#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	7.600000e-01	1	8.000000e-01	0.850000	0.880003	0.850000	0.840000																									ETV6/ITPR2(2)	0				125						c.(1618-1620)gatfs		inositol 1,4,5-trisphosphate receptor, type 2	Caffeine(DB00201)																																			SO:0001589	frameshift_variant	3709	0	0					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	chr12.hg19:g.26816711_26816712delAT	ENSP00000370744:p.Asp540fs	1						p.D540fs	NM_002223.2	NP_002214.2	0	2	2	1.831904	Q14571	ITPR2_HUMAN		15	2035_2036	-	Colorectal(261;0.0847)		O94773	Frame_Shift_Del	DEL	ENST00000381340.3	1	1	hg19	c.1619_1620delAT	CCDS41764.1	1																																																																																								0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.460	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	1	0	1		2	2		0	0	0	0	306	0	306	302	1	1.800000	-20.000000	1	0.570000	NM_002223		0	379	386	0	1196	1184	0	0	1	0		0	0	306	0	0	1.000000	1.463883e-01		0	0	3	0	379	1196
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		Valid	Somatic	Phase_I	WXS	targeted			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_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000420246.2_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)	ENST00000269305.4	0.520000	2.100000e-01	4.400000e-01	2.800000e-01	0.350000	0.365529	0.350000	0.350000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	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)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-669)tatgagccgcctfs	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)																																			SO:0001589	frameshift_variant	7157	0	0		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;	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	chr17.hg19:g.7578180_7578190delAGGCGGCTCAT	ENSP00000269305:p.Tyr220fs	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs	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	0	1	1	1.568350	P04637	P53_HUMAN		6	848_858	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	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	0	1	hg19	c.659_669delATGAGCCGCCT	CCDS11118.1	0																																																																																								0.398601		TCGA-F2-A8YN-01A-11D-A377-08	0.550	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		15	2	2	0	0	0	1	33	0	33	33	1	1.800000	-20.000000	1	0.570000	NM_000546		0	17	28	0	103	114	0	0	1	0	1	0	0	33	874	0	0.853362	4.418144e-01	1	0	204	10	671	17	103
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	2.000000e-02	1.100000e-01	4.000000e-02	0.070000	0.104601	0.070000	0.060000																										0				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	0	0					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	chr10.hg19:g.113932067G>A	ENSP00000265276:p.Pro223Ser	0					GPAM_ENST00000423155.1_Missense_Mutation_p.P223S|GPAM_ENST00000369425.1_Missense_Mutation_p.P223S	p.P223S			1	2	3	2.160328	Q9HCL2	GPAT1_HUMAN		9	864	-			Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	0	1	hg19	c.667C>T	CCDS7570.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	GPAM	113922057	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	0.574847		TCGA-F2-A8YN-01A-11D-A377-08	0.383	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	0	0	1	2	2	2	2	0	0	0	0	67	67	67	66	1	1.800000	-2.943335	1	0.570000	NM_020918		0	5	5	0	265	262	0		1	0		0	0	67	0	0	0.936269	1.663804e-03	0	0	0	3	0	5	265
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C|CHST15_ENST00000462406.1_5'Flank	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	0.090000	0	6.000000e-02	1.000000e-02	0.030000	0.052544	0.030000	0.040000																										0				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	10	121412	43				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	chr10.hg19:g.125805512G>A	ENSP00000333947:p.Arg73Cys	0					CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C|CHST15_ENST00000462406.1_5'Flank	p.R73C	NM_015892.4	NP_056976.2	1	2	3	2.145887	Q7LFX5	CHSTF_HUMAN		2	859	-			O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	0	1	hg19	c.217C>T	CCDS7638.1	0	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	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	0	CHST15	125795502	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	0.572437		TCGA-F2-A8YN-01A-11D-A377-08	0.453	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	0	0	1	2	2	2	2	0	0	0	0	101	101	101	101	1	1.800000	-2.460406	0	0.570000	NM_015892		0	5	5	0	479	467	0		1	0		0	0	101	0	0	0.933630	1.286366e-01	0	0	0	49	0	5	479
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								Untested	Somatic	Phase_I	WXS	none			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	0.190000	2.000000e-02	1.200000e-01	4.000000e-02	0.070000	0.094266	0.070000	0.070000																										0				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	3	118850	37				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	chr10.hg19:g.134884542G>A	ENSP00000475778:p.Arg37Gln	0						p.R37Q			1	2	3	2.145887	Q86SQ6	GP123_HUMAN		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)	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000607359.1	0	1	hg19	c.110G>A		0	.	.	.	.	.	.	.	.	.	.	G	1.282	-0.610161	0.03690	3.2E-4	0.0	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.69	-3.13	0.05266	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	0	GPR123	134734532	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	0.572437		TCGA-F2-A8YN-01A-11D-A377-08	0.657	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2	0	0	1	2	2	2	2	0	0	0	0	21	21	21	20	1	1.800000	-5.691391	1	0.570000			0	4	4	0	200	198	0		1			0	0	21	0	0	0.888885	0	0	0	0	0	0	4	200
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								Untested	Somatic	Phase_I	WXS	none			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	0.790000	5.000000e-01	7.200000e-01	5.600000e-01	0.630000	0.645377	0.630000	0.640000																										0				38						c.(1153-1155)acA>acG		synaptotagmin IX							112.0	104.0	106.0					11																	7437383		2201	4296	6497	SO:0001819	synonymous_variant	143425	0	0					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	chr11.hg19:g.7437383A>G		0						p.T385T	NM_175733.3	NP_783860.1	1	2	3	2.130168	Q86SS6	SYT9_HUMAN		4	1392	+				Silent	SNP	ENST00000318881.6	1	1	hg19	c.1155A>G	CCDS7778.1	0																																																																																								0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.408	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	1	0	1	2	2	2	2	0	0	0	0	82	82	82	82	1	1.800000	-20.000000	1	0.570000	NM_175733		0	67	66	0	301	300	1		1			0	0	82	0	0	1.000000	0	0	0	0	0	0	67	301
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								Untested	Somatic	Phase_I	WXS	none			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	0.090000	0	6.000000e-02	1.000000e-02	0.030000	0.042593	0.030000	0.040000																										0				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	0	0					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	chr11.hg19:g.9187392G>A		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	1	2	3	2.130168	Q6IQ26	DEN5A_HUMAN		11	2594	-			B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	0	1	hg19	c.2274C>T	CCDS31423.1	0																																																																																								0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	0	0	1	2	2	2	2	0	0	0	0	72	72	72	71	1	1.800000	-1.755958	0	0.570000	NM_015213		0	5	6	0	484	479	0		1	0		0	0	72	0	0	0.936144	8.364080e-02	0	0	0	38	0	5	484
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								Untested	Somatic	Phase_I	WXS	none			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	0.060000	0	4.000000e-02	0	0.020000	0.028207	0.020000	0.020000																										1	Substitution - coding silent(1)	p.C858C(1)	large_intestine(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	0	0					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	chr11.hg19:g.27389696G>A		0					LGR4_ENST00000389858.4_Silent_p.C834C	p.C858C	NM_018490.2	NP_060960.2	1	2	3	2.130168	Q9BXB1	LGR4_HUMAN		18	3017	-			A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	0	1	hg19	c.2574C>T	CCDS31449.1	0																																																																																								0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.458	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	0	0	1	2	2	2	2	0	0	0	0	196	196	196	194	1	1.800000	-2.033128	0	0.570000	NM_018490		0	6	6	0	830	822	0		1	0		0	0	196	0	0	0.963846	1.078171e-01	0	0	0	65	0	6	830
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR|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	0.100000	0	7.000000e-02	2.000000e-02	0.040000	0.048266	0.040000	0.040000																										0				28						c.(211-213)gCc>gTc		solute carrier family 22, member 10	Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)						108.0	115.0	113.0					11																	63057849		2201	4298	6499	SO:0001583	missense	387775	1	121408	38				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	chr11.hg19:g.63057849C>T	ENSP00000327569:p.Ala71Val	0					SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	p.A71V	NM_001039752.3	NP_001034841.3	1	2	3	2.130168	Q63ZE4	S22AA_HUMAN		1	214	+			Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	0	1	hg19	c.212C>T	CCDS41661.1	0	.	.	.	.	.	.	.	.	.	.	C	5.138	0.211114	0.09757	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.66815	2.48;-0.23	2.89	-0.723	0.11181	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	0	SLC22A10	62814425	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	0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.493	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	0	0	1	2	2	2	2	0	0	0	0	83	83	83	82	1	1.800000	-2.287875	0	0.570000	NM_001039752		0	5	5	0	428	424	0		1			0	0	83	0	0	0.936349	0	0	0	0	0	0	5	428
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								Untested	Somatic	Phase_I	WXS	none			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	GPR137_ENST00000539851.1_Silent_p.A17A|GPR137_ENST00000411458.1_Silent_p.A75A|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000377702.4_Silent_p.A17A|BAD_ENST00000394531.3_5'Flank|BAD_ENST00000394532.3_5'Flank|BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000438980.2_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																																						ENST00000313074.3	0.110000	0	8.000000e-02	2.000000e-02	0.040000	0.054217	0.040000	0.040000																										0				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	0	0					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	chr11.hg19:g.64054047G>C		0					GPR137_ENST00000438980.2_Silent_p.A17A|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Silent_p.A75A|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Silent_p.A17A|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000539851.1_Silent_p.A17A	p.A17A	NM_020155.3	NP_064540.3	1	2	3	2.130168	Q96N19	G137A_HUMAN		1	156	+			B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	ENST00000313074.3	0	1	hg19	c.51G>C	CCDS8066.1	0																																																																																								0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.632	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	0	0	1	2	2	2	2	0	0	0	0	55	55	55	53	1	1.800000	-3.148492	1	0.570000	NM_020155		0	5	5	0	381	378	0		1	0		0	0	55	0	0	0.936642	1.801997e-01	0	0	0	49	0	5	381
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	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			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																																						ENST00000524567.1	1.000000	8.700000e-01	1	9.300000e-01	0.990000	0.978987	0.990000	1.000000																										0				12						c.(52-54)gGg>gAg		transmembrane protein 45B							124.0	109.0	115.0					11																	129722430		2201	4297	6498	SO:0001583	missense	120224	0	0					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	chr11.hg19:g.129722430G>A	ENSP00000436293:p.Gly18Glu	0					TMEM45B_ENST00000281441.3_Missense_Mutation_p.G18E	p.G18E			0	0	0	2.115968	Q96B21	TM45B_HUMAN		2	334	+	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)	A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	1	1	hg19	c.53G>A	CCDS8482.1	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	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	0	TMEM45B	129227640	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.507	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	1	0	1	2	2	2	2	0	0	0	0	68	68	68	68	1	1.800000	-9.143872	1	0.570000	NM_138788		0	146	145	0	359	354	1		1	1		0	0	68	0	0	1.000000	1	0	80	0	127	0	146	359
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	9.000000e-02	1	1.400000e-01	0.190000	0.371560	0.190000	0.180000																										0				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	0	0					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	chr12.hg19:g.10959184C>T	ENSP00000240615:p.Trp132*	1						p.W132*	NM_023918.1	NP_076407.1	0	2	2	1.831904	Q9NYW2	TA2R8_HUMAN		1	708	-			Q4KN29|Q645Y2	Nonsense_Mutation	SNP	ENST00000240615.2	0	1	hg19	c.396G>A	CCDS8632.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.342008	0.95783	.	.	ENSG00000121314	ENST00000240615	.	.	.	4.47	0.811	0.18739	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	0	TAS2R8	10850451	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.413	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1	1	0	1	2	2	2	2	0	0	0	0	111	111	111	110	1	1.800000	-14.456550	1	0.570000			0	12	12	0	227	226	0		1			0	0	111	0	0	0.999164	0	0	0	0	0	0	12	227
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								Untested	Somatic	Phase_I	WXS	none			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																																						ENST00000609686.1	1.000000	4.000000e-02	1	8.000000e-02	0.130000	0.323603	0.130000	0.110000																										0				143						c.(3394-3396)tTc>tAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	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)						94.0	86.0	89.0					12																	13716777		2203	4300	6503	SO:0001583	missense	2904	0	0					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	chr12.hg19:g.13716777A>T	ENSP00000477455:p.Phe1132Tyr	1						p.F1132Y	NM_000834.3	NP_000825.2	0	2	2	1.831904	Q13224	NMDE2_HUMAN		13	3604	-			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	0	1	hg19	c.3395T>A	CCDS8662.1	0	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671252	0.67814	.	.	ENSG00000150086	ENST00000279593	T	0.20463	2.07	5.52	5.52	0.82312	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	0	GRIN2B	13608044	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.597	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	0	0	1	2	2	2	2	0	0	0	0	35	35	35	35	1	1.800000	-8.555849	1	0.570000			0	6	6	0	185	183	0		1			0	0	35	0	0	0.964562	0	0	0	0	0	0	6	185
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	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			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_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_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)	ENST00000256078.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999472	0.990000	1.000000	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			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	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)	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	0	0		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	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	chr12.hg19:g.25398285C>G	ENSP00000256078:p.Gly12Arg	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	p.G12R	NM_033360.2	NP_203524.1	0	2	2	1.831904	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	97	-	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)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.34G>C	CCDS8703.1	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	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	0	KRAS	25289552	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	53	53	53	53	1	1.800000	-20.000000	1	0.570000	NM_033360		2839	72	69	5174	132	131	1	1	1	1	1	0	0	53	309	1	1.000000	9.999185e-01	1	26	76	4	171	72	132
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								Untested	Somatic	Phase_I	WXS	none			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	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S|RP11-61E11.1_ENST00000547750.1_RNA	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	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999983	0.990000	1.000000																										0				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	0	0					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	chr12.hg19:g.105464556G>A	ENSP00000258494:p.Pro74Ser	1					RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S	p.P74S	NM_001034173.3	NP_001029345.2	0	2	2	1.832909	Q3SY69	AL1L2_HUMAN		3	360	-			Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	1	1	hg19	c.220C>T	CCDS31891.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.066278	0.93898	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.80738	-1.41;-1.41	5.48	5.48	0.80851	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	0	ALDH1L2	103988686	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.413	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	1	0	1	2	2	2	2	0	0	0	0	76	76	76	73	1	1.800000	-14.061870	1	0.570000	XM_090294		0	116	115	0	201	199	1		1	0		0	0	76	0	0	1.000000	3.054641e-01	0	0	0	3	0	116	201
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								Untested	Somatic	Phase_I	WXS	none			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)	ENST00000381946.3	1.000000	7.800000e-01	1	8.500000e-01	0.930000	0.933399	0.930000	1.000000																										0				74						c.(28-30)tcC>tcT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide							60.0	63.0	62.0					13																	25255720		2203	4300	6503	SO:0001819	synonymous_variant	479	0	0					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	chr13.hg19:g.25255720C>T		0					ATP12A_ENST00000218548.6_Silent_p.S10S	p.S10S			0	0	0	2.106250	P54707	AT12A_HUMAN		2	197	+		Lung SC(185;0.0225)|Breast(139;0.077)	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	1	1	hg19	c.30C>T	CCDS31948.1	1																																																																																								0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.522	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	1	2	2	2	2	0	0	0	0	53	53	53	53	1	1.800000	-5.806668	1	0.570000	NM_001676		0	91	89	0	245	243	1		1		0	0	0	53	0	0	1.000000	0	0	0	0	0	1	91	245
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|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	1.000000	7.400000e-01	9.700000e-01	8.100000e-01	0.890000	0.894230	0.890000	1.000000																										0				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	0	0					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	chr13.hg19:g.38211315C>G	ENSP00000369027:p.Glu887Gln	0					TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q	p.E887Q			0	0	0	2.106250	Q9UBN4	TRPC4_HUMAN		11	3516	-			B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	1	1	hg19	c.2659G>C	CCDS9365.1	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	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	0	TRPC4	37109315	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.458	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	1	0	1	2	2	2	2	0	0	0	0	101	101	101	101	1	1.800000	-20.000000	1	0.570000	NM_003306		0	96	96	0	278	273	1		1	0		0	0	101	0	0	1.000000	1.652689e-01	0	0	0	3	0	96	278
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	7.000000e-01	1	7.900000e-01	0.900000	0.896669	0.900000	1.000000																										0				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	0	0					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	chr13.hg19:g.101736104G>A	ENSP00000251127:p.Arg1181*	0						p.R1181*	NM_052867.2	NP_443099.1	1	2	3	2.164290	Q8IZF0	NALCN_HUMAN		31	3622	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	0	1	hg19	c.3541C>T	CCDS9498.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.100694	0.99066	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.2	1.64	0.23874	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	2	NALCN	100534105	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	0.574847		TCGA-F2-A8YN-01A-11D-A377-08	0.512	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	1	2	2	2	2	0	0	0	0	29	29	29	29	1	1.800000	-4.672652	1	0.570000	NM_052867		0	54	52	0	159	155	1		1	0		0	0	29	0	0	1.000000	8.448390e-01	0	0	0	12	0	54	159
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								Untested	Somatic	Phase_I	WXS	none			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			0	0																														1	Substitution - Missense(1)	p.S82F(1)	large_intestine(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	0	0					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	chr14.hg19:g.19377838C>A	ENSP00000449002:p.Ser82Tyr							p.S82Y	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1					B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	1	317	+	all_cancers(95;0.00108)			Missense_Mutation	SNP	ENST00000550708.1	1	1	hg19	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	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	0	CR383656.1	18447838	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			TCGA-F2-A8YN-01A-11D-A377-08	0.423	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	1	0	1	2	10	2	2	2	2	2	2	181	181	181	346	1	1.800000	-6.986018	1	0.570000	NM_001013354		0	181	138	0	532	385	0		1			2	0	181	0	0	1.000000	0	0	0	0	0	0	181	532
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Silent_p.T375T|SLC22A17_ENST00000397260.3_Silent_p.T264T|SLC22A17_ENST00000397267.1_Silent_p.T375T	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																																						ENST00000206544.8	0.180000	2.000000e-02	1.300000e-01	4.000000e-02	0.080000	0.093399	0.080000	0.080000																										0				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	4	121412	36				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	chr14.hg19:g.23816760G>A		0					SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.T375T|SLC22A17_ENST00000354772.3_Silent_p.T375T|SLC22A17_ENST00000397260.3_Silent_p.T264T	p.T375T	NM_020372.2	NP_065105.2	0	0	0	2.124084	Q8WUG5	S22AH_HUMAN		7	1461	-	all_cancers(95;7.12e-06)		A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	0	1	hg19	c.1125C>T	CCDS9593.1	0																																																																																								0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.622	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	0	0	1	2	2	2	2	0	0	0	0	32	32	32	32	1	1.800000	-3.479808	1	0.570000	NM_020372		0	4	4	0	181	178	0		1	0		0	0	32	0	0	0.887395	1.146921e-01	0	0	0	21	0	4	181
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								Untested	Somatic	Phase_I	WXS	none			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	0.110000	1.000000e-02	8.000000e-02	3.000000e-02	0.050000	0.060654	0.050000	0.060000																										0				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	7	121008	39				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	chr14.hg19:g.24886290G>A	ENSP00000371994:p.Ala1779Thr	0						p.A1779T	NM_025081.2	NP_079357.2	0	0	0	2.124084	Q9P2P1	NYNRI_HUMAN		9	5653	+			Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	0	1	hg19	c.5335G>A	CCDS45090.1	0	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640226	0.67244	.	.	ENSG00000205978	ENST00000382554	T	0.10192	2.9	5.08	5.08	0.68730	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	0	NYNRIN	23956130	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	0	0	1	2	2	2	2	0	0	0	0	47	47	47	45	1	1.800000	-3.173342	1	0.570000			0	5	5	0	339	335	0		1	0		0	0	47	0	0	0.936051	4.515580e-01	0	0	0	92	0	5	339
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000298159.6_Silent_p.Y68Y|CFL2_ENST00000555765.1_Silent_p.Y51Y|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	0.090000	1.000000e-02	7.000000e-02	2.000000e-02	0.040000	0.050031	0.040000	0.040000																										0				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	0	0					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	chr14.hg19:g.35182567G>A		0					CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y	p.Y68Y	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	0	0	0	2.124084	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	2	355	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		G3V5P4	Silent	SNP	ENST00000341223.3	0	1	hg19	c.204C>T	CCDS9650.1	0																																																																																								0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.398	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	0	0	1	2	2	2	2	0	0	0	0	132	132	132	131	1	1.800000	-3.076856	1	0.570000	NM_138638		0	8	7	0	622	614	0		1	0		0	0	132	0	0	0.988792	1.784049e-02	0	0	0	14	0	8	622
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								Untested	Somatic	Phase_I	WXS	none			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	0.080000	0	6.000000e-02	1.000000e-02	0.030000	0.041673	0.030000	0.040000																										0				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	0	0					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	chr14.hg19:g.69256429G>A	ENSP00000388402:p.Arg280Trp	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	0	0	0	2.124084	Q07352	TISB_HUMAN		2	1139	-			Q13851	Missense_Mutation	SNP	ENST00000439696.2	0	1	hg19	c.838C>T	CCDS9791.1	0	.	.	.	.	.	.	.	.	.	.	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	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	2	ZFP36L1	68326182	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.632	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1	0	0	1	2	2	2	2	0	0	0	0	111	111	111	109	1	1.800000	-2.038417	0	0.570000			0	6	6	0	577	558	0		1	0		0	0	111	0	0	0.961376	9.637938e-01	0	1	0	576	0	6	577
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								Untested	Somatic	Phase_I	WXS	none			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	0.210000	7.000000e-02	1.800000e-01	1.000000e-01	0.130000	0.145005	0.130000	0.140000																										0				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	1	121412	31				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	chr15.hg19:g.25947218C>G	ENSP00000349325:p.Asp869His	0						p.D869H	NM_024490.3	NP_077816.1	0	0	0	1.960555	O60312	AT10A_HUMAN		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)	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	1	1	hg19	c.2605G>C	CCDS32178.1	0	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783540	0.90282	.	.	ENSG00000206190	ENST00000356865	T	0.68025	-0.3	5.31	5.31	0.75309	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	0	ATP10A	23498311	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	0.535587		TCGA-F2-A8YN-01A-11D-A377-08	0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1	2	2	2	2	0	0	0	0	75	75	75	75	1	1.800000	-16.394990	1	0.570000	NM_024490		0	16	15	0	362	359	0		1	0		0	0	75	0	0	0.999931	9.963460e-02	0	0	0	12	0	16	362
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								Untested	Somatic	Phase_I	WXS	none			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	0.570000	2.900000e-01	5.000000e-01	3.500000e-01	0.420000	0.431073	0.420000	0.420000																										0				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	0	0					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	chr15.hg19:g.53081647C>T		1					ONECUT1_ENST00000561401.2_Intron	p.V145V	NM_004498.2	NP_004489.1	0	1	1	1.661031	Q9UBC0	HNF6_HUMAN		1	562	-			B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	1	1	hg19	c.435G>A	CCDS10150.1	0																																																																																								0.468512		TCGA-F2-A8YN-01A-11D-A377-08	0.642	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2	1	0	1	2	2	2	2	0	0	0	0	41	41	41	41	1	1.800000	-20.000000	1	0.570000			0	30	30	0	171	170	0		1	0		0	0	41	0	0	1.000000	0	0	0	0	1	0	30	171
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	8.100000e-01	1	8.900000e-01	0.960000	0.954535	0.960000	1.000000																										2	Substitution - Nonsense(2)	p.G922*(2)	lung(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	1	120858	35				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	chr15.hg19:g.64025227C>T	ENSP00000390158:p.Gly922Arg	1						p.G922R	NM_003922.3	NP_003913.3	0	1	1	1.661031	Q15751	HERC1_HUMAN		14	2851	-			Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	1	1	hg19	c.2764G>A	CCDS45277.1	1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217516	0.58560	.	.	ENSG00000103657	ENST00000443617	T	0.22743	1.94	5.67	5.67	0.87782	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	0	HERC1	61812280	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	0.468512		TCGA-F2-A8YN-01A-11D-A377-08	0.458	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	2	2	2	2	0	0	0	0	41	41	41	41	1	1.800000	-10.217710	1	0.570000	NM_003922		0	94	92	0	179	177	1		1	0		0	0	41	0	0	1.000000	0	0	0	0	1	0	94	179
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								Untested	Somatic	Phase_I	WXS	none			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	0.300000	1.400000e-01	2.500000e-01	1.700000e-01	0.200000	0.215543	0.200000	0.210000																										0				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	0	0					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	chr16.hg19:g.24580170G>T	ENSP00000317872:p.Ser720Ile	0					RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I	p.S720I	NM_006910.4	NP_008841.2	1	2	3	2.132556	Q7Z6E9	RBBP6_HUMAN		17	2591	+			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	1	1	hg19	c.2159G>T	CCDS10621.1	0	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497395	0.44455	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.25414	1.95;1.8	5.98	5.98	0.97165	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	0	RBBP6	24487671	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	0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.438	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	1	0	1	2	2	2	2	0	0	0	0	91	91	91	90	1	1.800000	-3.075742	1	0.570000	NM_006910		0	29	29	0	458	454	0		1	0		0	0	91	0	0	1.000000	1.448108e-01	0	0	0	11	0	29	458
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	7.400000e-01	9.400000e-01	8.000000e-01	0.860000	0.874520	0.860000	0.870000																										0				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	2	120994	36				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	chr16.hg19:g.67333359G>A	ENSP00000305702:p.Pro298Leu	0					KCTD19_ENST00000562860.1_5'UTR	p.P298L	NM_001100915.1	NP_001094385.1	1	2	3	2.128165	Q17RG1	KCD19_HUMAN		6	948	-		Ovarian(137;0.192)	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	1	1	hg19	c.893C>T	CCDS42179.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044864	0.93685	.	.	ENSG00000168676	ENST00000304372	T	0.63913	-0.07	5.77	5.77	0.91146	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	0	KCTD19	65890860	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	0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.622	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	0	0	1	2	22	2	2	1	1	1	1	81	81	81	78	1	1.800000	-5.025225	1	0.570000	XM_085367		0	137	134	0	415	409	1		1			1	0	81	0	0	1.000000	0	0	0	0	0	0	137	415
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000538248.1_Missense_Mutation_p.A699E|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E	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	1.000000	8.700000e-01	1	9.500000e-01	0.990000	0.984429	0.990000	1.000000																										3	Substitution - Missense(3)	p.A672E(3)	large_intestine(3)	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	0	0					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	chr16.hg19:g.71101253G>T	ENSP00000377197:p.Ala672Glu	0					HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E	p.A672E	NM_001270974.1	NP_001257903.1	1	2	3	2.128165	Q4G0P3	HYDIN_HUMAN		15	2165	-		Ovarian(137;0.0654)	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	1	1	hg19	c.2015C>A	CCDS59269.1	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	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	0|0	HYDIN|HYDIN	69658754|69658754	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	0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	1	0	0	2	2	2	2	0	0	0	0	42	42	42	42	1	1.800000	-20.000000	1	0.570000			0	96	94	0	226	222	1		1			0	0	42	0	0	1.000000	0	0	0	0	0	0	96	226
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	8.700000e-01	9.900000e-01	9.100000e-01	0.960000	0.958698	0.960000	0.990000																										0				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	5	121412	43				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	chr17.hg19:g.10209864G>A	ENSP00000404570:p.Thr1793Met	1					RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M	p.T1793M			0	1	1	1.568350	Q9UKX3	MYH13_HUMAN		36	5541	-			O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	1	1	hg19	c.5378C>T	CCDS45613.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779373	0.70107	.	.	ENSG00000006788	ENST00000252172	T	0.78246	-1.16	4.22	4.22	0.49857	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	0	MYH13	10150589	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	0.398601		TCGA-F2-A8YN-01A-11D-A377-08	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	1	0	1	2	2	2	2	0	0	0	0	101	101	101	100	1	1.800000	-20.000000	1	0.570000	NM_003802		0	210	207	0	318	312	1		1			0	0	101	0	0	1.000000	0	0	0	0	0	0	210	318
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								Untested	Somatic	Phase_I	WXS	none			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	0.710000	4.400000e-01	6.500000e-01	5.000000e-01	0.570000	0.580567	0.570000	0.580000																										0				70						c.(796-798)tCg>tTg		potassium inwardly-rectifying channel, subfamily J, member 12	Dofetilide(DB00204)|Yohimbine(DB01392)	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	14	121412	37				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	chr17.hg19:g.21319451C>T	ENSP00000463778:p.Ser266Leu	1	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L	p.S266L	NM_021012.4	NP_066292.2	0	1	1	1.564479	Q14500	KCJ12_HUMAN		3	1692	+			O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	1	1	hg19	c.797C>T	CCDS11219.1	0	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	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	0	KCNJ12	21260044	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	0.403358		TCGA-F2-A8YN-01A-11D-A377-08	0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	0	1	2	2	2	2	0	0	0	0	57	57	57	56	1	1.800000	-20.000000	1	0.570000	NM_021012		0	51	50	0	172	161	0		1	0		0	0	57	0	0	1.000000	5.372110e-02	0	0	0	2	0	51	172
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								Untested	Somatic	Phase_I	WXS	none			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	0.190000	2.000000e-02	1.400000e-01	5.000000e-02	0.080000	0.101528	0.080000	0.080000																										0				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	0	0					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	chr17.hg19:g.3936124G>A	ENSP00000371051:p.Gln2253*	1						p.Q2253*	NM_015113.3	NP_055928.3	0	1	1	1.568350	O43149	ZZEF1_HUMAN		41	6881	-			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	0	1	hg19	c.6757C>T	CCDS11043.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.573202	0.97676	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.39	4.34	0.51931	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	0	ZZEF1	3882873	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	0.398601		TCGA-F2-A8YN-01A-11D-A377-08	0.537	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	0	0	1	2	2	2	2	0	0	0	0	19	19	19	17	1	1.800000	-2.960540	1	0.570000	NM_015113		0	4	4	0	116	114	0		1	0		0	0	19	0	0	0.887646	9.155342e-02	0	0	0	12	0	4	116
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	8.900000e-01	1	9.300000e-01	0.970000	0.969975	0.970000	0.990000																										0				16						c.(805-807)Cag>Tag		keratin 26							229.0	201.0	211.0					17																	38926251		2203	4300	6503	SO:0001587	stop_gained	353288	0	0					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	chr17.hg19:g.38926251G>A	ENSP00000334798:p.Gln269*	1						p.Q269*	NM_181539.4	NP_853517.2	0	1	1	1.563752				4	853	-		Breast(137;0.00526)		Nonsense_Mutation	SNP	ENST00000335552.4	0	1	hg19	c.805C>T	CCDS11374.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886500	0.91814	.	.	ENSG00000186393	ENST00000335552	.	.	.	5.0	4.01	0.46588	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	0	KRT26	36179777	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	0.398601		TCGA-F2-A8YN-01A-11D-A377-08	0.522	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	1	0	1	2	2	2	2	0	0	0	0	184	184	184	183	1	1.800000	-20.000000	1	0.570000	NM_181539		0	237	237	0	343	337	0		1			0	0	184	0	0	1.000000	0	0	0	0	0	0	237	343
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000544660.1_Missense_Mutation_p.K360R|NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000525037.1_3'UTR	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			0	0																														0				27						c.(1318-1320)aAa>aGa		aminopeptidase puromycin sensitive							156.0	90.0	112.0					17																	45669380		1976	4119	6095	SO:0001583	missense	9520	48	120856	34				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	chr17.hg19:g.45669380A>G	ENSP00000320324:p.Lys440Arg						NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R	p.K440R	NM_006310.3	NP_006301.3					P55786	PSA_HUMAN		11	1556	+			B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	0	1	hg19	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	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	0	NPEPPS	43024379	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			TCGA-F2-A8YN-01A-11D-A377-08	0.378	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	0	0	1	2	11	3	2	1	1	1	1	34	34	34	46	1	1.800000	-2.624685	1	0.570000	NM_006310		0	26	17	0	146	115	0		1	0		1	0	34	0	0	0.976139	4.983010e-01	0	1	0	16	0	26	146
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Silent_p.P320P	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	0.210000	4.000000e-02	1.600000e-01	7.000000e-02	0.110000	0.121738	0.110000	0.110000																										0				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	0	0					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	chr17.hg19:g.48191617G>T		1					SAMD14_ENST00000503131.1_Silent_p.P320P|SAMD14_ENST00000503734.1_5'Flank	p.P292P	NM_001257359.1	NP_001244288.1	0	1	1	1.558390	Q8IZD0	SAM14_HUMAN		8	1193	-			A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	1	1	hg19	c.876C>A	CCDS58562.1	0																																																																																								0.400989		TCGA-F2-A8YN-01A-11D-A377-08	0.597	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	1	0	1	2	2	2	2	0	0	0	0	28	28	28	27	1	1.800000	-3.276866	1	0.570000	NM_174920		0	7	7	0	155	153	0		1	0		0	0	28	0	0	0.980479	3.395714e-02	0	0	0	6	0	7	155
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000317931.7_Missense_Mutation_p.R507Q|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q	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	0.310000	1.100000e-01	2.500000e-01	1.500000e-01	0.190000	0.208123	0.190000	0.190000																										0				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	5	121118	40				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	chr18.hg19:g.5969486C>T	ENSP00000284898:p.Arg516Gln	0					L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q	p.R516Q	NM_173464.3	NP_775735.2	1	2	3	2.144104	Q8NA19	LMBL4_HUMAN		18	1747	-		Colorectal(10;0.0249)	A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	1	1	hg19	c.1547G>A	CCDS11839.2	0	.	.	.	.	.	.	.	.	.	.	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	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	0	L3MBTL4	5959486	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	0.572437		TCGA-F2-A8YN-01A-11D-A377-08	0.607	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	1	0	1	2	2	2	2	0	0	0	0	39	39	39	37	1	1.800000	-2.403998	0	0.570000	NM_173464		0	18	18	0	314	311	0		1			0	0	39	0	0	0.999982	0	0	0	0	0	0	18	314
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	7.500000e-01	1	8.300000e-01	0.930000	0.923825	0.930000	1.000000																										0				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	18	121006	44				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	chr19.hg19:g.17010311C>T	ENSP00000402505:p.Arg1655His	0					CPAMD8_ENST00000597335.1_5'Flank	p.R1655H	NM_015692.2	NP_056507.2	1	2	3	2.129852	Q8IZJ3	CPMD8_HUMAN		37	4995	-			Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	1	1	hg19	c.4964G>A	CCDS42519.1	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	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	0|0	CPAMD8|CPAMD8	16871311|16871311	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	0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1	2	2	2	2	0	0	0	0	31	31	31	31	1	1.800000	-3.076006	1	0.570000	NM_015692		0	71	71	0	196	193	1		1	0		0	0	31	0	0	1.000000	0	0	0	0	1	0	71	196
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999392	0.990000	1.000000																										0				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	7	120904	43				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	chr19.hg19:g.17057923C>T	ENSP00000402505:p.Val922Ile	0						p.V922I	NM_015692.2	NP_056507.2	1	2	3	2.129852	Q8IZJ3	CPMD8_HUMAN		21	2795	-			Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	1	1	hg19	c.2764G>A	CCDS42519.1	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	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	0	CPAMD8	16918923	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	0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1	2	2	2	2	0	0	0	0	95	95	95	92	1	1.800000	-20.000000	1	0.570000	NM_015692		0	239	230	0	517	508	1		1			0	0	95	0	0	1.000000	0	0	0	0	0	0	239	517
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								Untested	Somatic	Phase_I	WXS	none			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	0.070000	0	5.000000e-02	1.000000e-02	0.020000	0.031809	0.020000	0.020000																										0				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	0	0					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	chr19.hg19:g.30935392C>T	ENSP00000347730:p.Ala308Val	0						p.A308V	NM_014717.1	NP_055532.1	1	2	3	2.129852	O15090	ZN536_HUMAN		2	1070	+	Esophageal squamous(110;0.0834)		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	0	1	hg19	c.923C>T	CCDS32984.1	0	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675111	0.47781	.	.	ENSG00000198597	ENST00000355537	T	0.29142	1.58	5.59	5.59	0.84812	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	0	ZNF536	35627232	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	0.571222		TCGA-F2-A8YN-01A-11D-A377-08	0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	0	0	1	2	2	2	2	0	0	0	0	104	104	104	102	1	1.800000	-2.504271	1	0.570000	NM_014717		0	5	5	0	640	632	0		1			0	0	104	0	0	0.935689	0	0	0	0	0	0	5	640
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								Untested	Somatic	Phase_I	WXS	none			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			0	0																														0				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	1	121358	36				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	chr19.hg19:g.41383142G>A	ENSP00000301146:p.Arg372Cys						CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C	p.R372C	NM_000764.2	NP_000755.2					P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	7	1655	-			Q13121	Missense_Mutation	SNP	ENST00000301146.4	1	1	hg19	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	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	0	CYP2A7	46074982	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			TCGA-F2-A8YN-01A-11D-A377-08	0.547	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	1	0	1	2	2	2	2	0	0	0	0	80	80	80	79	1	1.800000	-6.298770	1	0.570000	NM_030589		0	119	117	0	316	309	1		1			0	0	80	0	0	1.000000	0	0	0	0	0	0	119	316
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000393276.3_Missense_Mutation_p.R788H|DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|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	0.140000	1.000000e-02	1.000000e-01	3.000000e-02	0.050000	0.075758	0.050000	0.060000																										0				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	1	121412	33				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	chr1.hg19:g.115130471C>T	ENSP00000376955:p.Arg845His	0					DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H	p.R845H	NM_001256404.1	NP_001243333.1	1	2	3	2.150538	Q68D51	DEN2C_HUMAN		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)	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	0	1	hg19	c.2534G>A	CCDS58018.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	DENND2C	114931994	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	0.572437		TCGA-F2-A8YN-01A-11D-A377-08	0.478	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	0	0	0	2	2	2	2	0	0	0	0	51	51	51	50	1	1.800000	-5.237607	1	0.570000	NM_198459		0	5	4	0	310	304	0		1	0		0	0	51	0	0	0.934271	4.166419e-04	0	0	0	2	0	5	310
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								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210420C>T	ENST00000327247.5	-	3	348		c.e3+1		GBA_ENST00000428024.3_Intron|GBA_ENST00000427500.3_Splice_Site|GBA_ENST00000493842.1_Splice_Site|GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000368373.3_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			0	0																														0				26	GRCh37	CS920754|CS982204	GBA	S	rs104886460	c.e3+1		glucosidase, beta, acid	Velaglucerase alfa(DB06720)						197.0	180.0	185.0					1																	155210420		2203	4300	6503	SO:0001630	splice_region_variant	2629	14	121412	43	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	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	chr1.hg19:g.155210420C>T							GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000427500.3_Splice_Site|GBA_ENST00000493842.1_Splice_Site|GBA_ENST00000428024.3_Intron|GBA_ENST00000368373.3_Splice_Site		NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1					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)		A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Splice_Site	SNP	ENST00000327247.5	0	1	hg19		CCDS1102.1		.	.	.	.	.	.	.	.	.	.	C	20.8	4.045608	0.75846	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928	.	.	.	3.62	3.62	0.41486	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	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	.			TCGA-F2-A8YN-01A-11D-A377-08	0.527	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	0	0	1	2	2	2	2	0	0	0	0	93	93	93	93	1	1.800000	-6.003074	1	0.570000	NM_000157	Intron	0	8	7	0	789	776	0		1	0		0	0	93	0	0	0.988600	0	0	0	0	1	0	8	789
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								Untested	Somatic	Phase_I	WXS	none			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																																						ENST00000342741.4	0.170000	4.000000e-02	1.400000e-01	6.000000e-02	0.090000	0.104919	0.090000	0.100000																										0				35						c.(1432-1434)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	0	0					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	chr1.hg19:g.155262971C>T	ENSP00000339933:p.Gly478Asp	0					PKLR_ENST00000392414.3_Missense_Mutation_p.G447D	p.G478D	NM_000298.5	NP_000289.1	0	0	0	2.108658	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	1471	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	0	1	hg19	c.1433G>A	CCDS1109.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	PKLR	153529595	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.607	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	0	0	1	2	2	2	2	0	0	0	0	59	59	59	59	1	1.800000	-3.495797	1	0.570000	NM_000298		0	10	9	0	353	349	0		1	0		0	0	59	0	0	0.996759	0	0	0	0	1	0	10	353
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	8.300000e-01	1	9.100000e-01	0.990000	0.967516	0.990000	1.000000																										0				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	0	0					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	chr1.hg19:g.155408246A>G		0					ASH1L_ENST00000392403.3_Silent_p.V1900V	p.V1900V			0	0	0	2.108658	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)		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	1	1	hg19	c.5700T>C		1																																																																																								0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	1	0	1	2	2	2	2	0	0	0	0	121	121	121	116	1	1.800000	-20.000000	1	0.570000	NM_018489		0	107	106	0	267	264	1		1	1		0	0	121	0	0	1.000000	7.158190e-01	0	6	0	2	0	107	267
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								Untested	Somatic	Phase_I	WXS	none			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																																						ENST00000361409.2	0.130000	4.000000e-02	1.100000e-01	5.000000e-02	0.070000	0.086847	0.070000	0.080000																										0				81						c.(1522-1524)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	0	0					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	chr1.hg19:g.156926239C>T	ENSP00000354644:p.Trp508*	0					ARHGEF11_ENST00000368194.3_Nonsense_Mutation_p.W548*	p.W508*	NM_014784.3	NP_055599.1	0	0	0	2.108658	O15085	ARHGB_HUMAN		18	2266	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		D3DVD0|Q5VY40|Q6PFW2	Nonsense_Mutation	SNP	ENST00000361409.2	0	1	hg19	c.1524G>A	CCDS1162.1	0	.	.	.	.	.	.	.	.	.	.	C	45	11.401996	0.99556	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	.	.	.	4.82	4.82	0.62117	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	0	ARHGEF11	155192863	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	0	0	1	2	2	2	2	0	0	0	0	93	93	93	93	1	1.800000	-2.714682	1	0.570000	NM_198236		0	15	15	0	625	619	0		1	0		0	0	93	0	0	0.999863	1.300840e-01	0	0	0	25	0	15	625
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								Untested	Somatic	Phase_I	WXS	none			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	0.320000	1.700000e-01	2.900000e-01	2.000000e-01	0.240000	0.249713	0.240000	0.240000																										0				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	0	0					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	chr1.hg19:g.158548759T>A	ENSP00000357132:p.Lys311*	0						p.K311*	NM_001004477.1	NP_001004477.1	0	0	0	2.108658	Q8NGY0	O10X1_HUMAN		1	930	-	all_hematologic(112;0.0378)		Q6IFR8	Nonsense_Mutation	SNP	ENST00000368150.1	0	1	hg19	c.931A>T	CCDS30900.1	0	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490702	0.44249	.	.	ENSG00000186400	ENST00000368150	.	.	.	4.5	3.29	0.37713	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	0	OR10X1	156815383	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.438	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	1	0	1	2	2	2	2	0	0	0	0	129	129	129	127	1	1.800000	-9.667746	1	0.570000	NM_001004477		0	42	41	0	556	548	0		1			0	0	129	0	0	1.000000	0	0	0	0	0	0	42	556
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								Untested	Somatic	Phase_I	WXS	none			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																																						ENST00000368147.4	0.140000	3.000000e-02	1.100000e-01	5.000000e-02	0.070000	0.087444	0.070000	0.080000																										0				307						c.(4651-4653)Cga>Tga		spectrin, alpha, erythrocytic 1							91.0	91.0	91.0					1																	158612287		1973	4162	6135	SO:0001587	stop_gained	6708	12	120858	41				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	chr1.hg19:g.158612287G>A	ENSP00000357129:p.Arg1551*	0						p.R1551*	NM_003126.2	NP_003117.2	0	0	0	2.108658	P02549	SPTA1_HUMAN		33	4831	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	0	1	hg19	c.4651C>T	CCDS41423.1	0	.	.	.	.	.	.	.	.	.	.	G	44	11.051605	0.99508	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.26	3.36	0.38483	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	2	SPTA1	156878911	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	0	1	2	2	2	2	0	0	0	0	79	79	79	79	1	1.800000	-2.727305	1	0.570000	NM_003126		0	11	10	0	465	463	0		1			0	0	79	0	0	0.998312	0	0	0	0	0	0	11	465
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	6.600000e-01	1	7.800000e-01	0.910000	0.899554	0.910000	1.000000																										0				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	4	121412	35				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	chr1.hg19:g.19181067G>A		0					RP13-279N23.2_ENST00000494072.3_3'UTR	p.I299I	NM_152232.2	NP_689418.2	1	2	3	2.195803	Q8TE23	TS1R2_HUMAN		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)	Q5TZ19	Silent	SNP	ENST00000375371.3	1	1	hg19	c.897C>T	CCDS187.1	1																																																																																								0.578411		TCGA-F2-A8YN-01A-11D-A377-08	0.642	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	1	0	1	2	2	2	2	0	0	0	0	27	27	27	27	1	1.800000	-20.000000	1	0.570000			0	33	31	0	97	96	1		1			0	0	27	0	0	1.000000	0	0	0	0	0	0	33	97
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000373150.4_Missense_Mutation_p.R193C|MAP7D1_ENST00000474796.1_3'UTR|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																																						ENST00000373151.2	1.000000	7.600000e-01	1	8.900000e-01	0.990000	0.963032	0.990000	1.000000																										0				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	0	0					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	chr1.hg19:g.36638181C>T	ENSP00000362244:p.Arg193Cys	0					MAP7D1_ENST00000316156.4_Missense_Mutation_p.R193C|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C	p.R193C	NM_018067.3	NP_060537.3	1	2	3	2.150538	Q3KQU3	MA7D1_HUMAN		4	793	+		Myeloproliferative disorder(586;0.0393)	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	1	1	hg19	c.577C>T	CCDS30673.1	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	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	0	MAP7D1	36410768	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	0.572437		TCGA-F2-A8YN-01A-11D-A377-08	0.627	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	1	0	1	2	2	2	2	0	0	0	0	14	14	14	14	1	1.800000	-20.000000	1	0.570000	NM_018067		0	34	34	0	81	79	1		1	1		0	0	14	0	0	1.000000	1	0	59	0	121	0	34	81
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								Untested	Somatic	Phase_I	WXS	none			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	0.140000	5.000000e-02	1.200000e-01	7.000000e-02	0.090000	0.107040	0.090000	0.100000																										2	Substitution - coding silent(2)	p.D180D(2)	large_intestine(2)	89						c.(538-540)gaC>gaT		glutamate receptor, ionotropic, kainate 3							259.0	247.0	251.0					1																	37346245		2203	4300	6503	SO:0001819	synonymous_variant	2899	2	121412	43				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	chr1.hg19:g.37346245G>A		0					GRIK3_ENST00000373093.4_Silent_p.D180D	p.D180D	NM_000831.3	NP_000822.2	1	2	3	2.150538	Q13003	GRIK3_HUMAN		3	556	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	1	1	hg19	c.540C>T	CCDS416.1	0																																																																																								0.572437		TCGA-F2-A8YN-01A-11D-A377-08	0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	0	0	1	2	2	2	2	0	0	0	0	127	127	127	122	1	1.800000	-2.721959	1	0.570000	NM_000831		0	31	30	0	1116	1096	0		1			0	0	127	0	0	1.000000	0	0	0	0	0	0	31	1116
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								Untested	Somatic	Phase_I	WXS	none			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	AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S|AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S|RP11-141A19.1_ENST00000456002.1_RNA	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	1.000000	4.900000e-01	1	6.500000e-01	0.840000	0.828232	0.840000	1.000000																										0				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	0	0					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	chr1.hg19:g.49511348G>A	ENSP00000360905:p.Pro168Ser	0					AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S|RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S	p.P168S	NM_032785.3	NP_116174.3	1	2	3	2.150538	Q5VU57	CBPC6_HUMAN		5	618	-			B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	1	1	hg19	c.502C>T	CCDS44137.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	AGBL4	49283935	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	0.572437		TCGA-F2-A8YN-01A-11D-A377-08	0.458	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	1	0	1	2	2	2	2	0	0	0	0	12	12	12	12	1	1.800000	-20.000000	1	0.570000	NM_032785		0	13	13	0	42	41	1		1	0		0	0	12	0	0	0.999720	0	0	0	0	1	0	13	42
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000370596.1_Silent_p.H539H|WDR63_ENST00000326813.8_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	1.000000	7.900000e-01	1	8.600000e-01	0.920000	0.929255	0.920000	1.000000																										0				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	1	121412	36				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	chr1.hg19:g.85575766C>T		0					WDR63_ENST00000326813.8_Silent_p.H539H|WDR63_ENST00000370596.1_Silent_p.H539H	p.H578H	NM_145172.3	NP_660155.2	1	2	3	2.150538	Q8IWG1	WDR63_HUMAN		16	1914	+			A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	1	1	hg19	c.1734C>T	CCDS702.1	1																																																																																								0.572437		TCGA-F2-A8YN-01A-11D-A377-08	0.388	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	1	0	1	2	2	2	2	0	0	0	0	89	89	89	89	1	1.800000	-20.000000	1	0.570000	NM_145172		0	137	136	0	381	379	1		1			0	0	89	0	0	1.000000	0	0	0	0	0	0	137	381
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000367940.2_Missense_Mutation_p.A686V|OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V	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	0.070000	0	5.000000e-02	1.000000e-02	0.030000	0.036814	0.030000	0.040000																										2	Substitution - Missense(2)	p.A685V(2)	lung(1)|prostate(1)	48						c.(2053-2055)gCc>gTc		olfactomedin-like 2B							267.0	245.0	252.0					1																	161953664		2203	4300	6503	SO:0001583	missense	25903	0	0					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	chr1.hg19:g.161953664G>A	ENSP00000294794:p.Ala685Val	0					OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V|OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V	p.A685V	NM_015441.1	NP_056256.1	0	0	0	2.108658	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)	8	2477	-	all_hematologic(112;0.156)		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	0	1	hg19	c.2054C>T	CCDS1236.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	OLFML2B	160220288	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.562	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	0	0	1	2	2	2	2	0	0	0	0	118	118	118	117	1	1.800000	-1.930734	0	0.570000	NM_015441		0	6	6	0	646	644	0		1	1		0	0	118	0	0	0.964760	5.403903e-01	0	2	0	177	0	6	646
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								Untested	Somatic	Phase_I	WXS	none			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	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_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	0.070000	0	5.000000e-02	1.000000e-02	0.020000	0.035383	0.020000	0.040000																										0				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	0	0					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	chr20.hg19:g.34241168G>A	ENSP00000363228:p.Pro693Ser	0					CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	0	0	0	2.121183	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)	3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	0	1	hg19	c.2077C>T	CCDS13261.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	RBM12	33704582	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	0	1	2	2	2	2	0	0	0	0	144	144	144	143	1	1.800000	-2.172839	0	0.570000	NM_006047		0	6	6	0	673	663	0		1	0		0	0	144	0	0	0.963443	1.181322e-01	0	0	0	56	0	6	673
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	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	9.500000e-01	1	9.900000e-01	0.990000	0.997016	0.990000	1.000000																										0				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	0	0					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	chr20.hg19:g.57613612T>A	ENSP00000348206:p.Asp37Val	0					SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V	p.D37V	NM_016045.2	NP_057129.2	0	0	0	2.121183	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)	2	288	-	all_lung(29;0.00711)		E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	1	1	hg19	c.110A>T	CCDS42893.1	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	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	0	SLMO2	57047007	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.478	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	1	0	1	2	2	2	2	0	0	0	0	114	114	114	111	1	1.800000	-20.000000	1	0.570000	NM_016045		0	212	206	0	479	471	1		1	1		0	0	114	0	0	1.000000	1	0	114	0	119	0	212	479
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								Untested	Somatic	Phase_I	WXS	none			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																																						ENST00000407587.2	1.000000	6.400000e-01	9.600000e-01	7.500000e-01	0.870000	0.862409	0.870000	1.000000																										0				146						c.(925-927)Gta>Tta		myosin XVIIIB							27.0	29.0	29.0					22																	26164808		1977	4151	6128	SO:0001583	missense	84700	0	0					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	chr22.hg19:g.26164808G>T	ENSP00000386096:p.Val309Leu	1					MYO18B_ENST00000335473.7_Missense_Mutation_p.V309L|MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L	p.V309L			0	1	1	1.563576	Q8IUG5	MY18B_HUMAN		4	1094	+			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	1	1	hg19	c.925G>T		1	.	.	.	.	.	.	.	.	.	.	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	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	0	MYO18B	24494808	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	0.400989		TCGA-F2-A8YN-01A-11D-A377-08	0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1	2	2	2	2	0	0	0	0	29	29	29	29	1	1.800000	-20.000000	1	0.570000	NM_032608		0	26	25	0	44	43	1		1			0	0	29	0	0	1.000000	0	0	0	0	0	0	26	44
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_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	1.000000	7.800000e-01	1	8.800000e-01	0.990000	0.954887	0.990000	1.000000																										0				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	0	0					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	chr22.hg19:g.29445400C>T	ENSP00000443824:p.Gln411*	0					ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311*	p.Q411*	NM_001206998.1	NP_001193927.1	1	2	3	2.178060	Q9ULT6	ZNRF3_HUMAN		8	1406	+			B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Nonsense_Mutation	SNP	ENST00000544604.2	0	1	hg19	c.1231C>T	CCDS56225.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.353092	0.95830	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	.	.	.	5.53	5.53	0.82687	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	0	ZNRF3	27775400	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	0.576041		TCGA-F2-A8YN-01A-11D-A377-08	0.682	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	1	0	1	2	2	2	2	0	0	0	0	32	32	32	31	1	1.800000	-20.000000	1	0.570000	XM_290972		0	56	55	0	145	143	0		1	1		0	0	32	0	0	1.000000	9.565555e-01	0	9	0	7	0	56	145
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								Untested	Somatic	Phase_I	WXS	none			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	0.120000	2.000000e-02	9.000000e-02	3.000000e-02	0.060000	0.068543	0.060000	0.060000																										1	Substitution - Missense(1)	p.R222H(1)	central_nervous_system(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	3	121412	34				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	chr22.hg19:g.31819348G>A	ENSP00000329715:p.Arg222His	1						p.R222H	NM_004147.3	NP_004138.1	0	1	1	1.569789	Q9Y295	DRG1_HUMAN		6	826	+			B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	0	1	hg19	c.665G>A	CCDS13897.1	0	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276534	0.80580	.	.	ENSG00000185721	ENST00000331457	T	0.37584	1.19	5.2	5.2	0.72013	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	0	DRG1	30149348	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	0.408040		TCGA-F2-A8YN-01A-11D-A377-08	0.478	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	0	0	1	2	2	2	2	0	0	0	0	67	67	67	68	1	1.800000	-3.322044	1	0.570000	NM_004147		0	7	7	0	287	281	0		1	0		0	0	67	0	0	0.979480	3.299076e-01	0	0	0	44	0	7	287
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000407260.4_Missense_Mutation_p.A434T|RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T|RANGAP1_ENST00000356244.3_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	1.000000	2.000000e-02	1.100000e-01	4.000000e-02	0.070000	0.122195	0.070000	0.070000																										0				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	0	0					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	chr22.hg19:g.41647029C>T	ENSP00000401470:p.Ala489Thr	0					RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T|RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T	p.A489T			1	2	3	2.193121	P46060	RAGP1_HUMAN		12	2934	-			Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	0	1	hg19	c.1465G>A	CCDS14012.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	RANGAP1	39976975	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	0.577229		TCGA-F2-A8YN-01A-11D-A377-08	0.557	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	0	0	1	2	2	2	2	0	0	0	0	46	46	46	45	1	1.800000	-3.147583	1	0.570000	NM_002883		0	7	7	0	352	348	0		1	1		0	0	46	0	0	0.980072	9.578875e-01	0	7	0	277	0	7	352
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								Untested	Somatic	Phase_I	WXS	none			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-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_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	0.270000	8.000000e-02	2.200000e-01	1.100000e-01	0.160000	0.172881	0.160000	0.160000																										0				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	1	120430	32				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	chr2.hg19:g.120005741C>T	ENSP00000346961:p.Arg327Cys	0					STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C	p.R327C	NM_182915.2	NP_878919.2	0	0	0	2.085772	Q658P3	STEA3_HUMAN		4	1483	+			A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	0	1	hg19	c.979C>T	CCDS2125.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	STEAP3	119722211	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	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.647	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	1	0	1	2	2	2	2	0	0	0	0	27	27	27	26	1	1.800000	-12.951570	1	0.570000	NM_018234		0	11	10	0	227	226	0		1	1		0	0	27	0	0	0.998333	7.258385e-01	0	4	0	50	0	11	227
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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	1.000000	8.600000e-01	1	9.300000e-01	0.990000	0.975124	0.990000	1.000000																										0				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	1	121404	41				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	chr2.hg19:g.128466262C>T	ENSP00000325377:p.Arg1257Gln	0						p.R1257Q	NM_018383.4	NP_060853.3	0	0	0	2.085772	Q9C0J8	WDR33_HUMAN		21	3928	-	Colorectal(110;0.1)		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	1	1	hg19	c.3770G>A	CCDS2150.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759078	0.89843	.	.	ENSG00000136709	ENST00000322313	D	0.90324	-2.65	5.04	5.04	0.67666	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	0	WDR33	128182732	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	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.612	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	1	0	1	2	2	2	2	0	0	0	0	70	70	70	69	1	1.800000	-8.896610	1	0.570000	NM_018383		0	139	137	0	340	335	1		1	1		0	0	70	0	0	1.000000	9.992064e-01	0	12	0	17	0	139	340
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								Untested	Somatic	Phase_I	WXS	none			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	0.190000	5.000000e-02	1.600000e-01	8.000000e-02	0.110000	0.122511	0.110000	0.120000																										0				606						c.(10411-10413)tgC>tgT		low density lipoprotein receptor-related protein 1B							140.0	127.0	131.0					2																	141200074		2203	4300	6503	SO:0001630	splice_region_variant	53353	1	121410	33				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	chr2.hg19:g.141200074G>A		0	TSP Lung(27;0.18)					p.C3471C	NM_018557.2	NP_061027.2	0	0	0	2.085772	Q9NZR2	LRP1B_HUMAN		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)	Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	0	1	hg19	c.10413C>T	CCDS2182.1	0																																																																																								0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1	2	20	2	2	1	1	1	1	51	51	51	51	1	1.800000	-3.146105	1	0.570000	NM_018557	Silent	0	11	11	0	326	322	0		0			1	0	51	0	0	0.064514	0	0	0	0	0	0	11	326
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								Untested	Somatic	Phase_I	WXS	none			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	0.120000	1.000000e-02	9.000000e-02	3.000000e-02	0.050000	0.064639	0.050000	0.060000																										0				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	0	0					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	chr2.hg19:g.141267495A>G		0	TSP Lung(27;0.18)						NM_018557.2	NP_061027.2	0	0	0	2.085772	Q9NZR2	LRP1B_HUMAN		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)	Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	0	1	hg19		CCDS2182.1	0	.	.	.	.	.	.	.	.	.	.	A	31	5.096901	0.94197	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	6.17	6.17	0.99709	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	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	.	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.512	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1	2	2	2	2	0	0	0	0	75	75	75	75	1	1.800000	-6.265689	1	0.570000	NM_018557	Intron	0	6	6	0	367	363	0		1			0	0	75	0	0	0.964100	0	0	0	0	0	0	6	367
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_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	0.110000	1.000000e-02	8.000000e-02	3.000000e-02	0.050000	0.059982	0.050000	0.050000																										0				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	0	0					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	chr2.hg19:g.168100148G>A	ENSP00000386840:p.Gly749Asp	0					XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.G749D	NM_152381.5	NP_689594.4	0	0	0	2.085772	A4UGR9	XIRP2_HUMAN		9	2335	+			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	0	1	hg19	c.2246G>A	CCDS42769.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	XIRP2	167808394	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	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	0	0	1	2	13	2	2	1	1	1	1	99	99	99	98	1	1.800000	-3.037425	1	0.570000	NM_152381		0	5	6	0	339	335	0		0			1	0	99	0	0	0.043587	0	0	0	0	0	0	5	339
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								Untested	Somatic	Phase_I	WXS	none			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	0.400000	8.000000e-02	3.100000e-01	1.400000e-01	0.210000	0.227391	0.210000	0.200000																										0				5						c.(121-123)Ggc>Cgc		crystallin, gamma D							11.0	13.0	12.0					2																	208988967		2173	4247	6420	SO:0001583	missense	1421	0	0					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	chr2.hg19:g.208988967C>G	ENSP00000264376:p.Gly41Arg	0						p.G41R	NM_006891.3	NP_008822.2	0	0	0	2.085772	P07320	CRGD_HUMAN		2	148	-			Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	0	1	hg19	c.121G>C	CCDS2378.1	0	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854297	0.91355	.	.	ENSG00000118231	ENST00000264376	D	0.92752	-3.1	4.35	4.35	0.52113	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	0	CRYGD	208697212	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	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.662	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	0	0	0	2	2	2	2	0	0	0	0	26	26	26	26	1	1.800000	-10.078430	1	0.570000	NM_006891		0	6	6	0	98	97	0		1			0	0	26	0	0	0.965404	0	0	0	0	0	0	6	98
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000418019.1_Missense_Mutation_p.D141Y|USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000454775.1_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	0.870000	5.300000e-01	7.900000e-01	6.100000e-01	0.690000	0.705648	0.690000	0.700000																										0				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	0	0					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	chr2.hg19:g.219414540C>A	ENSP00000258399:p.Asp141Tyr	0					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	p.D141Y	NM_020935.2	NP_065986	0	0	0	2.085772	Q86T82	UBP37_HUMAN		6	833	-		Renal(207;0.0915)	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	1	1	hg19	c.421G>T	CCDS2418.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	USP37	219122784	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	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.488	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	1	0	1	2	2	2	2	0	0	0	0	37	37	37	37	1	1.800000	-20.000000	1	0.570000	NM_020935		0	49	48	0	194	192	1		1	1		0	0	37	0	0	1.000000	1.883101e-01	0	2	0	2	0	49	194
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000330266.7_Missense_Mutation_p.C762Y|THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y	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	1.000000	7.800000e-01	9.500000e-01	8.300000e-01	0.880000	0.895320	0.880000	0.890000																										0				66						c.(3154-3156)tGt>tAt		thyroid adenoma associated							242.0	242.0	242.0					2																	43768407		2018	4189	6207	SO:0001583	missense	63892	0	0					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	chr2.hg19:g.43768407C>T	ENSP00000385995:p.Cys1052Tyr	0					THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y|THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000330266.7_Missense_Mutation_p.C762Y	p.C1052Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	0	0	0	2.085772	Q6YHU6	THADA_HUMAN		21	3506	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	1	1	hg19	c.3155G>A	CCDS46268.1	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	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	0|0	THADA|THADA	43621911|43621911	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	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.413	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1	2	2	2	2	0	0	0	0	157	157	157	157	1	1.800000	-20.000000	1	0.570000	NM_022065		0	203	199	0	584	574	1		1	1		0	0	157	0	0	1.000000	9.649836e-01	0	6	0	12	0	203	584
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000356842.4_Silent_p.G531G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.G200G|BCL11A_ENST00000358510.4_Silent_p.G497G	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	0.480000	9.000000e-02	3.700000e-01	1.500000e-01	0.240000	0.267556	0.240000	0.230000				Dom	yes			Dom	yes		2	2p13	2p13	53335	T	B-cell CLL/lymphoma 11A				L	L	IGH@		B-CLL		0				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	1	119960	26				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	chr2.hg19:g.60688454G>A		0					BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.G531G	p.G531G	NM_022893.3	NP_075044.2	0	0	0	2.085772	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	-			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	0	1	hg19	c.1593C>T	CCDS1862.1	0	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544002	0.04024	.	.	ENSG00000119866	ENST00000378117	.	.	.	4.08	3.2	0.36748	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	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	.	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.697	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	1	0	1	2	2	2	2	0	0	0	0	20	20	20	20	1	1.800000	-3.331042	1	0.570000	NM_022893		0	5	4	0	70	67	0		1	0		0	0	20	0	0	0.930440	6.993007e-03	0	0	0	2	0	5	70
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								Untested	Somatic	Phase_I	WXS	none			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	0.070000	0	5.000000e-02	1.000000e-02	0.020000	0.035094	0.020000	0.040000																										0				147						c.(577-579)gGc>gAc		Alstrom syndrome 1							137.0	132.0	134.0					2																	73646378		1848	4097	5945	SO:0001583	missense	7840	0	0					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	chr2.hg19:g.73646378G>A	ENSP00000264448:p.Gly193Asp	0					ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D|ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D	p.G193D	NM_015120.4	NP_055935	0	0	0	2.085772	Q8TCU4	ALMS1_HUMAN		3	689	+			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	0	1	hg19	c.578G>A	CCDS42697.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	ALMS1	73499886	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	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	0	0	1	2	2	2	2	0	0	0	0	114	114	114	113	1	1.800000	-2.530566	1	0.570000	NM_015120		0	6	6	0	672	664	0		1	0		0	0	114	0	0	0.963611	7.087447e-04	0	0	0	4	0	6	672
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000350136.5_Silent_p.C574C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000343805.6_Silent_p.C645C	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	0.940000	6.600000e-01	8.700000e-01	7.300000e-01	0.790000	0.806274	0.790000	0.800000																										1	Substitution - coding silent(1)	p.C705C(1)	large_intestine(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	30	121354	48				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	chr2.hg19:g.231174695C>T		0					SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000350136.5_Silent_p.C574C|SP140_ENST00000420434.3_Silent_p.C678C	p.C705C	NM_007237.4	NP_009168.4	0	0	0	2.085772	Q13342	SP140_HUMAN		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)	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	1	1	hg19	c.2115C>T	CCDS42831.1	0																																																																																								0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.512	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	1	0	1	2	2	2	2	0	0	0	0	57	57	57	55	1	1.800000	-3.163996	1	0.570000	NM_007237		0	101	99	0	335	331	1		1	0		0	0	57	0	0	1.000000	0	0	0	0	1	0	101	335
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								Untested	Somatic	Phase_I	WXS	none			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	0.350000	1.500000e-01	3.000000e-01	1.900000e-01	0.240000	0.253143	0.240000	0.240000																										0				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	163	121410	56				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	chr3.hg19:g.121354642C>T	ENSP00000320176:p.Gly211Ser	0					HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S|HCLS1_ENST00000473883.1_5'UTR	p.G211S	NM_005335.4	NP_005326	0	0	0	2.108460	P14317	HCLS1_HUMAN		9	722	-			B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	1	1	hg19	c.631G>A	CCDS3003.1	0	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	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	0	HCLS1	122837332	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.557	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	1	0	1	2	2	2	2	0	0	0	0	48	48	48	47	1	1.800000	-2.598651	1	0.570000	NM_005335		0	23	23	0	305	299	0		1	0		0	0	48	0	0	0.999999	9.787646e-01	0	0	0	85	0	23	305
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron	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	0.060000	0	5.000000e-02	1.000000e-02	0.020000	0.031635	0.020000	0.030000																										0				23						c.(253-255)cGc>cAc		CD86 molecule	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)						143.0	142.0	142.0					3																	121822548		2203	4300	6503	SO:0001583	missense	942	0	0					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	chr3.hg19:g.121822548G>A	ENSP00000332049:p.Arg85His	0					CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	p.R85H	NM_175862.4	NP_787058	0	0	0	2.108460	P42081	CD86_HUMAN		3	370	+			A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	0	1	hg19	c.254G>A	CCDS3009.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	CD86	123305238	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	0	0	1	2	2	2	9	0	0	0	0	124	124	124	122	1	1.800000	-1.805282	0	0.570000	NM_006889		0	6	7	0	742	733	0		1	0	0	0	2	124	983	0	0.963877	4.198185e-03	6.844924e-01	0	4	10	1242	6	742
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000309879.5_Missense_Mutation_p.R299W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W	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	1.000000	9.900000e-01	1	9.900000e-01	0.990000	0.999990	0.990000	1.000000																										0				60						c.(1945-1947)Cgg>Tgg		adenylate cyclase 5							39.0	37.0	37.0					3																	123046467		2203	4300	6503	SO:0001583	missense	111	0	0					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	chr3.hg19:g.123046467G>A	ENSP00000419361:p.Arg649Trp	0					ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W	p.R649W	NM_183357.2	NP_899200.1	0	0	0	2.108460	O95622	ADCY5_HUMAN		7	3157	-			B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	1	1	hg19	c.1945C>T	CCDS3022.1	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	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	2	ADCY5	124529157	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.627	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1	2	2	2	2	0	0	0	0	20	20	20	20	1	1.800000	-20.000000	1	0.570000	XM_171048		0	49	49	0	62	62	1		1	0		0	0	20	0	0	1.000000	5.943267e-01	0	0	0	4	0	49	62
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000360772.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T|MYLK_ENST00000346322.5_Missense_Mutation_p.A960T|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T			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																																						ENST00000475616.1	1.000000	8.200000e-01	1	8.800000e-01	0.930000	0.939403	0.930000	1.000000																										0				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	0	0					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	chr3.hg19:g.123419230C>T	ENSP00000418335:p.Ala1029Thr	0					MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T|MYLK_ENST00000346322.5_Missense_Mutation_p.A960T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T	p.A1029T			0	0	0	2.108460	Q15746	MYLK_HUMAN		15	3084	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	1	1	hg19	c.3085G>A	CCDS46896.1	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	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	0	MYLK	124901920	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.607	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1	2	2	2	2	0	0	0	0	147	147	147	145	1	1.800000	-20.000000	1	0.570000	NM_053025		0	202	201	0	545	535	1		1	1		0	0	147	0	0	1.000000	9.999938e-01	0	2	0	47	0	202	545
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000273541.8_Missense_Mutation_p.A126T|ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.A126T|ISY1_ENST00000393292.3_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR	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					ENST00000393295.3	0.060000	0	5.000000e-02	1.000000e-02	0.020000	0.032065	0.020000	0.030000																										0				15						c.(376-378)Gca>Aca		ISY1 splicing factor homolog (S. cerevisiae)							203.0	189.0	193.0					3																	128859253		1842	4079	5921	SO:0001583	missense	57461	1	120794	34				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	chr3.hg19:g.128859253C>T	ENSP00000376973:p.Ala126Thr	0					ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.A126T|ISY1_ENST00000393292.3_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.A126T	p.A126T	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	0	0	0	2.108460	Q9ULR0	ISY1_HUMAN		7	693	-			Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	0	1	hg19	c.376G>A	CCDS43149.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.462755	0.96257	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.61980	0.06	5.66	5.66	0.87406	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	0	ISY1	130341943	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.368	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	0	0	1	2	2	2	2	0	0	0	0	131	131	131	89	1	1.800000	-2.630986	1	0.570000	NM_020701		0	6	6	0	733	513	0		1	0		0	0	131	0	0	0.906546	2.447533e-01	0	0	0	100	0	6	733
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								Untested	Somatic	Phase_I	WXS	none			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	0.070000	0	5.000000e-02	1.000000e-02	0.020000	0.035161	0.020000	0.040000																										0				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	0	0					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	chr3.hg19:g.133535748T>G	ENSP00000418401:p.Leu192Val	0						p.L192V	NM_021203.3	NP_067026.3	0	0	0	2.104343	Q9Y5M8	SRPRB_HUMAN		7	859	+			Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	0	1	hg19	c.574T>G	CCDS3081.1	0	.	.	.	.	.	.	.	.	.	.	T	2.622	-0.288295	0.05605	.	.	ENSG00000144867	ENST00000466490	T	0.15487	2.42	5.48	1.59	0.23543	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	2	SRPRB	135018438	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.348	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2	0	0	1	2	2	2	2	0	0	0	0	132	132	132	131	1	1.800000	-5.211543	1	0.570000			0	7	7	0	773	760	0		1	1		0	0	132	0	0	0.979447	5.457794e-01	0	3	0	185	0	7	773
ROBO1	6091	broad.mit.edu	37	3	78666996	78666997	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666996_78666997GG>AT	ENST00000464233.1	-	27	4183_4184	c.4070_4071CC>AT	c.(4069-4071)tCC>tAT	p.S1357Y	ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.S1318Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y	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)		CCCCAACACTGGAGGCAGGTGT	0.569																																						ENST00000464233.1	0.300000	8.000000e-02	2.400000e-01	1.200000e-01	0.170000	0.186504|0.185602	0.170000	0.170000																										0				44						c.(4069-4071)tcC>tcT|c.(4069-4071)tCc>tAc		roundabout, axon guidance receptor, homolog 1 (Drosophila)																																				SO:0001583	missense	6091	0	0					g.chr3:78666996G>A|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.4070_4071delinsAT	chr3.hg19:g.78666996_78666997delinsAT	ENSP00000420321:p.Ser1357Tyr	0					ROBO1_ENST00000467549.1_Silent_p.S1257S|ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000436010.2_Silent_p.S1318S|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.S1318Y	p.S1357S|p.S1357Y	NM_002941.3	NP_002932.1	0	0	0	2.108460	Q9Y6N7	ROBO1_HUMAN		27	4184|4183	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent|Missense_Mutation	SNP	ENST00000464233.1	1	1	hg19	c.4071C>T|c.4070C>A	CCDS54611.1	0																									|5.68	|5.68	|0.88126																																												|0			|78749687														0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.569	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1|0	0	1	2	2	2|4	2	0	0|1	0|1	0	43	44|43	44|43	43	1	1.800000	-12.660950|-12.703130	1	0.570000	NM_002941		0	10	10	0	193|194	191|192	0		1	0		0|1	0	44|43	0	0	0.996948|0.996947	3.482191e-01|3.997810e-02	0	0	0	23	0	10	193
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	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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	0.640000	4.800000e-01	6.100000e-01	5.200000e-01	0.560000	0.567766	0.560000	0.570000																										0				9						c.(190-192)Gag>Aag		somatostatin	Cysteamine(DB00847)						243.0	224.0	230.0					3																	187387014		2203	4300	6503	SO:0001583	missense	6750	0	0					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	chr3.hg19:g.187387014C>T	ENSP00000287641:p.Glu64Lys	0						p.E64K	NM_001048.3	NP_001039.1	0	0	0	2.104343	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	2	297	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	1	1	hg19	c.190G>A	CCDS3288.1	0	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696829	0.68386	.	.	ENSG00000157005	ENST00000287641	T	0.38401	1.14	5.51	4.64	0.57946	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	0	SST	188869708	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.522	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	1	0	1	2	2	2	2	0	0	0	0	170	170	170	165	1	1.800000	-20.000000	1	0.570000	NM_001048		0	177	176	0	914	899	1		1	0		0	0	170	0	0	1.000000	1	0	0	0	127	0	177	914
UGT2B28	54490	broad.mit.edu	37	4	70155416	70155416	+	Missense_Mutation	SNP	G	G	A	rs77927079		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:70155416G>A	ENST00000335568.5	+	4	1038	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	346					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAACCAGATGCCTTAGGTCT	0.373																																						ENST00000335568.5	0.570000	3.300000e-01	5.100000e-01	3.800000e-01	0.440000	0.454048	0.440000	0.450000																										0				31						c.(1036-1038)Gcc>Acc		UDP glucuronosyltransferase 2 family, polypeptide B28		G	,THR/ALA	312,2668		79,154,1257	103.0	136.0	124.0		,1036	0.5	0.5	4	dbSNP_131	124	183,5227		25,133,2547	no	intron,missense	UGT2B28	NM_001207004.1,NM_053039.1	,58	104,287,3804	AA,AG,GG		3.3826,10.4698,5.8999	,benign	,346/530	70155416	495,7895	1490	2705	4195	SO:0001583	missense	54490	8893	120308	64				g.chr4:70155416G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1036G>A	chr4.hg19:g.70155416G>A	ENSP00000334276:p.Ala346Thr	0					UGT2B28_ENST00000511240.1_Intron	p.A346T	NM_053039.1	NP_444267.1	0	0	0	2.102662	Q9BY64	UDB28_HUMAN		4	1038	+			B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	1	0	hg19	c.1036G>A	CCDS3528.1	0	165	0.07554945054945054	81	0.16463414634146342	34	0.09392265193370165	10	0.017482517482517484	40	0.052770448548812667	-	0.001	-3.079173	0.00035	0.104698	0.033826	ENSG00000135226	ENST00000335568	T	0.58060	0.36	1.85	0.514	0.17007	1.85	0.514	0.17007	.	0.242658	0.33127	N	0.005251	T	0.00039	0.0001	N	0.00074	-2.255	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.34576	-0.9823	10	0.02654	T	1	.	4.4177	0.11465	0.6279:0.0:0.3721:0.0	.	346	Q9BY64	UDB28_HUMAN	T	346	ENSP00000334276:A346T	ENSP00000334276:A346T	A	+	1	0	0	UGT2B28	70190005	70190005	0.000000	0.05858	0.487000	0.27428	0.008000	0.06430	0.824000	0.27379	-0.005000	0.14395	-1.499000	0.00960	GCC	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.373	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	0	0	1	2	2	2	2	0	0	0	0	76	76	76	76	1	1.800000	-0.876799	0	0.570000	NM_053039		0	44	41	0	299	278	1		1			0	0	76	0	0	1.000000	0	0	0	0	0	0	44	299
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Missense_Mutation_p.A60V|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																																						ENST00000503124.1	0.070000	0	6.000000e-02	1.000000e-02	0.030000	0.038457	0.030000	0.040000																										0				48						c.(73-75)gCc>gTc		albumin							69.0	74.0	72.0					4																	74275113		2203	4299	6502	SO:0001583	missense	213	0	0					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	chr4.hg19:g.74275113C>T	ENSP00000421027:p.Ala25Val	0					ALB_ENST00000401494.3_Missense_Mutation_p.A60V|ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000415165.2_Intron|ALB_ENST00000295897.4_Missense_Mutation_p.A175V|ALB_ENST00000505649.1_3'UTR	p.A25V			0	0	0	2.102662	Q8TES7	FBF1_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)	3	281	+	Breast(15;0.00102)		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	0	1	hg19	c.74C>T		0	.	.	.	.	.	.	.	.	.	.	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	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	0	ALB	74493977	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	0.567535		TCGA-F2-A8YN-01A-11D-A377-08	0.353	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	0	0	1	2	2	2	2	0	0	0	0	120	120	120	118	1	1.800000	-2.206329	0	0.570000	NM_000477		0	5	7	0	530	528	0		1	0		0	0	120	0	0	0.937808	4.278587e-02	0	0	0	28	0	5	530
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								Untested	Somatic	Phase_I	WXS	none			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	SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.V508I|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I	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					ENST00000261368.8	0.080000	0	6.000000e-02	1.000000e-02	0.030000	0.041832	0.030000	0.040000																										0				39						c.(1381-1383)Gtt>Att		synuclein, alpha interacting protein							149.0	141.0	143.0					5																	121776408		2203	4300	6503	SO:0001583	missense	9627	4	121412	38				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	chr5.hg19:g.121776408G>A	ENSP00000261368:p.Val461Ile	0					SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.V508I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I	p.V461I	NM_005460.2	NP_005451.2	0	0	0	2.116258	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	7	1643	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	0	1	hg19	c.1381G>A	CCDS4131.1	0	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	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	0	SNCAIP	121804307	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.428	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	0	0	1	2	2	2	2	0	0	0	0	80	80	80	79	1	1.800000	-2.254108	0	0.570000			0	5	5	0	491	488	0		1	0		0	0	80	0	0	0.936834	1.636768e-03	0	0	0	5	0	5	491
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	8.900000e-01	1	9.800000e-01	0.990000	0.990541	0.990000	1.000000																										0				84						c.(637-639)gcG>gcA		protocadherin beta 6							53.0	57.0	56.0					5																	140530477		2203	4300	6503	SO:0001819	synonymous_variant	56130	0	0					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	chr5.hg19:g.140530477G>A		0					PCDHB6_ENST00000543635.1_Silent_p.A77A	p.A213A	NM_018939.2	NP_061762.1	0	0	0	2.116258	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	639	+			B2R8R9	Silent	SNP	ENST00000231136.1	1	1	hg19	c.639G>A	CCDS4248.1	1																																																																																								0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.602	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	1	0	1	2	2	2	2	0	0	0	0	91	91	91	91	1	1.800000	-20.000000	1	0.570000	NM_018939		0	90	87	0	202	198	1		1	0		0	0	91	0	0	1.000000	7.574151e-01	0	0	0	8	0	90	202
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								Untested	Somatic	Phase_I	WXS	none			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	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_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	0.710000	5.200000e-01	6.700000e-01	5.700000e-01	0.610000	0.624551	0.610000	0.620000																										0				43						c.(2299-2301)tcG>tcA		protocadherin gamma subfamily A, 10							100.0	108.0	106.0					5																	140795043		2203	4300	6503	SO:0001819	synonymous_variant	56106	1	121412	33				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	chr5.hg19:g.140795043G>A		0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.S767S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	0	0	0	2.116258	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2301	+			Q9Y5E0	Silent	SNP	ENST00000398610.2	1	1	hg19	c.2301G>A	CCDS47292.1	0																																																																																								0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.562	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	1	0	1	2	2	2	2	0	0	0	0	121	121	121	119	1	1.800000	-20.000000	1	0.570000	NM_018913		0	141	139	0	654	645	1		1	0		0	0	121	0	0	1.000000	6.074038e-01	0	0	0	11	0	141	654
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								Untested	Somatic	Phase_I	WXS	none			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	0.310000	1.600000e-01	2.700000e-01	1.900000e-01	0.220000	0.235475	0.220000	0.230000																										0				32						c.(526-528)ttC>ttG		complement component 9							199.0	194.0	196.0					5																	39331865		2203	4300	6503	SO:0001583	missense	735	0	0					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	chr5.hg19:g.39331865G>C	ENSP00000263408:p.Phe176Leu	0					C9_ENST00000509186.1_5'UTR	p.F176L	NM_001737.3	NP_001728.1	0	1	1	2.112614	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)		Missense_Mutation	SNP	ENST00000263408.4	1	1	hg19	c.528C>G	CCDS3929.1	0	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205577	0.58234	.	.	ENSG00000113600	ENST00000263408	T	0.33438	1.41	5.72	4.74	0.60224	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	2	C9	39367622	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	0.568771		TCGA-F2-A8YN-01A-11D-A377-08	0.438	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3	1	0	1	2	2	2	2	0	0	0	0	104	104	104	104	1	1.800000	-7.762589	1	0.570000			0	36	35	0	511	508	0		1			0	0	104	0	0	1.000000	0	0	0	0	0	0	36	511
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	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000542098.1_Missense_Mutation_p.R295Q|RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q			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	1.000000	6.000000e-01	9.300000e-01	7.000000e-01	0.800000	0.816831	0.800000	1.000000																										0				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	1	121412	34				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	chr5.hg19:g.177574596G>A	ENSP00000420875:p.Arg308Gln	0					RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q|RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q	p.R308Q			0	0	0	2.116258	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)	Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	1	1	hg19	c.923G>A	CCDS4431.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.360506	0.95877	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.78	5.78	0.91487	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	0	RMND5B	177507202	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.577	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	1	0	1	2	2	2	2	0	0	0	0	31	31	31	31	1	1.800000	-4.090996	1	0.570000	NM_022762		0	41	41	0	136	132	1		1	1		0	0	31	0	0	1.000000	9.999993e-01	0	26	0	52	0	41	136
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	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000368961.5_Silent_p.L140L|CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000275080.7_Silent_p.L159L|CD164_ENST00000324953.5_Silent_p.L153L|CD164_ENST00000512821.1_Intron|CD164_ENST00000506649.1_5'UTR	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																																						ENST00000310786.4	1.000000	9.900000e-01	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				3						c.(514-516)ctG>ctA		CD164 molecule, sialomucin							104.0	94.0	97.0					6																	109690132		2203	4300	6503	SO:0001819	synonymous_variant	8763	0	0					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	chr6.hg19:g.109690132C>T		1					CD164_ENST00000368961.5_Silent_p.L140L|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000324953.5_Silent_p.L153L|CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000512821.1_Intron|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000275080.7_Silent_p.L159L	p.L172L	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	0	2	2	2.108549	Q04900	MUC24_HUMAN		6	581	-		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)	B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Silent	SNP	ENST00000310786.4	1	1	hg19	c.516G>A	CCDS5073.1	1																																																																																								0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.388	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	1	0	1	2	2	2	2	0	0	0	0	56	56	56	55	1	1.800000	-20.000000	1	0.570000	NM_006016		0	138	136	0	112	108	1		1	1		0	0	56	0	0	1.000000	1	0	820	0	84	0	138	112
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000424408.2_Missense_Mutation_p.A1051V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000389463.4_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	0.070000	0	5.000000e-02	1.000000e-02	0.030000	0.037108	0.030000	0.030000																										0				100						c.(3172-3174)gCc>gTc		laminin, alpha 4							195.0	184.0	188.0					6																	112460431		2203	4300	6503	SO:0001583	missense	3910	0	0					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	chr6.hg19:g.112460431G>A	ENSP00000230538:p.Ala1058Val	1					LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V	p.A1058V	NM_001105206.2	NP_001098676.2	0	1	1	1.491063	Q16363	LAMA4_HUMAN		24	3570	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	0	1	hg19	c.3173C>T	CCDS43491.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	LAMA4	112567124	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	0.398601		TCGA-F2-A8YN-01A-11D-A377-08	0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	0	0	1	2	2	2	2	0	0	0	0	87	87	87	85	1	1.800000	-1.820661	0	0.570000	NM_001105206		0	5	5	0	397	390	0		1	0		0	0	87	0	0	0.934988	2.417771e-01	0	0	0	63	0	5	397
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								Untested	Somatic	Phase_I	WXS	none			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			0	0																														0				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	0	0					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	chr6.hg19:g.137815036C>T	ENSP00000356708:p.Arg91His							p.R91H	NM_175747.2	NP_786923.1					Q7RTU3	OLIG3_HUMAN		1	495	-	Breast(32;0.165)|Colorectal(23;0.24)		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	1	1	hg19	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	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	0	OLIG3	137856729	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			TCGA-F2-A8YN-01A-11D-A377-08	0.617	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	1	0	1	2	2	2	2	0	0	0	0	86	86	86	84	1	1.800000	-3.142736	1	0.570000	NM_175747		0	78	77	0	486	477	1		1			0	0	86	0	0	1.000000	0	0	0	0	0	0	78	486
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T|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	0.050000	0	4.000000e-02	1.000000e-02	0.020000	0.029048	0.020000	0.030000																										0				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	0	0					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	chr6.hg19:g.26390289G>A	ENSP00000349143:p.Ala261Thr	1					BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T|BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T	p.A261T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	0	1	1	1.521508	Q8WVV5	BT2A2_HUMAN		5	892	+			A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	0	1	hg19	c.781G>A	CCDS4606.1	0	.	.	.	.	.	.	.	.	.	.	.	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	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	0	BTN2A2	26498268	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	0.398601		TCGA-F2-A8YN-01A-11D-A377-08	0.463	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1	0	0	1	2	2	2	2	0	0	0	0	114	114	114	114	1	1.800000	-1.951449	0	0.570000			0	5	5	0	509	507	0		1	0		0	0	114	0	0	0.936859	7.867875e-03	0	0	0	11	0	5	509
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	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			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_ENST00000556679.1_Missense_Mutation_p.R917H|CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000456570.1_Missense_Mutation_p.R917H|CFB_ENST00000497841.1_3'UTR	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																																						ENST00000425368.2	0.140000	0	1.000000e-01	3.000000e-02	0.060000	0.069904	0.060000	0.060000																										1	Substitution - Missense(1)	p.R415H(1)	lung(1)	21						c.(1243-1245)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	2	121412	30				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	chr6.hg19:g.31917095G>A	ENSP00000416561:p.Arg415His	1					CFB_ENST00000456570.1_Missense_Mutation_p.R917H|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H	p.R415H	NM_001710.5	NP_001701.2	1	2	3	2.739861	P00751	CFAB_HUMAN		9	1757	+			B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	0	1	hg19	c.1244G>A	CCDS4729.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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	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	0|0	CFB|CFB;XXbac-BPG116M5.17	32025074|32025074	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	0.665370		TCGA-F2-A8YN-01A-11D-A377-08	0.522	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	0	0	1	2	2	2	2	0	0	0	0	43	43	43	43	1	1.800000	-2.316912	0	0.570000	NM_001710		0	4	4	0	314	311	0		1	1		0	0	43	0	0	0.887263	9.968412e-01	0	2	0	1063	0	4	314
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	7.000000e-02	1	1.100000e-01	0.160000	0.358473	0.160000	0.150000																										0				8						c.(9703-9705)taC>taT		tenascin XB							42.0	45.0	44.0					6																	32017099		1278	2541	3819	SO:0001819	synonymous_variant	7148	0	0					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	chr6.hg19:g.32017099G>A		1					TNXB_ENST00000375247.2_Silent_p.Y3233Y	p.Y3235Y			1	3	4	2.730959	P22105	TENX_HUMAN		28	9906	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	1	1	hg19	c.9705C>T		0																																																																																								0.671204		TCGA-F2-A8YN-01A-11D-A377-08	0.697	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	0	1	2	2	2	2	0	0	0	0	37	37	37	37	1	1.800000	-2.910188	1	0.570000	NM_019105		0	11	10	0	342	332	0		1	0		0	0	37	0	0	0.998089	3.606304e-03	0	0	0	3	0	11	342
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	7.700000e-01	9.700000e-01	8.400000e-01	0.900000	0.906110	0.900000	0.930000																										0				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	3	121214	37				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	chr6.hg19:g.96651947G>A	ENSP00000302599:p.Asp306Asn	1						p.D306N	NM_006581.3	NP_006572.2	0	1	1	1.500843	Q9Y231	FUT9_HUMAN		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)	Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	1	1	hg19	c.916G>A	CCDS5033.1	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	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	0	FUT9	96758668	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	0.398601		TCGA-F2-A8YN-01A-11D-A377-08	0.368	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	1	0	1	2	2	2	2	0	0	0	0	94	94	94	94	1	1.800000	-20.000000	1	0.570000	NM_006581		0	95	92	0	161	160	0		1	0		0	0	94	0	0	1.000000	0	0	1	0	0	0	95	161
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								Untested	Somatic	Phase_I	WXS	none			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	1.000000	1.400000e-01	3.800000e-01	2.000000e-01	0.270000	0.316693	0.270000	0.260000																										0				12						c.(190-192)Cgg>Tgg		syntaxin 11							36.0	34.0	35.0					6																	144507954		2203	4300	6503	SO:0001583	missense	8676	0	0		Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	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	chr6.hg19:g.144507954C>T	ENSP00000356540:p.Arg64Trp	1						p.R64W	NM_003764.3	NP_003755.2	0	2	2	2.114676	O75558	STX11_HUMAN		2	373	+			E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	0	1	hg19	c.190C>T	CCDS5205.1	0	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830098	0.50845	.	.	ENSG00000135604	ENST00000367568	T	0.18960	2.18	5.99	5.99	0.97316	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	2	STX11	144549647	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1	1	0	1	2	2	2	2	0	0	0	0	23	23	23	23	1	1.800000	-16.054450	1	0.570000			0	11	11	0	135	133	0		1	0		0	0	23	0	0	0.998424	5.849294e-02	0	0	0	5	0	11	135
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396184.3_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																																						ENST00000396191.1	0.110000	2.000000e-02	9.000000e-02	4.000000e-02	0.060000	0.069293	0.060000	0.060000																										0				81						c.(52-54)taC>taA		phosphodiesterase 1C, calmodulin-dependent 70kDa	Caffeine(DB00201)						154.0	156.0	156.0					7																	32109952		2203	4300	6503	SO:0001587	stop_gained	5137	0	0					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	chr7.hg19:g.32109952G>T	ENSP00000379494:p.Tyr18*	0					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*	p.Y18*	NM_001191057.1	NP_001177986.1	0	0	0	2.119234	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)	1	509	-			B3KPC6|E9PE92|Q14124|Q8NB10	Nonsense_Mutation	SNP	ENST00000396191.1	0	1	hg19	c.54C>A	CCDS55099.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.202601	0.97371	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	.	.	.	4.94	4.94	0.65067	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	2	PDE1C	32076477	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.502	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1	0	0	1	2	2	2	2	0	0	0	0	88	88	88	85	1	1.800000	-8.052445	1	0.570000			0	10	10	0	544	534	0		1			0	0	88	0	0	0.996630	0	0	0	0	0	0	10	544
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								Untested	Somatic	Phase_I	WXS	none			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	0.120000	1.000000e-02	9.000000e-02	3.000000e-02	0.050000	0.066426	0.050000	0.060000																										0				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	0	0					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	chr7.hg19:g.37956044G>A		0					EPDR1_ENST00000476620.1_Intron	p.C32C	NM_003014.3	NP_003005.2	0	0	0	2.119234	Q6FHJ7	SFRP4_HUMAN		1	473	-			B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	0	1	hg19	c.96C>T	CCDS5453.1	0																																																																																								0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.672	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	0	0	1	2	2	2	2	0	0	0	0	37	37	37	37	1	1.800000	-2.825972	1	0.570000	NM_003014		0	5	5	0	309	307	0		1	0		0	0	37	0	0	0.936976	4.583301e-01	0	0	0	85	0	5	309
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000434197.1_Missense_Mutation_p.A162G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G	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	0.120000	2.000000e-02	9.000000e-02	4.000000e-02	0.060000	0.069436	0.060000	0.060000																										0				10						c.(538-540)gCa>gGa		STARD3 N-terminal like							135.0	127.0	130.0					7																	38256892		2203	4300	6503	SO:0001583	missense	83930	0	0					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	chr7.hg19:g.38256892C>G	ENSP00000009041:p.Ala180Gly	0					STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G|STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G	p.A180G	NM_032016.3	NP_114405.1	0	0	0	2.119234	O95772	MENTO_HUMAN		6	796	+			A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	0	1	hg19	c.539C>G	CCDS5455.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	STARD3NL	38223417	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.483	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2	0	0	1	2	2	2	2	0	0	0	0	126	126	126	126	1	1.800000	-3.175415	1	0.570000			0	8	7	0	444	439	0		1	1		0	0	126	0	0	0.988910	5.654769e-01	0	2	0	98	0	8	444
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								Untested	Somatic	Phase_I	WXS	none			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	0.190000	4.000000e-02	1.500000e-01	7.000000e-02	0.100000	0.115875	0.100000	0.100000																										0				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	1	120896	31				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	chr7.hg19:g.72754662G>A	ENSP00000252037:p.Arg204Gln	0					RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q	p.R204Q	NM_003602.3	NP_003593.3	0	0	0	2.119234	O75344	FKBP6_HUMAN		6	680	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	1	1	hg19	c.611G>A	CCDS43595.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	FKBP6	72392598	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	0	0	1	2	2	2	2	0	0	0	0	35	35	35	35	1	1.800000	-9.527086	1	0.570000	NM_003602		0	9	9	0	291	288	0		1			0	0	35	0	0	0.994051	0	0	0	0	0	0	9	291
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								Untested	Somatic	Phase_I	WXS	none			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	0.140000	1.000000e-02	1.000000e-01	3.000000e-02	0.060000	0.073404	0.060000	0.060000																										0				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	0	0					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	chr8.hg19:g.68015300C>T	ENSP00000262210:p.Pro327Ser	0					CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S	p.P327S	NM_024790.6	NP_079066.5	0	0	0	2.116021	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)	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	0	1	hg19	c.979C>T	CCDS43744.1	0	.	.	.	.	.	.	.	.	.	.	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	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	0	CSPP1	68177854	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	0	0	1	2	2	2	2	0	0	0	0	41	41	41	41	1	1.800000	-3.012819	1	0.570000	NM_024790		0	4	4	0	232	231	0		1	0		0	0	41	0	0	0.890131	1.658614e-02	0	0	0	9	0	4	232
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								Untested	Somatic	Phase_I	WXS	none			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	0.090000	0	7.000000e-02	2.000000e-02	0.040000	0.051271	0.040000	0.040000																										0				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	0	0					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	chr8.hg19:g.143569790C>T	ENSP00000430945:p.Arg792Trp	0					BAI1_ENST00000323289.5_Missense_Mutation_p.R792W	p.R792W			0	0	0	2.116021	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)			Missense_Mutation	SNP	ENST00000517894.1	0	1	hg19	c.2374C>T		0	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419482	0.62622	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28666	1.6;1.6	4.65	1.7	0.24286	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	2	BAI1	143566792	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.632	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	0	0	1	2	2	2	2	0	0	0	0	71	71	71	67	1	1.800000	-2.084747	0	0.570000	NM_001702		0	6	6	0	470	448	0		1	0		0	0	71	0	0	0.959736	0	0	0	0	1	0	6	470
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000430669.2_Missense_Mutation_p.D167G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G|PTCH1_ENST00000548379.1_5'UTR	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																																						ENST00000331920.6	1.000000	7.000000e-01	9.700000e-01	7.800000e-01	0.870000	0.878946	0.870000	1.000000																										0				490						c.(697-699)gAc>gGc		patched 1							88.0	78.0	81.0					9																	98244279		2203	4300	6503	SO:0001583	missense	5727	0	0					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	chr9.hg19:g.98244279T>C	ENSP00000332353:p.Asp233Gly	0					PTCH1_ENST00000430669.2_Missense_Mutation_p.D167G|PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G	p.D233G	NM_000264.3	NP_000255.2	0	0	0	2.093051	Q13635	PTC1_HUMAN		5	997	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	1	1	hg19	c.698A>G	CCDS6714.1	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	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	0	PTCH1	97284100	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	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.433	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	1	0	1	2	2	2	2	0	0	0	0	49	49	49	48	1	1.800000	-20.000000	1	0.570000	NM_000264		0	68	66	0	200	198	1		1	0		0	0	49	0	0	1.000000	6.431038e-01	0	1	0	7	0	68	200
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000374263.3_Silent_p.H233H|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_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	1.000000	8.300000e-01	1	8.900000e-01	0.940000	0.947543	0.940000	1.000000																									SUSD1/ROD1(2)	1	Substitution - coding silent(1)	p.H233H(1)	large_intestine(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	1	121412	38				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	chr9.hg19:g.114904607A>G		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	0	0	0	2.093051	Q6UWL2	SUSD1_HUMAN		5	871	-			A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	1	1	hg19	c.699T>C	CCDS6783.1	1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653217	0.14580	.	.	ENSG00000106868	ENST00000415074	.	.	.	5.66	0.0291	0.14161	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	0	SUSD1	113944428	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	0.565041		TCGA-F2-A8YN-01A-11D-A377-08	0.408	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	1	0	1	2	2	2	2	0	0	0	0	155	155	155	154	1	1.800000	-20.000000	1	0.570000	NM_022486		0	192	190	0	506	496	1		1	1		0	0	155	0	0	1.000000	9.750929e-01	0	5	0	13	0	192	506
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								Untested	Somatic	Phase_I	WXS	none			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	0.040000	0	3.000000e-02	0	0.010000	0.022383	0.010000	0.020000																										0				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	0	0					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	chrX.hg19:g.107976904G>A	ENSP00000361202:p.Arg891*						RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	p.R891*	NM_003604.2	NP_003595.1	0	1	1		O14654	IRS4_HUMAN		1	2747	-				Nonsense_Mutation	SNP	ENST00000372129.2	0	1	hg19	c.2671C>T	CCDS14544.1	0	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715445	0.89112	.	.	ENSG00000133124	ENST00000372129	.	.	.	5.2	0.841	0.18918	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	2	IRS4	107863560	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.443	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	0	1	2	2	2	2	0	0	0	0	162	162	162	161	1	1.800000	-2.069861	0	0.570000	NM_003604		0	8	8	0	697	690	0		1			0	0	162	0	0	0.988972	0	0	0	0	0	0	8	697
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	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			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	0.040000	0	3.000000e-02	0	0.010000	0.021318	0.010000	0.020000																										0				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	0	0					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	chrX.hg19:g.1508553C>T	ENSP00000370808:p.Arg60His						SLC25A6_ENST00000475167.1_5'UTR	p.R60H	NM_001636.3	NP_001627.2	0	1	1		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)	Q96C49	Missense_Mutation	SNP	ENST00000381401.5	0	1	hg19	c.179G>A	CCDS14114.1	0	.	.	.	.	.	.	.	.	.	.	.	11.91	1.779028	0.31502	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.79653	-1.29	1.69	0.758	0.18432	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	0	SLC25A6	1468553	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.607	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	0	0	1	2	2	2	2	0	0	0	0	99	99	99	99	1	1.800000	-1.925356	0	0.570000	NM_001636		0	5	5	0	482	473	0		1	0		0	0	99	0	0	0.934736	9.965514e-01	0	0	0	1162	0	5	482
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								Untested	Somatic	Phase_I	WXS	none			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_ENST00000371951.1_Missense_Mutation_p.L333Q|HTR2C_ENST00000371950.3_3'UTR	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	0.700000	5.300000e-01	6.600000e-01	5.700000e-01	0.610000	0.619312	0.610000	0.620000																										0				50						c.(997-999)cTg>cAg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	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)						193.0	174.0	180.0					X																	114141599		2203	4300	6503	SO:0001583	missense	3358	0	0					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	chrX.hg19:g.114141599T>A	ENSP00000276198:p.Leu333Gln						HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q	p.L333Q	NM_000868.2	NP_000859.1	0	1	1		P28335	5HT2C_HUMAN		6	1726	+			B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	1	1	hg19	c.998T>A	CCDS14564.1	0	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547060	0.45383	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.44482	0.92;0.92	5.14	5.14	0.70334	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	0	HTR2C	114047855	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.383	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	1	0	1	2	2	2	2	0	0	0	0	93	93	93	92	1	1.800000	-20.000000	1	0.570000	NM_000868		0	144	144	0	264	265	1		1			0	0	93	0	0	1.000000	0	0	0	0	0	0	144	264
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								Untested	Somatic	Phase_I	WXS	none			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	SNORA56_ENST00000383966.1_RNA|DKC1_ENST00000475966.1_3'UTR	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	0.150000	5.000000e-02	1.200000e-01	7.000000e-02	0.090000	0.102685	0.090000	0.100000																										0				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	0	0		Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	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	chrX.hg19:g.154001414T>A	ENSP00000358563:p.Leu349Ile						SNORA56_ENST00000383966.1_RNA|DKC1_ENST00000475966.1_3'UTR	p.L349I	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	0	1	1		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)		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	1	1	hg19	c.1045T>A	CCDS14761.1	0	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138074	0.56936	.	.	ENSG00000130826	ENST00000369550	D	0.95342	-3.68	5.7	-1.01	0.10169	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	2	DKC1	153654608	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	0.570000		TCGA-F2-A8YN-01A-11D-A377-08	0.408	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	1	0	1	2	2	2	2	0	0	0	0	66	66	66	64	1	1.800000	-19.998740	1	0.570000	NM_001363		0	20	20	0	336	329	0		1	1		0	0	66	0	0	0.999995	9.617098e-01	0	5	0	88	0	20	336
