#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
NBPF15	284565	broad.mit.edu	37	1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		449	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493																																						ENST00000417839.1		NA																	0				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(1345-1347)gatfs		neuroblastoma breakpoint family, member 16							1.0	1.0	1.0					1																	148753330		531	579	1110	SO:0001589	frameshift_variant	728936							g.chr1:148753330delT																												ENST00000417839.1:c.1347delT	1.37:g.148753330delT	ENSP00000395369:p.Asp449fs	False	False		Somatic	2					p.D449fs	NM_001102663.1	NP_001096133.1	WXS	Illumina HiSeq	Phase_I					12	1537	+	all_hematologic(923;0.032)		NA					A8MPT6	Frame_Shift_Del	DEL	ENST00000417839.1	37	c.1347delT	CCDS41384.1																																																																																				0.493	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1	0			1:148753330
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
SUCO	51430	broad.mit.edu	37	1	172571287	172571297	+	Frame_Shift_Del	DEL	AAATACTTCTC	AAATACTTCTC	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	AAATACTTCTC	AAATACTTCTC	-	-	AAATACTTCTC	AAATACTTCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:172571287_172571297delAAATACTTCTC	ENST00000263688.3	+	21	3321_3331	c.3102_3112delAAATACTTCTC	c.(3100-3114)cgaaatacttctcaafs	p.NTSQ1035fs	SUCO_ENST00000608151.1_Frame_Shift_Del_p.NTSQ1187fs|SUCO_ENST00000367723.4_Frame_Shift_Del_p.NTSQ1186fs|SUCO_ENST00000610051.1_Frame_Shift_Del_p.NTSQ664fs	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1035					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AGCGTTGTCGAAATACTTCTCAATTTGATGG	0.336																																						ENST00000367723.3		NA																	0					NA						c.(3556-3570)cgaaatacttctcaafs		SUN domain containing ossification factor																																				SO:0001589	frameshift_variant	51430							g.chr1:172571287_172571297delAAATACTTCTC	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3102_3112delAAATACTTCTC	1.37:g.172571287_172571297delAAATACTTCTC	ENSP00000263688:p.Asn1035fs	False	False		Somatic	1				SUCO_ENST00000486569.1_3'UTR|SUCO_ENST00000263688.3_Frame_Shift_Del_p.NTSQ1035fs	p.NTSQ1187fs	NM_016227.2	NP_057311.2	WXS	Illumina HiSeq	Phase_I					20	3682_3692	+			NA					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Frame_Shift_Del	DEL	ENST00000263688.3	37	c.3558_3568delAAATACTTCTC	CCDS1303.1																																																																																				0.336	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	0	NM_016227		1:172571287
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316																																						ENST00000367618.3		NA																	1	Deletion - In frame(1)	p.E991_Q992delEQ(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2968-2976)gaagaacaa>gaa		axonemal dynein light chain domain containing 1				750,3386		64,622,1382						-7.3	0.0		dbSNP_131	50	2737,5481		321,2095,1693	no	coding	AXDND1	NM_144696.4		385,2717,3075	A1A1,A1R,RR		33.3049,18.1335,28.2257				3487,8867				SO:0001651	inframe_deletion	126859							g.chr1:179504035_179504040delAAGAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2969_2974delAAGAAC	1.37:g.179504035_179504040delAAGAAC	ENSP00000356590:p.Glu991_Gln992del	True	False		Somatic	1					p.EQ991del	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			25	3356_3361	+			991		E -> Q (in dbSNP:rs6425573).	Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	c.2969_2974delAAGAAC	CCDS30948.1																																																																																				0.316	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179504035
TNRC6C	57690	broad.mit.edu	37	17	76047129	76047153	+	Frame_Shift_Del	DEL	CCCCCAACAGAACTGGGCTAGCAAA	CCCCCAACAGAACTGGGCTAGCAAA	-	rs114241857|rs373111046	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CCCCCAACAGAACTGGGCTAGCAAA	CCCCCAACAGAACTGGGCTAGCAAA	-	-	CCCCCAACAGAACTGGGCTAGCAAA	CCCCCAACAGAACTGGGCTAGCAAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	ENST00000588061.1	+	5	2713_2737	c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	c.(1984-2010)ggcccccaacagaactgggctagcaaafs	p.GPQQNWASK662fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.GPQQNWASK662fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	662	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAAAACCTGGCCCCCAACAGAACTGGGCTAGCAAACCCCAAGACA	0.538																																						ENST00000588847.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1984-2010)ggcccccaacagaactgggctagcaaafs		trinucleotide repeat containing 6C																																				SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	17.37:g.76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	ENSP00000468647:p.Gly662fs	False	False		Somatic	1				TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.GPQQNWASK662fs	p.GPQQNWASK662fs			WXS	Illumina HiSeq	Phase_I	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		5	2713_2737	+			662			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	CCDS45798.1																																																																																				0.538	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	0	NM_018996		17:76047129
ARID3A	1820	broad.mit.edu	37	19	971935	971936	+	Frame_Shift_Del	DEL	GC	GC	-	rs138086881	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:971935_971936delGC	ENST00000263620.3	+	9	1979_1980	c.1652_1653delGC	c.(1651-1653)ggcfs	p.G556fs		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	556	Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}.		G -> S (in dbSNP:rs1051505). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9780002}.			cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAAGGAggcggcggcggcg	0.653																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(1651-1653)ggcfs		AT rich interactive domain 3A (BRIGHT-like)																																				SO:0001589	frameshift_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:971935_971936delGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1652_1653delGC	19.37:g.971935_971936delGC	ENSP00000263620:p.Gly556fs	True	False		Somatic	1					p.G556fs	NM_005224.2	NP_005215.1	WXS	Illumina HiSeq	Phase_I	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1979_1980	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	556		G -> S (in dbSNP:rs1051505).	Gly-rich.|Important for cytoplasmic localization (By similarity).		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Frame_Shift_Del	DEL	ENST00000263620.3	37	c.1652_1653delGC	CCDS12050.1																																																																																				0.653	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	0	NM_005224		19:971935
RSPH6A	81492	broad.mit.edu	37	19	46299149	46299150	+	In_Frame_Ins	INS	-	-	CCTCCTCCTCCTCGC			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:46299149_46299150insCCTCCTCCTCCTCGC	ENST00000221538.3	-	6	2273_2274	c.2131_2132insGCGAGGAGGAGGAGG	c.(2131-2133)gag>gGCGAGGAGGAGGAGGag	p.710_711insGEEEE	RSPH6A_ENST00000600188.1_In_Frame_Ins_p.446_447insGEEEE|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	710	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ctcctcgccctcctcctcctcc	0.559																																						ENST00000221538.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2131-2133)gag>gGCGAGGAGGAGGAGGag		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001652	inframe_insertion	81492					intracellular		g.chr19:46299149_46299150insCCTCCTCCTCCTCGC	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2117_2131dupGCGAGGAGGAGGAGG	19.37:g.46299149_46299150insCCTCCTCCTCCTCGC	ENSP00000221538:p.Gly706_Glu710dup	True	False		Somatic	0				RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Ins_p.446_447insGEEEE	p.710_711insGEEEE	NM_030785.3	NP_110412.1	WXS	Illumina HiSeq	Phase_I	Q9H0K4	RSH6A_HUMAN			6	2273_2274	-			710			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Ins	INS	ENST00000221538.3	37	c.2131_2132insGCGAGGAGGAGGAGG	CCDS12675.1																																																																																				0.559	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1	0			19:46299149
PIR	8544	broad.mit.edu	37	X	15497935	15497946	+	Splice_Site	DEL	GATTTTTTAACT	GATTTTTTAACT	-	rs545530472		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GATTTTTTAACT	GATTTTTTAACT	-	-	GATTTTTTAACT	GATTTTTTAACT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:15497935_15497946delGATTTTTTAACT	ENST00000380421.3	-	3	557_566	c.97_106delAGTTAAAAAATC	c.(97-108)agttaaaaaatc>tc	p.S*KI33del	PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Splice_Site_p.S*KI33del|BMX_ENST00000357607.2_Intron	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	33					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AACGGATCCAGATTTTTTAACTGAAATAAAAA	0.335																																					Ovarian(180;1587 2015 10555 34192 51653)	ENST00000380421.3		NA																	0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(97-108)agttaaaaaatc>tc		pirin (iron-binding nuclear protein)																																				SO:0001630	splice_region_variant	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15497935_15497946delGATTTTTTAACT	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.97-1AGTTAAAAAATC>-	X.37:g.15497935_15497946delGATTTTTTAACT		True	False		Somatic	1				PIR_ENST00000380420.5_Splice_Site_p.S*KI33del|PIR_ENST00000476381.1_5'UTR|BMX_ENST00000357607.2_Intron	p.S*KI33del	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	WXS	Illumina HiSeq	Phase_I	O00625	PIR_HUMAN			3	557_566	-	Hepatocellular(33;0.183)		33					Q5U0G0|Q6FHD2	Splice_Site	DEL	ENST00000380421.3	37	c.97_106delAGTTAAAAAATC	CCDS14167.1																																																																																				0.335	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	0	NM_003662	In_Frame_Del	X:15497935
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000409547.1		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2938-2940)caadel		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del	True	False		Somatic	1				GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del	p.Q984del	NM_015575.3	NP_056390.2	WXS	Illumina HiSeq	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3249_3251	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2938_2940delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	0	NM_001103146		2:233708804
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
ZNF608	57507	broad.mit.edu	37	5	123980108	123980111	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	TCTT	TCTT	-	-	TCTT	TCTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:123980108_123980111delTCTT	ENST00000306315.5	-	5	4384_4387	c.3949_3952delAAGA	c.(3949-3954)aagactfs	p.KT1317fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.KT890fs|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1317							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCACAGGAGTCTTTCGATCATCA	0.461																																						ENST00000306315.5		NA																	0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3949-3954)aagactfs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123980108_123980111delTCTT	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3949_3952delAAGA	5.37:g.123980108_123980111delTCTT	ENSP00000307746:p.Lys1317fs	True	False		Somatic	1				ZNF608_ENST00000504926.1_Frame_Shift_Del_p.KT890fs	p.KT1317fs	NM_020747.2	NP_065798.2	WXS	Illumina HiSeq	Phase_I	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	5	4384_4387	-		all_cancers(142;0.186)|Prostate(80;0.081)	1317					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Del	DEL	ENST00000306315.5	37	c.3949_3952delAAGA	CCDS34219.1																																																																																				0.461	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	0	XM_114432		5:123980108
MACF1	23499	broad.mit.edu	37	1	39800921	39800922	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:39800921_39800922delCT	ENST00000372915.3	+	36	8763_8764	c.8676_8677delCT	c.(8674-8679)tactctfs	p.S2893fs	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Del_p.S2888fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.S2925fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.S1328fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2893					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACACCCTTACTCTGAATGTGA	0.332																																						ENST00000372915.3		NA																	0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8674-8679)tactctfs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800921_39800922delCT	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8676_8677delCT	1.37:g.39800923_39800924delCT	ENSP00000362006:p.Ser2893fs	False	False		Somatic	2				MACF1_ENST00000567887.1_Frame_Shift_Del_p.S2925fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Del_p.S1328fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Del_p.S2888fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron	p.S2893fs			WXS	Illumina HiSeq	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		36	8763_8764	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2893					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	ENST00000372915.3	37	c.8676_8677delCT																																																																																					0.332	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	NM_033044		1:39800921
RAPGEF6	51735	broad.mit.edu	37	5	130766686	130766687	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:130766686_130766687insAA	ENST00000509018.1	-	26	4535_4536	c.4330_4331insTT	c.(4330-4332)gaafs	p.E1444fs	RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.E1457fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.E1452fs|CTC-432M15.3_ENST00000514667.1_Frame_Shift_Ins_p.E1494fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.E1452fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1444					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAGTTTGGTTCATACGTGTCA	0.47																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000507093.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4354-4356)gaafs		Rap guanine nucleotide exchange factor (GEF) 6																																				SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766686_130766687insAA	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4330_4331insTT	5.37:g.130766686_130766687insAA	ENSP00000421684:p.Glu1444fs	False	False		Somatic	0				RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.E1452fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.E1457fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.E1494fs|RAPGEF6_ENST00000509018.1_Frame_Shift_Ins_p.E1444fs	p.E1452fs	NM_001164388.1	NP_001157860.1	WXS	Illumina HiSeq	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	27	4535_4536	-			1444		Q -> R (in dbSNP:rs1291602).			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Ins	INS	ENST00000509018.1	37	c.4354_4355insTT	CCDS34225.1																																																																																				0.470	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	0	NM_016340		5:130766686
RAPGEF6	51735	broad.mit.edu	37	5	130766688	130766689	+	In_Frame_Ins	INS	-	-	CTGCTGCACATATCCATTCACAGT			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:130766688_130766689insCTGCTGCACATATCCATTCACAGT	ENST00000509018.1	-	26	4533_4534	c.4328_4329insACTGTGAATGGATATGTGCAGCAG	c.(4327-4329)tat>taACTGTGAATGGATATGTGCAGCAGt	p.1443_1443Y>*L*MDMCSS	RAPGEF6_ENST00000307984.5_In_Frame_Ins_p.1456_1456Y>*L*MDMCSS|RAPGEF6_ENST00000296859.6_In_Frame_Ins_p.1451_1451Y>*L*MDMCSS|CTC-432M15.3_ENST00000514667.1_In_Frame_Ins_p.1493_1493Y>*L*MDMCSS|RAPGEF6_ENST00000507093.1_In_Frame_Ins_p.1451_1451Y>*L*MDMCSS	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1443					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGTTTGGTTCATACGTGTCAGA	0.48																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000507093.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4351-4353)tat>taACTGTGAATGGATATGTGCAGCAGt		Rap guanine nucleotide exchange factor (GEF) 6																																				SO:0001652	inframe_insertion	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766688_130766689insCTGCTGCACATATCCATTCACAGT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4328_4329insACTGTGAATGGATATGTGCAGCAG	5.37:g.130766688_130766689insCTGCTGCACATATCCATTCACAGT	ENSP00000421684:p.Tyr1443delins*Leu*MetAspMetCysSerSer	False	False		Somatic	0				RAPGEF6_ENST00000296859.6_In_Frame_Ins_p.1451_1451Y>*L*MDMCSS|RAPGEF6_ENST00000307984.5_In_Frame_Ins_p.1456_1456Y>*L*MDMCSS|FNIP1_ENST00000514667.1_In_Frame_Ins_p.1493_1493Y>*L*MDMCSS|RAPGEF6_ENST00000509018.1_In_Frame_Ins_p.1443_1443Y>*L*MDMCSS	p.1451_1451Y>*L*MDMCSS	NM_001164388.1	NP_001157860.1	WXS	Illumina HiSeq	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	27	4533_4534	-			1443					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	In_Frame_Ins	INS	ENST00000509018.1	37	c.4352_4353insACTGTGAATGGATATGTGCAGCAG	CCDS34225.1																																																																																				0.480	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	0	NM_016340		5:130766688
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
MRPS18B	28973	broad.mit.edu	37	6	30587358	30587359	+	In_Frame_Ins	INS	-	-	GAAATATCT			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:30587358_30587359insGAAATATCT	ENST00000259873.4	+	2	324_325	c.167_168insGAAATATCT	c.(166-171)tggaaa>tgGAAATATCTgaaa	p.57_58insYLK	PPP1R10_ENST00000376511.2_5'Flank|PPP1R10_ENST00000484449.1_5'Flank|MRPS18B_ENST00000506373.2_In_Frame_Ins_p.57_58insYLK|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	57					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GATGAGCCCTGGAAATATCTGG	0.49																																						ENST00000259873.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						c.(166-171)tggaaa>tgGAAATATCTgaaa		mitochondrial ribosomal protein S18B																																				SO:0001652	inframe_insertion	28973				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:30587358_30587359insGAAATATCT	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.168_176dupGAAATATCT	6.37:g.30587359_30587367dupGAAATATCT	ENSP00000259873:p.Lys57_Tyr58insTyrLeuLys	True	False		Somatic	1				MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_In_Frame_Ins_p.57_58insYLK	p.57_58insYLK	NM_014046.3	NP_054765.1	WXS	Illumina HiSeq	Phase_I	Q9Y676	RT18B_HUMAN			2	324_325	+			57					A6NDQ0|Q659G4|Q9BS27	In_Frame_Ins	INS	ENST00000259873.4	37	c.167_168insGAAATATCT	CCDS4682.1																																																																																				0.490	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2	0			6:30587358
CBX3	11335	broad.mit.edu	37	7	26246131	26246144	+	Splice_Site	DEL	GTAAGAAACTTTAG	GTAAGAAACTTTAG	-	rs201557283|rs370499819		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GTAAGAAACTTTAG	GTAAGAAACTTTAG	-	-	GTAAGAAACTTTAG	GTAAGAAACTTTAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:26246131_26246144delGTAAGAAACTTTAG	ENST00000337620.4	+	3	595		c.e3+1		CBX3_ENST00000409747.1_Splice_Site|CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000497498.1_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						GATTTACAGAGTAAGAAACTTTAGTGCATCTTTA	0.369																																						ENST00000337620.4		NA																	0				endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						c.e3+1		chromobox homolog 3																																				SO:0001630	splice_region_variant	11335				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	g.chr7:26246131_26246144delGTAAGAAACTTTAG	U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.167+1GTAAGAAACTTTAG>-	7.37:g.26246131_26246144delGTAAGAAACTTTAG		True	False		Somatic	1				CBX3_ENST00000409747.1_Splice_Site|CBX3_ENST00000497498.1_Splice_Site|CBX3_ENST00000396386.2_Splice_Site		NM_007276.4	NP_009207.2	WXS	Illumina HiSeq	Phase_I	Q13185	CBX3_HUMAN			3	595	+			NA					Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Splice_Site	DEL	ENST00000337620.4	37		CCDS5398.1																																																																																				0.369	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	0	NM_007276	Intron	7:26246131
ABCA1	19	broad.mit.edu	37	9	107591266	107591282	+	Frame_Shift_Del	DEL	CCAGAGGATGCTGTTGT	CCAGAGGATGCTGTTGT	-	rs144845639|rs2853579	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CCAGAGGATGCTGTTGT	CCAGAGGATGCTGTTGT	-	-	CCAGAGGATGCTGTTGT	CCAGAGGATGCTGTTGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:107591266_107591282delCCAGAGGATGCTGTTGT	ENST00000374736.3	-	15	2424_2440	c.2030_2046delACAACAGCATCCTCTGG	c.(2029-2046)gacaacagcatcctctggfs	p.DNSILW677fs	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	677					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACCAGCTAAACCAGAGGATGCTGTTGTCCAGGCCCAT	0.539																																						ENST00000374736.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2029-2046)gacaacagcatcctctggfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107591266_107591282delCCAGAGGATGCTGTTGT	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2030_2046delACAACAGCATCCTCTGG	9.37:g.107591266_107591282delCCAGAGGATGCTGTTGT	ENSP00000363868:p.Asp677fs	False	False		Somatic	1				ABCA1_ENST00000494467.1_5'UTR	p.DNSILW677fs	NM_005502.3	NP_005493.2	WXS	Illumina HiSeq	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	15	2424_2440	-			677					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Del	DEL	ENST00000374736.3	37	c.2030_2046delACAACAGCATCCTCTGG	CCDS6762.1																																																																																				0.539	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	0	NM_005502		9:107591266
JOSD1	9929	broad.mit.edu	37	22	39084975	39084975	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:39084975C>A	ENST00000216039.5	-	3	1153	c.474G>T	c.(472-474)aaG>aaT	p.K158N		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	158	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					ACTCGGGCATCTTGAGTTTGG	0.547																																						ENST00000216039.5		NA																	0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(472-474)aaG>aaT		Josephin domain containing 1							127.0	108.0	114.0					22																	39084975		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39084975C>A		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.474G>T	22.37:g.39084975C>A	ENSP00000216039:p.Lys158Asn	False	False		Somatic	0					p.K158N	NM_014876.5	NP_055691.1	WXS	Illumina HiSeq	Phase_I	Q15040	JOS1_HUMAN			3	1153	-	Melanoma(58;0.04)		158			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.474G>T	CCDS13976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.42|15.42	2.826872|2.826872	0.50739|0.50739	.|.	.|.	ENSG00000100221|ENSG00000100221	ENST00000545590|ENST00000216039	.|T	.|0.42900	.|0.96	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.046800	.|0.85682	.|D	.|0.000000	T|T	0.33990|0.33990	0.0882|0.0882	L|L	0.38953|0.38953	1.18|1.18	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.14438	.|0.01	.|B	.|0.19666	.|0.026	T|T	0.08006|0.08006	-1.0743|-1.0743	5|10	.|0.27082	.|T	.|0.32	.|.	12.9775|12.9775	0.58546|0.58546	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|158	.|Q15040	.|JOS1_HUMAN	Y|N	110|158	.|ENSP00000216039:K158N	.|ENSP00000216039:K158N	D|K	-|-	1|3	0|2	JOSD1|JOSD1	37414921|37414921	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	2.113000|2.113000	0.41902|0.41902	2.647000|2.647000	0.89833|0.89833	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.547	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	0	NM_014876		22:39084975
CABP1	9478	broad.mit.edu	37	12	121098645	121098645	+	Splice_Site	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:121098645T>C	ENST00000316803.3	+	4	1073		c.e4+2		CABP1_ENST00000453000.1_Splice_Site|CABP1_ENST00000288616.3_Splice_Site|CABP1_ENST00000351200.2_Splice_Site	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCGAGAGGTAACGGACAGA	0.498																																						ENST00000453000.1		NA																	0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.e4+2		calcium binding protein 1							113.0	110.0	111.0					12																	121098645		2203	4300	6503	SO:0001630	splice_region_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098645T>C	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.939+2T>C	12.37:g.121098645T>C		False	False		Somatic	0				CABP1_ENST00000288616.3_Splice_Site|CABP1_ENST00000351200.2_Splice_Site|CABP1_ENST00000316803.3_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q9NZU7	CABP1_HUMAN			4	1259	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		NA					O95663|Q8N6H5|Q9NZU8	Splice_Site	SNP	ENST00000316803.3	37		CCDS31913.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177845	0.57692	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	.	.	.	5.25	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0835	0.25244	0.1314:0.0726:0.0:0.796	.	.	.	.	.	-1	.	.	.	+	.	.	CABP1	119583028	0.809000	0.29036	0.875000	0.34327	0.825000	0.46686	0.594000	0.24014	0.850000	0.35239	0.528000	0.53228	.		0.498	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	0	NM_001033677	Intron	12:121098645
AKAP8	10270	broad.mit.edu	37	19	15483674	15483674	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:15483674C>T	ENST00000269701.2	-	5	909	c.849G>A	c.(847-849)cgG>cgA	p.R283R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	283					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GATCCCGATCCCGCATCCGAG	0.592																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2		NA																	0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(847-849)cgG>cgA		A kinase (PRKA) anchor protein 8							23.0	25.0	25.0					19																	15483674		2203	4299	6502	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15483674C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.849G>A	19.37:g.15483674C>T		True	False		Somatic	0					p.R283R	NM_005858.3	NP_005849.1	WXS	Illumina HiSeq	Phase_I	O43823	AKAP8_HUMAN			5	909	-			283						Silent	SNP	ENST00000269701.2	37	c.849G>A	CCDS12329.1																																																																																				0.592	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	0	NM_005858		19:15483674
PLK4	10733	broad.mit.edu	37	4	128816239	128816239	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:128816239G>C	ENST00000270861.5	+	14	2968	c.2694G>C	c.(2692-2694)tgG>tgC	p.W898C	PLK4_ENST00000507249.1_Missense_Mutation_p.W837C|PLK4_ENST00000514379.1_Missense_Mutation_p.W857C|PLK4_ENST00000513090.1_Missense_Mutation_p.W866C|PLK4_ENST00000515069.1_Missense_Mutation_p.W820C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	898	POLO box. {ECO:0000255|PROSITE- ProRule:PRU00154}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGTTGGTTGGGCTACACAGG	0.323																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2692-2694)tgG>tgC		polo-like kinase 4							111.0	114.0	113.0					4																	128816239		2203	4300	6503	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128816239G>C	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2694G>C	4.37:g.128816239G>C	ENSP00000270861:p.Trp898Cys	True	False		Somatic	0				PLK4_ENST00000513090.1_Missense_Mutation_p.W866C|PLK4_ENST00000514379.1_Missense_Mutation_p.W857C|PLK4_ENST00000515069.1_Missense_Mutation_p.W820C|PLK4_ENST00000507249.1_Missense_Mutation_p.W837C	p.W898C	NM_014264.4	NP_055079.3	WXS	Illumina HiSeq	Phase_I	O00444	PLK4_HUMAN			14	2968	+			898			POLO box.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2694G>C	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548975	0.45383	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.25	4.37	0.52481	POLO box duplicated domain (2);	0.056561	0.85682	D	0.000000	T	0.12475	0.0303	L	0.35723	1.085	0.80722	D	1	B;B	0.33494	0.01;0.414	B;B	0.38378	0.034;0.272	T	0.06232	-1.0838	10	0.52906	T	0.07	-1.8738	15.0412	0.71793	0.0:0.0:0.8575:0.1425	.	866;898	O00444-2;O00444	.;PLK4_HUMAN	C	898;820;866;837;857;144	ENSP00000270861:W898C;ENSP00000421774:W820C;ENSP00000427554:W866C;ENSP00000423412:W837C;ENSP00000423582:W857C;ENSP00000427568:W144C	ENSP00000270861:W898C	W	+	3	0	PLK4	129035689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.950000	0.70265	2.730000	0.93505	0.479000	0.44913	TGG		0.323	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3	0			4:128816239
SDK1	221935	broad.mit.edu	37	7	4247761	4247761	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:4247761G>A	ENST00000404826.2	+	37	5384	c.5245G>A	c.(5245-5247)Gaa>Aaa	p.E1749K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1749	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCCAGAACGAAACGGAGAA	0.552																																						ENST00000404826.2		NA																	0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(5245-5247)Gaa>Aaa		sidekick cell adhesion molecule 1							79.0	79.0	79.0					7																	4247761		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4247761G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5245G>A	7.37:g.4247761G>A	ENSP00000385899:p.Glu1749Lys	True	False		Somatic	0				SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K	p.E1749K	NM_152744.3	NP_689957.3	WXS	Illumina HiSeq	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	37	5384	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1749			Fibronectin type-III 11.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.5245G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302508	0.23736	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53640	0.61;0.61	4.67	3.77	0.43336	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.667620	0.13455	N	0.386599	T	0.41604	0.1166	M	0.66560	2.04	0.28442	N	0.916768	P;B;B	0.37158	0.585;0.034;0.249	B;B;B	0.29524	0.103;0.015;0.082	T	0.33394	-0.9870	10	0.22706	T	0.39	.	12.5036	0.55970	0.0817:0.0:0.9183:0.0	.	1729;236;1749	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	K	1749;1729	ENSP00000385899:E1749K;ENSP00000374182:E1729K	ENSP00000374182:E1729K	E	+	1	0	SDK1	4214287	1.000000	0.71417	0.571000	0.28486	0.426000	0.31534	4.633000	0.61318	2.302000	0.77476	0.655000	0.94253	GAA		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	NM_152744		7:4247761
TMEM52	339456	broad.mit.edu	37	1	1849760	1849760	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:1849760G>A	ENST00000310991.3	-	4	288	c.281C>T	c.(280-282)gCa>gTa	p.A94V	TMEM52_ENST00000378602.3_Missense_Mutation_p.A79V	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	94						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGCTGCCGTGCTGGTGGCAG	0.637																																						ENST00000378602.3		NA																	0				NS(1)|prostate(1)|stomach(1)	3						c.(235-237)gCa>gTa		transmembrane protein 52							47.0	49.0	48.0					1																	1849760		2203	4297	6500	SO:0001583	missense	339456					integral to membrane		g.chr1:1849760G>A	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.281C>T	1.37:g.1849760G>A	ENSP00000311122:p.Ala94Val	False	False		Somatic	0				TMEM52_ENST00000310991.3_Missense_Mutation_p.A94V	p.A79V			WXS	Illumina HiSeq	Phase_I	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	476	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	94					Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	37	c.236C>T	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.317752	0.23994	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.38401	1.14;1.14	3.71	1.75	0.24633	.	1.039220	0.07675	N	0.936067	T	0.33294	0.0858	L	0.40543	1.245	0.09310	N	1	P;P	0.50819	0.884;0.939	B;P	0.48524	0.396;0.58	T	0.16660	-1.0395	10	0.48119	T	0.1	-8.9629	2.56	0.04770	0.1093:0.1857:0.5143:0.1906	.	94;79	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	V	79;94	ENSP00000367865:A79V;ENSP00000311122:A94V	ENSP00000311122:A94V	A	-	2	0	TMEM52	1839620	0.010000	0.17322	0.000000	0.03702	0.009000	0.06853	1.727000	0.38095	0.188000	0.20168	0.511000	0.50034	GCA		0.637	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	0	NM_178545		1:1849760
PEG10	23089	broad.mit.edu	37	7	94293789	94293789	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:94293789T>A	ENST00000482108.1	+	2	1400	c.921T>A	c.(919-921)aaT>aaA	p.N307K	PEG10_ENST00000488574.1_Missense_Mutation_p.N307K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	307					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACGCTGACAATTGTCCTGCCA	0.582																																						ENST00000482108.1		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(919-921)aaT>aaA		paternally expressed 10							20.0	25.0	24.0					7																	94293789		1953	4145	6098	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293789T>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.921T>A	7.37:g.94293789T>A	ENSP00000417587:p.Asn307Lys	False	False		Somatic	0				PEG10_ENST00000488574.1_Missense_Mutation_p.N307K	p.N307K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	WXS	Illumina HiSeq	Phase_I	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1400	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		307					Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.921T>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279380	0.23307	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.76186	-1.0;-1.0	4.42	1.51	0.23008	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	.	.	.	.	T	0.54013	0.1832	N	0.19112	0.55	0.22684	N	0.998851	B;B	0.13145	0.007;0.001	B;B	0.12156	0.007;0.002	T	0.36163	-0.9759	9	0.29301	T	0.29	.	4.0781	0.09914	0.0:0.5347:0.1743:0.291	.	383;307	B4DSP0;Q86TG7	.;PEG10_HUMAN	K	307	ENSP00000417587:N307K;ENSP00000418944:N307K	ENSP00000417587:N307K	N	+	3	2	PEG10	94131725	0.214000	0.23563	0.998000	0.56505	0.920000	0.55202	0.218000	0.17622	0.203000	0.20529	-0.262000	0.10625	AAT		0.582	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	0	NM_015068		7:94293789
KCNQ3	3786	broad.mit.edu	37	8	133184899	133184899	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:133184899T>A	ENST00000388996.4	-	7	1506	c.1086A>T	c.(1084-1086)caA>caT	p.Q362H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q242H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q362H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	362					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTGACGGTGTTGCTCCTGCA	0.587																																						ENST00000388996.4		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1084-1086)caA>caT		potassium voltage-gated channel, KQT-like subfamily, member 3							193.0	146.0	162.0					8																	133184899		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133184899T>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1086A>T	8.37:g.133184899T>A	ENSP00000373648:p.Gln362His	False	False		Somatic	0				KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q242H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q362H	p.Q362H	NM_004519.3	NP_004510.1	WXS	Illumina HiSeq	Phase_I	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		7	1506	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		362					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1086A>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525173	0.64747	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99186	-5.52;-5.44;-5.53	5.0	-2.3	0.06785	.	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	L	0.56396	1.775	0.46654	D	0.999145	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.993	D	0.97346	0.9960	10	0.87932	D	0	-21.3538	11.8756	0.52546	0.0:0.3411:0.0:0.6589	.	362;362	E7ET42;O43525	.;KCNQ3_HUMAN	H	362;242;362;351;241	ENSP00000373648:Q362H;ENSP00000429799:Q242H;ENSP00000428790:Q362H	ENSP00000373648:Q362H	Q	-	3	2	KCNQ3	133254081	0.890000	0.30428	0.991000	0.47740	0.984000	0.73092	0.009000	0.13219	-0.300000	0.08895	-0.315000	0.08773	CAA		0.587	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	0	NM_004519		8:133184899
C2CD5	9847	broad.mit.edu	37	12	22637787	22637787	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:22637787C>A	ENST00000333957.4	-	13	1649	c.1394G>T	c.(1393-1395)tGt>tTt	p.C465F	C2CD5_ENST00000396028.2_Missense_Mutation_p.C456F|C2CD5_ENST00000446597.1_Missense_Mutation_p.C465F|C2CD5_ENST00000542676.1_Missense_Mutation_p.C465F|C2CD5_ENST00000544930.1_Missense_Mutation_p.C280F|C2CD5_ENST00000545552.1_Missense_Mutation_p.C478F|C2CD5_ENST00000536386.1_Missense_Mutation_p.C467F	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	465					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TGGTATATGACAAAATCCACA	0.279																																						ENST00000333957.4		NA																	0					NA						c.(1393-1395)tGt>tTt		C2 calcium-dependent domain containing 5							77.0	73.0	74.0					12																	22637787		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22637787C>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1394G>T	12.37:g.22637787C>A	ENSP00000334229:p.Cys465Phe	True	False		Somatic	0				C2CD5_ENST00000545552.1_Missense_Mutation_p.C478F|C2CD5_ENST00000542676.1_Missense_Mutation_p.C465F|C2CD5_ENST00000544930.1_Missense_Mutation_p.C280F|C2CD5_ENST00000536386.1_Missense_Mutation_p.C467F|C2CD5_ENST00000396028.2_Missense_Mutation_p.C456F|C2CD5_ENST00000446597.1_Missense_Mutation_p.C465F	p.C465F	NM_014802.1	NP_055617.1	WXS	Illumina HiSeq	Phase_I					13	1649	-			NA					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1394G>T	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.71|14.71	2.616724|2.616724	0.46736|0.46736	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000535555	T;T;T;T;T;T;T|.	0.61510|.	0.1;0.1;0.1;0.1;0.1;0.1;0.1|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69913|0.69913	0.3164|0.3164	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D|.	0.76494|.	0.849;0.995;0.995;0.996;0.999;0.966|.	P;P;D;D;D;P|.	0.85130|.	0.61;0.903;0.963;0.94;0.997;0.735|.	T|T	0.66806|0.66806	-0.5830|-0.5830	10|5	0.35671|.	T|.	0.21|.	-7.9035|-7.9035	18.8114|18.8114	0.92059|0.92059	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	467;465;280;467;456;465|.	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7|.	.;.;.;.;.;K0528_HUMAN|.	F|F	465;465;467;456;465;478;280|162	ENSP00000334229:C465F;ENSP00000388756:C465F;ENSP00000439392:C467F;ENSP00000379345:C456F;ENSP00000441951:C465F;ENSP00000443204:C478F;ENSP00000445288:C280F|.	ENSP00000334229:C465F|.	C|L	-|-	2|3	0|2	KIAA0528|KIAA0528	22529054|22529054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	5.318000|5.318000	0.65829|0.65829	2.422000|2.422000	0.82143|0.82143	0.650000|0.650000	0.86243|0.86243	TGT|TTG		0.279	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	0	NM_014802		12:22637787
POTEG	404785	broad.mit.edu	37	14	19566012	19566012	+	Splice_Site	SNP	A	A	C	rs542455346	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:19566012A>C	ENST00000409832.3	+	6	1108	c.1056A>C	c.(1054-1056)gtA>gtC	p.V352V	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	352										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTATACATAGAATTTGCCAGT	0.269													A|||	2	0.000399361	0.0	0.0	5008	,	,		35095	0.0		0.0	False		,,,				2504	0.002					ENST00000409832.3		NA																	0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1054-1056)gtA>gtC		POTE ankyrin domain family, member G							38.0	47.0	44.0					14																	19566012		1464	2606	4070	SO:0001630	splice_region_variant	404785							g.chr14:19566012A>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1056-1A>C	14.37:g.19566012A>C		False	False		Somatic	0				CTD-2311B13.5_ENST00000548748.1_lincRNA	p.V352V	NM_001005356.2	NP_001005356.1	WXS	Illumina HiSeq	Phase_I	Q6S5H5	POTEG_HUMAN			6	1108	+			352					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Splice_Site	SNP	ENST00000409832.3	37	c.1056A>C	CCDS32018.1																																																																																				0.269	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	0	NM_001005356	Silent	14:19566012
KIAA0195	9772	broad.mit.edu	37	17	73488859	73488859	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:73488859C>T	ENST00000314256.7	+	15	2295	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	KIAA0195_ENST00000579208.1_Missense_Mutation_p.A285V|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A644V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	634						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGAGCTTGCCCGCCTCATT	0.647																																						ENST00000314256.7		NA																	0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(1900-1902)gCc>gTc		KIAA0195							53.0	53.0	53.0					17																	73488859		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73488859C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1901C>T	17.37:g.73488859C>T	ENSP00000313885:p.Ala634Val	True	False		Somatic	0				KIAA0195_ENST00000579208.1_Missense_Mutation_p.A285V|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A644V	p.A634V	NM_014738.4	NP_055553.3	WXS	Illumina HiSeq	Phase_I	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	2295	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		634					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.1901C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088956	0.55968	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.87650	-2.28;-2.28	5.77	5.77	0.91146	.	0.053643	0.85682	D	0.000000	D	0.86251	0.5888	L	0.54323	1.7	0.80722	D	1	B;B;B	0.34329	0.079;0.449;0.321	B;B;B	0.33960	0.043;0.173;0.084	D	0.85706	0.1316	10	0.62326	D	0.03	-29.8003	19.9787	0.97318	0.0:1.0:0.0:0.0	.	644;644;634	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	V	634;644	ENSP00000313885:A634V;ENSP00000364397:A644V	ENSP00000313885:A634V	A	+	2	0	KIAA0195	71000454	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.785000	0.68998	2.733000	0.93635	0.561000	0.74099	GCC		0.647	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	0	NM_014738		17:73488859
AMPD3	272	broad.mit.edu	37	11	10500085	10500085	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:10500085C>G	ENST00000396554.3	+	3	602	c.261C>G	c.(259-261)ttC>ttG	p.F87L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	78					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAAAAGTTTCAAGATGATTC	0.537																																						ENST00000396554.3		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(259-261)ttC>ttG		adenosine monophosphate deaminase 3							156.0	186.0	176.0					11																	10500085		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10500085C>G	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.261C>G	11.37:g.10500085C>G	ENSP00000379802:p.Phe87Leu	True	False		Somatic	0				AMPD3_ENST00000444303.2_Intron	p.F87L	NM_000480.2	NP_000471.1	WXS	Illumina HiSeq	Phase_I	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	602	+			78					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.261C>G	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538677	0.45176	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.6	3.69	0.42338	.	0.092497	0.85682	D	0.000000	T	0.36441	0.0967	L	0.47716	1.5	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.10917	-1.0609	10	0.18276	T	0.48	-21.7032	8.8973	0.35472	0.0:0.7682:0.0:0.2318	.	85;78;87	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	L	78;87;78;78;85;78	ENSP00000432707:F78L;ENSP00000379802:F87L;ENSP00000433284:F78L;ENSP00000379801:F78L;ENSP00000436987:F85L;ENSP00000431648:F78L	ENSP00000379801:F78L	F	+	3	2	AMPD3	10456661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.165000	0.31822	0.690000	0.31570	0.643000	0.83706	TTC		0.537	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	0	NM_000480		11:10500085
PC	5091	broad.mit.edu	37	11	66638342	66638342	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:66638342G>C	ENST00000393958.2	-	7	748	c.655C>G	c.(655-657)Cgg>Ggg	p.R219G	PC_ENST00000393960.1_Missense_Mutation_p.R219G|PC_ENST00000393955.2_Missense_Mutation_p.R219G|PC_ENST00000355677.3_Missense_Mutation_p.R219G|PC_ENST00000524491.1_Missense_Mutation_p.R179G	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	219	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GAGTAGGCCCGGGTGTAATTC	0.622																																						ENST00000393960.1		NA																	0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(655-657)Cgg>Ggg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						93.0	109.0	104.0					11																	66638342		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638342G>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.655C>G	11.37:g.66638342G>C	ENSP00000377530:p.Arg219Gly	True	False		Somatic	0				PC_ENST00000524491.1_Missense_Mutation_p.R179G|PC_ENST00000393958.2_Missense_Mutation_p.R219G|PC_ENST00000355677.3_Missense_Mutation_p.R219G|PC_ENST00000393955.2_Missense_Mutation_p.R219G	p.R219G	NM_001040716.1	NP_001035806.1	WXS	Illumina HiSeq	Phase_I	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	8	936	-		Melanoma(852;0.0525)	219			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.655C>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886144	0.72410	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55;-4.55	5.29	3.36	0.38483	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	L	0.50993	1.605	0.58432	D	0.999999	D	0.69078	0.997	D	0.72625	0.978	D	0.97373	0.9977	10	0.87932	D	0	-25.086	11.4232	0.49993	0.0:0.0:0.5249:0.4751	.	219	P11498	PYC_HUMAN	G	219;219;219;179;219	ENSP00000377527:R219G;ENSP00000377530:R219G;ENSP00000377532:R219G;ENSP00000434192:R179G;ENSP00000347900:R219G	ENSP00000347900:R219G	R	-	1	2	PC	66394918	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.531000	0.45650	0.584000	0.29591	0.462000	0.41574	CGG		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	0	NM_001040716		11:66638342
SIPA1L3	23094	broad.mit.edu	37	19	38590667	38590667	+	Silent	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:38590667G>T	ENST00000222345.6	+	5	2240	c.1731G>T	c.(1729-1731)ggG>ggT	p.G577G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	577					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGGGACCGGGCGGGGCCTGC	0.632																																						ENST00000222345.6		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1729-1731)ggG>ggT		signal-induced proliferation-associated 1 like 3							67.0	62.0	63.0					19																	38590667		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38590667G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1731G>T	19.37:g.38590667G>T		True	False		Somatic	0					p.G577G	NM_015073.1	NP_055888.1	WXS	Illumina HiSeq	Phase_I	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	2240	+			577					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.1731G>T	CCDS33007.1																																																																																				0.632	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	0	XM_032278		19:38590667
TOP3B	8940	broad.mit.edu	37	22	22316871	22316871	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:22316871C>T	ENST00000398793.2	-	13	1889	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	TOP3B_ENST00000357179.5_Silent_p.E485E|TOP3B_ENST00000413067.2_Silent_p.E214E	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	485					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCGTCTGCTTCTCCAGCATCT	0.662																																						ENST00000398793.2		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1453-1455)gaG>gaA		topoisomerase (DNA) III beta							85.0	72.0	77.0					22																	22316871		2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22316871C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1455G>A	22.37:g.22316871C>T		False	False		Somatic	0				TOP3B_ENST00000357179.5_Silent_p.E485E|TOP3B_ENST00000413067.2_Silent_p.E214E	p.E485E	NM_003935.3	NP_003926.1	WXS	Illumina HiSeq	Phase_I	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	13	1889	-	Colorectal(54;0.105)		485					A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.1455G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946274	0.18356	.	.	ENSG00000100038	ENST00000457270	.	.	.	5.12	4.1	0.47936	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55231	-0.8173	4	.	.	.	.	8.1485	0.31126	0.0:0.7409:0.0:0.2591	.	.	.	.	K	280	.	.	R	-	2	0	TOP3B	20646871	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.352000	0.52239	1.141000	0.42275	0.563000	0.77884	AGA		0.662	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	0	NM_003935		22:22316871
MCOLN2	255231	broad.mit.edu	37	1	85417986	85417986	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:85417986G>A	ENST00000370608.3	-	6	754	c.687C>T	c.(685-687)ggC>ggT	p.G229G	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.G201G	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	229					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GTAGGTCAATGCCTTTAAGAT	0.328																																						ENST00000370608.3		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(685-687)ggC>ggT		mucolipin 2							98.0	98.0	98.0					1																	85417986		2203	4300	6503	SO:0001819	synonymous_variant	255231					integral to membrane	ion channel activity	g.chr1:85417986G>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.687C>T	1.37:g.85417986G>A		False	False		Somatic	0				MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.G201G	p.G229G	NM_153259.2	NP_694991.2	WXS	Illumina HiSeq	Phase_I	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	6	754	-			229					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Silent	SNP	ENST00000370608.3	37	c.687C>T	CCDS30762.1																																																																																				0.328	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	0	NM_153259		1:85417986
PXDN	7837	broad.mit.edu	37	2	1653014	1653014	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:1653014G>A	ENST00000252804.4	-	17	2588	c.2538C>T	c.(2536-2538)caC>caT	p.H846H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	846					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTTGCTGCAGTGCTGTCCGT	0.647																																						ENST00000252804.4		NA																	0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2536-2538)caC>caT		peroxidasin homolog (Drosophila)							33.0	36.0	35.0					2																	1653014		2189	4284	6473	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653014G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2538C>T	2.37:g.1653014G>A		False	False		Somatic	0					p.H846H	NM_012293.1	NP_036425.1	WXS	Illumina HiSeq	Phase_I	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2588	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	846					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2538C>T	CCDS46221.1																																																																																				0.647	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	0	XM_056455		2:1653014
WIPI1	55062	broad.mit.edu	37	17	66430734	66430734	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430734C>A	ENST00000262139.5	-	7	654	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	WIPI1_ENST00000546360.1_Missense_Mutation_p.G137W|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	219					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AGCTTTTGCCCATCAGGGACA	0.498																																						ENST00000262139.5		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(655-657)Ggg>Tgg		WD repeat domain, phosphoinositide interacting 1							90.0	87.0	88.0					17																	66430734		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66430734C>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.655G>T	17.37:g.66430734C>A	ENSP00000262139:p.Gly219Trp	True	False		Somatic	0				WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.G137W	p.G219W	NM_017983.5	NP_060453.3	WXS	Illumina HiSeq	Phase_I	Q5MNZ9	WIPI1_HUMAN			7	654	-			219					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.655G>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559525	0.86335	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.57595	0.39;2.03	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.105797	0.64402	D	0.000004	T	0.80788	0.4690	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85997	0.1492	10	0.87932	D	0	-22.2488	19.0599	0.93085	0.0:1.0:0.0:0.0	.	219	Q5MNZ9	WIPI1_HUMAN	W	219;137	ENSP00000262139:G219W;ENSP00000437345:G137W	ENSP00000262139:G219W	G	-	1	0	WIPI1	63942329	1.000000	0.71417	0.936000	0.37596	0.891000	0.51852	7.326000	0.79133	2.505000	0.84491	0.485000	0.47835	GGG		0.498	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	0	NM_017983		17:66430734
F5	2153	broad.mit.edu	37	1	169510226	169510226	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510226G>A	ENST00000367797.3	-	13	4303	c.4102C>T	c.(4102-4104)Cta>Tta	p.L1368L	F5_ENST00000367796.3_Silent_p.L1373L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1368	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGAGGTCTAGAGAAAGGGTT	0.522																																						ENST00000367796.3		NA																	0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4117-4119)Cta>Tta		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						163.0	180.0	174.0					1																	169510226		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510226G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4102C>T	1.37:g.169510226G>A		False	False		Somatic	0				F5_ENST00000367797.3_Silent_p.L1368L	p.L1373L			WXS	Illumina HiSeq	Phase_I	P12259	FA5_HUMAN			13	4318	-	all_hematologic(923;0.208)		1368			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.4117C>T	CCDS1281.1																																																																																				0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	NM_000130		1:169510226
ADAMTS1	9510	broad.mit.edu	37	21	28214913	28214913	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:28214913G>A	ENST00000284984.3	-	2	1276	c.822C>T	c.(820-822)caC>caT	p.H274H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	274	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GACCACTGCCGTGGAATTCTG	0.483																																						ENST00000284984.3		NA																	0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(820-822)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 1							80.0	71.0	74.0					21																	28214913		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28214913G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.822C>T	21.37:g.28214913G>A		False	False		Somatic	0					p.H274H	NM_006988.3	NP_008919.3	WXS	Illumina HiSeq	Phase_I	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	2	1276	-		Breast(209;0.000962)	NA			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.822C>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	9.460	1.092734	0.20471	.	.	ENSG00000154734	ENST00000451462	.	.	.	5.44	-1.59	0.08453	.	.	.	.	.	T	0.58509	0.2127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56481	-0.7972	4	.	.	.	.	12.2727	0.54716	0.6587:0.0:0.3413:0.0	.	.	.	.	M	56	.	.	T	-	2	0	ADAMTS1	27136784	0.097000	0.21791	0.993000	0.49108	0.987000	0.75469	-0.483000	0.06536	-0.211000	0.10124	-0.768000	0.03414	ACG		0.483	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2	0			21:28214913
EPB41L4B	54566	broad.mit.edu	37	9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A	rs201598200		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19497	0.0		0.0	False		,,,				2504	0.001					ENST00000374566.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1813-1815)gCg>gTg		erythrocyte membrane protein band 4.1 like 4B		G	VAL/ALA	0,3688		0,0,1844	130.0	118.0	121.0		1814	5.5	0.1	9		121	4,8220		0,4,4108	yes	missense	EPB41L4B	NM_019114.3	64	0,4,5952	AA,AG,GG		0.0486,0.0,0.0336	benign	605/901	111970268	4,11908	1844	4112	5956	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111970268G>A	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1814C>T	9.37:g.111970268G>A	ENSP00000363694:p.Ala605Val	False	False		Somatic	0					p.A605V	NM_019114.3	NP_061987.3	WXS	Illumina HiSeq	Phase_I	Q9H329	E41LB_HUMAN			18	2331	-			605					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1814C>T	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711206	0.48517	0.0	4.86E-4	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84516	-1.86	5.49	5.49	0.81192	.	0.000000	0.39834	N	0.001248	T	0.78130	0.4235	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.12156	0.007	T	0.75255	-0.3382	10	0.87932	D	0	.	16.9032	0.86118	0.0:0.0:1.0:0.0	.	605	Q9H329	E41LB_HUMAN	V	290;605	ENSP00000363694:A605V	ENSP00000262536:A290V	A	-	2	0	EPB41L4B	111010089	0.984000	0.35163	0.130000	0.21974	0.350000	0.29205	4.611000	0.61162	2.583000	0.87209	0.561000	0.74099	GCG		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	0	NM_018424		9:111970268
LSM14B	149986	broad.mit.edu	37	20	60701454	60701454	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60701454G>A	ENST00000279068.6	+	3	546	c.386G>A	c.(385-387)aGc>aAc	p.S129N	LSM14B_ENST00000370915.1_Missense_Mutation_p.S129N|LSM14B_ENST00000253001.4_Missense_Mutation_p.S129N	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	129					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTGGCGGCCAGCTCCCTGCTC	0.627																																						ENST00000253001.4		NA																	0				endometrium(3)|kidney(1)|lung(4)	8						c.(385-387)aGc>aAc		LSM14B, SCD6 homolog B (S. cerevisiae)							35.0	39.0	38.0					20																	60701454		2028	4169	6197	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701454G>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.386G>A	20.37:g.60701454G>A	ENSP00000279068:p.Ser129Asn	False	False		Somatic	0				LSM14B_ENST00000279068.6_Missense_Mutation_p.S129N|LSM14B_ENST00000370915.1_Missense_Mutation_p.S129N	p.S129N			WXS	Illumina HiSeq	Phase_I	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	592	+	Breast(26;3.97e-09)		129					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.386G>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724866	0.68959	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T;T	0.55588	0.88;0.87;0.9;0.51	5.42	5.42	0.78866	.	0.162938	0.64402	D	0.000002	T	0.56001	0.1956	M	0.75264	2.295	0.40246	D	0.978013	B;P;P;P;B	0.44429	0.134;0.647;0.799;0.835;0.047	B;B;B;B;B	0.41666	0.037;0.146;0.156;0.363;0.031	T	0.63056	-0.6722	10	0.49607	T	0.09	.	14.7797	0.69756	0.0:0.144:0.856:0.0	.	10;10;129;155;129	E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2	.;.;LS14B_HUMAN;.;.	N	129;129;129;10;155;129;10;10	ENSP00000279068:S129N;ENSP00000253001:S129N;ENSP00000383172:S155N;ENSP00000355209:S10N	ENSP00000253001:S129N	S	+	2	0	LSM14B	60134849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.436000	0.66538	2.529000	0.85273	0.511000	0.50034	AGC		0.627	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	0	NM_144703		20:60701454
PAPPA2	60676	broad.mit.edu	37	1	176659486	176659486	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176659486G>A	ENST00000367662.3	+	5	3515	c.2351G>A	c.(2350-2352)cGg>cAg	p.R784Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R784Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	784					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGTGCCGGGAACCAGAG	0.577																																						ENST00000367662.3		NA																	0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2350-2352)cGg>cAg		pappalysin 2							88.0	92.0	90.0					1																	176659486		1966	4133	6099	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659486G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2351G>A	1.37:g.176659486G>A	ENSP00000356634:p.Arg784Gln	True	False		Somatic	0				PAPPA2_ENST00000367661.3_Missense_Mutation_p.R784Q	p.R784Q	NM_020318.2	NP_064714.2	WXS	Illumina HiSeq	Phase_I	Q9BXP8	PAPP2_HUMAN			5	3515	+			784					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2351G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	2.709	-0.269311	0.05716	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.29917	4.8;1.55	5.51	-1.73	0.08081	Peptidase M43, pregnancy-associated plasma-A (1);	0.652550	0.16106	N	0.229335	T	0.17704	0.0425	N	0.25647	0.755	0.30128	N	0.805098	B;B	0.24483	0.104;0.024	B;B	0.21917	0.037;0.012	T	0.34750	-0.9816	10	0.09843	T	0.71	-0.187	13.3144	0.60399	0.3731:0.0:0.6269:0.0	.	784;784	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Q	784	ENSP00000356634:R784Q;ENSP00000356633:R784Q	ENSP00000356633:R784Q	R	+	2	0	PAPPA2	174926109	1.000000	0.71417	0.863000	0.33907	0.014000	0.08584	1.367000	0.34204	-0.594000	0.05836	-0.251000	0.11542	CGG		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	0			1:176659486
SPATA31D5P	347127	broad.mit.edu	37	9	84528377	84528377	+	RNA	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:84528377C>G	ENST00000527857.1	+	0	26					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCATGCTATTCAAACCATGGA	0.458																																						ENST00000527857.1		NA																	0					NA																																														0							g.chr9:84528377C>G			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84528377C>G		True	False		Somatic	0						NR_026851.1		WXS	Illumina HiSeq	Phase_I					0	26	+			NA						RNA	SNP	ENST00000527857.1	37																																																																																						0.458	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	0	NR_026851		9:84528377
TMEM53	79639	broad.mit.edu	37	1	45120689	45120689	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:45120689G>C	ENST00000372237.3	-	3	539	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V	TMEM53_ENST00000372235.3_Missense_Mutation_p.L96V|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.L126V|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	126						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTCTGCAGGAGCTCCAGCACG	0.612											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372237.3		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(376-378)Ctc>Gtc		transmembrane protein 53							50.0	51.0	51.0					1																	45120689		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120689G>C		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.376C>G	1.37:g.45120689G>C	ENSP00000361311:p.Leu126Val	False	False		Somatic	0	OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929	TMEM53_ENST00000372235.3_Missense_Mutation_p.L96V|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372242.3_Missense_Mutation_p.L126V|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron	p.L126V	NM_024587.2	NP_078863.2	WXS	Illumina HiSeq	Phase_I	Q6P2H8	TMM53_HUMAN			3	539	-	Acute lymphoblastic leukemia(166;0.155)		126					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.376C>G	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521758	0.64747	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.67	5.67	0.87782	.	0.129271	0.52532	D	0.000064	T	0.69305	0.3096	M	0.67953	2.075	0.58432	D	0.999997	D	0.69078	0.997	D	0.70716	0.97	T	0.65278	-0.6207	9	0.22706	T	0.39	.	10.263	0.43438	0.0751:0.1477:0.7771:0.0	.	126	Q6P2H8	TMM53_HUMAN	V	126;126;96;95	.	ENSP00000361309:L96V	L	-	1	0	TMEM53	44893276	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.322000	0.52007	2.687000	0.91594	0.563000	0.77884	CTC		0.612	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	0	NM_024587		1:45120689
RNF125	54941	broad.mit.edu	37	18	29622203	29622203	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr18:29622203G>C	ENST00000217740.3	+	3	872	c.380G>C	c.(379-381)gGa>gCa	p.G127A	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	127					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GATAAGTATGGACCACTACAA	0.328																																						ENST00000217740.3		NA																	0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(379-381)gGa>gCa		ring finger protein 125, E3 ubiquitin protein ligase							81.0	78.0	79.0					18																	29622203		2203	4300	6503	SO:0001583	missense	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29622203G>C	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.380G>C	18.37:g.29622203G>C	ENSP00000217740:p.Gly127Ala	False	False		Somatic	0				RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	p.G127A	NM_017831.3	NP_060301.2	WXS	Illumina HiSeq	Phase_I	Q96EQ8	RN125_HUMAN			3	872	+			127					Q9NX39	Missense_Mutation	SNP	ENST00000217740.3	37	c.380G>C	CCDS11902.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686264	0.47991	.	.	ENSG00000101695	ENST00000217740	D	0.82255	-1.59	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000024	D	0.88040	0.6330	L	0.54323	1.7	0.50813	D	0.999893	D	0.76494	0.999	D	0.83275	0.996	T	0.83353	-0.0002	10	0.13853	T	0.58	0.442	16.7717	0.85539	0.0:0.0:1.0:0.0	.	127	Q96EQ8	RN125_HUMAN	A	127	ENSP00000217740:G127A	ENSP00000217740:G127A	G	+	2	0	RNF125	27876201	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.059000	0.64306	2.767000	0.95098	0.563000	0.77884	GGA		0.328	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	0	NM_017831		18:29622203
EIF3F	8665	broad.mit.edu	37	11	8014505	8014505	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:8014505A>C	ENST00000533626.1	+	6	1213	c.587A>C	c.(586-588)aAc>aCc	p.N196T	EIF3F_ENST00000537635.1_Missense_Mutation_p.N211T|EIF3F_ENST00000449102.2_Missense_Mutation_p.N47T|EIF3F_ENST00000309828.4_Missense_Mutation_p.N196T					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGGCCCCCAACCCCATCCAC	0.557																																						ENST00000533626.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(586-588)aAc>aCc		eukaryotic translation initiation factor 3, subunit F							104.0	95.0	98.0					11																	8014505		2201	4293	6494	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8014505A>C	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.587A>C	11.37:g.8014505A>C	ENSP00000431800:p.Asn196Thr	True	False		Somatic	0				EIF3F_ENST00000309828.4_Missense_Mutation_p.N196T|EIF3F_ENST00000449102.2_Missense_Mutation_p.N47T|EIF3F_ENST00000537635.1_Missense_Mutation_p.N211T	p.N196T			WXS	Illumina HiSeq	Phase_I	O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	1213	+			196			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.587A>C	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586482	0.86851	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.47869	1.39;1.39;1.39;0.83	4.97	4.97	0.65823	.	0.042963	0.85682	D	0.000000	T	0.67221	0.2870	M	0.77406	2.37	0.80722	D	1	D	0.56521	0.976	D	0.67725	0.953	T	0.71490	-0.4577	10	0.66056	D	0.02	-18.8904	13.2394	0.59987	1.0:0.0:0.0:0.0	.	196	O00303	EIF3F_HUMAN	T	196;211;196;146;47	ENSP00000431800:N196T;ENSP00000442283:N211T;ENSP00000310040:N196T;ENSP00000396929:N47T	ENSP00000310040:N196T	N	+	2	0	EIF3F	7971081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.162000	0.58177	2.158000	0.67659	0.460000	0.39030	AAC		0.557	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	0	NM_003754		11:8014505
SPP2	6694	broad.mit.edu	37	2	234959698	234959698	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234959698A>T	ENST00000168148.3	+	2	257	c.169A>T	c.(169-171)Agt>Tgt	p.S57C	SPP2_ENST00000373368.1_Missense_Mutation_p.S57C|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	57					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CCAGTCACTGAGTCCGTATCT	0.468																																						ENST00000168148.3		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(169-171)Agt>Tgt		secreted phosphoprotein 2, 24kDa							115.0	100.0	105.0					2																	234959698		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234959698A>T		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.169A>T	2.37:g.234959698A>T	ENSP00000168148:p.Ser57Cys	False	False		Somatic	0				SPP2_ENST00000373368.1_Missense_Mutation_p.S57C|SPP2_ENST00000492481.1_3'UTR	p.S57C	NM_006944.2	NP_008875.1	WXS	Illumina HiSeq	Phase_I	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	2	257	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	57					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.169A>T	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077136	0.55753	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.51071	0.72;0.72	5.39	3.07	0.35406	.	0.136200	0.52532	D	0.000071	T	0.60392	0.2265	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.49341	-0.8950	10	0.62326	D	0.03	-31.8015	6.1693	0.20408	0.8066:0.0:0.1934:0.0	.	57	Q13103	SPP24_HUMAN	C	57	ENSP00000362466:S57C;ENSP00000168148:S57C	ENSP00000168148:S57C	S	+	1	0	SPP2	234624437	0.997000	0.39634	0.772000	0.31596	0.826000	0.46750	1.596000	0.36718	0.903000	0.36546	0.533000	0.62120	AGT		0.468	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	0	NM_006944		2:234959698
ASTN2	23245	broad.mit.edu	37	9	120053699	120053699	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:120053699C>A	ENST00000313400.4	-	2	636	c.536G>T	c.(535-537)aGc>aTc	p.S179I	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.S179I|ASTN2_ENST00000361209.2_Missense_Mutation_p.S179I			O75129	ASTN2_HUMAN	astrotactin 2	179					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGCCCGGAGCTGCTCATGGA	0.592																																						ENST00000313400.4		NA																	0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(535-537)aGc>aTc		astrotactin 2							65.0	63.0	63.0					9																	120053699		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:120053699C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.536G>T	9.37:g.120053699C>A	ENSP00000314038:p.Ser179Ile	False	False		Somatic	0				ASTN2_ENST00000373996.3_Missense_Mutation_p.S179I|ASTN2_ENST00000361209.2_Missense_Mutation_p.S179I|ASTN2_ENST00000361477.3_5'UTR	p.S179I			WXS	Illumina HiSeq	Phase_I	O75129	ASTN2_HUMAN			2	636	-			179					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.536G>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.209137	0.79240	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.11495	2.8;2.8;2.77	5.58	5.58	0.84498	.	0.141111	0.56097	D	0.000032	T	0.15046	0.0363	N	0.19112	0.55	0.38032	D	0.935204	P;P;D	0.61080	0.911;0.855;0.989	P;B;P	0.58820	0.563;0.36;0.846	T	0.08126	-1.0737	9	.	.	.	-29.8448	13.1929	0.59722	0.0:0.9271:0.0:0.0729	.	179;179;179	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	I	179	ENSP00000314038:S179I;ENSP00000363108:S179I;ENSP00000354504:S179I	.	S	-	2	0	ASTN2	119093520	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.132000	0.50523	2.782000	0.95742	0.655000	0.94253	AGC		0.592	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		0	NM_014010		9:120053699
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
HYPM	25763	broad.mit.edu	37	X	37850202	37850202	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:37850202A>T	ENST00000341016.3	+	1	133	c.110A>T	c.(109-111)cAa>cTa	p.Q37L	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		37										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CGCGTTGTGCAAGATGAACGA	0.478																																						ENST00000341016.3		NA																	0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						c.(109-111)cAa>cTa		chromosome X open reading frame 27							87.0	81.0	83.0					X																	37850202		2011	4167	6178	SO:0001583	missense	25763						DNA binding	g.chrX:37850202A>T																												ENST00000341016.3:c.110A>T	X.37:g.37850202A>T	ENSP00000339511:p.Gln37Leu	False	False		Somatic	0				TM4SF2_ENST00000465127.1_Intron	p.Q37L	NM_012274.1	NP_036406.1	WXS	Illumina HiSeq	Phase_I	O75409	HYPM_HUMAN			1	133	+			37					A1A4D3	Missense_Mutation	SNP	ENST00000341016.3	37	c.110A>T	CCDS43929.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616948	0.46736	.	.	ENSG00000187516	ENST00000341016	T	0.48836	0.8	3.7	-3.49	0.04724	Histone-fold (2);	.	.	.	.	T	0.53238	0.1784	L	0.48642	1.525	0.09310	N	1	D	0.65815	0.995	D	0.63877	0.919	T	0.52305	-0.8593	9	0.59425	D	0.04	.	9.1117	0.36732	0.443:0.0:0.557:0.0	.	37	O75409	HYPM_HUMAN	L	37	ENSP00000339511:Q37L	ENSP00000339511:Q37L	Q	+	2	0	CXorf27	37735146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.197000	0.17197	-0.845000	0.04179	0.417000	0.27973	CAA		0.478	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1	0			X:37850202
RNF38	152006	broad.mit.edu	37	9	36351123	36351123	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351123C>G	ENST00000259605.6	-	9	1359	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	RNF38_ENST00000350199.4_Missense_Mutation_p.E335Q|RNF38_ENST00000377877.4_Missense_Mutation_p.E342Q|RNF38_ENST00000357058.3_Missense_Mutation_p.E335Q|RNF38_ENST00000353739.4_Missense_Mutation_p.E368Q|RNF38_ENST00000377885.2_Missense_Mutation_p.E335Q	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	418					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TCGTAATTTTCTACTTCTCCA	0.378																																						ENST00000357058.3		NA																	0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(1003-1005)Gaa>Caa		ring finger protein 38							86.0	82.0	83.0					9																	36351123		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36351123C>G		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1252G>C	9.37:g.36351123C>G	ENSP00000259605:p.Glu418Gln	True	False		Somatic	0				RNF38_ENST00000353739.4_Missense_Mutation_p.E368Q|RNF38_ENST00000350199.4_Missense_Mutation_p.E335Q|RNF38_ENST00000377877.4_Missense_Mutation_p.E342Q|RNF38_ENST00000377885.2_Missense_Mutation_p.E335Q|RNF38_ENST00000259605.6_Missense_Mutation_p.E418Q	p.E335Q	NM_194328.2	NP_919309.1	WXS	Illumina HiSeq	Phase_I	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		9	1609	-			418			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.1003G>C	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499260	0.85069	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.16073	2.37;2.4;2.41;2.41;2.41;2.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.999	D;D;D	0.87578	0.998;0.958;0.995	T	0.22138	-1.0225	10	0.66056	D	0.02	-6.4143	16.4624	0.84064	0.0:1.0:0.0:0.0	.	342;368;418	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	Q	418;368;335;335;335;235;342;342	ENSP00000259605:E418Q;ENSP00000335239:E368Q;ENSP00000367117:E335Q;ENSP00000349566:E335Q;ENSP00000343947:E335Q;ENSP00000367109:E342Q	ENSP00000259605:E418Q	E	-	1	0	RNF38	36341123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.103000	0.77014	2.553000	0.86117	0.563000	0.77884	GAA		0.378	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	0	NM_022781		9:36351123
ZNF608	57507	broad.mit.edu	37	5	123984759	123984759	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:123984759A>T	ENST00000306315.5	-	4	1753	c.1318T>A	c.(1318-1320)Tct>Act	p.S440T	ZNF608_ENST00000504926.1_Missense_Mutation_p.S13T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	440							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAGCAGCAGACCTCGCTCTC	0.597																																						ENST00000306315.5		NA																	0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1318-1320)Tct>Act		zinc finger protein 608							31.0	34.0	33.0					5																	123984759		2202	4296	6498	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984759A>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1318T>A	5.37:g.123984759A>T	ENSP00000307746:p.Ser440Thr	True	False		Somatic	0				ZNF608_ENST00000504926.1_Missense_Mutation_p.S13T	p.S440T	NM_020747.2	NP_065798.2	WXS	Illumina HiSeq	Phase_I	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1753	-		all_cancers(142;0.186)|Prostate(80;0.081)	440					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1318T>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027154	0.35797	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.45276	0.93;0.9	5.26	5.26	0.73747	.	0.178789	0.50627	D	0.000117	T	0.22166	0.0534	N	0.14661	0.345	0.30518	N	0.768777	B	0.02656	0.0	B	0.06405	0.002	T	0.18304	-1.0341	10	0.08837	T	0.75	-13.6396	9.307	0.37881	0.7225:0.0:0.0:0.2775	.	440	Q9ULD9	ZN608_HUMAN	T	13;440;440;440	ENSP00000427657:S13T;ENSP00000307746:S440T	ENSP00000307746:S440T	S	-	1	0	ZNF608	124012658	0.999000	0.42202	0.853000	0.33588	0.600000	0.36913	1.070000	0.30653	1.989000	0.58080	0.445000	0.29226	TCT		0.597	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	0	XM_114432		5:123984759
LIMCH1	22998	broad.mit.edu	37	4	41605916	41605916	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:41605916G>A	ENST00000313860.7	+	5	423	c.369G>A	c.(367-369)ctG>ctA	p.L123L	LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000512820.1_Silent_p.L123L|LIMCH1_ENST00000512632.1_Silent_p.L123L|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000508501.1_Silent_p.L123L|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000512946.1_Silent_p.L123L|LIMCH1_ENST00000513024.1_5'UTR	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	123	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTAGGAAGCTGAAAAATGTAA	0.338																																						ENST00000313860.7		NA																	0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(367-369)ctG>ctA		LIM and calponin homology domains 1							111.0	111.0	111.0					4																	41605916		2202	4297	6499	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41605916G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.369G>A	4.37:g.41605916G>A		True	False		Somatic	0				LIMCH1_ENST00000508501.1_Silent_p.L123L|LIMCH1_ENST00000512632.1_Silent_p.L123L|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000512946.1_Silent_p.L123L|LIMCH1_ENST00000512820.1_Silent_p.L123L|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR	p.L123L	NM_014988.2	NP_055803.2	WXS	Illumina HiSeq	Phase_I	Q9UPQ0	LIMC1_HUMAN			5	423	+			123			CH.		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.369G>A	CCDS33977.1																																																																																				0.338	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	0	NM_014988		4:41605916
CCNL1	57018	broad.mit.edu	37	3	156866115	156866115	+	Missense_Mutation	SNP	C	C	T	rs202095674		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:156866115C>T	ENST00000295926.3	-	11	1614	c.1496G>A	c.(1495-1497)cGt>cAt	p.R499H	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	499					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGATCGTTCACGCCTGTCCCT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19074	0.001		0.0	False		,,,				2504	0.0					ENST00000295926.3		NA																	0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(1495-1497)cGt>cAt		cyclin L1		C	HIS/ARG	0,4406		0,0,2203	218.0	185.0	196.0		1496	4.3	0.8	3		196	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCNL1	NM_020307.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	499/527	156866115	1,13005	2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866115C>T	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1496G>A	3.37:g.156866115C>T	ENSP00000295926:p.Arg499His	False	False		Somatic	0				CCNL1_ENST00000461804.1_Intron	p.R499H	NM_020307.2	NP_064703.1	WXS	Illumina HiSeq	Phase_I	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	1614	-			499					B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.1496G>A	CCDS3178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.15	2.746831	0.49257	0.0	1.16E-4	ENSG00000163660	ENST00000295926	T	0.22945	1.93	5.2	4.32	0.51571	.	0.110120	0.53938	D	0.000041	T	0.24967	0.0606	L	0.54323	1.7	0.80722	D	1	P	0.42584	0.784	B	0.38616	0.277	T	0.03025	-1.1081	10	0.27785	T	0.31	-1.4904	13.7858	0.63108	0.0:0.9257:0.0:0.0743	.	499	Q9UK58	CCNL1_HUMAN	H	499	ENSP00000295926:R499H	ENSP00000295926:R499H	R	-	2	0	CCNL1	158348809	0.999000	0.42202	0.844000	0.33320	0.808000	0.45660	4.102000	0.57776	1.314000	0.45095	0.557000	0.71058	CGT		0.512	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	0	NM_020307		3:156866115
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448																																						ENST00000296677.4		NA																	1	Substitution - Missense(1)	p.R365H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1093-1095)cGc>cAc		coagulation factor II (thrombin) receptor-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	221.0	222.0	222.0		1094	4.4	0.6	5	dbSNP_134	222	0,8600		0,0,4300	no	missense	F2RL1	NM_005242.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	365/398	76129526	1,13005	2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129526G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1094G>A	5.37:g.76129526G>A	ENSP00000296677:p.Arg365His	False	False		Somatic	0					p.R365H	NM_005242.4	NP_005233	WXS	Illumina HiSeq	Phase_I	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1300	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	365					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1094G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192238	0.58017	2.27E-4	0.0	ENSG00000164251	ENST00000296677	T	0.40225	1.04	5.3	4.43	0.53597	.	0.111618	0.64402	D	0.000013	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63726	-0.6572	9	.	.	.	-18.6704	13.8882	0.63721	0.0735:0.0:0.9265:0.0	.	365	P55085	PAR2_HUMAN	H	365	ENSP00000296677:R365H	.	R	+	2	0	F2RL1	76165282	1.000000	0.71417	0.640000	0.29408	0.271000	0.26615	9.808000	0.99193	1.236000	0.43740	-0.136000	0.14681	CGC		0.448	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2	0			5:76129526
TMPRSS3	64699	broad.mit.edu	37	21	43815480	43815480	+	Missense_Mutation	SNP	C	C	T	rs369418733		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:43815480C>T	ENST00000291532.3	-	2	1002	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	16					cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAAAAGCGATCGGAATGAGAA	0.517																																						ENST00000291532.3		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(46-48)cGa>cAa		transmembrane protease, serine 3		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	102.0	107.0		47,47	4.5	1.0	21		107	0,8600		0,0,4300	no	missense,missense	TMPRSS3	NM_024022.2,NM_032405.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	16/455,16/345	43815480	1,13005	2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43815480C>T	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.47G>A	21.37:g.43815480C>T	ENSP00000291532:p.Arg16Gln	False	False		Somatic	0				TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q	p.R16Q	NM_032404.2	NP_115780.1	WXS	Illumina HiSeq	Phase_I	P57727	TMPS3_HUMAN			2	1002	-			16					D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.47G>A	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916630	0.73098	2.27E-4	0.0	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.88354	-2.33;-2.33;-2.33;-2.37;-2.33	5.39	4.5	0.54988	.	0.132141	0.36628	N	0.002499	T	0.80276	0.4593	N	0.19112	0.55	0.28577	N	0.910325	D;P;P	0.57899	0.981;0.948;0.913	B;B;B	0.43916	0.436;0.237;0.12	T	0.74551	-0.3628	9	.	.	.	.	9.3585	0.38182	0.0:0.904:0.0:0.096	.	16;16;16	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	Q	16;16;16;100;16	ENSP00000291532:R16Q;ENSP00000411013:R16Q;ENSP00000381442:R16Q;ENSP00000369762:R100Q;ENSP00000381434:R16Q	.	R	-	2	0	TMPRSS3	42688549	0.993000	0.37304	0.956000	0.39512	0.959000	0.62525	1.712000	0.37940	2.691000	0.91804	0.655000	0.94253	CGA		0.517	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1	0			21:43815480
SUSD2	56241	broad.mit.edu	37	22	24579030	24579030	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:24579030C>G	ENST00000358321.3	+	2	343	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	28	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCCAGATGCCCAAGAGAGCTG	0.642																																						ENST00000358321.3		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(82-84)Caa>Gaa		sushi domain containing 2							55.0	65.0	62.0					22																	24579030		2202	4300	6502	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579030C>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.82C>G	22.37:g.24579030C>G	ENSP00000351075:p.Gln28Glu	True	False		Somatic	0					p.Q28E	NM_019601.3	NP_062547.1	WXS	Illumina HiSeq	Phase_I	Q9UGT4	SUSD2_HUMAN			2	343	+			28			SMB.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.82C>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156549	0.21454	.	.	ENSG00000099994	ENST00000358321	T	0.42131	0.98	3.49	3.49	0.39957	Somatomedin B domain (3);	0.591391	0.14759	N	0.300115	T	0.35856	0.0946	L	0.54323	1.7	0.09310	N	1	B	0.33000	0.393	B	0.33846	0.171	T	0.21965	-1.0230	10	0.41790	T	0.15	-6.7537	7.0078	0.24846	0.0:0.8753:0.0:0.1247	.	28	Q9UGT4	SUSD2_HUMAN	E	28	ENSP00000351075:Q28E	ENSP00000351075:Q28E	Q	+	1	0	SUSD2	22909030	0.000000	0.05858	0.687000	0.30102	0.787000	0.44495	-0.114000	0.10757	2.007000	0.58848	0.449000	0.29647	CAA		0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	0	NM_019601		22:24579030
MAP4K5	11183	broad.mit.edu	37	14	50911762	50911762	+	Missense_Mutation	SNP	T	T	C	rs55815015	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:50911762T>C	ENST00000013125.4	-	18	1654	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	446			I -> V (in dbSNP:rs55815015). {ECO:0000269|PubMed:17344846}.		activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GCCATACCAATAGAAGAAGTC	0.413													T|||	9	0.00179712	0.0	0.0	5008	,	,		16081	0.0089		0.0	False		,,,				2504	0.0					ENST00000013125.4		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1336-1338)Att>Gtt		mitogen-activated protein kinase kinase kinase kinase 5							87.0	81.0	83.0					14																	50911762		1850	4093	5943	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50911762T>C	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1336A>G	14.37:g.50911762T>C	ENSP00000013125:p.Ile446Val	False	False		Somatic	0					p.I446V	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	WXS	Illumina HiSeq	Phase_I	Q9Y4K4	M4K5_HUMAN			18	1654	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		446		I -> V (in dbSNP:rs55815015).			Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.1336A>G		7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	T	8.406	0.843090	0.16963	.	.	ENSG00000012983	ENST00000013125	T	0.13657	2.57	5.38	-0.756	0.11057	Protein kinase-like domain (1);	0.528155	0.20244	N	0.096221	T	0.03095	0.0091	N	0.08118	0	0.36535	D	0.870936	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.09377	0.004;0.004;0.004	T	0.41305	-0.9516	10	0.15952	T	0.53	.	4.6228	0.12463	0.1045:0.0688:0.2378:0.5889	rs55815015	120;446;446	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	V	446	ENSP00000013125:I446V	ENSP00000013125:I446V	I	-	1	0	MAP4K5	49981512	0.750000	0.28316	0.991000	0.47740	0.887000	0.51463	-0.221000	0.09202	-0.008000	0.14320	-0.323000	0.08544	ATT		0.413	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	0	NM_006575		14:50911762
CCT6P3	643180	broad.mit.edu	37	7	64525391	64525391	+	RNA	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:64525391A>T	ENST00000426828.1	+	0	221				SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TTCAACACCCAACAGCTTCCT	0.383																																						ENST00000426828.1		NA																	0					NA																																														0							g.chr7:64525391A>T			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64525391A>T		True	False		Somatic	0						NR_033416.1		WXS	Illumina HiSeq	Phase_I					0	221	+			NA						RNA	SNP	ENST00000426828.1	37																																																																																						0.383	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1	0			7:64525391
CDH4	1002	broad.mit.edu	37	20	60511862	60511862	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60511862A>G	ENST00000360469.5	+	16	2700	c.2612A>G	c.(2611-2613)gAg>gGg	p.E871G	CDH4_ENST00000543233.1_Missense_Mutation_p.E797G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	871					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TTCGACTACGAGGGGAGCGGC	0.627																																						ENST00000360469.5		NA																	0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2611-2613)gAg>gGg		cadherin 4, type 1, R-cadherin (retinal)							48.0	46.0	47.0					20																	60511862		2203	4299	6502	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511862A>G	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2612A>G	20.37:g.60511862A>G	ENSP00000353656:p.Glu871Gly	True	False		Somatic	0				CDH4_ENST00000543233.1_Missense_Mutation_p.E797G	p.E871G	NM_001794.3	NP_001785.2	WXS	Illumina HiSeq	Phase_I	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2700	+			871					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2612A>G	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433272	0.83776	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.87966	-2.32;-2.32	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95944	0.8949	9	.	.	.	.	13.8037	0.63218	1.0:0.0:0.0:0.0	.	871	P55283	CADH4_HUMAN	G	871;779;797	ENSP00000353656:E871G;ENSP00000443301:E797G	.	E	+	2	0	CDH4	59945257	1.000000	0.71417	0.695000	0.30226	0.635000	0.38103	9.016000	0.93645	1.681000	0.50988	0.383000	0.25322	GAG		0.627	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	0	NM_001794		20:60511862
RBM24	221662	broad.mit.edu	37	6	17292038	17292038	+	Silent	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:17292038C>G	ENST00000379052.5	+	4	635	c.399C>G	c.(397-399)gtC>gtG	p.V133V	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Silent_p.V88V|RBM24_ENST00000425446.2_Silent_p.V75V	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	133					cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CGGGAGTGGTCATTCCACACG	0.542																																						ENST00000379052.5		NA																	0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(397-399)gtC>gtG		RNA binding motif protein 24							87.0	101.0	96.0					6																	17292038		2176	4286	6462	SO:0001819	synonymous_variant	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292038C>G	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.399C>G	6.37:g.17292038C>G		False	False		Somatic	0				RBM24_ENST00000318204.5_Silent_p.V88V|RBM24_ENST00000425446.2_Silent_p.V75V|RBM24_ENST00000508508.1_3'UTR	p.V133V	NM_001143942.1	NP_001137414.1	WXS	Illumina HiSeq	Phase_I	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	635	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	133					E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Silent	SNP	ENST00000379052.5	37	c.399C>G	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329137	0.24167	.	.	ENSG00000112183	ENST00000503965	.	.	.	5.71	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3684	3.4813	0.07603	0.3218:0.4196:0.1748:0.0839	.	.	.	.	X	98	.	.	S	+	2	0	RBM24	17400017	0.303000	0.24463	0.997000	0.53966	0.998000	0.95712	-0.217000	0.09253	0.020000	0.15106	0.591000	0.81541	TCA		0.542	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	0	NM_153020		6:17292038
CASS4	57091	broad.mit.edu	37	20	55033569	55033569	+	Silent	SNP	C	C	T	rs372142142		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:55033569C>T	ENST00000360314.3	+	7	2352	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000434344.1_Silent_p.V272V|CASS4_ENST00000371336.3_Silent_p.V709V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	709					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCAAGCTGGTCATCATGGTGG	0.617																																						ENST00000371336.3		NA																	0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(2125-2127)gtC>gtT		Cas scaffolding protein family member 4		C	,,,	1,4405	2.1+/-5.4	0,1,2202	92.0	78.0	83.0		1965,816,2127,2127	4.0	0.9	20		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CASS4	NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	655/733,272/350,709/787,709/787	55033569	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033569C>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2127C>T	20.37:g.55033569C>T		False	False		Somatic	0				CASS4_ENST00000434344.1_Silent_p.V272V|CASS4_ENST00000360314.3_Silent_p.V709V	p.V709V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	WXS	Illumina HiSeq	Phase_I	Q9NQ75	CASS4_HUMAN			6	2328	+			709					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.2127C>T	CCDS33492.1																																																																																				0.617	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	0	NM_020356		20:55033569
ADCY10	55811	broad.mit.edu	37	1	167830232	167830232	+	Silent	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:167830232G>T	ENST00000367851.4	-	15	1870	c.1686C>A	c.(1684-1686)gcC>gcA	p.A562A	ADCY10_ENST00000545172.1_Silent_p.A409A|ADCY10_ENST00000367848.1_Silent_p.A470A	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	562					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTAGGACATTGGCCATGAACA	0.373																																						ENST00000367848.1		NA																	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1408-1410)gcC>gcA		adenylate cyclase 10 (soluble)							174.0	166.0	169.0					1																	167830232		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167830232G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1686C>A	1.37:g.167830232G>T		False	False		Somatic	0				ADCY10_ENST00000545172.1_Silent_p.A409A|ADCY10_ENST00000367851.4_Silent_p.A562A	p.A470A			WXS	Illumina HiSeq	Phase_I	Q96PN6	ADCYA_HUMAN			15	1907	-			562					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.1410C>A	CCDS1265.1																																																																																				0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	0	NM_018417		1:167830232
TIMM10B	26515	broad.mit.edu	37	11	6503419	6503419	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:6503419G>A	ENST00000254616.6	+	3	350	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	TIMM10B_ENST00000472836.1_Missense_Mutation_p.E94K|ARFIP2_ENST00000423813.2_5'Flank|ARFIP2_ENST00000525235.1_5'Flank|ARFIP2_ENST00000445086.2_5'Flank|ARFIP2_ENST00000254584.2_5'Flank|TIMM10B_ENST00000530751.1_Missense_Mutation_p.E62K|ARFIP2_ENST00000396777.3_5'Flank	NM_012192.3	NP_036324.1	Q9Y5J6	T10B_HUMAN	translocase of inner mitochondrial membrane 10 homolog B (yeast)	94					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	metal ion binding (GO:0046872)										CGTTGCTGCTGAACAGCCTGG	0.637																																						ENST00000254616.6		NA																	0					NA						c.(280-282)Gaa>Aaa		translocase of inner mitochondrial membrane 10 homolog B (yeast)							35.0	33.0	34.0					11																	6503419		2201	4296	6497	SO:0001583	missense	26515							g.chr11:6503419G>A	AF150105	CCDS7766.1	11p15.4	2012-12-07	2012-12-07	2012-12-07	ENSG00000132286	ENSG00000132286			4022	protein-coding gene	gene with protein product		607388	"""fracture callus 1 (rat) homolog"", ""fracture callus 1 homolog (rat)"""	FXC1		10552927	Standard	NM_012192		Approved	Tim9b, TIM10B	uc001mdn.4	Q9Y5J6	OTTHUMG00000133400	ENST00000254616.6:c.280G>A	11.37:g.6503419G>A	ENSP00000254616:p.Glu94Lys	False	False		Somatic	0				TIMM10B_ENST00000530751.1_Missense_Mutation_p.E62K|TIMM10B_ENST00000472836.1_Missense_Mutation_p.E94K	p.E94K	NM_012192.3	NP_036324.1	WXS	Illumina HiSeq	Phase_I					3	350	+			NA					Q96FF3	Missense_Mutation	SNP	ENST00000254616.6	37	c.280G>A	CCDS7766.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014229	0.54468	.	.	ENSG00000132286	ENST00000254616;ENST00000530751;ENST00000531462;ENST00000533379	T;T;T;T	0.35973	1.44;1.28;1.28;1.44	5.76	2.72	0.32119	.	0.405610	0.28470	N	0.015234	T	0.23611	0.0571	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.12837	-1.0532	10	0.26408	T	0.33	-20.1978	13.9594	0.64170	0.0:0.4417:0.5583:0.0	.	94	Q9Y5J6	TIM9B_HUMAN	K	94;62;62;94	ENSP00000254616:E94K;ENSP00000436579:E62K;ENSP00000433087:E62K;ENSP00000436948:E94K	ENSP00000254616:E94K	E	+	1	0	FXC1	6459995	0.631000	0.27164	0.263000	0.24496	0.501000	0.33797	2.224000	0.42945	0.377000	0.24735	0.655000	0.94253	GAA		0.637	TIMM10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257257.2	0	NM_012192		11:6503419
EXOC3L1	283849	broad.mit.edu	37	16	67221162	67221162	+	Missense_Mutation	SNP	C	C	T	rs571286410		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:67221162C>T	ENST00000314586.6	-	5	1246	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	336	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)		p.A336T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGCAGCAAGGCGAAGGCATCC	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		20533	0.0		0.0	False		,,,				2504	0.001					ENST00000314586.6		NA																	2	Substitution - Missense(2)	p.A336T(2)	large_intestine(2)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1006-1008)Gcc>Acc		exocyst complex component 3-like 1							41.0	37.0	38.0					16																	67221162		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67221162C>T	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1006G>A	16.37:g.67221162C>T	ENSP00000325674:p.Ala336Thr	False	False		Somatic	0				EXOC3L1_ENST00000562887.1_Intron	p.A336T	NM_178516.3	NP_848611.2	WXS	Illumina HiSeq	Phase_I	Q86VI1	EX3L1_HUMAN			5	1246	-			336			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1006G>A	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	c	0.738	-0.777374	0.02929	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.18338	3.09;2.22	5.44	-0.326	0.12698	.	0.688796	0.14773	N	0.299287	T	0.04588	0.0125	N	0.02539	-0.55	0.25226	N	0.989867	B;B;B	0.16802	0.002;0.019;0.002	B;B;B	0.11329	0.001;0.006;0.002	T	0.37979	-0.9682	10	0.17369	T	0.5	-2.9961	2.2378	0.04012	0.1226:0.3296:0.1229:0.4249	.	275;275;336	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	T	336;275;280	ENSP00000325674:A336T;ENSP00000439910:A275T	ENSP00000325008:A280T	A	-	1	0	EXOC3L1	65778663	0.013000	0.17824	0.967000	0.41034	0.168000	0.22595	-0.502000	0.06390	-0.269000	0.09298	-1.467000	0.01014	GCC		0.632	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	0	NM_178516		16:67221162
F5	2153	broad.mit.edu	37	1	169510489	169510489	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510489A>G	ENST00000367797.3	-	13	4040	c.3839T>C	c.(3838-3840)cTc>cCc	p.L1280P	F5_ENST00000367796.3_Missense_Mutation_p.L1285P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1280	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTATGGCTGAGGTCTGGAGA	0.498																																						ENST00000367796.3		NA																	0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3853-3855)cTc>cCc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						212.0	227.0	222.0					1																	169510489		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510489A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3839T>C	1.37:g.169510489A>G	ENSP00000356771:p.Leu1280Pro	False	False		Somatic	0				F5_ENST00000367797.3_Missense_Mutation_p.L1280P	p.L1285P			WXS	Illumina HiSeq	Phase_I	P12259	FA5_HUMAN			13	4055	-	all_hematologic(923;0.208)		1280		L -> I (in dbSNP:rs1046712).	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3854T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306864	0.40795	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35048	1.33;1.33	4.14	4.14	0.48551	.	2.297870	0.01198	N	0.007505	T	0.14960	0.0361	L	0.43923	1.385	0.19945	N	0.999941	B	0.15719	0.014	B	0.15052	0.012	T	0.09640	-1.0665	9	0.27785	T	0.31	.	6.7085	0.23264	0.889:0.0:0.111:0.0	.	1280	P12259	FA5_HUMAN	P	1280;1285	ENSP00000356771:L1280P;ENSP00000356770:L1285P	ENSP00000356770:L1285P	L	-	2	0	F5	167777113	0.000000	0.05858	0.015000	0.15790	0.005000	0.04900	0.302000	0.19192	1.835000	0.53391	0.533000	0.62120	CTC		0.498	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	NM_000130		1:169510489
TNN	63923	broad.mit.edu	37	1	175086303	175086303	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:175086303C>A	ENST00000239462.4	+	10	2461	c.2348C>A	c.(2347-2349)gCc>gAc	p.A783D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	783	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAAGGGGGCCCAGGAGAGC	0.572																																						ENST00000239462.4		NA																	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2347-2349)gCc>gAc		tenascin N							84.0	84.0	84.0					1																	175086303		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086303C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2348C>A	1.37:g.175086303C>A	ENSP00000239462:p.Ala783Asp	True	False		Somatic	0					p.A783D	NM_022093.1	NP_071376.1	WXS	Illumina HiSeq	Phase_I	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2461	+		Breast(1374;0.000962)	783			Fibronectin type-III 6.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2348C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	c	5.911	0.352189	0.11182	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57907	0.37	5.37	-7.99	0.01131	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.976720	0.01961	N	0.043375	T	0.22437	0.0541	N	0.05012	-0.13	0.09310	N	1	B	0.06786	0.001	B	0.17979	0.02	T	0.30119	-0.9989	10	0.06236	T	0.91	.	4.7987	0.13284	0.1874:0.5444:0.1401:0.1281	.	783	Q9UQP3	TENN_HUMAN	D	783;606	ENSP00000239462:A783D	ENSP00000239462:A783D	A	+	2	0	TNN	173352926	0.000000	0.05858	0.000000	0.03702	0.769000	0.43574	-1.326000	0.02685	-1.295000	0.02357	-0.821000	0.03111	GCC		0.572	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	0	XM_040527		1:175086303
OXGR1	27199	broad.mit.edu	37	13	97639242	97639242	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:97639242G>T	ENST00000298440.1	-	4	1015	c.772C>A	c.(772-774)Cat>Aat	p.H258N	OXGR1_ENST00000543457.1_Missense_Mutation_p.H258N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	258					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CTCAAGATATGGAAGGGTAAA	0.438																																						ENST00000298440.1		NA																	0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(772-774)Cat>Aat		oxoglutarate (alpha-ketoglutarate) receptor 1							110.0	106.0	107.0					13																	97639242		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639242G>T	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.772C>A	13.37:g.97639242G>T	ENSP00000298440:p.His258Asn	False	False		Somatic	0				OXGR1_ENST00000543457.1_Missense_Mutation_p.H258N	p.H258N	NM_080818.3	NP_543008.3	WXS	Illumina HiSeq	Phase_I	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	1015	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		258					Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.772C>A	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617808	0.66787	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.38077	1.16;1.16	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.42581	1.335	0.39180	D	0.962769	D	0.89917	1.0	D	0.91635	0.999	T	0.22347	-1.0219	10	0.06757	T	0.87	.	15.3005	0.73945	0.0:0.0:0.8601:0.1399	.	258	Q96P68	OXGR1_HUMAN	N	258	ENSP00000298440:H258N;ENSP00000438800:H258N	ENSP00000298440:H258N	H	-	1	0	OXGR1	96437243	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.455000	0.73497	2.937000	0.99478	0.650000	0.86243	CAT		0.438	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	0	NM_080818		13:97639242
SGOL2	151246	broad.mit.edu	37	2	201436126	201436126	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:201436126G>A	ENST00000357799.4	+	7	1155	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	353					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GGATAATGATGACTTTCAATT	0.373																																						ENST00000357799.4		NA																	0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1057-1059)Gac>Aac		shugoshin-like 2 (S. pombe)							35.0	33.0	34.0					2																	201436126		1882	4108	5990	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436126G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1057G>A	2.37:g.201436126G>A	ENSP00000350447:p.Asp353Asn	False	False		Somatic	0					p.D353N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	WXS	Illumina HiSeq	Phase_I	Q562F6	SGOL2_HUMAN			7	1155	+			353					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1057G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057581	0.36277	.	.	ENSG00000163535	ENST00000357799	T	0.12984	2.63	5.45	3.63	0.41609	.	0.200831	0.35436	N	0.003203	T	0.11324	0.0276	L	0.46157	1.445	0.22457	N	0.999084	P;P;P	0.40332	0.713;0.713;0.713	B;B;B	0.36845	0.234;0.234;0.234	T	0.16247	-1.0409	10	0.25106	T	0.35	-3.3647	9.4882	0.38942	0.1632:0.0:0.8368:0.0	.	353;353;353	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	353	ENSP00000350447:D353N	ENSP00000350447:D353N	D	+	1	0	SGOL2	201144371	0.000000	0.05858	0.691000	0.30163	0.196000	0.23810	0.307000	0.19296	0.837000	0.34925	0.585000	0.79938	GAC		0.373	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	NM_152524		2:201436126
CCIN	881	broad.mit.edu	37	9	36170825	36170825	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36170825C>T	ENST00000335119.2	+	1	1437	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	442					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTCCCGGGTCGGGGTAGTGG	0.552																																						ENST00000335119.2		NA																	0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1324-1326)gtC>gtT		calicin							115.0	96.0	102.0					9																	36170825		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170825C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1326C>T	9.37:g.36170825C>T		True	False		Somatic	0					p.V442V	NM_005893.2	NP_005884.2	WXS	Illumina HiSeq	Phase_I	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1437	+			442					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1326C>T	CCDS6599.1																																																																																				0.552	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	0	NM_005893		9:36170825
OGG1	4968	broad.mit.edu	37	3	9798512	9798512	+	Intron	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:9798512T>A	ENST00000344629.7	+	6	1291				OGG1_ENST00000349503.5_Intron|OGG1_ENST00000339511.5_Silent_p.P320P|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302003.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase						acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TGAGTGTACCTAGGTGTCCTC	0.572								Base excision repair (BER), DNA glycosylases																														ENST00000339511.5		NA																	0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(958-960)ccT>ccA	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							88.0	92.0	91.0					3																	9798512		2203	4300	6503	SO:0001627	intron_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9798512T>A	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.948+12T>A	3.37:g.9798512T>A		False	False		Somatic	0				OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302003.7_Intron|OGG1_ENST00000344629.7_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron	p.P320P	NM_016819.3	NP_058212.1	WXS	Illumina HiSeq	Phase_I	O15527	OGG1_HUMAN			6	1266	+	Medulloblastoma(99;0.227)		0		S -> T (in dbSNP:rs1801128).			A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	c.960T>A	CCDS2581.1	.	.	.	.	.	.	.	.	.	.	T	2.225	-0.377530	0.05000	.	.	ENSG00000114026	ENST00000441094	.	.	.	4.49	-1.64	0.08318	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.30268	-0.9984	4	.	.	.	.	5.7992	0.18403	0.0:0.3968:0.1559:0.4473	.	.	.	.	Q	218	.	.	L	+	2	0	OGG1	9773512	0.000000	0.05858	0.002000	0.10522	0.416000	0.31233	-0.654000	0.05354	-0.285000	0.09089	0.533000	0.62120	CTA		0.572	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	0	NM_016821		3:9798512
ANKRD30BP3	338579	broad.mit.edu	37	10	45652269	45652269	+	RNA	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr10:45652269G>A	ENST00000427229.2	+	0	1783																											CACCCTTGGCGGAAAGAACAC	0.473																																						ENST00000427229.2		NA																	0					NA																																														0							g.chr10:45652269G>A																													10.37:g.45652269G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1783	+			NA						RNA	SNP	ENST00000427229.2	37																																																																																						0.473	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1	0			10:45652269
WIPI1	55062	broad.mit.edu	37	17	66430712	66430712	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430712C>A	ENST00000262139.5	-	7	676	c.677G>T	c.(676-678)cGg>cTg	p.R226L	WIPI1_ENST00000546360.1_Missense_Mutation_p.R144L|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	226					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CATCCCTCTCCGGAACTCATA	0.512																																						ENST00000262139.5		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(676-678)cGg>cTg		WD repeat domain, phosphoinositide interacting 1							95.0	92.0	93.0					17																	66430712		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66430712C>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.677G>T	17.37:g.66430712C>A	ENSP00000262139:p.Arg226Leu	False	False		Somatic	0				WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.R144L	p.R226L	NM_017983.5	NP_060453.3	WXS	Illumina HiSeq	Phase_I	Q5MNZ9	WIPI1_HUMAN			7	676	-			226					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.677G>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322237	0.81580	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.52057	0.68;2.32	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116368	0.56097	D	0.000025	T	0.65565	0.2703	H	0.95043	3.615	0.80722	D	1	P	0.35328	0.495	B	0.35931	0.214	T	0.75673	-0.3236	10	0.72032	D	0.01	-15.4145	19.0599	0.93085	0.0:1.0:0.0:0.0	.	226	Q5MNZ9	WIPI1_HUMAN	L	226;144	ENSP00000262139:R226L;ENSP00000437345:R144L	ENSP00000262139:R226L	R	-	2	0	WIPI1	63942307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.326000	0.79133	2.505000	0.84491	0.485000	0.47835	CGG		0.512	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	0	NM_017983		17:66430712
KLHL32	114792	broad.mit.edu	37	6	97423967	97423967	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:97423967A>G	ENST00000369261.4	+	3	481	c.118A>G	c.(118-120)Atc>Gtc	p.I40V	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Missense_Mutation_p.I40V|KLHL32_ENST00000536676.1_Missense_Mutation_p.I40V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	40										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GAGTGATGGCATCCTCTGCGA	0.507																																						ENST00000369261.4		NA																	0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(118-120)Atc>Gtc		kelch-like family member 32							99.0	77.0	85.0					6																	97423967		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97423967A>G	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.118A>G	6.37:g.97423967A>G	ENSP00000358265:p.Ile40Val	False	False		Somatic	0				KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.I40V|KLHL32_ENST00000539200.1_Missense_Mutation_p.I40V	p.I40V	NM_052904.3	NP_443136.2	WXS	Illumina HiSeq	Phase_I	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	3	481	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	40					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.118A>G	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.865093	0.32977	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.14	3.98	0.46160	BTB/POZ (1);BTB/POZ fold (2);	0.319047	0.33834	N	0.004507	T	0.35158	0.0922	N	0.25201	0.72	0.80722	D	1	B;B;B;B	0.15719	0.0;0.0;0.014;0.008	B;B;B;B	0.19666	0.0;0.0;0.015;0.026	T	0.26744	-1.0094	10	0.30854	T	0.27	.	11.1181	0.48273	0.917:0.0:0.083:0.0	.	40;40;40;40	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	V	40	ENSP00000358265:I40V;ENSP00000440382:I40V;ENSP00000441527:I40V;ENSP00000358258:I40V	ENSP00000358258:I40V	I	+	1	0	KLHL32	97530688	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	2.905000	0.48727	2.159000	0.67721	0.482000	0.46254	ATC		0.507	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	0	NM_052904		6:97423967
TRMT2A	27037	broad.mit.edu	37	22	20103778	20103778	+	Missense_Mutation	SNP	C	C	T	rs200653246		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:20103778C>T	ENST00000252136.7	-	2	770	c.382G>A	c.(382-384)Gtt>Att	p.V128I	RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V128I|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V128I|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000402752.1_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	128	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CCATGCAAAACGCGCAGGGCC	0.647																																						ENST00000252136.7		NA																	0				breast(2)|endometrium(2)|lung(5)	9						c.(382-384)Gtt>Att		tRNA methyltransferase 2 homolog A (S. cerevisiae)							47.0	48.0	47.0					22																	20103778		2203	4299	6502	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20103778C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.382G>A	22.37:g.20103778C>T	ENSP00000252136:p.Val128Ile	True	False		Somatic	0				RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V128I	p.V128I	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	WXS	Illumina HiSeq	Phase_I	Q8IZ69	TRM2A_HUMAN			2	770	-			128			RRM.		D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.382G>A	CCDS13774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.960083|2.960083	0.53400|0.53400	.|.	.|.	ENSG00000099901|ENSG00000099899	ENST00000432879|ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	.|T;T;T;T;T	.|0.41758	.|3.17;3.17;3.17;3.17;0.99	5.68|5.68	4.67|4.67	0.58626|0.58626	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.189905	.|0.47093	.|D	.|0.000254	T|T	0.33962|0.33962	0.0881|0.0881	L|L	0.31065|0.31065	0.9|0.9	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.50369	.|0.934;0.003;0.0	.|B;B;B	.|0.43478	.|0.421;0.005;0.003	T|T	0.05402|0.05402	-1.0887|-1.0887	6|10	0.54805|0.27785	T|T	0.06|0.31	-28.7311|-28.7311	14.5387|14.5387	0.67979|0.67979	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	.|128;128;128	.|B4E213;F2Z2W7;Q8IZ69	.|.;.;TRM2A_HUMAN	M|I	24|128;128;128;128;116	.|ENSP00000252136:V128I;ENSP00000385807:V128I;ENSP00000384968:V128I;ENSP00000395738:V128I;ENSP00000393911:V116I	ENSP00000404724:T24M|ENSP00000252136:V128I	T|V	+|-	2|1	0|0	RANBP1|TRMT2A	18483778|18483778	0.851000|0.851000	0.29673|0.29673	0.928000|0.928000	0.36995|0.36995	0.657000|0.657000	0.38888|0.38888	2.040000|2.040000	0.41203|0.41203	1.422000|1.422000	0.47177|0.47177	-0.424000|-0.424000	0.05967|0.05967	ACG|GTT		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	0	NM_022727		22:20103778
HELZ	9931	broad.mit.edu	37	17	65163782	65163782	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:65163782T>A	ENST00000358691.5	-	14	1727	c.1561A>T	c.(1561-1563)Act>Tct	p.T521S	HELZ_ENST00000580168.1_Missense_Mutation_p.T521S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	521						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCAGCCAAAGTATCTTCAGAA	0.433																																						ENST00000358691.5		NA																	0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1561-1563)Act>Tct		helicase with zinc finger							115.0	102.0	106.0					17																	65163782		1866	4114	5980	SO:0001583	missense	9931							g.chr17:65163782T>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1561A>T	17.37:g.65163782T>A	ENSP00000351524:p.Thr521Ser	False	False		Somatic	0				HELZ_ENST00000580168.1_Missense_Mutation_p.T521S	p.T521S	NM_014877.3	NP_055692	WXS	Illumina HiSeq	Phase_I					14	1727	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		NA					I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1561A>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885504	0.51908	.	.	ENSG00000198265	ENST00000358691	D	0.85484	-1.99	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	L	0.56280	1.765	0.80722	D	1	D;P	0.76494	0.999;0.922	D;P	0.68192	0.956;0.655	D	0.90316	0.4341	10	0.52906	T	0.07	-16.6549	15.4547	0.75302	0.0:0.0:0.0:1.0	.	521;521	B7ZLW2;P42694	.;HELZ_HUMAN	S	521	ENSP00000351524:T521S	ENSP00000351524:T521S	T	-	1	0	HELZ	62594244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.662000	0.68032	2.045000	0.60652	0.460000	0.39030	ACT		0.433	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	0	NM_014877		17:65163782
PCSK5	5125	broad.mit.edu	37	9	78686787	78686787	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:78686787G>A	ENST00000545128.1	+	7	1405	c.867G>A	c.(865-867)cgG>cgA	p.R289R	PCSK5_ENST00000376752.4_Silent_p.R289R|PCSK5_ENST00000376767.3_Silent_p.R289R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	289	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCTCACCCGGCAAGCCTTTG	0.507																																						ENST00000545128.1		NA																	0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(865-867)cgG>cgA		proprotein convertase subtilisin/kexin type 5							112.0	117.0	115.0					9																	78686787		2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686787G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.867G>A	9.37:g.78686787G>A		False	False		Somatic	0				PCSK5_ENST00000376752.4_Silent_p.R289R|PCSK5_ENST00000376767.3_Silent_p.R289R	p.R289R	NM_001190482.1	NP_001177411.1	WXS	Illumina HiSeq	Phase_I	Q92824	PCSK5_HUMAN			7	1405	+			289			Catalytic.		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.867G>A	CCDS55320.1																																																																																				0.507	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:78686787
ADRB2	154	broad.mit.edu	37	5	148206693	148206693	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:148206693C>G	ENST00000305988.4	+	1	538	c.299C>G	c.(298-300)aCt>aGt	p.T100S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	100					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	AAAATGTGGACTTTTGGCAAC	0.527																																						ENST00000305988.4		NA																	0				endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(298-300)aCt>aGt		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						111.0	103.0	106.0					5																	148206693		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206693C>G	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.299C>G	5.37:g.148206693C>G	ENSP00000305372:p.Thr100Ser	True	False		Somatic	0					p.T100S	NM_000024.5	NP_000015	WXS	Illumina HiSeq	Phase_I	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	538	+			100					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.299C>G	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	0.963	-0.702511	0.03255	.	.	ENSG00000169252	ENST00000305988	T	0.19105	2.17	5.4	0.158	0.14942	GPCR, rhodopsin-like superfamily (1);	0.415884	0.28459	N	0.015270	T	0.06508	0.0167	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37549	-0.9701	10	0.09590	T	0.72	.	4.9026	0.13782	0.5116:0.2522:0.1675:0.0686	.	100	P07550	ADRB2_HUMAN	S	100	ENSP00000305372:T100S	ENSP00000305372:T100S	T	+	2	0	ADRB2	148186886	0.024000	0.19004	0.917000	0.36280	0.995000	0.86356	0.638000	0.24674	-0.152000	0.11156	0.655000	0.94253	ACT		0.527	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	0	NM_000024		5:148206693
MEOX1	4222	broad.mit.edu	37	17	41738449	41738449	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:41738449T>C	ENST00000318579.4	-	1	873	c.454A>G	c.(454-456)Aga>Gga	p.R152G	MEOX1_ENST00000549132.1_Silent_p.G122G|MEOX1_ENST00000329168.3_Missense_Mutation_p.R152G|MEOX1_ENST00000393661.2_Missense_Mutation_p.R37G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	152					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CTCTCCTTTCTCCGCCTGGAT	0.572																																						ENST00000318579.4		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(454-456)Aga>Gga		mesenchyme homeobox 1							197.0	196.0	196.0					17																	41738449		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41738449T>C		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.454A>G	17.37:g.41738449T>C	ENSP00000321684:p.Arg152Gly	False	False		Somatic	0				MEOX1_ENST00000549132.1_Silent_p.G122G|MEOX1_ENST00000393661.2_Missense_Mutation_p.R37G|MEOX1_ENST00000329168.3_Missense_Mutation_p.R152G	p.R152G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	WXS	Illumina HiSeq	Phase_I	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	1	873	-		Breast(137;0.00908)	152					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.454A>G	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857712	0.51376	.	.	ENSG00000005102	ENST00000318579;ENST00000329168;ENST00000393661	D;T;D	0.91180	-2.8;0.64;-2.78	4.99	4.99	0.66335	.	0.048523	0.85682	D	0.000000	T	0.82135	0.4971	N	0.14661	0.345	0.37695	D	0.923982	B;B	0.29835	0.152;0.258	B;B	0.26969	0.023;0.075	T	0.83253	-0.0052	10	0.48119	T	0.1	-25.6858	13.4121	0.60948	0.0:0.0:0.0:1.0	.	152;152	Q15069;P50221	.;MEOX1_HUMAN	G	152;152;37	ENSP00000321684:R152G;ENSP00000328678:R152G;ENSP00000377271:R37G	ENSP00000321684:R152G	R	-	1	2	MEOX1	39093975	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.734000	0.74801	2.092000	0.63282	0.533000	0.62120	AGA		0.572	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1	0			17:41738449
ACSL4	2182	broad.mit.edu	37	X	108921610	108921610	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:108921610G>T	ENST00000469796.2	-	7	1209	c.813C>A	c.(811-813)gaC>gaA	p.D271E	ACSL4_ENST00000348502.6_Missense_Mutation_p.D230E|ACSL4_ENST00000340800.2_Missense_Mutation_p.D271E			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	271					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CAATGGCCATGTCTGAAGGCG	0.378																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(811-813)gaC>gaA		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						131.0	111.0	118.0					X																	108921610		2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108921610G>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.813C>A	X.37:g.108921610G>T	ENSP00000419171:p.Asp271Glu	False	False		Somatic	0				ACSL4_ENST00000469796.2_Missense_Mutation_p.D271E|ACSL4_ENST00000348502.6_Missense_Mutation_p.D230E	p.D271E	NM_022977.2	NP_075266.1	WXS	Illumina HiSeq	Phase_I	O60488	ACSL4_HUMAN			8	1317	-			271					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.813C>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875527	0.72180	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.14893	2.47;2.47;2.47	5.57	3.8	0.43715	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.92412	3.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.50734	-0.8793	10	0.87932	D	0	-16.4258	8.8404	0.35137	0.2351:0.0:0.7649:0.0	.	271	O60488	ACSL4_HUMAN	E	230;271;271	ENSP00000262835:D230E;ENSP00000419171:D271E;ENSP00000339787:D271E	ENSP00000339787:D271E	D	-	3	2	ACSL4	108808266	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.011000	0.40922	0.533000	0.28675	0.600000	0.82982	GAC		0.378	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	0	NM_004458		X:108921610
CFAP45	25790	broad.mit.edu	37	1	159850480	159850480	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:159850480C>T	ENST00000368099.4	-	8	972	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Missense_Mutation_p.R218Q	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGCTGCCTTCGTTCCATGTC	0.478																																						ENST00000426543.2		NA																	0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(652-654)cGa>cAa		coiled-coil domain containing 19							103.0	88.0	93.0					1																	159850480		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159850480C>T																												ENST00000368099.4:c.908G>A	1.37:g.159850480C>T	ENSP00000357079:p.Arg303Gln	False	False		Somatic	0				CCDC19_ENST00000368099.4_Missense_Mutation_p.R303Q|CCDC19_ENST00000476696.1_5'UTR	p.R218Q			WXS	Illumina HiSeq	Phase_I	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		8	1108	-	all_hematologic(112;0.0597)		303						Missense_Mutation	SNP	ENST00000368099.4	37	c.653G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	1.086	-0.665561	0.03428	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10099	2.91;2.91	4.94	-0.338	0.12651	.	0.596147	0.17329	N	0.178193	T	0.01730	0.0055	N	0.16567	0.415	0.21915	N	0.999471	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.45629	-0.9248	9	.	.	.	-0.0898	11.3354	0.49500	0.0:0.6301:0.0:0.3699	.	303;303	A8K884;Q9UL16	.;CCD19_HUMAN	Q	303;218	ENSP00000357079:R303Q;ENSP00000403044:R218Q	.	R	-	2	0	CCDC19	158117104	0.000000	0.05858	0.194000	0.23346	0.168000	0.22595	-0.761000	0.04751	-0.337000	0.08426	-1.786000	0.00637	CGA		0.478	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1	0			1:159850480
OR56A3	390083	broad.mit.edu	37	11	5969013	5969013	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:5969013T>A	ENST00000329564.6	+	1	444	c.437T>A	c.(436-438)gTc>gAc	p.V146D	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTTTGTAGTCAAGGCTGCC	0.448																																						ENST00000329564.6		NA																	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(436-438)gTc>gAc		olfactory receptor, family 56, subfamily A, member 3							150.0	148.0	149.0					11																	5969013		2200	4296	6496	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969013T>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.437T>A	11.37:g.5969013T>A	ENSP00000331572:p.Val146Asp	False	False		Somatic	0					p.V146D	NM_001003443.2	NP_001003443.2	WXS	Illumina HiSeq	Phase_I	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	444	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	146					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.437T>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	T	4.194	0.034682	0.08101	.	.	ENSG00000184478	ENST00000329564	T	0.39406	1.08	5.13	-0.302	0.12796	GPCR, rhodopsin-like superfamily (1);	0.277746	0.18223	U	0.147820	T	0.43809	0.1264	M	0.82056	2.57	0.18873	N	0.999989	B	0.26041	0.14	B	0.34779	0.189	T	0.48927	-0.8991	10	0.72032	D	0.01	-6.0991	5.5314	0.16987	0.1326:0.4555:0.0:0.4119	.	146	Q8NH54	O56A3_HUMAN	D	146	ENSP00000331572:V146D	ENSP00000331572:V146D	V	+	2	0	OR56A3	5925589	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.036000	0.00308	-0.225000	0.09913	-1.200000	0.01667	GTC		0.448	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	0	NM_001003443		11:5969013
KCNC1	3746	broad.mit.edu	37	11	17794037	17794037	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:17794037C>A	ENST00000379472.3	+	2	1426	c.1396C>A	c.(1396-1398)Ctg>Atg	p.L466M	KCNC1_ENST00000265969.6_Missense_Mutation_p.L466M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	466					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCCACCGCAGCTGGGATCTCC	0.448																																						ENST00000379472.3		NA																	0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1396-1398)Ctg>Atg		potassium voltage-gated channel, Shaw-related subfamily, member 1							51.0	59.0	56.0					11																	17794037		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17794037C>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1396C>A	11.37:g.17794037C>A	ENSP00000368785:p.Leu466Met	False	False		Somatic	0				KCNC1_ENST00000265969.6_Missense_Mutation_p.L466M	p.L466M	NM_004976.4	NP_004967.1	WXS	Illumina HiSeq	Phase_I	P48547	KCNC1_HUMAN			2	1426	+			466					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1396C>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639495	0.29157	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97279	-4.32;-4.3	5.24	5.24	0.73138	.	0.155348	0.45606	D	0.000355	D	0.96978	0.9013	L	0.39020	1.185	0.49915	D	0.999838	B;D	0.60160	0.116;0.987	B;P	0.61070	0.062;0.883	D	0.96559	0.9414	10	0.35671	T	0.21	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	466;466	Q3KNS8;P48547	.;KCNC1_HUMAN	M	466	ENSP00000265969:L466M;ENSP00000368785:L466M	ENSP00000265969:L466M	L	+	1	2	KCNC1	17750613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.445000	0.82738	0.561000	0.74099	CTG		0.448	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	0	NM_004976		11:17794037
JAKMIP2	9832	broad.mit.edu	37	5	147040819	147040819	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:147040819G>C	ENST00000265272.5	-	3	786	c.319C>G	c.(319-321)Cgt>Ggt	p.R107G	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	107						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCATCACGTACCTTCACC	0.557																																						ENST00000265272.5		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(319-321)Cgt>Ggt		janus kinase and microtubule interacting protein 2							187.0	176.0	180.0					5																	147040819		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147040819G>C	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.319C>G	5.37:g.147040819G>C	ENSP00000265272:p.Arg107Gly	False	False		Somatic	0				JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107G|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65G	p.R107G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	WXS	Illumina HiSeq	Phase_I	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	786	-			107					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.319C>G	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126056	0.20959	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.35421	1.31;1.31;1.31	4.67	3.71	0.42584	.	0.059973	0.64402	D	0.000003	T	0.24160	0.0585	N	0.24115	0.695	0.38983	D	0.95898	B;B;B;B	0.32396	0.15;0.369;0.369;0.239	B;B;B;B	0.29176	0.045;0.099;0.099;0.099	T	0.23013	-1.0200	10	0.66056	D	0.02	.	12.4034	0.55426	0.0:0.0:0.6863:0.3137	.	65;107;107;107	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	G	107;107;65;107	ENSP00000421398:R107G;ENSP00000265272:R107G;ENSP00000328989:R65G	ENSP00000265272:R107G	R	-	1	0	JAKMIP2	147021012	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	4.826000	0.62715	2.529000	0.85273	0.563000	0.77884	CGT		0.557	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	0	NM_014790		5:147040819
RAD52	5893	broad.mit.edu	37	12	1023204	1023204	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:1023204G>C	ENST00000358495.3	-	11	1189	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	RAD52_ENST00000430095.2_Missense_Mutation_p.P351A|RAD52_ENST00000539046.1_Missense_Mutation_p.P274A|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	351					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTCTGGGCTGGGTCTGCTCTA	0.527								Homologous recombination																														ENST00000358495.3		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1051-1053)Cca>Gca	Homologous recombination	RAD52 homolog (S. cerevisiae)							142.0	132.0	135.0					12																	1023204		1987	4151	6138	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1023204G>C		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1051C>G	12.37:g.1023204G>C	ENSP00000351284:p.Pro351Ala	True	False		Somatic	0				RAD52_ENST00000430095.2_Missense_Mutation_p.P351A|RAD52_ENST00000539046.1_Missense_Mutation_p.P274A|RAD52_ENST00000535376.1_5'UTR	p.P351A	NM_134424.2	NP_602296.2	WXS	Illumina HiSeq	Phase_I	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		11	1189	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		351					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.1051C>G	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438716	0.25900	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.36878	1.65;1.65;1.23	5.11	1.13	0.20643	.	0.341611	0.34245	N	0.004125	T	0.28001	0.0690	L	0.52364	1.645	0.19300	N	0.999976	B	0.09022	0.002	B	0.08055	0.003	T	0.23332	-1.0191	10	0.59425	D	0.04	-14.8336	6.5135	0.22234	0.163:0.2837:0.5532:0.0	.	351	P43351	RAD52_HUMAN	A	351;351;274	ENSP00000351284:P351A;ENSP00000387901:P351A;ENSP00000445245:P274A	ENSP00000351284:P351A	P	-	1	0	RAD52	893465	0.000000	0.05858	0.014000	0.15608	0.007000	0.05969	-0.129000	0.10515	0.378000	0.24764	0.561000	0.74099	CCA		0.527	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	0	NM_134424		12:1023204
DRC1	92749	broad.mit.edu	37	2	26677522	26677522	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:26677522C>T	ENST00000288710.2	+	15	2001	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	643					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CAGGGACTCGCGGGCCCCGCT	0.592																																						ENST00000288710.2		NA																	0					NA						c.(1927-1929)Cgg>Tgg		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							82.0	77.0	79.0					2																	26677522		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26677522C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1927C>T	2.37:g.26677522C>T	ENSP00000288710:p.Arg643Trp	True	False		Somatic	0					p.R643W	NM_145038.2	NP_659475.2	WXS	Illumina HiSeq	Phase_I					15	2001	+			NA					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1927C>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	c	9.094	1.002383	0.19121	.	.	ENSG00000157856	ENST00000288710	T	0.15487	2.42	4.72	-1.33	0.09172	.	1.880020	0.02011	N	0.046989	T	0.10895	0.0266	N	0.16307	0.4	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30297	-0.9983	10	0.51188	T	0.08	-2.2731	4.0988	0.10004	0.2492:0.3741:0.0:0.3767	.	643	Q96MC2	CC164_HUMAN	W	643	ENSP00000288710:R643W	ENSP00000288710:R643W	R	+	1	2	CCDC164	26531026	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.398000	0.02509	-0.168000	0.10853	-1.788000	0.00630	CGG		0.592	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	0	NM_145038		2:26677522
CARM1	10498	broad.mit.edu	37	19	11022882	11022882	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:11022882G>A	ENST00000327064.4	+	5	771	c.581G>A	c.(580-582)gGc>gAc	p.G194D	CARM1_ENST00000344150.4_Missense_Mutation_p.G194D	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	194	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTTGGCTGTGGCTCTGGGATC	0.592																																						ENST00000327064.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(580-582)gGc>gAc		coactivator-associated arginine methyltransferase 1							351.0	279.0	303.0					19																	11022882		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022882G>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.581G>A	19.37:g.11022882G>A	ENSP00000325690:p.Gly194Asp	False	False		Somatic	0				CARM1_ENST00000344150.4_Missense_Mutation_p.G194D	p.G194D	NM_199141.1	NP_954592.1	WXS	Illumina HiSeq	Phase_I	Q86X55	CARM1_HUMAN			5	771	+			194					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.581G>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987583	0.93106	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.77620	-1.11;-1.11	5.67	4.64	0.57946	.	0.058076	0.64402	N	0.000002	D	0.93354	0.7881	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95477	0.8557	10	0.87932	D	0	-4.2354	13.3148	0.60401	0.077:0.0:0.923:0.0	.	194	Q86X55	CARM1_HUMAN	D	194	ENSP00000325690:G194D;ENSP00000340934:G194D	ENSP00000325690:G194D	G	+	2	0	CARM1	10883882	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.233000	0.95337	1.403000	0.46800	0.655000	0.94253	GGC		0.592	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	0	XM_032719		19:11022882
UCP3	7352	broad.mit.edu	37	11	73718034	73718034	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:73718034C>T	ENST00000314032.4	-	2	606	c.54G>A	c.(52-54)ctG>ctA	p.L18L	UCP3_ENST00000348534.4_Silent_p.L18L|UCP3_ENST00000426995.2_Silent_p.L18L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	18					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGCCTGCCCCCAGGAACTTCA	0.597																																						ENST00000314032.4		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(52-54)ctG>ctA		uncoupling protein 3 (mitochondrial, proton carrier)							100.0	76.0	84.0					11																	73718034		2200	4293	6493	SO:0001819	synonymous_variant	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73718034C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.54G>A	11.37:g.73718034C>T		True	False		Somatic	0				UCP3_ENST00000426995.2_Silent_p.L18L|UCP3_ENST00000348534.4_Silent_p.L18L	p.L18L	NM_003356.3	NP_003347.1	WXS	Illumina HiSeq	Phase_I	P55916	UCP3_HUMAN			2	606	-	Breast(11;2.08e-05)		18					O60475|Q96HL3	Silent	SNP	ENST00000314032.4	37	c.54G>A	CCDS8229.1																																																																																				0.597	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	0	NM_003356		11:73718034
RND3	390	broad.mit.edu	37	2	151326505	151326505	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:151326505A>G	ENST00000375734.2	-	5	980	c.731T>C	c.(730-732)aTg>aCg	p.M244T	RND3_ENST00000409557.1_Missense_Mutation_p.M115T|RND3_ENST00000263895.4_Missense_Mutation_p.M244T|RND3_ENST00000472416.1_5'Flank	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	244					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		AAAGATTCACATCACAGTGCA	0.423																																						ENST00000375734.2		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13						c.(730-732)aTg>aCg		Rho family GTPase 3							98.0	91.0	93.0					2																	151326505		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151326505A>G		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.731T>C	2.37:g.151326505A>G	ENSP00000364886:p.Met244Thr	True	False		Somatic	0				RND3_ENST00000263895.4_Missense_Mutation_p.M244T|RND3_ENST00000409557.1_Missense_Mutation_p.M115T	p.M244T	NM_001254738.1	NP_001241667.1	WXS	Illumina HiSeq	Phase_I	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	5	980	-			244					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.731T>C	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498553	0.64298	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.68624	-0.34;-0.34;2.26	5.81	5.81	0.92471	.	0.033764	0.85682	D	0.000000	T	0.75517	0.3860	M	0.64404	1.975	0.80722	D	1	P;D;D	0.55800	0.597;0.973;0.973	P;P;P	0.55345	0.774;0.663;0.663	T	0.78560	-0.2157	10	0.87932	D	0	-26.2874	15.3525	0.74399	1.0:0.0:0.0:0.0	.	107;243;244	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	244;244;115	ENSP00000364886:M244T;ENSP00000263895:M244T;ENSP00000386576:M115T	ENSP00000263895:M244T	M	-	2	0	RND3	151034751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.335000	0.96500	2.221000	0.72209	0.528000	0.53228	ATG		0.423	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	0	NM_005168		2:151326505
ABCA4	24	broad.mit.edu	37	1	94578575	94578575	+	Silent	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:94578575G>C	ENST00000370225.3	-	2	200	c.114C>G	c.(112-114)gtC>gtG	p.V38V	ABCA4_ENST00000535735.1_Silent_p.V38V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	38					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCAGATCAAGACCAGAAATA	0.443																																						ENST00000370225.3		NA																	0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(112-114)gtC>gtG		ATP-binding cassette, sub-family A (ABC1), member 4							118.0	109.0	112.0					1																	94578575		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94578575G>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.114C>G	1.37:g.94578575G>C		False	False		Somatic	0				ABCA4_ENST00000535735.1_Silent_p.V38V	p.V38V	NM_000350.2	NP_000341.2	WXS	Illumina HiSeq	Phase_I	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	2	200	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	38					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.114C>G	CCDS747.1																																																																																				0.443	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	0	NM_000350		1:94578575
DAAM2	23500	broad.mit.edu	37	6	39866704	39866704	+	Silent	SNP	G	G	A	rs370996980	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:39866704G>A	ENST00000398904.2	+	22	2852	c.2670G>A	c.(2668-2670)gcG>gcA	p.A890A	DAAM2_ENST00000538976.1_Silent_p.A890A|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Silent_p.A890A|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	890	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCTGAGAGCGGTGGAGGTGG	0.577													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		20722	0.0		0.0	False		,,,				2504	0.001					ENST00000538976.1		NA																	0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2668-2670)gcG>gcA		dishevelled associated activator of morphogenesis 2		G	,	1,4139		0,1,2069	87.0	104.0	98.0		2670,2670	-10.7	0.3	6		98	0,8426		0,0,4213	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	0,1,6282	AA,AG,GG		0.0,0.0242,0.0080	,	890/1069,890/1068	39866704	1,12565	2070	4213	6283	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39866704G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2670G>A	6.37:g.39866704G>A		False	False		Somatic	0				DAAM2_ENST00000274867.4_Silent_p.A890A|DAAM2_ENST00000398904.2_Silent_p.A890A|RP11-61I13.3_ENST00000437947.1_RNA	p.A890A	NM_015345.3	NP_056160.2	WXS	Illumina HiSeq	Phase_I	Q86T65	DAAM2_HUMAN			22	2852	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		890			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.2670G>A	CCDS56426.1																																																																																				0.577	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	0			6:39866704
KCNQ5	56479	broad.mit.edu	37	6	73834247	73834247	+	Intron	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:73834247C>A	ENST00000370398.1	+	9	1356				KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S420Y|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000414165.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5						protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTGTGATTTCTCTCTTGCTA	0.358																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370392.1		NA																	0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1258-1260)tCt>tAt		potassium voltage-gated channel, KQT-like subfamily, member 5							186.0	172.0	177.0					6																	73834247		2203	4300	6503	SO:0001627	intron_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73834247C>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1247+12C>A	6.37:g.73834247C>A		True	False		Somatic	0				KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000370398.1_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000414165.2_Intron	p.S420Y			WXS	Illumina HiSeq	Phase_I	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	9	1343	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	0					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1259C>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495565	0.44352	.	.	ENSG00000185760	ENST00000370392	D	0.99167	-5.51	5.37	4.44	0.53790	.	.	.	.	.	D	0.95185	0.8439	.	.	.	0.80722	D	1	B	0.28605	0.217	B	0.31946	0.138	D	0.92822	0.6273	7	.	.	.	.	8.6158	0.33831	0.1695:0.6666:0.1639:0.0	.	420	Q9NR82-4	.	Y	420	ENSP00000359419:S420Y	.	S	+	2	0	KCNQ5	73890968	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	1.948000	0.40303	2.648000	0.89879	0.655000	0.94253	TCT		0.358	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	0	NM_019842		6:73834247
CCDC58	131076	broad.mit.edu	37	3	122081856	122081856	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:122081856C>T	ENST00000291458.5	-	4	349	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	CCDC58_ENST00000497726.1_Missense_Mutation_p.E24K|CCDC58_ENST00000466854.1_5'UTR|CCDC58_ENST00000479899.1_Missense_Mutation_p.E101K	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	115						mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		ACATTCAGTTCTGACTGCATC	0.313																																						ENST00000291458.5		NA																	0				large_intestine(1)|lung(1)	2						c.(343-345)Gaa>Aaa		coiled-coil domain containing 58							88.0	84.0	85.0					3																	122081856		2202	4300	6502	SO:0001583	missense	131076							g.chr3:122081856C>T	AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.343G>A	3.37:g.122081856C>T	ENSP00000291458:p.Glu115Lys	False	False		Somatic	0				CCDC58_ENST00000466854.1_5'UTR|CCDC58_ENST00000479899.1_Missense_Mutation_p.E101K|CCDC58_ENST00000497726.1_Missense_Mutation_p.E24K	p.E115K	NM_001017928.2	NP_001017928.1	WXS	Illumina HiSeq	Phase_I	Q4VC31	CCD58_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	4	349	-			115					Q32LY6	Missense_Mutation	SNP	ENST00000291458.5	37	c.343G>A	CCDS33838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.821041|4.821041	0.90873|0.90873	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000291458;ENST00000497726;ENST00000479899|ENST00000479414	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83008|0.83008	0.5161|0.5161	M|M	0.89287|0.89287	3.02|3.02	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.85748|0.85748	0.1341|0.1341	9|5	0.87932|.	D|.	0|.	.|.	15.8232|15.8232	0.78676|0.78676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	115|.	Q4VC31|.	CCD58_HUMAN|.	K|K	115;24;101|111	.|.	ENSP00000291458:E115K|.	E|R	-|-	1|2	0|0	CCDC58|CCDC58	123564546|123564546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.444000|6.444000	0.73452|0.73452	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.313	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	0	NM_001017928		3:122081856
AMBP	259	broad.mit.edu	37	9	116837247	116837247	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:116837247G>C	ENST00000265132.3	-	3	592	c.330C>G	c.(328-330)caC>caG	p.H110Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	110					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TACTGGATTTGTGATAGAGAA	0.438																																						ENST00000265132.3		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(328-330)caC>caG		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						177.0	151.0	160.0					9																	116837247		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116837247G>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.330C>G	9.37:g.116837247G>C	ENSP00000265132:p.His110Gln	True	False		Somatic	0					p.H110Q	NM_001633.3	NP_001624.1	WXS	Illumina HiSeq	Phase_I	P02760	AMBP_HUMAN			3	592	-			110					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.330C>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195027	0.58017	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.07444	3.19	5.43	2.45	0.29901	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.579014	0.19553	N	0.111528	T	0.19406	0.0466	M	0.83953	2.67	0.37815	D	0.928163	D;D	0.60575	0.988;0.966	P;P	0.56343	0.796;0.617	T	0.05084	-1.0907	10	0.38643	T	0.18	.	4.7856	0.13223	0.1675:0.0:0.6611:0.1713	.	51;110	B7Z8R6;P02760	.;AMBP_HUMAN	Q	110;51	ENSP00000265132:H110Q	ENSP00000265132:H110Q	H	-	3	2	AMBP	115877068	0.031000	0.19500	0.934000	0.37439	0.845000	0.48019	0.132000	0.15891	0.686000	0.31488	0.561000	0.74099	CAC		0.438	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	0	NM_001633		9:116837247
PAPPA2	60676	broad.mit.edu	37	1	176564265	176564265	+	Silent	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176564265T>C	ENST00000367662.3	+	3	2689	c.1525T>C	c.(1525-1527)Ttg>Ctg	p.L509L	PAPPA2_ENST00000367661.3_Silent_p.L509L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	509	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAATGTGGAATTGATCTCCCA	0.537																																						ENST00000367662.3		NA																	0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1525-1527)Ttg>Ctg		pappalysin 2							56.0	57.0	56.0					1																	176564265		1976	4162	6138	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564265T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1525T>C	1.37:g.176564265T>C		False	False		Somatic	0				PAPPA2_ENST00000367661.3_Silent_p.L509L	p.L509L	NM_020318.2	NP_064714.2	WXS	Illumina HiSeq	Phase_I	Q9BXP8	PAPP2_HUMAN			3	2689	+			509			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.1525T>C	CCDS41438.1																																																																																				0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	0			1:176564265
ZNF600	162966	broad.mit.edu	37	19	53270312	53270312	+	Missense_Mutation	SNP	G	G	T	rs566513144		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:53270312G>T	ENST00000338230.3	-	3	964	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGGCATGTAAGGGATGATACC	0.408																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3		NA																	0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(697-699)Ctt>Att		zinc finger protein 600																																				SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270312G>T	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.697C>A	19.37:g.53270312G>T	ENSP00000344791:p.Leu233Ile	True	False		Somatic	0					p.L233I	NM_198457.2	NP_940859	WXS	Illumina HiSeq	Phase_I	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	964	-			233					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.697C>A	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	16.90	3.250086	0.59212	.	.	ENSG00000189190	ENST00000338230	T	0.10860	2.83	1.62	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37019	0.0988	M	0.89715	3.055	0.09310	N	1	D	0.69078	0.997	D	0.85130	0.997	T	0.08066	-1.0740	9	0.87932	D	0	.	10.1661	0.42882	0.0:0.0:1.0:0.0	.	233	Q6ZNG1	ZN600_HUMAN	I	233	ENSP00000344791:L233I	ENSP00000344791:L233I	L	-	1	0	ZNF600	57962124	0.152000	0.22762	0.093000	0.20910	0.519000	0.34347	2.239000	0.43079	0.888000	0.36160	0.313000	0.20887	CTT		0.408	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	0	NM_198457		19:53270312
NOS3	4846	broad.mit.edu	37	7	150699033	150699033	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150699033C>T	ENST00000484524.1	+	12	1627	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	NOS3_ENST00000467517.1_Missense_Mutation_p.R543W|NOS3_ENST00000461406.1_Missense_Mutation_p.R337W|NOS3_ENST00000297494.3_Missense_Mutation_p.R543W	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACTCTTCCGGAAGGCTTT	0.632																																						ENST00000297494.3		NA																	0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1627-1629)Cgg>Tgg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						35.0	39.0	38.0					7																	150699033		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699033C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1627C>T	7.37:g.150699033C>T	ENSP00000420215:p.Arg543Trp	False	False		Somatic	0				NOS3_ENST00000467517.1_Missense_Mutation_p.R543W|NOS3_ENST00000461406.1_Missense_Mutation_p.R337W|NOS3_ENST00000484524.1_Missense_Mutation_p.R543W	p.R543W	NM_000603.4	NP_000594.2	WXS	Illumina HiSeq	Phase_I	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1984	+	all_neural(206;0.219)		543			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1627C>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660722	0.67700	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	4.8	3.9	0.45041	Flavodoxin/nitric oxide synthase (2);	0.118708	0.35772	N	0.002998	D	0.86230	0.5883	M	0.88377	2.95	0.33655	D	0.609001	D;D;D;D;D	0.76494	0.999;0.999;0.988;0.997;0.997	D;D;D;D;P	0.70716	0.917;0.97;0.97;0.948;0.892	D	0.90621	0.4559	10	0.72032	D	0.01	-20.3273	10.4856	0.44719	0.3522:0.6478:0.0:0.0	.	543;543;543;337;543	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	W	543;337;543;543	ENSP00000297494:R543W;ENSP00000417143:R337W;ENSP00000420215:R543W;ENSP00000420551:R543W	ENSP00000297494:R543W	R	+	1	2	NOS3	150329966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.991000	0.29654	1.123000	0.41961	0.655000	0.94253	CGG		0.632	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	0	NM_000603		7:150699033
EXTL3	2137	broad.mit.edu	37	8	28575489	28575489	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28575489C>A	ENST00000220562.4	+	3	2815	c.1913C>A	c.(1912-1914)cCt>cAt	p.P638H	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P254H	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	638					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGCTTTCGGCCTATTGGTGGT	0.557																																						ENST00000220562.4		NA																	0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1912-1914)cCt>cAt		exostosin-like glycosyltransferase 3							81.0	80.0	80.0					8																	28575489		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575489C>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1913C>A	8.37:g.28575489C>A	ENSP00000220562:p.Pro638His	False	False		Somatic	0				EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P254H	p.P638H	NM_001440.2	NP_001431.1	WXS	Illumina HiSeq	Phase_I	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2815	+		Ovarian(32;0.069)	638					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1913C>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896758	0.72639	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.97016	-3.64;-4.21	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98335	1.0535	10	0.87932	D	0	-20.1467	20.2982	0.98569	0.0:1.0:0.0:0.0	.	638	O43909	EXTL3_HUMAN	H	254;638	ENSP00000428691:P254H;ENSP00000220562:P638H	ENSP00000220562:P638H	P	+	2	0	EXTL3	28631408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.567000	0.82357	2.873000	0.98535	0.563000	0.77884	CCT		0.557	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	0	NM_001440		8:28575489
THOC5	8563	broad.mit.edu	37	22	29915009	29915009	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:29915009T>C	ENST00000490103.1	-	15	1597	c.1475A>G	c.(1474-1476)cAg>cGg	p.Q492R	THOC5_ENST00000397871.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397872.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397873.2_Missense_Mutation_p.Q492R|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	492					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGATGCAAACTGTTTGTGGAG	0.507																																						ENST00000490103.1		NA																	0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1474-1476)cAg>cGg		THO complex 5							231.0	197.0	209.0					22																	29915009		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29915009T>C	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1475A>G	22.37:g.29915009T>C	ENSP00000420306:p.Gln492Arg	False	False		Somatic	0				CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397873.2_Missense_Mutation_p.Q492R|THOC5_ENST00000397872.1_Missense_Mutation_p.Q492R	p.Q492R	NM_003678.4	NP_003669.4	WXS	Illumina HiSeq	Phase_I	Q13769	THOC5_HUMAN			15	1597	-			492					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1475A>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858213	0.91433	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.29274	-1.0017	10	0.45353	T	0.12	-17.1228	15.0502	0.71862	0.0:0.0:0.0:1.0	.	492	Q13769	THOC5_HUMAN	R	492	ENSP00000420306:Q492R;ENSP00000380970:Q492R;ENSP00000380969:Q492R;ENSP00000380971:Q492R	ENSP00000380969:Q492R	Q	-	2	0	THOC5	28245009	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.779000	0.85648	2.201000	0.70794	0.533000	0.62120	CAG		0.507	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	0	NM_003678		22:29915009
RNF38	152006	broad.mit.edu	37	9	36351150	36351150	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351150C>T	ENST00000259605.6	-	9	1332	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	RNF38_ENST00000350199.4_Missense_Mutation_p.E326K|RNF38_ENST00000377877.4_Missense_Mutation_p.E333K|RNF38_ENST00000357058.3_Missense_Mutation_p.E326K|RNF38_ENST00000353739.4_Missense_Mutation_p.E359K|RNF38_ENST00000377885.2_Missense_Mutation_p.E326K	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	409					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACATCTAATTCAAAGCTGAAA	0.358																																						ENST00000357058.3		NA																	0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(976-978)Gaa>Aaa		ring finger protein 38							82.0	78.0	79.0					9																	36351150		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36351150C>T		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1225G>A	9.37:g.36351150C>T	ENSP00000259605:p.Glu409Lys	True	False		Somatic	0				RNF38_ENST00000353739.4_Missense_Mutation_p.E359K|RNF38_ENST00000350199.4_Missense_Mutation_p.E326K|RNF38_ENST00000377877.4_Missense_Mutation_p.E333K|RNF38_ENST00000377885.2_Missense_Mutation_p.E326K|RNF38_ENST00000259605.6_Missense_Mutation_p.E409K	p.E326K	NM_194328.2	NP_919309.1	WXS	Illumina HiSeq	Phase_I	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		9	1582	-			409			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.976G>A	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451466	0.84209	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	L	0.40543	1.245	0.80722	D	1	P;B;P	0.47910	0.82;0.38;0.902	P;B;P	0.46110	0.504;0.291;0.504	T	0.54596	-0.8270	10	0.54805	T	0.06	-6.5436	16.4624	0.84064	0.0:1.0:0.0:0.0	.	333;359;409	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	K	409;359;326;326;326;226;333;333	ENSP00000259605:E409K;ENSP00000335239:E359K;ENSP00000367117:E326K;ENSP00000349566:E326K;ENSP00000343947:E326K;ENSP00000367109:E333K	ENSP00000259605:E409K	E	-	1	0	RNF38	36341150	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.061000	0.76699	2.553000	0.86117	0.563000	0.77884	GAA		0.358	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	0	NM_022781		9:36351150
CYP8B1	1582	broad.mit.edu	37	3	42917299	42917299	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:42917299A>C	ENST00000316161.4	-	1	334	c.10T>G	c.(10-12)Tgg>Ggg	p.W4G	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W4G	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	4					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ACTGGACCCCAGAGAACCATG	0.592																																						ENST00000316161.4		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(10-12)Tgg>Ggg		cytochrome P450, family 8, subfamily B, polypeptide 1							30.0	31.0	31.0					3																	42917299		2191	4282	6473	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42917299A>C	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.10T>G	3.37:g.42917299A>C	ENSP00000318867:p.Trp4Gly	True	False		Somatic	0				KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W4G	p.W4G	NM_004391.2	NP_004382.2	WXS	Illumina HiSeq	Phase_I	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	334	-			4					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.10T>G	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634875	0.47049	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.74947	-0.73;-0.89	4.89	4.89	0.63831	.	0.287902	0.27513	N	0.019032	T	0.71281	0.3321	N	0.08118	0	0.32807	D	0.500855	D;D	0.76494	0.999;0.988	D;P	0.63488	0.915;0.779	T	0.80111	-0.1519	10	0.87932	D	0	-13.3635	13.6159	0.62108	1.0:0.0:0.0:0.0	.	4;4	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	G	4	ENSP00000404499:W4G;ENSP00000318867:W4G	ENSP00000318867:W4G	W	-	1	0	CYP8B1	42892303	1.000000	0.71417	0.997000	0.53966	0.298000	0.27526	5.950000	0.70265	2.064000	0.61679	0.459000	0.35465	TGG		0.592	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	0	NM_004391		3:42917299
FRG1B	284802	broad.mit.edu	37	20	29628264	29628264	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:29628264T>A	ENST00000278882.3	+	6	646	c.266T>A	c.(265-267)aTt>aAt	p.I89N	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94N|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGCTGCTTTATTAGATGCAAT	0.363																																						ENST00000278882.3		NA																	0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)aTt>aAt																																						SO:0001583	missense	0							g.chr20:29628264T>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.266T>A	20.37:g.29628264T>A	ENSP00000278882:p.Ile89Asn	False	False		Somatic	0				FRG1B_ENST00000358464.4_Missense_Mutation_p.I89N|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94N	p.I89N			WXS	Illumina HiSeq	Phase_I					6	646	+			NA					C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.266T>A		.	.	.	.	.	.	.	.	.	.	t	18.04	3.534926	0.64972	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53423	0.62	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.62829	0.2460	.	.	.	0.43988	D	0.996688	D;D	0.71674	0.993;0.998	D;D	0.75484	0.986;0.982	T	0.64927	-0.6292	9	0.87932	D	0	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	89;94;89	ENSP00000408863:I94N	ENSP00000278882:I89N	I	+	2	0	FRG1B	28241925	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	0	NR_003579		20:29628264
MISP	126353	broad.mit.edu	37	19	757669	757669	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:757669C>T	ENST00000215582.6	+	2	826	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	241					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ACCTGGCCAACGGGCACGTGG	0.672																																						ENST00000215582.6		NA																	0					NA						c.(721-723)aaC>aaT		mitotic spindle positioning							24.0	27.0	26.0					19																	757669		2203	4300	6503	SO:0001819	synonymous_variant	126353							g.chr19:757669C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.723C>T	19.37:g.757669C>T		True	False		Somatic	0					p.N241N	NM_173481.2	NP_775752.1	WXS	Illumina HiSeq	Phase_I					2	826	+			NA						Silent	SNP	ENST00000215582.6	37	c.723C>T	CCDS12042.1																																																																																				0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	0	NM_173481		19:757669
B4GALNT2	124872	broad.mit.edu	37	17	47230177	47230177	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:47230177C>T	ENST00000300404.2	+	4	608	c.549C>T	c.(547-549)cgC>cgT	p.R183R	B4GALNT2_ENST00000393354.2_Silent_p.R123R|B4GALNT2_ENST00000504681.1_Silent_p.R97R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	183					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGCTGCCCCGCCCACTGCCCC	0.617																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2		NA																	0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(547-549)cgC>cgT		beta-1,4-N-acetyl-galactosaminyl transferase 2							39.0	29.0	32.0					17																	47230177		2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47230177C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.549C>T	17.37:g.47230177C>T		True	False		Somatic	0				B4GALNT2_ENST00000504681.1_Silent_p.R97R|B4GALNT2_ENST00000393354.2_Silent_p.R123R	p.R183R	NM_153446.2	NP_703147.2	WXS	Illumina HiSeq	Phase_I	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		4	608	+			183					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.549C>T	CCDS11544.1																																																																																				0.617	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	0	NM_153446		17:47230177
BIK	638	broad.mit.edu	37	22	43524566	43524566	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:43524566G>C	ENST00000216115.2	+	4	388	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	109					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				AAGTTTCATGGACGGTTTCAC	0.517																																						ENST00000216115.2		NA																	0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(325-327)Gac>Cac		BCL2-interacting killer (apoptosis-inducing)							130.0	126.0	128.0					22																	43524566		2203	4300	6503	SO:0001583	missense	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43524566G>C	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.325G>C	22.37:g.43524566G>C	ENSP00000216115:p.Asp109His	False	False		Somatic	0					p.D109H	NM_001197.4	NP_001188.1	WXS	Illumina HiSeq	Phase_I	Q13323	BIK_HUMAN			4	388	+		Ovarian(80;0.0694)	109					Q16582|Q6FH93	Missense_Mutation	SNP	ENST00000216115.2	37	c.325G>C	CCDS14044.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929535	0.34096	.	.	ENSG00000100290	ENST00000216115	T	0.25414	1.8	3.65	-1.33	0.09172	.	.	.	.	.	T	0.24160	0.0585	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	P	0.59948	0.866	T	0.16958	-1.0385	9	0.38643	T	0.18	2.1384	4.952	0.14019	0.2262:0.357:0.4168:0.0	.	109	Q13323	BIK_HUMAN	H	109	ENSP00000216115:D109H	ENSP00000216115:D109H	D	+	1	0	BIK	41854510	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.703000	0.01900	-0.087000	0.12528	0.462000	0.41574	GAC		0.517	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	0	NM_001197		22:43524566
KNSTRN	90417	broad.mit.edu	37	15	40682085	40682085	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:40682085C>T	ENST00000249776.8	+	6	755	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	KNSTRN_ENST00000448395.2_Missense_Mutation_p.R214W|KNSTRN_ENST00000608100.1_Missense_Mutation_p.R136W|KNSTRN_ENST00000416151.2_Missense_Mutation_p.R214W	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		GGAGAAGTTTCGGGACAACTG	0.522																																						ENST00000416151.2		NA																	0					NA						c.(640-642)Cgg>Tgg		kinetochore-localized astrin/SPAG5 binding protein							128.0	136.0	134.0					15																	40682085		2002	4179	6181	SO:0001583	missense	90417							g.chr15:40682085C>T	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.640C>T	15.37:g.40682085C>T	ENSP00000249776:p.Arg214Trp	True	False		Somatic	0				KNSTRN_ENST00000448395.2_Missense_Mutation_p.R214W|KNSTRN_ENST00000249776.8_Missense_Mutation_p.R214W|KNSTRN_ENST00000608100.1_Missense_Mutation_p.R136W	p.R214W	NM_001142761.1	NP_001136233.1	WXS	Illumina HiSeq	Phase_I					6	755	+			NA						Missense_Mutation	SNP	ENST00000249776.8	37	c.640C>T	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529534	0.85706	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.26067	1.76;1.76;1.76	5.21	5.21	0.72293	.	0.159640	0.43579	D	0.000542	T	0.23330	0.0564	N	0.08118	0	0.27533	N	0.951024	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.53649	0.731;0.731;0.648	T	0.09751	-1.0660	10	0.72032	D	0.01	-4.4014	14.1201	0.65182	0.0:1.0:0.0:0.0	.	214;214;214	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	W	214	ENSP00000249776:R214W;ENSP00000391233:R214W;ENSP00000393001:R214W	ENSP00000249776:R214W	R	+	1	2	C15orf23	38469377	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.416000	0.44644	2.696000	0.92011	0.655000	0.94253	CGG		0.522	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	0	NM_001142761		15:40682085
CPEB1	64506	broad.mit.edu	37	15	83215935	83215935	+	Missense_Mutation	SNP	G	G	T	rs374011661		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:83215935G>T	ENST00000562019.1	-	10	1783	c.1467C>A	c.(1465-1467)agC>agA	p.S489R	CPEB1_ENST00000423133.2_Missense_Mutation_p.S409R|CPEB1_ENST00000398592.2_Missense_Mutation_p.S258R|CPEB1_ENST00000261723.6_Missense_Mutation_p.S487R|CPEB1_ENST00000564522.1_Missense_Mutation_p.S409R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S484R|CPEB1_ENST00000450751.2_Missense_Mutation_p.S409R|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A219E|CPEB1_ENST00000563800.1_Missense_Mutation_p.S511R|CPEB1_ENST00000568757.1_Missense_Mutation_p.S409R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.S414R			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	489	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAAAAGCAGCGCTGACTGCTT	0.463																																						ENST00000563800.1		NA																	0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(1531-1533)agC>agA		cytoplasmic polyadenylation element binding protein 1							92.0	87.0	89.0					15																	83215935		1918	4146	6064	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83215935G>T	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1467C>A	15.37:g.83215935G>T	ENSP00000457836:p.Ser489Arg	False	False		Somatic	0				CPEB1_ENST00000261723.6_Missense_Mutation_p.S487R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.S409R|CPEB1_ENST00000562019.1_Missense_Mutation_p.S489R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S414R|CPEB1_ENST00000564522.1_Missense_Mutation_p.S409R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S484R|CPEB1_ENST00000450751.2_Missense_Mutation_p.S409R|CPEB1_ENST00000423133.2_Missense_Mutation_p.S409R|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A219E|CPEB1_ENST00000398592.2_Missense_Mutation_p.S258R	p.S511R			WXS	Illumina HiSeq	Phase_I	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		10	3258	-			489			Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1533C>A		.	.	.	.	.	.	.	.	.	.	g	14.03	2.412804	0.42817	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.18	-2.21	0.06973	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.284954	0.37348	U	0.002129	T	0.10723	0.0262	N	0.14661	0.345	0.44736	D	0.997731	B;B;B;B	0.25351	0.124;0.024;0.021;0.024	B;B;B;B	0.20184	0.015;0.01;0.028;0.01	T	0.08493	-1.0719	10	0.54805	T	0.06	-7.0429	11.4101	0.49921	0.5705:0.0:0.4295:0.0	.	487;484;489;484	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	R	484;484;409;414;487;258	ENSP00000397526:S409R;ENSP00000381591:S414R;ENSP00000261723:S487R;ENSP00000381592:S258R	ENSP00000261723:S487R	S	-	3	2	CPEB1	81012990	0.145000	0.22656	0.984000	0.44739	0.985000	0.73830	-0.371000	0.07513	-0.518000	0.06452	-0.423000	0.05987	AGC		0.463	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	0	NM_030594		15:83215935
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1		NA																	1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141.0	161.0	154.0					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser	False	False		Somatic	0				SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S	p.P752S			WXS	Illumina HiSeq	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	0	NM_003603		4:186544317
L3MBTL2	83746	broad.mit.edu	37	22	41620150	41620150	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:41620150T>A	ENST00000216237.5	+	9	1227	c.1069T>A	c.(1069-1071)Tac>Aac	p.Y357N		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	357					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGGCTCCTCTACGAGGATGG	0.612																																						ENST00000216237.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1069-1071)Tac>Aac		l(3)mbt-like 2 (Drosophila)							75.0	67.0	70.0					22																	41620150		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620150T>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1069T>A	22.37:g.41620150T>A	ENSP00000216237:p.Tyr357Asn	False	False		Somatic	0					p.Y357N	NM_031488.4	NP_113676.2	WXS	Illumina HiSeq	Phase_I	Q969R5	LMBL2_HUMAN			9	1227	+			357					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1069T>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987915	0.93106	.	.	ENSG00000100395	ENST00000216237	T	0.35789	1.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72947	-0.4137	10	0.87932	D	0	.	15.1768	0.72920	0.0:0.0:0.0:1.0	.	357;357	Q969R5-3;Q969R5	.;LMBL2_HUMAN	N	357	ENSP00000216237:Y357N	ENSP00000216237:Y357N	Y	+	1	0	L3MBTL2	39950096	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.305000	0.72805	2.008000	0.58898	0.533000	0.62120	TAC		0.612	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	0	NM_031488		22:41620150
GIMAP1	170575	broad.mit.edu	37	7	150417597	150417597	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150417597A>C	ENST00000307194.5	+	3	645	c.505A>C	c.(505-507)Aca>Cca	p.T169P		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	169	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGAGCAACACAGAGAACCG	0.647																																						ENST00000307194.5		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(505-507)Aca>Cca		GTPase, IMAP family member 1							53.0	56.0	55.0					7																	150417597		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417597A>C	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.505A>C	7.37:g.150417597A>C	ENSP00000302833:p.Thr169Pro	False	False		Somatic	0					p.T169P	NM_130759.3	NP_570115.1	WXS	Illumina HiSeq	Phase_I			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	645	+			NA					B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.505A>C	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407461	0.25378	.	.	ENSG00000213203	ENST00000307194	T	0.60672	0.17	4.81	1.04	0.20106	AIG1 (1);	0.325956	0.28431	U	0.015380	T	0.63307	0.2500	M	0.64170	1.965	0.09310	N	1	P	0.47910	0.902	P	0.61397	0.888	T	0.53493	-0.8431	10	0.56958	D	0.05	.	3.4499	0.07494	0.5502:0.0:0.0968:0.353	.	169	Q8WWP7	GIMA1_HUMAN	P	169	ENSP00000302833:T169P	ENSP00000302833:T169P	T	+	1	0	GIMAP1	150048530	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	0.636000	0.24644	0.033000	0.15463	-0.309000	0.09137	ACA		0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	0	NM_130759		7:150417597
DMRTA2	63950	broad.mit.edu	37	1	50884890	50884890	+	Missense_Mutation	SNP	G	G	A	rs533329963	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:50884890G>A	ENST00000404795.3	-	3	1468	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V	DMRTA2_ENST00000418121.1_Missense_Mutation_p.A359V	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	359	Ala-rich.|Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CAGGCCGGCCGCCAGGCCCCC	0.766													G|||	2	0.000399361	0.0	0.0	5008	,	,		8501	0.002		0.0	False		,,,				2504	0.0				Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	ENST00000404795.3		NA																	0				endometrium(1)|lung(4)|pancreas(1)	6						c.(1075-1077)gCg>gTg		DMRT-like family A2							4.0	5.0	5.0					1																	50884890		1557	3478	5035	SO:0001583	missense	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50884890G>A	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.1076C>T	1.37:g.50884890G>A	ENSP00000383909:p.Ala359Val	True	False		Somatic	0				DMRTA2_ENST00000418121.1_Missense_Mutation_p.A359V	p.A359V	NM_032110.2	NP_115486.1	WXS	Illumina HiSeq	Phase_I	Q96SC8	DMTA2_HUMAN			3	1468	-			359			Ala-rich.|Gly-rich.		Q5TFQ3	Missense_Mutation	SNP	ENST00000404795.3	37	c.1076C>T	CCDS44141.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669542	0.29693	.	.	ENSG00000142700	ENST00000404795;ENST00000418121	T;T	0.32272	1.46;1.46	3.31	1.39	0.22231	UBA-like (1);	0.812390	0.10993	N	0.611379	T	0.10937	0.0267	N	0.02011	-0.69	0.27973	N	0.936345	B	0.06786	0.001	B	0.01281	0.0	T	0.27468	-1.0073	10	0.28530	T	0.3	-6.7493	6.4694	0.21999	0.3416:0.0:0.6584:0.0	.	359	Q96SC8	DMTA2_HUMAN	V	359	ENSP00000383909:A359V;ENSP00000399370:A359V	ENSP00000383909:A359V	A	-	2	0	DMRTA2	50657477	0.569000	0.26643	0.997000	0.53966	0.640000	0.38277	0.181000	0.16880	0.722000	0.32252	0.462000	0.41574	GCG		0.766	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	0	NM_032110		1:50884890
BDKRB2	624	broad.mit.edu	37	14	96703485	96703485	+	Missense_Mutation	SNP	G	G	A	rs200131401		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:96703485G>A	ENST00000306005.3	+	2	237	c.41G>A	c.(40-42)cGt>cAt	p.R14H	RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000542454.2_5'UTR	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	14			R -> C (in dbSNP:rs1046248). {ECO:0000269|PubMed:7779090, ECO:0000269|Ref.8}.		arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTGTCTGTTCGTGAGGACTCC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21667	0.0		0.0	False		,,,				2504	0.0					ENST00000306005.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(40-42)cGt>cAt		bradykinin receptor B2							196.0	157.0	170.0					14																	96703485		2203	4300	6503	SO:0001583	missense	0				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96703485G>A	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.41G>A	14.37:g.96703485G>A	ENSP00000307713:p.Arg14His	False	False		Somatic	0				BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000542454.2_5'UTR|RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R14H	p.R14H	NM_000623.3	NP_000614.1	WXS	Illumina HiSeq	Phase_I	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	2	237	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	14		R -> C (in dbSNP:rs1046248).				Missense_Mutation	SNP	ENST00000306005.3	37	c.41G>A	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247970	0.39697	.	.	ENSG00000168398;ENSG00000168398;ENSG00000258691	ENST00000554311;ENST00000306005;ENST00000553811	T;T;T	0.71934	-0.61;-0.61;1.71	3.71	-2.22	0.06952	.	2.399830	0.01945	N	0.042183	T	0.41050	0.1142	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41787	-0.9489	10	0.05351	T	0.99	.	0.5426	0.00648	0.3331:0.1884:0.2948:0.1837	.	14	P30411	BKRB2_HUMAN	H	14	ENSP00000450482:R14H;ENSP00000307713:R14H;ENSP00000450984:R14H	ENSP00000307713:R14H	R	+	2	0	RP11-404P21.8;BDKRB2	95773238	0.019000	0.18553	0.000000	0.03702	0.002000	0.02628	-0.001000	0.12947	-0.415000	0.07484	-1.880000	0.00545	CGT		0.527	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1	0			14:96703485
DGKK	139189	broad.mit.edu	37	X	50136189	50136189	+	RNA	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50136189G>T	ENST00000376025.2	-	0	1615							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAACACTTGAGATGGGTTAAG	0.453																																						ENST00000376025.2		NA																	0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							74.0	66.0	69.0					X																	50136189		1990	4141	6131			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50136189G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50136189G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q5KSL6	DGKK_HUMAN			0	1615	-	Ovarian(276;0.236)		NA					B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.453	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	0	NM_001013742		X:50136189
ADRA1A	148	broad.mit.edu	37	8	26722090	26722090	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:26722090G>A	ENST00000519229.1	-	1	403	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ADRA1A_ENST00000358857.5_Missense_Mutation_p.R133C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.R133C|ADRA1A_ENST00000380587.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380573.3_Missense_Mutation_p.R133C			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	203					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTTGGGTAGCGCAGCGGGTAG	0.617																																						ENST00000380573.3		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(397-399)Cgc>Tgc		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						73.0	73.0	73.0					8																	26722090		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722090G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.397C>T	8.37:g.26722090G>A	ENSP00000430793:p.Arg133Cys	False	False		Somatic	0				ADRA1A_ENST00000380587.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R133C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.R133C	p.R133C			WXS	Illumina HiSeq	Phase_I	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1420	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	133					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.397C>T		.	.	.	.	.	.	.	.	.	.	G	18.33	3.599366	0.66332	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.058843	0.64402	D	0.000001	T	0.67429	0.2892	M	0.89214	3.015	0.54753	D	0.999985	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.75020	0.975;0.975;0.973;0.975;0.95;0.985	T	0.73585	-0.3936	10	0.87932	D	0	.	11.6903	0.51512	0.0:0.0:0.7031:0.2969	.	133;133;133;133;133;133	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	C	133	ENSP00000369960:R133C;ENSP00000369961:R133C;ENSP00000369956:R133C;ENSP00000369955:R133C;ENSP00000430793:R133C;ENSP00000346557:R133C;ENSP00000276393:R133C;ENSP00000369947:R133C;ENSP00000369946:R133C;ENSP00000351725:R133C	ENSP00000276393:R133C	R	-	1	0	ADRA1A	26778007	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.027000	0.64109	2.423000	0.82170	0.563000	0.77884	CGC		0.617	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	0	NM_033303		8:26722090
TULP3	7289	broad.mit.edu	37	12	3042674	3042674	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:3042674G>A	ENST00000448120.2	+	7	838	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TULP3_ENST00000397132.2_Missense_Mutation_p.E263K	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	263					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCGTGAAGGAGAAAGTTATGT	0.398																																						ENST00000448120.2		NA																	0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(787-789)Gaa>Aaa		tubby like protein 3							130.0	118.0	122.0					12																	3042674		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3042674G>A	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.787G>A	12.37:g.3042674G>A	ENSP00000410051:p.Glu263Lys	True	False		Somatic	0				TULP3_ENST00000397132.2_Missense_Mutation_p.E263K	p.E263K	NM_003324.4	NP_003315.2	WXS	Illumina HiSeq	Phase_I	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		7	838	+			263					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.787G>A	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082869	0.76642	.	.	ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132	D;D	0.85702	-2.02;-2.02	5.3	3.42	0.39159	Tubby, C-terminal (4);	0.254970	0.46442	D	0.000292	D	0.88775	0.6528	M	0.72479	2.2	0.50632	D	0.999881	P;P;D	0.59357	0.755;0.868;0.985	P;P;P	0.59288	0.752;0.854;0.855	D	0.87634	0.2518	10	0.72032	D	0.01	-0.7952	9.1654	0.37048	0.0765:0.0:0.7778:0.1457	.	120;263;263	B7Z1E7;O75386;F8WBZ9	.;TULP3_HUMAN;.	K	263;120;263;263	ENSP00000410051:E263K;ENSP00000380321:E263K	ENSP00000228245:E263K	E	+	1	0	TULP3	2912935	1.000000	0.71417	0.878000	0.34440	0.654000	0.38779	7.869000	0.87170	0.573000	0.29400	0.561000	0.74099	GAA		0.398	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	0	NM_003324		12:3042674
CDH8	1006	broad.mit.edu	37	16	62055298	62055298	+	Missense_Mutation	SNP	G	G	A	rs139797882		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:62055298G>A	ENST00000577390.1	-	2	964	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	CDH8_ENST00000299345.6_Missense_Mutation_p.R4W|CDH8_ENST00000577730.1_Missense_Mutation_p.R4W|CDH8_ENST00000584337.1_Missense_Mutation_p.R4W	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	4					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCGCTAGCCGTTCTGGCATG	0.443																																						ENST00000577390.1		NA																	0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(10-12)Cgg>Tgg		cadherin 8, type 2							63.0	66.0	65.0					16																	62055298		2201	4295	6496	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055298G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.10C>T	16.37:g.62055298G>A	ENSP00000462701:p.Arg4Trp	False	False		Somatic	0				CDH8_ENST00000299345.6_Missense_Mutation_p.R4W|CDH8_ENST00000577730.1_Missense_Mutation_p.R4W|CDH8_ENST00000584337.1_Missense_Mutation_p.R4W	p.R4W	NM_001796.4	NP_001787.2	WXS	Illumina HiSeq	Phase_I	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	964	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	4					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.10C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920100	0.73098	.	.	ENSG00000150394	ENST00000299345	T	0.59083	0.29	6.17	5.2	0.72013	.	0.068663	0.64402	D	0.000020	T	0.69360	0.3102	L	0.47716	1.5	0.39308	D	0.965029	D	0.89917	1.0	D	0.77557	0.99	T	0.73792	-0.3871	10	0.87932	D	0	.	13.5257	0.61593	0.0:0.0:0.5605:0.4395	.	4	P55286	CADH8_HUMAN	W	4	ENSP00000299345:R4W	ENSP00000299345:R4W	R	-	1	2	CDH8	60612799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.750000	0.47500	1.564000	0.49628	0.655000	0.94253	CGG		0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	0	NM_001796		16:62055298
SUSD2	56241	broad.mit.edu	37	22	24579094	24579094	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:24579094C>G	ENST00000358321.3	+	2	407	c.146C>G	c.(145-147)tCt>tGt	p.S49C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	49	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCGACGTGCTCTGGCCTTGGC	0.632																																						ENST00000358321.3		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(145-147)tCt>tGt		sushi domain containing 2							135.0	147.0	143.0					22																	24579094		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579094C>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.146C>G	22.37:g.24579094C>G	ENSP00000351075:p.Ser49Cys	False	False		Somatic	0					p.S49C	NM_019601.3	NP_062547.1	WXS	Illumina HiSeq	Phase_I	Q9UGT4	SUSD2_HUMAN			2	407	+			49			SMB.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.146C>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	7.214	0.596096	0.13875	.	.	ENSG00000099994	ENST00000358321	T	0.44482	0.92	3.76	1.58	0.23477	Somatomedin B domain (4);	1.140860	0.06462	N	0.729556	T	0.38931	0.1059	L	0.44542	1.39	0.09310	N	1	P	0.40731	0.728	P	0.44732	0.459	T	0.30679	-0.9970	10	0.51188	T	0.08	-8.1814	3.3614	0.07188	0.1932:0.5932:0.0:0.2136	.	49	Q9UGT4	SUSD2_HUMAN	C	49	ENSP00000351075:S49C	ENSP00000351075:S49C	S	+	2	0	SUSD2	22909094	0.000000	0.05858	0.353000	0.25747	0.062000	0.15995	-3.602000	0.00418	0.371000	0.24564	0.449000	0.29647	TCT		0.632	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	0	NM_019601		22:24579094
PTPRR	5801	broad.mit.edu	37	12	71029558	71029558	+	IGR	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:71029558C>T	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Missense_Mutation_p.G115D|PTPRB_ENST00000551525.1_Missense_Mutation_p.G114D|PTPRB_ENST00000550358.1_Missense_Mutation_p.G115D|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000538174.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACTCTGGAGCCTTGTTTCTG	0.493																																						ENST00000334414.6		NA																	0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(343-345)gGc>gAc		protein tyrosine phosphatase, receptor type, B							56.0	53.0	54.0					12																	71029558		1894	4118	6012	SO:0001628	intergenic_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029558C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029558C>T		False	False		Somatic	0				PTPRB_ENST00000551525.1_Missense_Mutation_p.G114D|PTPRB_ENST00000550358.1_Missense_Mutation_p.G115D|PTPRB_ENST00000538174.2_5'UTR	p.G115D	NM_001109754.2	NP_001103224.1	WXS	Illumina HiSeq	Phase_I	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	388	-	Renal(347;0.236)		0			Fibronectin type-III 2.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.344G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636488	0.29068	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.30182	1.54;1.54;1.54	6.04	4.22	0.49857	.	.	.	.	.	T	0.31796	0.0808	L	0.27053	0.805	0.80722	D	1	P;P;P;P	0.52463	0.953;0.661;0.947;0.947	P;P;P;P	0.51657	0.661;0.508;0.676;0.676	T	0.04796	-1.0926	9	0.56958	D	0.05	.	12.2951	0.54842	0.0:0.8621:0.0:0.1379	.	115;114;115;115	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	D	115;115;115;114	ENSP00000334928:G115D;ENSP00000448058:G115D;ENSP00000448349:G114D	ENSP00000334928:G115D	G	-	2	0	PTPRB	69315825	1.000000	0.71417	0.552000	0.28243	0.080000	0.17528	3.104000	0.50306	0.876000	0.35872	-0.244000	0.11960	GGC		0.493	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	0	NM_002849		12:71029558
HACE1	57531	broad.mit.edu	37	6	105198307	105198307	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:105198307C>G	ENST00000262903.4	-	20	2528	c.2252G>C	c.(2251-2253)aGa>aCa	p.R751T	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.R536T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGAATGGCTCTTGTCATTCG	0.368																																						ENST00000262903.4		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2251-2253)aGa>aCa		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							112.0	104.0	107.0					6																	105198307		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198307C>G	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2252G>C	6.37:g.105198307C>G	ENSP00000262903:p.Arg751Thr	False	False		Somatic	0				HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.R536T	p.R751T	NM_020771.3	NP_065822.2	WXS	Illumina HiSeq	Phase_I	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2528	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	751			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2252G>C	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872626	0.72180	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.56776	0.44;0.44	5.0	5.0	0.66597	HECT (4);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	N	0.25286	0.73	0.34010	D	0.651392	B;P;D;D	0.59357	0.347;0.901;0.985;0.981	B;P;D;D	0.69824	0.387;0.453;0.966;0.943	T	0.36456	-0.9747	10	0.17369	T	0.5	.	18.6385	0.91386	0.0:1.0:0.0:0.0	.	536;240;751;404	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	T	751;536	ENSP00000262903:R751T;ENSP00000358121:R536T	ENSP00000262903:R751T	R	-	2	0	HACE1	105305000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.473000	0.83533	0.563000	0.77884	AGA		0.368	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	0	XM_045095		6:105198307
UGT1A10	54575	broad.mit.edu	37	2	234545236	234545236	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234545236C>T	ENST00000344644.5	+	1	137	c.68C>T	c.(67-69)gCc>gTc	p.A23V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	23				MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). {ECO:0000305}.	cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGTGGCTTTGCCGAGGCAGGG	0.592																																						ENST00000344644.5		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(67-69)gCc>gTc									102.0	95.0	97.0					2																	234545236		2203	4300	6503	SO:0001583	missense	0							g.chr2:234545236C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.68C>T	2.37:g.234545236C>T	ENSP00000343838:p.Ala23Val	False	False		Somatic	0				UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V	p.A23V	NM_019075.2	NP_061948.1	WXS	Illumina HiSeq	Phase_I				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	137	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	NA					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.68C>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	9.852	1.194005	0.22037	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59224	0.28;0.36	3.83	1.94	0.25998	.	.	.	.	.	T	0.40619	0.1124	L	0.31845	0.965	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.23852	0.02;0.049	T	0.28964	-1.0027	9	0.13470	T	0.59	.	5.5238	0.16947	0.0:0.6325:0.1827:0.1848	.	23;23	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	V	23	ENSP00000343838:A23V;ENSP00000362544:A23V	ENSP00000343838:A23V	A	+	2	0	UGT1A10	234209975	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.183000	0.16919	0.376000	0.24707	0.537000	0.68136	GCC		0.592	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	0	NM_019075		2:234545236
BIRC2	329	broad.mit.edu	37	11	102221640	102221640	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:102221640G>C	ENST00000227758.2	+	3	2360	c.961G>C	c.(961-963)Gat>Cat	p.D321H	BIRC2_ENST00000532672.1_Missense_Mutation_p.D300H|BIRC2_ENST00000530675.1_Missense_Mutation_p.D272H|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	321					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATCTGGAGATGATCCATGGGT	0.383																																						ENST00000227758.2		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(961-963)Gat>Cat		baculoviral IAP repeat containing 2							330.0	311.0	317.0					11																	102221640		2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102221640G>C	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.961G>C	11.37:g.102221640G>C	ENSP00000227758:p.Asp321His	False	False		Somatic	0				BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.D272H|BIRC2_ENST00000532672.1_Missense_Mutation_p.D300H	p.D321H	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	WXS	Illumina HiSeq	Phase_I	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	3	2360	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	321					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.961G>C	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175075	0.78564	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T	0.05786	3.39;3.39;3.39	5.86	5.86	0.93980	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52238	-0.8602	10	0.87932	D	0	-17.6801	20.2019	0.98263	0.0:0.0:1.0:0.0	.	321	Q13490	BIRC2_HUMAN	H	272;321;321;300	ENSP00000431723:D272H;ENSP00000227758:D321H;ENSP00000434979:D300H	ENSP00000227758:D321H	D	+	1	0	BIRC2	101726850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.428000	0.73383	2.776000	0.95493	0.655000	0.94253	GAT		0.383	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	0	NM_001166		11:102221640
ZZZ3	26009	broad.mit.edu	37	1	78031331	78031331	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:78031331G>C	ENST00000370801.3	-	15	3181	c.2706C>G	c.(2704-2706)aaC>aaG	p.N902K	ZZZ3_ENST00000370798.1_Missense_Mutation_p.N408K|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	902					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CATGTCATCTGTTTGCTGGAA	0.388																																						ENST00000370801.3		NA																	0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(2704-2706)aaC>aaG		zinc finger, ZZ-type containing 3							179.0	151.0	161.0					1																	78031331		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78031331G>C	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2706C>G	1.37:g.78031331G>C	ENSP00000359837:p.Asn902Lys	True	False		Somatic	0				ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.N408K	p.N902K	NM_015534.4	NP_056349.1	WXS	Illumina HiSeq	Phase_I	Q8IYH5	ZZZ3_HUMAN			15	3181	-			902					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2706C>G	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607382	0.46527	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.15	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	L	0.50333	1.59	0.58432	D	0.999999	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.65067	-0.6258	9	0.87932	D	0	.	9.2332	0.37450	0.2136:0.0:0.7864:0.0	.	408;902;901	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	K	902;408	.	ENSP00000359834:N408K	N	-	3	2	ZZZ3	77803919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.295000	0.51794	1.500000	0.48636	-0.218000	0.12543	AAC		0.388	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	0	NM_015534		1:78031331
FIP1L1	81608	broad.mit.edu	37	4	54248462	54248462	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:54248462G>C	ENST00000337488.6	+	4	382	c.188G>C	c.(187-189)gGa>gCa	p.G63A	FIP1L1_ENST00000358575.5_Missense_Mutation_p.G48A|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G48A|FIP1L1_ENST00000507166.1_Missense_Mutation_p.G63A|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G48A|FIP1L1_ENST00000510668.1_3'UTR	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	63	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTCCATCTGGAATTGAAGAT	0.333			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000507166.1		NA		Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(187-189)gGa>gCa		factor interacting with PAPOLA and CPSF1							155.0	144.0	148.0					4																	54248462		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54248462G>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.188G>C	4.37:g.54248462G>C	ENSP00000336752:p.Gly63Ala	False	False		Somatic	0				FIP1L1_ENST00000337488.6_Missense_Mutation_p.G63A|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G48A|FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G48A|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G48A	p.G63A			WXS	Illumina HiSeq	Phase_I	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		4	188	+			63			Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.188G>C	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844491	0.71488	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.76578	-1.03	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	D	0.82430	0.5035	L	0.36672	1.1	0.54753	D	0.999984	P;D;B;D	0.76494	0.955;0.999;0.217;0.958	P;D;B;P	0.80764	0.756;0.994;0.189;0.671	T	0.78175	-0.2306	10	0.20519	T	0.43	-21.7326	17.912	0.88937	0.0:0.0:1.0:0.0	.	48;48;63;48	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	A	63;48;48;48;63	ENSP00000423325:G63A	ENSP00000302993:G48A	G	+	2	0	FIP1L1	53943219	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.540000	0.45727	2.556000	0.86216	0.655000	0.94253	GGA		0.333	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	0	NM_030917		4:54248462
PRKCDBP	112464	broad.mit.edu	37	11	6340448	6340448	+	Missense_Mutation	SNP	G	G	C	rs144277485		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:6340448G>C	ENST00000303927.3	-	2	901	c.731C>G	c.(730-732)cCc>cGc	p.P244R	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.P276R	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	244					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTCTCCCGGGATCTTCCTC	0.667																																						ENST00000303927.3		NA																	0				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(730-732)cCc>cGc		protein kinase C, delta binding protein		G	ARG/PRO	1,4401	2.1+/-5.4	0,1,2200	106.0	118.0	114.0		731	3.8	1.0	11	dbSNP_134	114	0,8592		0,0,4296	no	missense	PRKCDBP	NM_145040.2	103	0,1,6496	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	244/262	6340448	1,12993	2201	4296	6497	SO:0001583	missense	112464							g.chr11:6340448G>C	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.731C>G	11.37:g.6340448G>C	ENSP00000307292:p.Pro244Arg	True	False		Somatic	0				PRKCDBP_ENST00000530979.1_Missense_Mutation_p.P276R	p.P244R	NM_145040.2	NP_659477.2	WXS	Illumina HiSeq	Phase_I	Q969G5	PRDBP_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	901	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	244						Missense_Mutation	SNP	ENST00000303927.3	37	c.731C>G	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335765	0.60853	2.27E-4	0.0	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.52754	0.65;1.51	4.8	3.82	0.43975	.	0.451085	0.21593	N	0.072064	T	0.43765	0.1262	L	0.27053	0.805	0.31928	N	0.612567	P	0.44429	0.835	P	0.50825	0.651	T	0.54186	-0.8331	10	0.72032	D	0.01	-10.4875	9.4925	0.38969	0.0:0.0:0.7895:0.2105	.	244	Q969G5	PRDBP_HUMAN	R	244;276	ENSP00000307292:P244R;ENSP00000432047:P276R	ENSP00000307292:P244R	P	-	2	0	PRKCDBP	6297024	0.780000	0.28664	1.000000	0.80357	0.728000	0.41692	2.227000	0.42972	2.226000	0.72624	0.561000	0.74099	CCC		0.667	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	0	NM_145040		11:6340448
MYLK	4638	broad.mit.edu	37	3	123418920	123418920	+	Missense_Mutation	SNP	G	G	A	rs202025561		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:123418920G>A	ENST00000475616.1	-	15	3394	c.3395C>T	c.(3394-3396)aCg>aTg	p.T1132M	MYLK_ENST00000346322.5_Missense_Mutation_p.T1063M|MYLK_ENST00000360304.3_Missense_Mutation_p.T1132M|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.T1132M|MYLK_ENST00000360772.3_Missense_Mutation_p.T1132M			Q15746	MYLK_HUMAN	myosin light chain kinase	1132	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				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)		TCCGTTCAGCGTCCAGATGAT	0.567																																						ENST00000360772.3		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3394-3396)aCg>aTg		myosin light chain kinase							103.0	98.0	100.0					3																	123418920		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123418920G>A	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.3395C>T	3.37:g.123418920G>A	ENSP00000418335:p.Thr1132Met	False	False		Somatic	0				MYLK_ENST00000346322.5_Missense_Mutation_p.T1063M|MYLK_ENST00000360304.3_Missense_Mutation_p.T1132M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1132M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1132M	p.T1132M			WXS	Illumina HiSeq	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3773	-		Lung NSC(201;0.0496)	1132			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3395C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664962	0.29604	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.76	3.98	0.46160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32526	0.0832	L	0.29908	0.895	0.32639	N	0.521	B;B;B;B;B;B	0.33512	0.237;0.157;0.379;0.362;0.415;0.279	B;B;B;B;B;B	0.34138	0.11;0.062;0.105;0.11;0.139;0.176	T	0.38308	-0.9667	9	0.33141	T	0.24	.	12.9494	0.58391	0.1201:0.0:0.8799:0.0	.	1132;210;1063;1132;1063;1132	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	M	1132;1132;1132;1063;1132	ENSP00000354004:T1132M;ENSP00000353452:T1132M;ENSP00000352088:T1132M;ENSP00000320622:T1063M;ENSP00000418335:T1132M	ENSP00000320622:T1063M	T	-	2	0	MYLK	124901610	1.000000	0.71417	0.648000	0.29521	0.936000	0.57629	3.938000	0.56583	0.800000	0.34041	0.555000	0.69702	ACG		0.567	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	NM_053025		3:123418920
ADAMTS3	9508	broad.mit.edu	37	4	73414444	73414444	+	Silent	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73414444C>G	ENST00000286657.4	-	3	291	c.255G>C	c.(253-255)acG>acC	p.T85T	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	85					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCCAAATGCCGTGATGTTAA	0.493																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(253-255)acG>acC		ADAM metallopeptidase with thrombospondin type 1 motif, 3							107.0	101.0	103.0					4																	73414444		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414444C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.255G>C	4.37:g.73414444C>G		False	False		Somatic	0				ADAMTS3_ENST00000505193.1_5'UTR	p.T85T	NM_014243.2	NP_055058.2	WXS	Illumina HiSeq	Phase_I	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	291	-			85					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.255G>C	CCDS3553.1																																																																																				0.493	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	0			4:73414444
ITSN2	50618	broad.mit.edu	37	2	24521586	24521586	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:24521586A>G	ENST00000355123.4	-	13	1885	c.1442T>C	c.(1441-1443)aTt>aCt	p.I481T	ITSN2_ENST00000361999.3_Missense_Mutation_p.I481T|ITSN2_ENST00000406921.3_Missense_Mutation_p.I481T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	481					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACCTGACAATTTCTTCTTG	0.398																																						ENST00000355123.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(1441-1443)aTt>aCt		intersectin 2							159.0	156.0	157.0					2																	24521586		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24521586A>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1442T>C	2.37:g.24521586A>G	ENSP00000347244:p.Ile481Thr	True	False		Somatic	0				ITSN2_ENST00000361999.3_Missense_Mutation_p.I481T|ITSN2_ENST00000406921.3_Missense_Mutation_p.I481T	p.I481T	NM_006277.2	NP_006268.2	WXS	Illumina HiSeq	Phase_I	Q9NZM3	ITSN2_HUMAN			13	1885	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		481					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1442T>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339931	0.60963	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.79653	0.08;0.13;0.08;0.56;-1.29	5.24	5.24	0.73138	.	0.000000	0.37577	U	0.002034	D	0.86531	0.5955	L	0.52011	1.625	0.52099	D	0.999941	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	D	0.85992	0.1489	10	0.40728	T	0.16	.	15.4385	0.75165	1.0:0.0:0.0:0.0	.	481;481;481;481	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	T	481;481;481;505;481;506	ENSP00000354561:I481T;ENSP00000347244:I481T;ENSP00000370250:I481T;ENSP00000384499:I481T;ENSP00000391224:I506T	ENSP00000347244:I481T	I	-	2	0	ITSN2	24375090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.614000	0.90917	2.123000	0.65237	0.397000	0.26171	ATT		0.398	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	0	NM_006277		2:24521586
PLK2	10769	broad.mit.edu	37	5	57750426	57750426	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:57750426A>C	ENST00000274289.3	-	14	2342	c.2042T>G	c.(2041-2043)tTa>tGa	p.L681*	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	681					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACATCTTTGTAAGAGCATGTT	0.408																																						ENST00000274289.3		NA																	0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(2041-2043)tTa>tGa		polo-like kinase 2							148.0	141.0	143.0					5																	57750426		2203	4300	6503	SO:0001587	stop_gained	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57750426A>C		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.2042T>G	5.37:g.57750426A>C	ENSP00000274289:p.Leu681*	False	False		Somatic	0				PLK2_ENST00000502671.1_Intron	p.L681*	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	WXS	Illumina HiSeq	Phase_I	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	14	2342	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	681					O60679|Q96CV7|Q9UE61	Nonsense_Mutation	SNP	ENST00000274289.3	37	c.2042T>G	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	A	40	8.531226	0.98852	.	.	ENSG00000145632	ENST00000274289	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-9.6175	16.3662	0.83325	1.0:0.0:0.0:0.0	.	.	.	.	X	681	.	ENSP00000274289:L681X	L	-	2	0	PLK2	57786183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.962000	0.76048	2.274000	0.75844	0.533000	0.62120	TTA		0.408	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	0	NM_006622		5:57750426
ADAMTS3	9508	broad.mit.edu	37	4	73205337	73205337	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73205337C>G	ENST00000286657.4	-	5	771	c.735G>C	c.(733-735)atG>atC	p.M245I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	245					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCGGCGTCTCATTGTTTCAT	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(733-735)atG>atC		ADAM metallopeptidase with thrombospondin type 1 motif, 3							243.0	234.0	237.0					4																	73205337		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205337C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.735G>C	4.37:g.73205337C>G	ENSP00000286657:p.Met245Ile	False	False		Somatic	0					p.M245I	NM_014243.2	NP_055058.2	WXS	Illumina HiSeq	Phase_I	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	771	-			245					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.735G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	3.124	-0.179799	0.06380	.	.	ENSG00000156140	ENST00000286657	T	0.60171	0.21	5.31	1.65	0.23941	.	1.075530	0.07192	N	0.855931	T	0.39572	0.1083	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	10	0.39692	T	0.17	.	2.8231	0.05477	0.2577:0.4819:0.1247:0.1357	.	245	O15072	ATS3_HUMAN	I	245	ENSP00000286657:M245I	ENSP00000286657:M245I	M	-	3	0	ADAMTS3	73424201	0.001000	0.12720	0.019000	0.16419	0.005000	0.04900	-0.034000	0.12225	0.093000	0.17368	-0.300000	0.09419	ATG		0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	0			4:73205337
PCDHGA10	56106	broad.mit.edu	37	5	140793564	140793564	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140793564C>T	ENST00000398610.2	+	1	822	c.822C>T	c.(820-822)gaC>gaT	p.D274D	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	274	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			CCGACAGGGACGAAGGTGCCA	0.458																																						ENST00000398610.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(820-822)gaC>gaT									32.0	35.0	34.0					5																	140793564		1980	4176	6156	SO:0001819	synonymous_variant	0							g.chr5:140793564C>T		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.822C>T	5.37:g.140793564C>T		False	False		Somatic	0				PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron	p.D274D	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	822	+			NA					Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.822C>T	CCDS47292.1																																																																																				0.458	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	0	NM_018913		5:140793564
STEAP3	55240	broad.mit.edu	37	2	120005698	120005698	+	Silent	SNP	C	C	T	rs145832236		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:120005698C>T	ENST00000354888.5	+	4	1440	c.936C>T	c.(934-936)tgC>tgT	p.C312C	STEAP3_ENST00000393108.2_Silent_p.C312C|STEAP3_ENST00000425223.2_Silent_p.C312C|STEAP3_ENST00000393107.2_Silent_p.C312C|STEAP3_ENST00000393110.2_Silent_p.C322C|STEAP3_ENST00000393106.2_Silent_p.C312C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Silent_p.C312C|STEAP3_ENST00000450943.2_Silent_p.C312C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	312	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						GCTTCTTCTGCGCCGCCCTGC	0.677																																						ENST00000354888.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(934-936)tgC>tgT		STEAP family member 3, metalloreductase		C	,,	0,4394		0,0,2197	30.0	27.0	28.0		936,936,966	2.6	1.0	2	dbSNP_134	28	1,8577		0,1,4288	no	coding-synonymous,coding-synonymous,coding-synonymous	STEAP3	NM_001008410.1,NM_018234.2,NM_182915.2	,,	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	,,	312/489,312/489,322/499	120005698	1,12971	2197	4289	6486	SO:0001819	synonymous_variant	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005698C>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.936C>T	2.37:g.120005698C>T		False	False		Somatic	0				STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Silent_p.C312C|STEAP3_ENST00000409811.1_Silent_p.C312C|STEAP3_ENST00000393108.2_Silent_p.C312C|STEAP3_ENST00000393110.2_Silent_p.C322C|STEAP3_ENST00000450943.2_Silent_p.C312C|STEAP3_ENST00000393106.2_Silent_p.C312C|STEAP3_ENST00000393107.2_Silent_p.C312C	p.C312C	NM_182915.2	NP_878919.2	WXS	Illumina HiSeq	Phase_I	Q658P3	STEA3_HUMAN			4	1440	+			312			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Silent	SNP	ENST00000354888.5	37	c.936C>T	CCDS2125.1																																																																																				0.677	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	0	NM_018234		2:120005698
DCST1	149095	broad.mit.edu	37	1	155018875	155018875	+	Missense_Mutation	SNP	C	C	G	rs202162660	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:155018875C>G	ENST00000295542.1	+	13	1504	c.1408C>G	c.(1408-1410)Ctg>Gtg	p.L470V	DCST1_ENST00000423025.2_Missense_Mutation_p.L445V|DCST1_ENST00000392480.1_Missense_Mutation_p.L470V|DCST1_ENST00000368419.2_Missense_Mutation_p.L470V|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	470						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTGCTGCTGCTGGTGGTGCT	0.627													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17877	0.0		0.0	False		,,,				2504	0.0					ENST00000295542.1		NA																	0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1408-1410)Ctg>Gtg		DC-STAMP domain containing 1							172.0	125.0	141.0					1																	155018875		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155018875C>G	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1408C>G	1.37:g.155018875C>G	ENSP00000295542:p.Leu470Val	True	False		Somatic	0				DCST1_ENST00000392480.1_Missense_Mutation_p.L470V|DCST1_ENST00000423025.2_Missense_Mutation_p.L445V|DCST1_ENST00000368419.2_Missense_Mutation_p.L470V	p.L470V	NM_152494.3	NP_689707.2	WXS	Illumina HiSeq	Phase_I	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		13	1504	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		470					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.1408C>G	CCDS1083.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.900	0.956209	0.18507	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.01	2.1	0.27182	Dendritic cell-specific transmembrane protein-like (1);	0.405411	0.23405	N	0.048536	T	0.04003	0.0112	N	0.02539	-0.55	0.29976	N	0.818112	P;P;P	0.45126	0.851;0.817;0.851	B;P;B	0.47705	0.355;0.555;0.355	T	0.22487	-1.0215	10	0.02654	T	1	-16.915	7.2083	0.25919	0.0:0.7176:0.0:0.2824	.	445;495;470	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	V	470;470;445;470	ENSP00000295542:L470V;ENSP00000376271:L470V;ENSP00000387369:L445V;ENSP00000357404:L470V	ENSP00000295542:L470V	L	+	1	2	DCST1	153285499	0.996000	0.38824	0.986000	0.45419	0.571000	0.35966	0.859000	0.27858	0.714000	0.32081	-0.137000	0.14449	CTG		0.627	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	0	NM_152494		1:155018875
FH	2271	broad.mit.edu	37	1	241671912	241671912	+	Silent	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:241671912A>G	ENST00000366560.3	-	5	767	c.729T>C	c.(727-729)acT>acC	p.T243T		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	243					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CCTGCCCAAGAGTAAGTGGAA	0.398			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3		NA	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(727-729)acT>acC		fumarate hydratase							123.0	116.0	118.0					1																	241671912		2203	4300	6503	SO:0001819	synonymous_variant	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241671912A>G	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.729T>C	1.37:g.241671912A>G		False	False		Somatic	0					p.T243T	NM_000143.3	NP_000134.2	WXS	Illumina HiSeq	Phase_I	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	5	767	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	243					B1ANK7	Silent	SNP	ENST00000366560.3	37	c.729T>C	CCDS1617.1																																																																																				0.398	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	0	NM_000143		1:241671912
UPK1A	11045	broad.mit.edu	37	19	36168781	36168781	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:36168781C>G	ENST00000222275.2	+	6	716	c.716C>G	c.(715-717)gCc>gGc	p.A239G	UPK1A_ENST00000379013.2_Missense_Mutation_p.P272A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	239					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTTGGGTTTGCCATCCTGATG	0.657																																						ENST00000222275.2		NA																	0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(715-717)gCc>gGc		uroplakin 1A							77.0	63.0	67.0					19																	36168781		2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36168781C>G	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.716C>G	19.37:g.36168781C>G	ENSP00000222275:p.Ala239Gly	False	False		Somatic	0				UPK1A_ENST00000379013.2_Missense_Mutation_p.P272A	p.A239G	NM_007000.2	NP_008931.1	WXS	Illumina HiSeq	Phase_I	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	716	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		239					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.716C>G	CCDS12470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.625613|3.625613	0.66901|0.66901	.|.	.|.	ENSG00000105668|ENSG00000105668	ENST00000222275|ENST00000379013	T|T	0.77750|0.07216	-1.12|3.21	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|.	.|.	.|.	.|.	T|T	0.09423|0.09423	0.0232|0.0232	L|L	0.48642|0.48642	1.525|1.525	0.39783|0.39783	D|D	0.97232|0.97232	P|P	0.35328|0.37330	0.495|0.59	B|B	0.39339|0.30572	0.297|0.117	T|T	0.04607|0.04607	-1.0939|-1.0939	9|9	0.06236|0.87932	T|D	0.91|0	-5.748|-5.748	15.1232|15.1232	0.72460|0.72460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	239|272	O00322|O00322-2	UPK1A_HUMAN|.	G|A	239|272	ENSP00000222275:A239G|ENSP00000368298:P272A	ENSP00000222275:A239G|ENSP00000368298:P272A	A|P	+|+	2|1	0|0	UPK1A|UPK1A	40860621|40860621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	5.013000|5.013000	0.64023|0.64023	2.643000|2.643000	0.89663|0.89663	0.462000|0.462000	0.41574|0.41574	GCC|CCA		0.657	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3	0			19:36168781
TSSK1B	83942	broad.mit.edu	37	5	112769663	112769663	+	Missense_Mutation	SNP	G	G	A	rs369630791		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:112769663G>A	ENST00000390666.3	-	1	1065	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	292					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCAGTTCCCCGGGAACTCTCC	0.637																																						ENST00000390666.3		NA																	0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(874-876)Cgg>Tgg		testis-specific serine kinase 1B		G	,TRP/ARG	1,4339		0,1,2169	35.0	38.0	37.0		,874	1.2	0.0	5		37	0,8574		0,0,4287	no	intron,missense	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,101	0,1,6456	AA,AG,GG		0.0,0.023,0.0077	,possibly-damaging	,292/368	112769663	1,12913	2170	4287	6457	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769663G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.874C>T	5.37:g.112769663G>A	ENSP00000375081:p.Arg292Trp	True	False		Somatic	0				CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	p.R292W	NM_032028.3	NP_114417.1	WXS	Illumina HiSeq	Phase_I	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	1065	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	292					B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.874C>T	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263874	0.23136	2.3E-4	0.0	ENSG00000212122	ENST00000390666	T	0.69806	-0.43	1.24	1.24	0.21308	Protein kinase-like domain (1);	0.657886	0.11189	U	0.590072	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	B	0.43445	0.42	T	0.26883	-1.0090	10	0.41790	T	0.15	.	5.7504	0.18144	0.0:0.0:1.0:0.0	.	292	Q9BXA7	TSSK1_HUMAN	W	292	ENSP00000375081:R292W	ENSP00000375081:R292W	R	-	1	2	TSSK1B	112797562	0.980000	0.34600	0.001000	0.08648	0.004000	0.04260	4.334000	0.59291	0.653000	0.30826	0.462000	0.41574	CGG		0.637	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	0	NM_032028		5:112769663
MAP3K15	389840	broad.mit.edu	37	X	19418752	19418752	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:19418752G>T	ENST00000338883.4	-	14	1873	c.1874C>A	c.(1873-1875)aCc>aAc	p.T625N	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.T60N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T457N	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	625							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGCTGTATTGGTTATCATCTC	0.433																																						ENST00000338883.4		NA																	0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1873-1875)aCc>aAc		mitogen-activated protein kinase kinase kinase 15							313.0	268.0	283.0					X																	19418752		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19418752G>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1874C>A	X.37:g.19418752G>T	ENSP00000345629:p.Thr625Asn	False	False		Somatic	0				MAP3K15_ENST00000359173.3_Missense_Mutation_p.T60N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T457N|MAP3K15_ENST00000518578.1_5'UTR	p.T625N	NM_001001671.3	NP_001001671.3	WXS	Illumina HiSeq	Phase_I	Q6ZN16	M3K15_HUMAN			14	1873	-	Hepatocellular(33;0.183)		625					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1874C>A		.	.	.	.	.	.	.	.	.	.	G	11.64	1.698917	0.30142	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72615	-0.64;-0.67;-0.63	5.28	2.26	0.28386	.	0.382440	0.28371	N	0.015585	T	0.61800	0.2376	L	0.48642	1.525	0.09310	N	1	B;B	0.23650	0.089;0.024	B;B	0.28709	0.093;0.008	T	0.51616	-0.8683	10	0.33141	T	0.24	.	10.3167	0.43740	0.0:0.2752:0.5848:0.14	.	100;625	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	N	625;60;457	ENSP00000345629:T625N;ENSP00000352093:T60N;ENSP00000428356:T457N	ENSP00000345629:T625N	T	-	2	0	MAP3K15	19328673	0.896000	0.30565	0.038000	0.18304	0.704000	0.40688	2.177000	0.42509	0.397000	0.25310	0.597000	0.82753	ACC		0.433	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_001001671		X:19418752
TMPRSS6	164656	broad.mit.edu	37	22	37466587	37466587	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:37466587C>A	ENST00000346753.3	-	15	1921	c.1805G>T	c.(1804-1806)tGt>tTt	p.C602F	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.C593F	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	602	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGCCCCCCCACAGATGTGTCG	0.662																																						ENST00000381792.2		NA																	0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1777-1779)tGt>tTt		transmembrane protease, serine 6							53.0	56.0	55.0					22																	37466587		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37466587C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1805G>T	22.37:g.37466587C>A	ENSP00000334962:p.Cys602Phe	False	False		Somatic	0				TMPRSS6_ENST00000346753.3_Missense_Mutation_p.C602F|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.C593F	p.C593F			WXS	Illumina HiSeq	Phase_I	Q8IU80	TMPS6_HUMAN			15	1918	-			602			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1778G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928706	0.92389	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.44	5.44	0.79542	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97650	1.0154	10	0.87932	D	0	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	593;602	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	F	593;602;593;593	ENSP00000371211:C593F;ENSP00000334962:C602F;ENSP00000385453:C593F;ENSP00000384964:C593F	ENSP00000334962:C602F	C	-	2	0	TMPRSS6	35796533	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.741000	0.84997	2.540000	0.85666	0.591000	0.81541	TGT		0.662	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	0	NM_153609		22:37466587
KCNG3	170850	broad.mit.edu	37	2	42719978	42719978	+	Splice_Site	SNP	C	C	G	rs375643888		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:42719978C>G	ENST00000306078.1	-	1	1259	c.664G>C	c.(664-666)Ggg>Cgg	p.G222R	KCNG3_ENST00000394973.4_Intron|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	222					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GCGTCCTACCCGGAGGGCTCC	0.711																																						ENST00000306078.1		NA																	0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.(664-666)Ggg>Cgg		potassium voltage-gated channel, subfamily G, member 3							19.0	15.0	16.0					2																	42719978		2182	4272	6454	SO:0001630	splice_region_variant	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42719978C>G	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.665+1G>C	2.37:g.42719978C>G		True	False		Somatic	0				KCNG3_ENST00000394973.4_Intron	p.G222R	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	WXS	Illumina HiSeq	Phase_I	Q8TAE7	KCNG3_HUMAN			1	1259	-			222					Q53SC1	Splice_Site	SNP	ENST00000306078.1	37	c.664G>C	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656292	0.47467	.	.	ENSG00000171126	ENST00000306078	D	0.97328	-4.34	4.85	3.97	0.46021	.	0.983145	0.08331	N	0.962294	D	0.91529	0.7325	N	0.08118	0	0.80722	D	1	P	0.45768	0.866	B	0.35278	0.199	D	0.86409	0.1747	10	0.54805	T	0.06	.	13.3731	0.60723	0.0:0.9238:0.0:0.0762	.	222	Q8TAE7	KCNG3_HUMAN	R	222	ENSP00000304127:G222R	ENSP00000304127:G222R	G	-	1	0	KCNG3	42573482	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.822000	0.69265	1.253000	0.44018	0.563000	0.77884	GGG		0.711	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	0	NM_172344	Missense_Mutation	2:42719978
PLIN4	729359	broad.mit.edu	37	19	4501203	4501203	+	IGR	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:4501203A>G	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Splice_Site_p.D602G|HDGFRP2_ENST00000586684.1_Splice_Site_p.D602G	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCCACCCAGATCTCTCAGCC	0.657																																						ENST00000301284.4		NA																	0					NA						c.(1804-1806)gAt>gGt									42.0	50.0	47.0					19																	4501203		2033	4175	6208	SO:0001628	intergenic_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4501203A>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4501203A>G		True	False		Somatic	0				HDGFRP2_ENST00000586684.1_Splice_Site_p.D602G	p.D602G	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	WXS	Illumina HiSeq	Phase_I	Q7Z4V5	HDGR2_HUMAN			15	1869	+			597					A6NEI2	Splice_Site	SNP	ENST00000301286.3	37	c.1805A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	A	7.470	0.646384	0.14451	.	.	ENSG00000167674	ENST00000301284	T	0.47177	0.85	3.96	2.94	0.34122	.	0.486110	0.18610	N	0.136185	T	0.31136	0.0787	L	0.29908	0.895	0.32476	N	0.542179	B;B	0.15930	0.015;0.003	B;B	0.14578	0.011;0.002	T	0.29640	-1.0005	9	.	.	.	.	7.3182	0.26513	0.8911:0.0:0.1089:0.0	.	597;602	Q7Z4V5-2;C9JEE1	.;.	G	602	ENSP00000301284:D602G	.	D	+	2	0	AC011498.1	4452203	0.914000	0.31030	0.036000	0.18154	0.053000	0.15095	2.902000	0.48703	0.585000	0.29608	0.379000	0.24179	GAT		0.657	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	0	XM_170901		19:4501203
KIAA1210	57481	broad.mit.edu	37	X	118221500	118221500	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:118221500C>A	ENST00000402510.2	-	11	3692	c.3693G>T	c.(3691-3693)aaG>aaT	p.K1231N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1231										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGACTTCAGGCTTTGATAAAG	0.448																																						ENST00000402510.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(3691-3693)aaG>aaT		KIAA1210							39.0	36.0	37.0					X																	118221500		1879	4107	5986	SO:0001583	missense	57481							g.chrX:118221500C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3693G>T	X.37:g.118221500C>A	ENSP00000384670:p.Lys1231Asn	True	False		Somatic	0					p.K1231N	NM_020721.1	NP_065772.1	WXS	Illumina HiSeq	Phase_I	Q9ULL0	K1210_HUMAN			11	3692	-			1231					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.3693G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.176|8.176	0.792717|0.792717	0.16327|0.16327	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.14516	.|2.5	4.38|4.38	-2.02|-2.02	0.07388|0.07388	.|.	.|.	.|.	.|.	.|.	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P	.|0.37573	.|0.6	.|B	.|0.36289	.|0.221	T|T	0.22977|0.22977	-1.0201|-1.0201	5|9	.|0.40728	.|T	.|0.16	.|.	0.6478|0.6478	0.00821|0.00821	0.292:0.2336:0.2834:0.191|0.292:0.2336:0.2834:0.191	.|.	.|1231	.|Q9ULL0	.|K1210_HUMAN	S|N	638|1231	.|ENSP00000384670:K1231N	.|ENSP00000384670:K1231N	A|K	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105528|118105528	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.729000|-0.729000	0.04920|0.04920	-0.638000|-0.638000	0.05509|0.05509	-0.192000|-0.192000	0.12808|0.12808	GCC|AAG		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	0	NM_020721		X:118221500
DCST2	127579	broad.mit.edu	37	1	154998864	154998864	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:154998864G>T	ENST00000368424.3	-	10	1583	c.1525C>A	c.(1525-1527)Cta>Ata	p.L509I	DCST2_ENST00000295536.5_Missense_Mutation_p.L509I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	509						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGAAGCATAGGCCATACATG	0.637																																						ENST00000368424.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(1525-1527)Cta>Ata		DC-STAMP domain containing 2							55.0	54.0	54.0					1																	154998864		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154998864G>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1525C>A	1.37:g.154998864G>T	ENSP00000357409:p.Leu509Ile	False	False		Somatic	0				DCST2_ENST00000295536.5_Missense_Mutation_p.L509I	p.L509I	NM_144622.2	NP_653223.2	WXS	Illumina HiSeq	Phase_I	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1583	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		509					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1525C>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477203	0.44044	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.34667	1.35;1.35	4.75	4.75	0.60458	Dendritic cell-specific transmembrane protein-like (1);	0.218950	0.30392	N	0.009722	T	0.25082	0.0609	M	0.78637	2.42	0.28184	N	0.92805	P	0.47604	0.898	B	0.42138	0.377	T	0.12993	-1.0526	10	0.36615	T	0.2	-8.1492	10.3498	0.43927	0.0:0.0:0.8042:0.1958	.	509	Q5T1A1	DCST2_HUMAN	I	509	ENSP00000357409:L509I;ENSP00000295536:L509I	ENSP00000295536:L509I	L	-	1	2	DCST2	153265488	0.483000	0.25956	0.991000	0.47740	0.961000	0.63080	0.167000	0.16602	2.466000	0.83321	0.655000	0.94253	CTA		0.637	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	0	NM_144622		1:154998864
PCDHB15	56121	broad.mit.edu	37	5	140626038	140626038	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140626038T>A	ENST00000231173.3	+	1	892	c.892T>A	c.(892-894)Tca>Aca	p.S298T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCAGCCTTTCAGGAGAAAT	0.403																																						ENST00000231173.3		NA																	0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(892-894)Tca>Aca									64.0	68.0	67.0					5																	140626038		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626038T>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.892T>A	5.37:g.140626038T>A	ENSP00000231173:p.Ser298Thr	True	False		Somatic	0					p.S298T	NM_018935.2	NP_061758.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	892	+			298			Cadherin 3.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.892T>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.283625	0.00251	.	.	ENSG00000113248	ENST00000231173	T	0.44482	0.92	5.07	2.17	0.27698	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13927	0.0337	N	0.02357	-0.585	0.09310	N	1	B	0.12630	0.006	B	0.21546	0.035	T	0.36187	-0.9758	9	0.02654	T	1	.	4.5546	0.12130	0.4747:0.0948:0.0:0.4306	.	298	Q9Y5E8	PCDBF_HUMAN	T	298	ENSP00000231173:S298T	ENSP00000231173:S298T	S	+	1	0	PCDHB15	140606222	0.004000	0.15560	0.091000	0.20842	0.376000	0.30014	1.902000	0.39848	0.853000	0.35312	-0.669000	0.03829	TCA		0.403	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	0	NM_018935		5:140626038
C1QB	713	broad.mit.edu	37	1	22986137	22986137	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:22986137G>A	ENST00000314933.6	+	2	319		c.e2+1		C1QB_ENST00000509305.1_Splice_Site	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGAGAAAGGTACCATGGGA	0.577																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.e2+1		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						24.0	26.0	26.0					1																	22986137		2203	4299	6502	SO:0001630	splice_region_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22986137G>A	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.187+1G>A	1.37:g.22986137G>A		False	False		Somatic	0				C1QB_ENST00000314933.6_Splice_Site				WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	527	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	NA					Q5T959|Q96H17	Splice_Site	SNP	ENST00000314933.6	37		CCDS228.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336484	0.60963	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6031	0.62031	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1QB	22858724	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.184000	0.72008	2.350000	0.79820	0.549000	0.68633	.		0.577	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491	Intron	1:22986137
SHROOM4	57477	broad.mit.edu	37	X	50378166	50378166	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50378166C>G	ENST00000289292.7	-	4	1190	c.907G>C	c.(907-909)Gtc>Ctc	p.V303L	SHROOM4_ENST00000376020.2_Missense_Mutation_p.V303L|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V187L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	303					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGCAAGGGGACCACAGGCTCA	0.587																																						ENST00000376020.2		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(907-909)Gtc>Ctc		shroom family member 4							32.0	21.0	25.0					X																	50378166		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50378166C>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.907G>C	X.37:g.50378166C>G	ENSP00000289292:p.Val303Leu	False	False		Somatic	0				SHROOM4_ENST00000460112.3_Missense_Mutation_p.V187L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.V303L	p.V303L	NM_020717.3	NP_065768.2	WXS	Illumina HiSeq	Phase_I	Q9ULL8	SHRM4_HUMAN			4	932	-	Ovarian(276;0.236)		303					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.907G>C	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	1.010	-0.688151	0.03328	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.13538	2.99;2.99;2.58	5.95	5.1	0.69264	.	1.004360	0.08012	N	0.990475	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.32745	-0.9895	10	0.10636	T	0.68	.	13.1671	0.59577	0.0:0.9205:0.0:0.0795	.	303	Q9ULL8	SHRM4_HUMAN	L	303;303;187	ENSP00000289292:V303L;ENSP00000365188:V303L;ENSP00000421450:V187L	ENSP00000289292:V303L	V	-	1	0	SHROOM4	50394906	0.001000	0.12720	0.006000	0.13384	0.013000	0.08279	1.313000	0.33585	1.279000	0.44446	0.600000	0.82982	GTC		0.587	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	0	NM_020717		X:50378166
RNF128	79589	broad.mit.edu	37	X	105970227	105970227	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:105970227C>T	ENST00000255499.2	+	1	334	c.84C>T	c.(82-84)gcC>gcT	p.A28A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	28					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCCTGCTGGCCCTGAGTCCGC	0.711																																						ENST00000255499.2		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(82-84)gcC>gcT		ring finger protein 128, E3 ubiquitin protein ligase							12.0	11.0	11.0					X																	105970227		2191	4283	6474	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970227C>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.84C>T	X.37:g.105970227C>T		True	False		Somatic	0				RNF128_ENST00000324342.3_Intron	p.A28A	NM_194463.1	NP_919445.1	WXS	Illumina HiSeq	Phase_I	Q8TEB7	RN128_HUMAN			1	334	+			28					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.84C>T	CCDS14521.1																																																																																				0.711	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	0	NM_024539		X:105970227
XRN1	54464	broad.mit.edu	37	3	142094760	142094760	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:142094760A>C	ENST00000264951.4	-	25	2975	c.2858T>G	c.(2857-2859)gTg>gGg	p.V953G	XRN1_ENST00000392981.2_Missense_Mutation_p.V953G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	953					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTAAACCCACATTTGCTTT	0.403																																						ENST00000264951.4		NA																	0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(2857-2859)gTg>gGg		5'-3' exoribonuclease 1							90.0	84.0	86.0					3																	142094760		2203	4299	6502	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142094760A>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2858T>G	3.37:g.142094760A>C	ENSP00000264951:p.Val953Gly	True	False		Somatic	0				XRN1_ENST00000392981.2_Missense_Mutation_p.V953G	p.V953G	NM_019001.3	NP_061874.3	WXS	Illumina HiSeq	Phase_I	Q8IZH2	XRN1_HUMAN			25	2975	-			953					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2858T>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344152	0.82022	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.37752	1.18;1.18	5.78	5.78	0.91487	.	0.062617	0.64402	D	0.000006	T	0.58104	0.2099	M	0.70275	2.135	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.62649	0.905;0.806	T	0.62315	-0.6880	10	0.87932	D	0	-11.1021	16.0952	0.81114	1.0:0.0:0.0:0.0	.	953;953	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	G	953	ENSP00000264951:V953G;ENSP00000376707:V953G	ENSP00000264951:V953G	V	-	2	0	XRN1	143577450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.268000	0.95675	2.209000	0.71365	0.477000	0.44152	GTG		0.403	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	0	NM_019001		3:142094760
INTS9	55756	broad.mit.edu	37	8	28717081	28717081	+	Splice_Site	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28717081C>A	ENST00000521022.1	-	2	91		c.e2-1		INTS9_ENST00000416984.2_Splice_Site|INTS9_ENST00000521777.1_Splice_Site|INTS9_ENST00000397363.4_Intron	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9						snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		ACAGGCAATACTGAAAAAAAT	0.383																																						ENST00000416984.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.e2-1		integrator complex subunit 9							126.0	112.0	116.0					8																	28717081		2203	4300	6503	SO:0001630	splice_region_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28717081C>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.10-1G>T	8.37:g.28717081C>A		False	False		Somatic	0				INTS9_ENST00000521777.1_Splice_Site|INTS9_ENST00000397363.4_Intron|INTS9_ENST00000521022.1_Splice_Site		NM_001145159.2	NP_001138631.1	WXS	Illumina HiSeq	Phase_I	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	2	369	-		Ovarian(32;0.0439)	NA					B7Z560|B7Z6M5|O00224|Q8TB16	Splice_Site	SNP	ENST00000521022.1	37		CCDS34873.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162573	0.57368	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000523436	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5649	0.91113	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS9	28773000	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.720000	0.84759	2.456000	0.83038	0.655000	0.94253	.		0.383	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	0	NM_018250	Intron	8:28717081
THBS2	7058	broad.mit.edu	37	6	169639743	169639743	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:169639743G>A	ENST00000366787.3	-	8	1329	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	360	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATGGACTGGCGCAGGTTGCAG	0.512																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3		NA																	0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1078-1080)tgC>tgT		thrombospondin 2							84.0	62.0	69.0					6																	169639743		2201	4298	6499	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169639743G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1080C>T	6.37:g.169639743G>A		False	False		Somatic	0					p.C360C	NM_003247.2	NP_003238.2	WXS	Illumina HiSeq	Phase_I	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	8	1329	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	360			VWFC.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1080C>T	CCDS34574.1																																																																																				0.512	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	0	NM_003247		6:169639743
TEX10	54881	broad.mit.edu	37	9	103090198	103090198	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:103090198G>C	ENST00000374902.4	-	8	1848	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E	TEX10_ENST00000535814.1_Missense_Mutation_p.Q561E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	558						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGAGCAAGTTGCAATGGTAAG	0.398																																						ENST00000374902.4		NA																	0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1672-1674)Caa>Gaa		testis expressed 10							97.0	82.0	87.0					9																	103090198		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103090198G>C	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1672C>G	9.37:g.103090198G>C	ENSP00000364037:p.Gln558Glu	False	False		Somatic	0				TEX10_ENST00000535814.1_Missense_Mutation_p.Q561E	p.Q558E	NM_017746.3	NP_060216.2	WXS	Illumina HiSeq	Phase_I	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	8	1848	-		Acute lymphoblastic leukemia(62;0.0527)	558					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1672C>G	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593958	0.86953	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	L	0.34521	1.04	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.993	D;D;P	0.72982	0.97;0.979;0.708	T	0.63171	-0.6697	9	0.29301	T	0.29	-6.3079	19.0215	0.92917	0.0:0.0:1.0:0.0	.	561;426;558	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	E	561;558;426	.	ENSP00000364037:Q558E	Q	-	1	0	TEX10	102130019	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.932000	0.92897	2.494000	0.84150	0.655000	0.94253	CAA		0.398	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	0	NM_017746		9:103090198
