	False	False		Somatic	0					p.Q269*	NM_181539.4	NP_853517.2	WXS	Illumina HiSeq	Phase_I	Q7Z3Y9	K1C26_HUMAN			4	853	-		Breast(137;0.00526)	269			Coil 2.|Rod.			Nonsense_Mutation	SNP	ENST00000335552.4	37	c.805C>T	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886500	0.91814	.	.	ENSG00000186393	ENST00000335552	.	.	.	5.0	4.01	0.46588	.	0.113960	0.39834	N	0.001254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2179	0.37360	0.0:0.1394:0.5984:0.2622	.	.	.	.	X	269	.	ENSP00000334798:Q269X	Q	-	1	0	KRT26	36179777	0.996000	0.38824	1.000000	0.80357	0.883000	0.51084	2.338000	0.43957	1.206000	0.43276	0.655000	0.94253	CAG		0.522	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	0	NM_181539		17:38926251
MAP7D1	55700	broad.mit.edu	37	1	36638181	36638181	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:36638181C>T	ENST00000373151.2	+	4	793	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C|MAP7D1_ENST00000316156.4_Missense_Mutation_p.R193C	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	193					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGAGCAACGCCGTGCAGCCCT	0.627																																						ENST00000316156.4		NA																	0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(577-579)Cgt>Tgt		MAP7 domain containing 1							23.0	22.0	22.0					1																	36638181		2202	4299	6501	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36638181C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.577C>T	1.37:g.36638181C>T	ENSP00000362244:p.Arg193Cys	False	False		Somatic	0				MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.R193C|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C	p.R193C			WXS	Illumina HiSeq	Phase_I	Q3KQU3	MA7D1_HUMAN			4	1030	+		Myeloproliferative disorder(586;0.0393)	193					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.577C>T	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006474	0.74932	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.41	2.07	0.26955	.	0.000000	0.36167	N	0.002748	T	0.35278	0.0926	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.21861	-1.0233	10	0.87932	D	0	-9.3369	13.1246	0.59346	0.5338:0.4662:0.0:0.0	.	193;193;193	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	C	154;193;193;193	ENSP00000390091:R154C;ENSP00000320228:R193C;ENSP00000362243:R193C;ENSP00000362244:R193C	ENSP00000320228:R193C	R	+	1	0	MAP7D1	36410768	0.998000	0.40836	0.921000	0.36526	0.840000	0.47671	1.949000	0.40313	0.590000	0.29694	0.655000	0.94253	CGT		0.627	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	0	NM_018067		1:36638181
DENND2C	163259	broad.mit.edu	37	1	115130471	115130471	+	Missense_Mutation	SNP	C	C	T	rs566142081		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:115130471C>T	ENST00000393274.1	-	19	3159	c.2534G>A	c.(2533-2535)cGt>cAt	p.R845H	DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	845	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAAAACACGCTCCCCACG	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15650	0.0		0.0	False		,,,				2504	0.0					ENST00000393274.1		NA																	0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2533-2535)cGt>cAt		DENN/MADD domain containing 2C							104.0	88.0	93.0					1																	115130471		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115130471C>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2534G>A	1.37:g.115130471C>T	ENSP00000376955:p.Arg845His	False	False		Somatic	0				DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H|DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000481894.1_5'UTR	p.R845H	NM_001256404.1	NP_001243333.1	WXS	Illumina HiSeq	Phase_I	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3159	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	845			dDENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2534G>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902121	0.92035	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.48201	0.82;0.82;0.82	5.9	5.9	0.94986	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.79123	2.44	0.27020	N	0.964491	D;P	0.89917	1.0;0.952	D;P	0.75484	0.986;0.629	T	0.59989	-0.7350	10	0.87932	D	0	.	13.5289	0.61611	0.0:0.929:0.0:0.071	.	845;788	Q68D51;Q68D51-3	DEN2C_HUMAN;.	H	788;845;845;733	ENSP00000376957:R788H;ENSP00000376955:R845H;ENSP00000376958:R733H	ENSP00000358553:R845H	R	-	2	0	DENND2C	114931994	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.847000	0.62867	2.817000	0.96982	0.551000	0.68910	CGT		0.478	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	0	NM_198459		1:115130471
OLFML2B	25903	broad.mit.edu	37	1	161953664	161953664	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:161953664G>A	ENST00000294794.3	-	8	2477	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V|OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	685	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.A685V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTATCCACGGCATACAGCAC	0.562																																						ENST00000294794.3		NA																	2	Substitution - Missense(2)	p.A685V(2)	lung(1)|prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2053-2055)gCc>gTc		olfactomedin-like 2B							267.0	245.0	252.0					1																	161953664		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161953664G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2054C>T	1.37:g.161953664G>A	ENSP00000294794:p.Ala685Val	False	False		Somatic	0				OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V|OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V	p.A685V	NM_015441.1	NP_056256.1	WXS	Illumina HiSeq	Phase_I	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2477	-	all_hematologic(112;0.156)		685			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.2054C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009105	0.75046	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.87179	-2.22;-2.22;-2.22	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	D	0.88709	0.6510	L	0.46741	1.465	0.44373	D	0.997279	D;P	0.89917	1.0;0.917	D;P	0.87578	0.998;0.817	D	0.86127	0.1572	8	0.25106	T	0.35	.	16.5695	0.84607	0.0:0.0:1.0:0.0	.	686;685	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	V	685;686;168	ENSP00000294794:A685V;ENSP00000356917:A686V;ENSP00000356915:A168V	ENSP00000294794:A685V	A	-	2	0	OLFML2B	160220288	1.000000	0.71417	0.766000	0.31476	0.396000	0.30629	9.726000	0.98782	2.491000	0.84063	0.561000	0.74099	GCC		0.562	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	0	NM_015441		1:161953664
LGR4	55366	broad.mit.edu	37	11	27389696	27389696	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:27389696G>A	ENST00000379214.4	-	18	3017	c.2574C>T	c.(2572-2574)tgC>tgT	p.C858C	LGR4_ENST00000389858.4_Silent_p.C834C	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	858					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.C858C(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CGCAGCAGTCGCAAACAGTCA	0.458																																						ENST00000379214.4		NA																	1	Substitution - coding silent(1)	p.C858C(1)	large_intestine(1)	NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2572-2574)tgC>tgT		leucine-rich repeat containing G protein-coupled receptor 4							133.0	127.0	129.0					11																	27389696		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27389696G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2574C>T	11.37:g.27389696G>A		False	False		Somatic	0				LGR4_ENST00000389858.4_Silent_p.C834C	p.C858C	NM_018490.2	NP_060960.2	WXS	Illumina HiSeq	Phase_I	Q9BXB1	LGR4_HUMAN			18	3017	-			858					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.2574C>T	CCDS31449.1																																																																																				0.458	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	0	NM_018490		11:27389696
MECR	51102	broad.mit.edu	37	1	29543138	29543138	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:29543138G>A	ENST00000263702.6	-	2	261	c.236C>T	c.(235-237)gCg>gTg	p.A79V	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_Missense_Mutation_p.A3V			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	79					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GATAGGGGCCGCCAGCATCTT	0.463																																						ENST00000373791.3		NA																	0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(7-9)gCg>gTg		mitochondrial trans-2-enoyl-CoA reductase							228.0	228.0	228.0					1																	29543138		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29543138G>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.236C>T	1.37:g.29543138G>A	ENSP00000263702:p.Ala79Val	False	False		Somatic	0				MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.A79V	p.A3V	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	WXS	Illumina HiSeq	Phase_I	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	2	380	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	79					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.8C>T	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254225	0.95336	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.59772	0.24;0.24	5.87	5.87	0.94306	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	P	0.62014	0.897	T	0.76854	-0.2805	10	0.42905	T	0.14	.	15.7789	0.78243	0.0:0.0:1.0:0.0	.	79	Q9BV79	MECR_HUMAN	V	3;79	ENSP00000362896:A3V;ENSP00000263702:A79V	ENSP00000263702:A79V	A	-	2	0	MECR	29415725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.434000	0.90294	2.798000	0.96311	0.650000	0.86243	GCG		0.463	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	0	NM_016011		1:29543138
NDUFV2	4729	broad.mit.edu	37	18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:9122540G>A	ENST00000318388.6	+	5	444	c.330G>A	c.(328-330)atG>atA	p.M110I	RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.M113I|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						TACCTCCAATGAGAGTATATG	0.328																																						ENST00000400033.1		NA																	0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(337-339)atG>atA		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						99.0	96.0	97.0					18																	9122540		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9122540G>A	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.330G>A	18.37:g.9122540G>A	ENSP00000327268:p.Met110Ile	False	False		Somatic	0				RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA	p.M113I			WXS	Illumina HiSeq	Phase_I	P19404	NDUV2_HUMAN			6	456	+			110					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.339G>A	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714320	0.68730	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.41400	1.0;1.0	5.93	5.93	0.95920	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	N	0.13299	0.325	0.80722	D	1	B	0.23806	0.091	B	0.40329	0.326	T	0.16928	-1.0386	10	0.11182	T	0.66	-14.8923	20.3397	0.98756	0.0:0.0:1.0:0.0	.	110	P19404	NDUV2_HUMAN	I	110;113	ENSP00000327268:M110I;ENSP00000382908:M113I	ENSP00000327268:M110I	M	+	3	0	NDUFV2	9112540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	ATG		0.328	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	0	NM_021074		18:9122540
STAB2	55576	broad.mit.edu	37	12	103988268	103988268	+	Missense_Mutation	SNP	G	G	A	rs151009841	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:103988268G>A	ENST00000388887.2	+	3	515	c.311G>A	c.(310-312)cGc>cAc	p.R104H	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCCTGGCCGCTGGGGCCCA	0.493																																						ENST00000388887.2		NA																	0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(310-312)cGc>cAc		stabilin 2		G	HIS/ARG	0,4406		0,0,2203	131.0	118.0	122.0		311	3.3	1.0	12	dbSNP_134	122	10,8590	7.7+/-29.5	0,10,4290	yes	missense	STAB2	NM_017564.9	29	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	benign	104/2552	103988268	10,12996	2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:103988268G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.311G>A	12.37:g.103988268G>A	ENSP00000373539:p.Arg104His	False	False		Somatic	0					p.R104H	NM_017564.9	NP_060034.9	WXS	Illumina HiSeq	Phase_I	Q8WWQ8	STAB2_HUMAN			3	515	+			104						Missense_Mutation	SNP	ENST00000388887.2	37	c.311G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	7.358	0.624164	0.14193	0.0	0.001163	ENSG00000136011	ENST00000388887	T	0.33865	1.39	5.78	3.29	0.37713	.	0.371469	0.28809	N	0.014065	T	0.12902	0.0313	N	0.02103	-0.685	0.20403	N	0.999908	B	0.02656	0.0	B	0.01281	0.0	T	0.16100	-1.0414	10	0.31617	T	0.26	.	6.7802	0.23642	0.7892:0.0:0.0766:0.1342	.	104	Q8WWQ8	STAB2_HUMAN	H	104	ENSP00000373539:R104H	ENSP00000373539:R104H	R	+	2	0	STAB2	102512398	0.989000	0.36119	0.996000	0.52242	0.629000	0.37895	2.169000	0.42434	1.109000	0.41680	-0.383000	0.06682	CGC		0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	0			12:103988268
OR52I1	390037	broad.mit.edu	37	11	4615445	4615445	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:4615445G>A	ENST00000530443.2	+	1	177	c.177G>A	c.(175-177)cgG>cgA	p.R59R	OR52I1_ENST00000450052.2_Silent_p.R83R	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCCACTCGGCATGAGCCCA	0.517																																						ENST00000450052.2		NA																	0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(247-249)cgG>cgA		olfactory receptor, family 52, subfamily I, member 1							165.0	143.0	150.0					11																	4615445		2201	4298	6499	SO:0001819	synonymous_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615445G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.177G>A	11.37:g.4615445G>A		False	False		Somatic	0				OR52I1_ENST00000530443.2_Silent_p.R59R	p.R83R			WXS	Illumina HiSeq	Phase_I	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	249	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	59					Q6IF91	Silent	SNP	ENST00000530443.2	37	c.249G>A	CCDS59223.1																																																																																				0.517	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	0	NM_001005169		11:4615445
ATP10A	57194	broad.mit.edu	37	15	25947218	25947218	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:25947218C>G	ENST00000356865.6	-	13	2716	c.2605G>C	c.(2605-2607)Gac>Cac	p.D869H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	869					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGACTCCGTCCTGCAGGCGG	0.527																																						ENST00000356865.6		NA																	0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2605-2607)Gac>Cac		ATPase, class V, type 10A							94.0	92.0	93.0					15																	25947218		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25947218C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2605G>C	15.37:g.25947218C>G	ENSP00000349325:p.Asp869His	False	False		Somatic	0					p.D869H	NM_024490.3	NP_077816.1	WXS	Illumina HiSeq	Phase_I	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	13	2716	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	869					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2605G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783540	0.90282	.	.	ENSG00000206190	ENST00000356865	T	0.68025	-0.3	5.31	5.31	0.75309	HAD-like domain (2);	0.273464	0.45867	D	0.000325	D	0.83422	0.5251	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	D	0.64877	0.93	D	0.86242	0.1644	10	0.87932	D	0	-8.5174	18.9799	0.92751	0.0:1.0:0.0:0.0	.	869	O60312	AT10A_HUMAN	H	869	ENSP00000349325:D869H	ENSP00000349325:D869H	D	-	1	0	ATP10A	23498311	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	7.561000	0.82288	2.485000	0.83878	0.561000	0.74099	GAC		0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	0	NM_024490		15:25947218
