#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-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000515838.2_3'UTR|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_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del	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
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	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
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	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
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	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
CROCC	9696	broad.mit.edu	37	1	17266463	17266463	+	Silent	SNP	C	C	T	rs374771140		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:17266463C>T	ENST00000375541.5	+	13	1752	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAGCGAGAGCGAGCGGCGGG	0.692																																						ENST00000375541.5		NA																	0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1681-1683)agC>agT		ciliary rootlet coiled-coil, rootletin		C		1,4399		0,1,2199	41.0	40.0	40.0		1683	-9.8	0.1	1		40	1,8583		0,1,4291	no	coding-synonymous	CROCC	NM_014675.3		0,2,6490	TT,TC,CC		0.0116,0.0227,0.0154		561/2018	17266463	2,12982	2200	4292	6492	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266463C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1683C>T	1.37:g.17266463C>T		True	False		Somatic	0				CROCC_ENST00000467938.1_3'UTR	p.S561S	NM_014675.3	NP_055490.3	WXS	Illumina HiSeq	Phase_I	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1752	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	561						Silent	SNP	ENST00000375541.5	37	c.1683C>T	CCDS30616.1																																																																																				0.692	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	0	NM_014675		1:17266463
CROCC	9696	broad.mit.edu	37	1	17266471	17266471	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:17266471G>A	ENST00000375541.5	+	13	1760	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCGAGCGGCGGGCCCTAGAG	0.706																																						ENST00000375541.5		NA																	0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1690-1692)cGg>cAg		ciliary rootlet coiled-coil, rootletin							37.0	35.0	36.0					1																	17266471		2202	4293	6495	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266471G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1691G>A	1.37:g.17266471G>A	ENSP00000364691:p.Arg564Gln	True	False		Somatic	0				CROCC_ENST00000467938.1_3'UTR	p.R564Q	NM_014675.3	NP_055490.3	WXS	Illumina HiSeq	Phase_I	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1760	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	564						Missense_Mutation	SNP	ENST00000375541.5	37	c.1691G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845799	0.51164	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10960	2.82	4.89	4.89	0.63831	.	.	.	.	.	T	0.25195	0.0612	L	0.52126	1.63	0.50467	D	0.999872	D;D;D	0.89917	0.997;0.999;1.0	P;P;D	0.81914	0.786;0.905;0.995	T	0.01626	-1.1309	9	0.15499	T	0.54	.	16.3533	0.83225	0.0:0.0:1.0:0.0	.	427;427;564	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	Q	564;445	ENSP00000364691:R564Q	ENSP00000364691:R564Q	R	+	2	0	CROCC	17139058	0.368000	0.25031	0.853000	0.33588	0.524000	0.34500	3.069000	0.50026	2.651000	0.90000	0.561000	0.74099	CGG		0.706	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	0	NM_014675		1:17266471
SLC8A3	6547	broad.mit.edu	37	14	70633740	70633740	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:70633740C>T	ENST00000381269.2	-	2	2153	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	467	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCAATTATGCCCACGGAGAA	0.517																																						ENST00000381269.2		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1399-1401)gGc>gAc		solute carrier family 8 (sodium/calcium exchanger), member 3							166.0	166.0	166.0					14																	70633740		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633740C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1400G>A	14.37:g.70633740C>T	ENSP00000370669:p.Gly467Asp	True	False		Somatic	0				SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D	p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	WXS	Illumina HiSeq	Phase_I	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2153	-			467			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1400G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002330	0.35320	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.53	5.53	0.82687	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.35593	1.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.15492	-1.0435	10	0.25106	T	0.35	.	19.463	0.94927	0.0:1.0:0.0:0.0	.	467;467;467;467	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	D	467	ENSP00000349392:G467D;ENSP00000370669:G467D;ENSP00000350560:G467D;ENSP00000436688:G467D;ENSP00000433531:G467D	ENSP00000349392:G467D	G	-	2	0	SLC8A3	69703493	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	4.980000	0.63812	2.587000	0.87381	0.643000	0.83706	GGC		0.517	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1	0			14:70633740
CCDC172	374355	broad.mit.edu	37	10	118117425	118117425	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:118117425C>T	ENST00000333254.3	+	7	879	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	210																	CAGTGAAAAGCCTCAAAATGA	0.284																																						ENST00000333254.3		NA																	0					NA						c.(628-630)Cct>Tct		coiled-coil domain containing 172							47.0	49.0	48.0					10																	118117425		2198	4284	6482	SO:0001583	missense	374355							g.chr10:118117425C>T	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.628C>T	10.37:g.118117425C>T	ENSP00000329860:p.Pro210Ser	False	False		Somatic	0					p.P210S	NM_198515.2	NP_940917.1	WXS	Illumina HiSeq	Phase_I					7	879	+			NA						Missense_Mutation	SNP	ENST00000333254.3	37	c.628C>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035459	0.54896	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.80287	0.4595	M	0.74258	2.255	0.49798	D	0.999823	D	0.89917	1.0	D	0.77557	0.99	T	0.81872	-0.0733	9	0.87932	D	0	-16.2963	19.5748	0.95438	0.0:1.0:0.0:0.0	.	210	P0C7W6	CJ096_HUMAN	S	210	.	ENSP00000329860:P210S	P	+	1	0	C10orf96	118107415	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	5.059000	0.64306	2.622000	0.88805	0.557000	0.71058	CCT		0.284	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	0	NM_198515		10:118117425
SEMA4F	10505	broad.mit.edu	37	2	74902760	74902760	+	Splice_Site	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:74902760A>T	ENST00000357877.2	+	11	1630	c.1481A>T	c.(1480-1482)cAc>cTc	p.H494L	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Splice_Site_p.H339L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	494	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAATTGTACCACGTGAGTTGT	0.527																																						ENST00000357877.2		NA																	0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1480-1482)cAc>cTc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							97.0	86.0	90.0					2																	74902760		2203	4300	6503	SO:0001630	splice_region_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74902760A>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1482+1A>T	2.37:g.74902760A>T		False	False		Somatic	0				SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Splice_Site_p.H339L	p.H494L	NM_004263.3	NP_004254.2	WXS	Illumina HiSeq	Phase_I	O95754	SEM4F_HUMAN			11	1630	+			494			Sema.		Q542Y7|Q9NS35	Splice_Site	SNP	ENST00000357877.2	37	c.1481A>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364109	0.24684	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.27890	1.64;1.64	4.5	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.533387	0.17354	N	0.177292	T	0.27866	0.0686	L	0.42245	1.32	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.08806	-1.0704	10	0.72032	D	0.01	.	11.8227	0.52247	1.0:0.0:0.0:0.0	.	339;494	O95754-2;O95754	.;SEM4F_HUMAN	L	494;339	ENSP00000350547:H494L;ENSP00000342675:H339L	ENSP00000342675:H339L	H	+	2	0	SEMA4F	74756268	0.008000	0.16893	0.607000	0.28956	0.563000	0.35712	1.556000	0.36288	1.892000	0.54788	0.383000	0.25322	CAC		0.527	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	0	NM_004263	Missense_Mutation	2:74902760
GUCY2C	2984	broad.mit.edu	37	12	14772183	14772183	+	Missense_Mutation	SNP	G	G	A	rs370411745		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:14772183G>A	ENST00000261170.3	-	24	2973	c.2837C>T	c.(2836-2838)aCg>aTg	p.T946M	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	946	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGTGTTGACCGTATCTCCAAA	0.488																																						ENST00000261170.3		NA																	0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2836-2838)aCg>aTg		guanylate cyclase 2C (heat stable enterotoxin receptor)		G	MET/THR	0,4406		0,0,2203	128.0	118.0	122.0		2837	5.3	0.8	12		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	GUCY2C	NM_004963.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	946/1074	14772183	1,13005	2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14772183G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2837C>T	12.37:g.14772183G>A	ENSP00000261170:p.Thr946Met	False	False		Somatic	0				RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	p.T946M	NM_004963.3	NP_004954.2	WXS	Illumina HiSeq	Phase_I	P25092	GUC2C_HUMAN			24	2973	-			946			Guanylate cyclase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2837C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573737	0.86542	0.0	1.16E-4	ENSG00000070019	ENST00000261170	D	0.84442	-1.85	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96262	0.8781	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98376	1.0556	10	0.87932	D	0	.	18.9452	0.92620	0.0:0.0:1.0:0.0	.	946	P25092	GUC2C_HUMAN	M	946	ENSP00000261170:T946M	ENSP00000261170:T946M	T	-	2	0	GUCY2C	14663450	1.000000	0.71417	0.781000	0.31783	0.814000	0.46013	9.784000	0.99039	2.466000	0.83321	0.655000	0.94253	ACG		0.488	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	0			12:14772183
ZNF645	158506	broad.mit.edu	37	X	22291423	22291423	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:22291423G>A	ENST00000323684.1	+	1	359	c.315G>A	c.(313-315)gcG>gcA	p.A105A		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	105	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GAATTGAGGCGCATAAACGAG	0.428																																						ENST00000323684.1		NA																	0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(313-315)gcG>gcA		zinc finger protein 645							83.0	69.0	74.0					X																	22291423		2202	4300	6502	SO:0001819	synonymous_variant	158506					intracellular	zinc ion binding	g.chrX:22291423G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.315G>A	X.37:g.22291423G>A		False	False		Somatic	0					p.A105A	NM_152577.3	NP_689790.1	WXS	Illumina HiSeq	Phase_I	Q8N7E2	ZN645_HUMAN			1	359	+			105					A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	c.315G>A	CCDS14205.1																																																																																				0.428	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	0	NM_152577		X:22291423
RBFOX1	54715	broad.mit.edu	37	16	7714957	7714957	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:7714957G>C	ENST00000550418.1	+	13	1905	c.917G>C	c.(916-918)gGt>gCt	p.G306A	RBFOX1_ENST00000422070.4_Missense_Mutation_p.G349A|RBFOX1_ENST00000340209.4_Missense_Mutation_p.G311A|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G323A|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G349A|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G306A|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G279A|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G263A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	306					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGATTTTATGGTGCAGACATT	0.438																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4		NA																	0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(931-933)gGt>gCt		RNA binding protein, fox-1 homolog (C. elegans) 1							374.0	355.0	361.0					16																	7714957		1963	4168	6131	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7714957G>C	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.917G>C	16.37:g.7714957G>C	ENSP00000450031:p.Gly306Ala	False	False		Somatic	0				RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G349A|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G306A|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G349A|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G323A|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G306A|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G263A|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G279A	p.G311A			WXS	Illumina HiSeq	Phase_I	Q9NWB1	RFOX1_HUMAN			10	1229	+			306					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.932G>C	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508204	0.85282	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000340209	T;T;T;T;T;T	0.54071	0.6;1.36;0.81;1.09;0.6;0.59	5.75	5.75	0.90469	.	.	.	.	.	T	0.71213	0.3313	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.996	D;D;D;D	0.80764	0.994;0.974;0.956;0.974	T	0.64449	-0.6405	9	0.23891	T	0.37	.	19.9889	0.97359	0.0:0.0:1.0:0.0	.	263;349;279;306	F5H0M1;B7Z1U7;Q9NWB1-3;Q9NWB1	.;.;.;RFOX1_HUMAN	A	306;279;349;349;263;323;306;311	ENSP00000450031:G306A;ENSP00000447753:G279A;ENSP00000446842:G349A;ENSP00000391269:G349A;ENSP00000447717:G306A;ENSP00000344196:G311A	ENSP00000344196:G311A	G	+	2	0	RBFOX1	7654958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.598000	0.90852	2.727000	0.93392	0.650000	0.86243	GGT		0.438	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	0	NM_145891		16:7714957
ZNF554	115196	broad.mit.edu	37	19	2834450	2834450	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:2834450A>G	ENST00000317243.5	+	5	1415	c.1217A>G	c.(1216-1218)aAg>aGg	p.K406R		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGGGGAAAAGCCCTATAAA	0.522																																						ENST00000317243.5		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1216-1218)aAg>aGg		zinc finger protein 554							44.0	49.0	47.0					19																	2834450		2184	4297	6481	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834450A>G	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1217A>G	19.37:g.2834450A>G	ENSP00000321132:p.Lys406Arg	True	False		Somatic	0					p.K406R	NM_001102651.1	NP_001096121.1	WXS	Illumina HiSeq	Phase_I	Q86TJ5	ZN554_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)	5	1415	+		Hepatocellular(1079;0.137)	406					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1217A>G	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236253	0.58886	.	.	ENSG00000172006	ENST00000317243	T	0.24908	1.83	2.76	2.76	0.32466	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37376	0.1001	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10109	-1.0644	9	0.54805	T	0.06	.	8.9895	0.36014	1.0:0.0:0.0:0.0	.	406	Q86TJ5	ZN554_HUMAN	R	406	ENSP00000321132:K406R	ENSP00000321132:K406R	K	+	2	0	ZNF554	2785450	0.475000	0.25894	0.998000	0.56505	0.649000	0.38597	0.045000	0.14013	1.280000	0.44463	0.467000	0.42956	AAG		0.522	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	0	NM_152303		19:2834450
MUC16	94025	broad.mit.edu	37	19	9005718	9005718	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:9005718C>T	ENST00000397910.4	-	46	39891	c.39688G>A	c.(39688-39690)Gga>Aga	p.G13230R	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13232	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGCTACTCCATCCTTCTCA	0.562																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39688-39690)Gga>Aga		mucin 16, cell surface associated							62.0	59.0	60.0					19																	9005718		2036	4177	6213	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9005718C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39688G>A	19.37:g.9005718C>T	ENSP00000381008:p.Gly13230Arg	False	False		Somatic	0					p.G13230R	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			46	39891	-			13232			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39688G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.57|11.57	1.678764|1.678764	0.29783|0.29783	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000441155|ENST00000542240	T|.	0.46451|.	0.87|.	3.51|3.51	2.45|2.45	0.29901|0.29901	SEA (1);|.	0.000000|.	0.31472|.	U|.	0.007590|.	T|T	0.55940|0.55940	0.1952|0.1952	M|M	0.68593|0.68593	2.085|2.085	.|.	.|.	.|.	D;D|.	0.76494|.	0.971;0.999|.	P;D|.	0.83275|.	0.625;0.996|.	T|T	0.63148|0.63148	-0.6702|-0.6702	9|4	0.87932|.	D|.	0|.	-11.7182|-11.7182	7.3243|7.3243	0.26547|0.26547	0.0:0.8661:0.0:0.1339|0.0:0.8661:0.0:0.1339	.|.	20875;13230|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|I	13230;361|69	ENSP00000381008:G13230R|.	ENSP00000381008:G13230R|.	G|M	-|-	1|3	0|0	MUC16|MUC16	8866718|8866718	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.002000|0.002000	0.02628|0.02628	0.611000|0.611000	0.24268|0.24268	0.742000|0.742000	0.32697|0.32697	0.455000|0.455000	0.32223|0.32223	GGA|ATG		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9005718
PCDHGA10	56106	broad.mit.edu	37	5	140793016	140793016	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:140793016G>A	ENST00000398610.2	+	1	274	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	92	Cadherin 1. {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)			GATCACCGCGGGCAGGATAGA	0.602																																						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.(274-276)Ggc>Agc									60.0	76.0	71.0					5																	140793016		2144	4281	6425	SO:0001583	missense	0							g.chr5:140793016G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.274G>A	5.37:g.140793016G>A	ENSP00000381611:p.Gly92Ser	True	False		Somatic	0				PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	p.G92S	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	274	+			NA					Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.274G>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	17.15	3.315265	0.60524	.	.	ENSG00000253846	ENST00000398610	T	0.26660	1.72	5.89	5.89	0.94794	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30230	0.0758	L	0.49350	1.555	0.37881	D	0.930382	B;B	0.26876	0.162;0.056	B;B	0.30401	0.115;0.082	T	0.07520	-1.0768	9	0.27785	T	0.31	.	19.8631	0.96790	0.0:0.0:1.0:0.0	.	92;92	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	S	92	ENSP00000381611:G92S	ENSP00000381611:G92S	G	+	1	0	PCDHGA10	140773200	0.991000	0.36638	1.000000	0.80357	0.836000	0.47400	4.921000	0.63397	2.788000	0.95919	0.557000	0.71058	GGC		0.602	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	0	NM_018913		5:140793016
ATP2A2	488	broad.mit.edu	37	12	110778544	110778544	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:110778544G>A	ENST00000539276.2	+	14	1951	c.1842G>A	c.(1840-1842)cgG>cgA	p.R614R	ATP2A2_ENST00000395494.2_Silent_p.R587R|ATP2A2_ENST00000308664.6_Silent_p.R614R			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	614					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGCTGTGCCGGCAAGCAGGCA	0.577																																						ENST00000395494.2		NA																	0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1759-1761)cgG>cgA		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							95.0	93.0	94.0					12																	110778544		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110778544G>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1842G>A	12.37:g.110778544G>A		False	False		Somatic	0				ATP2A2_ENST00000539276.2_Silent_p.R614R|ATP2A2_ENST00000308664.6_Silent_p.R614R	p.R587R			WXS	Illumina HiSeq	Phase_I	P16615	AT2A2_HUMAN			13	2324	+			614			Interacts with HAX1.		A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.1761G>A	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	9.919	1.211730	0.22289	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	-1.46	0.08800	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38415	-0.9662	4	.	.	.	.	6.5171	0.22254	0.3725:0.3045:0.323:0.0	.	.	.	.	T	505	.	.	A	+	1	0	ATP2A2	109262927	0.478000	0.25917	0.955000	0.39395	0.960000	0.62799	-0.155000	0.10115	-0.590000	0.05866	-0.889000	0.02933	GCA		0.577	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	0	NM_001681		12:110778544
SPDYC	387778	broad.mit.edu	37	11	64940200	64940200	+	Missense_Mutation	SNP	C	C	T	rs201126841		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:64940200C>T	ENST00000377185.2	+	6	644	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TCGGGACCGGCGCCCCCACCA	0.657																																						ENST00000377185.2		NA																	0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(562-564)Cgc>Tgc		speedy/RINGO cell cycle regulator family member C							40.0	43.0	42.0					11																	64940200		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940200C>T	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.562C>T	11.37:g.64940200C>T	ENSP00000366390:p.Arg188Cys	False	False		Somatic	0					p.R188C	NM_001008778.1	NP_001008778.1	WXS	Illumina HiSeq	Phase_I	Q5MJ68	SPDYC_HUMAN			6	644	+			188			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.562C>T	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811405	0.50527	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.26	-2.55	0.06288	.	0.698349	0.11252	N	0.583506	T	0.24470	0.0593	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.12502	-1.0545	9	0.44086	T	0.13	.	5.5899	0.17295	0.1263:0.4212:0.0:0.4525	.	188	Q5MJ68	SPDYC_HUMAN	C	188	.	ENSP00000366390:R188C	R	+	1	0	SPDYC	64696776	0.000000	0.05858	0.000000	0.03702	0.973000	0.67179	-0.010000	0.12743	-0.920000	0.03799	-0.136000	0.14681	CGC		0.657	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	0	NM_001008778		11:64940200
HERC2P2	400322	broad.mit.edu	37	15	23316050	23316050	+	RNA	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr15:23316050G>A	ENST00000560464.1	-	0	2889									hect domain and RLD 2 pseudogene 2																		GCAGCAGTCCGCATAAAGTCT	0.512																																						ENST00000560464.1		NA																	0					NA																																														0							g.chr15:23316050G>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23316050G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	2889	-			NA						RNA	SNP	ENST00000560464.1	37																																																																																						0.512	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1	0			15:23316050
FANCA	2175	broad.mit.edu	37	16	89858476	89858476	+	Splice_Site	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:89858476G>T	ENST00000389301.3	-	13	1114	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I	FANCA_ENST00000568369.1_Splice_Site_p.L362I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	362					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ATCACAAAGAGCTGAAATAAA	0.542			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3		NA	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(1084-1086)Ctc>Atc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							99.0	95.0	96.0					16																	89858476		2198	4300	6498	SO:0001630	splice_region_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89858476G>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1084-1C>A	16.37:g.89858476G>T		False	False		Somatic	0				FANCA_ENST00000568369.1_Splice_Site_p.L362I	p.L362I	NM_000135.2	NP_000126.2	WXS	Illumina HiSeq	Phase_I	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	13	1114	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	362					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Splice_Site	SNP	ENST00000389301.3	37	c.1084C>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808175	0.50421	.	.	ENSG00000187741	ENST00000389301	T	0.67523	-0.27	5.64	3.65	0.41850	.	0.456880	0.18430	N	0.141443	T	0.60958	0.2309	M	0.71581	2.175	0.80722	D	1	P;P	0.38788	0.647;0.639	B;B	0.30943	0.091;0.122	T	0.60347	-0.7281	10	0.44086	T	0.13	-13.4105	11.8401	0.52348	0.0:0.1373:0.7281:0.1346	.	362;362	B4DRI7;O15360	.;FANCA_HUMAN	I	362	ENSP00000373952:L362I	ENSP00000373952:L362I	L	-	1	0	FANCA	88385977	1.000000	0.71417	0.996000	0.52242	0.308000	0.27856	3.211000	0.51137	0.725000	0.32318	-0.139000	0.14373	CTC		0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	0		Missense_Mutation	16:89858476
ZNF614	80110	broad.mit.edu	37	19	52520103	52520103	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:52520103G>A	ENST00000270649.6	-	5	1292	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	250				L -> P (in Ref. 1; BAC04966). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTAGTTTTCAGATGCTTAGTG	0.368																																						ENST00000270649.6		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(748-750)Ctg>Ttg		zinc finger protein 614							73.0	70.0	71.0					19																	52520103		2203	4300	6503	SO:0001819	synonymous_variant	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52520103G>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.748C>T	19.37:g.52520103G>A		False	False		Somatic	0				ZNF614_ENST00000356322.6_Intron	p.L250L	NM_025040.3	NP_079316.2	WXS	Illumina HiSeq	Phase_I	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1292	-		all_neural(266;0.0505)	250	L -> P (in Ref. 1; BAC04966).				Q494T8|Q8TCF4|Q9BSN8	Silent	SNP	ENST00000270649.6	37	c.748C>T	CCDS12847.1																																																																																				0.368	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	0	NM_025040		19:52520103
UAP1L1	91373	broad.mit.edu	37	9	139974535	139974535	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:139974535G>A	ENST00000409858.3	+	6	1151	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	UAP1L1_ENST00000360271.3_Silent_p.P250P	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	373			P -> S (in dbSNP:rs1122444).				uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGGTAAAGCCGCTAAAACCGA	0.488																																						ENST00000409858.3		NA																	0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1117-1119)ccG>ccA		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							248.0	219.0	229.0					9																	139974535		2202	4300	6502	SO:0001819	synonymous_variant	91373						nucleotidyltransferase activity	g.chr9:139974535G>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1119G>A	9.37:g.139974535G>A		False	False		Somatic	0				UAP1L1_ENST00000360271.3_Silent_p.P250P	p.P373P	NM_207309.2	NP_997192.2	WXS	Illumina HiSeq	Phase_I	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	6	1151	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	373		P -> S (in dbSNP:rs1122444).			A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP	ENST00000409858.3	37	c.1119G>A	CCDS7028.2																																																																																				0.488	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	0	XM_038063		9:139974535
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(469-471)Gtc>Ttc	Other conserved DNA damage response genes	tumor protein p53							50.0	52.0	51.0					17																	7578461		2202	4300	6502	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	601	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578461
KCNT1	57582	broad.mit.edu	37	9	138651632	138651632	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:138651632C>T	ENST00000263604.3	+	11	905	c.905C>T	c.(904-906)aCg>aTg	p.T302M	KCNT1_ENST00000371757.2_Missense_Mutation_p.T321M|KCNT1_ENST00000488444.2_Missense_Mutation_p.T302M|KCNT1_ENST00000486577.2_Missense_Mutation_p.T282M|KCNT1_ENST00000490355.2_Missense_Mutation_p.T302M|KCNT1_ENST00000298480.5_Missense_Mutation_p.T321M|KCNT1_ENST00000491806.2_Missense_Mutation_p.T288M|KCNT1_ENST00000487664.1_Missense_Mutation_p.T276M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	302					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGTGACGTCACGCCCAAGATC	0.647																																						ENST00000298480.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(961-963)aCg>aTg		potassium channel, subfamily T, member 1							139.0	100.0	113.0					9																	138651632		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138651632C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.905C>T	9.37:g.138651632C>T	ENSP00000263604:p.Thr302Met	False	False		Somatic	0				KCNT1_ENST00000491806.2_Missense_Mutation_p.T288M|KCNT1_ENST00000371757.2_Missense_Mutation_p.T321M|KCNT1_ENST00000486577.2_Missense_Mutation_p.T282M|KCNT1_ENST00000263604.3_Missense_Mutation_p.T302M|KCNT1_ENST00000487664.1_Missense_Mutation_p.T276M|KCNT1_ENST00000490355.2_Missense_Mutation_p.T302M|KCNT1_ENST00000488444.2_Missense_Mutation_p.T302M	p.T321M			WXS	Illumina HiSeq	Phase_I	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	11	1036	+		Myeloproliferative disorder(178;0.0821)	321					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.962C>T		.	.	.	.	.	.	.	.	.	.	C	23.4	4.407869	0.83340	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;D;T	0.97598	1.69;1.69;1.69;-4.45;1.69	5.05	5.05	0.67936	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.98645	0.9546	M	0.89658	3.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75020	0.985;0.978;0.963;0.978	D	0.99387	1.0924	10	0.54805	T	0.06	-17.2905	17.3952	0.87443	0.0:1.0:0.0:0.0	.	288;321;276;302	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	276;321;321;268;282;288;302;302;302	ENSP00000417851:T276M;ENSP00000298480:T321M;ENSP00000360822:T321M;ENSP00000420764:T268M;ENSP00000263604:T302M	ENSP00000263604:T302M	T	+	2	0	KCNT1	137791453	1.000000	0.71417	0.322000	0.25334	0.907000	0.53573	5.820000	0.69250	2.354000	0.79902	0.591000	0.81541	ACG		0.647	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_020822		9:138651632
SMG1	23049	broad.mit.edu	37	16	18896965	18896965	+	Silent	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:18896965A>T	ENST00000446231.2	-	7	1258	c.846T>A	c.(844-846)tcT>tcA	p.S282S	SMG1_ENST00000565224.1_Silent_p.S256S|SMG1_ENST00000389467.3_Silent_p.S282S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	282	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTCAAGAATAGACTGCAGGC	0.333																																						ENST00000446231.2		NA																	0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(844-846)tcT>tcA		SMG1 phosphatidylinositol 3-kinase-related kinase							94.0	99.0	98.0					16																	18896965		985	2082	3067	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18896965A>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.846T>A	16.37:g.18896965A>T		False	False		Somatic	0				SMG1_ENST00000565224.1_Silent_p.S256S|SMG1_ENST00000389467.3_Silent_p.S282S	p.S282S			WXS	Illumina HiSeq	Phase_I	Q96Q15	SMG1_HUMAN			7	1258	-			282			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.846T>A	CCDS45430.1																																																																																				0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	0	NM_015092		16:18896965
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_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_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_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
ERICH6	131831	broad.mit.edu	37	3	150421561	150421561	+	Missense_Mutation	SNP	T	T	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:150421561T>A	ENST00000295910.6	-	1	177	c.125A>T	c.(124-126)gAg>gTg	p.E42V	RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctcctcctcctccacctcttc	0.617																																						ENST00000295910.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(124-126)gAg>gTg		family with sequence similarity 194, member A							104.0	86.0	92.0					3																	150421561		2203	4299	6502	SO:0001583	missense	131831							g.chr3:150421561T>A																												ENST00000295910.6:c.125A>T	3.37:g.150421561T>A	ENSP00000295910:p.Glu42Val	True	False		Somatic	0				FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	p.E42V	NM_152394.3	NP_689607.2	WXS	Illumina HiSeq	Phase_I	Q7L0X2	F194A_HUMAN			1	177	-			42			Glu-rich.			Missense_Mutation	SNP	ENST00000295910.6	37	c.125A>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110446	0.20714	.	.	ENSG00000163645	ENST00000295910;ENST00000474463	T;T	0.59638	2.52;0.25	3.07	0.4	0.16331	.	1.005970	0.08015	N	0.991085	T	0.35711	0.0941	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.27872	-1.0061	10	0.72032	D	0.01	.	7.2044	0.25899	0.3903:0.0:0.0:0.6097	.	42	Q7L0X2	F194A_HUMAN	V	42	ENSP00000295910:E42V;ENSP00000419304:E42V	ENSP00000295910:E42V	E	-	2	0	FAM194A	151904251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.537000	0.00939	-0.189000	0.10482	-1.827000	0.00596	GAG		0.617	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1	0			3:150421561
TRMT5	57570	broad.mit.edu	37	14	61442343	61442343	+	Missense_Mutation	SNP	G	G	A	rs150018663		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:61442343G>A	ENST00000261249.6	-	4	1678	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GCCCTTTGCCGAACATCCTCA	0.483																																						ENST00000261249.6		NA																	0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(1294-1296)Cgg>Tgg		tRNA methyltransferase 5		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	98.0	100.0		1294	5.7	0.5	14	dbSNP_134	100	0,8600		0,0,4300	no	missense	TRMT5	NM_020810.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	432/510	61442343	1,13005	2203	4300	6503	SO:0001583	missense	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61442343G>A	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1294C>T	14.37:g.61442343G>A	ENSP00000261249:p.Arg432Trp	False	False		Somatic	0				RP11-193F5.1_ENST00000553946.1_RNA	p.R432W	NM_020810.2	NP_065861.2	WXS	Illumina HiSeq	Phase_I	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	4	1678	-			432						Missense_Mutation	SNP	ENST00000261249.6	37	c.1294C>T	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380451	0.61845	2.27E-4	0.0	ENSG00000126814	ENST00000261249	T	0.23147	1.92	5.65	5.65	0.86999	.	0.634972	0.16877	N	0.195848	T	0.30166	0.0756	L	0.55213	1.73	0.40156	D	0.977004	D	0.56746	0.977	P	0.44860	0.462	T	0.02115	-1.1211	10	0.37606	T	0.19	-0.0093	14.7174	0.69280	0.0:0.0:0.8554:0.1446	.	432	Q32P41	TRM5_HUMAN	W	432	ENSP00000261249:R432W	ENSP00000261249:R432W	R	-	1	2	TRMT5	60512096	0.903000	0.30736	0.533000	0.28001	0.504000	0.33889	2.771000	0.47670	2.941000	0.99782	0.655000	0.94253	CGG		0.483	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	0	NM_02081		14:61442343
RYR2	6262	broad.mit.edu	37	1	237969517	237969517	+	Silent	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:237969517C>T	ENST00000366574.2	+	99	14549	c.14232C>T	c.(14230-14232)ctC>ctT	p.L4744L	RYR2_ENST00000542537.1_Silent_p.L4728L|RYR2_ENST00000360064.6_Silent_p.L4750L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4744					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCACCTTCTCGACATTGCTA	0.408																																						ENST00000366574.2		NA																	0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14230-14232)ctC>ctT		ryanodine receptor 2 (cardiac)							200.0	179.0	186.0					1																	237969517		1894	4112	6006	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237969517C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14232C>T	1.37:g.237969517C>T		False	False		Somatic	0				RYR2_ENST00000360064.6_Silent_p.L4750L|RYR2_ENST00000542537.1_Silent_p.L4728L	p.L4744L	NM_001035.2	NP_001026.2	WXS	Illumina HiSeq	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14549	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4744					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.14232C>T	CCDS55691.1																																																																																				0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	NM_001035		1:237969517
RPL26L1	51121	broad.mit.edu	37	5	172386920	172386920	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:172386920G>T	ENST00000521476.1	+	2	168	c.44G>T	c.(43-45)cGc>cTc	p.R15L	RPL26L1_ENST00000519974.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R15L|CTC-308K20.2_ENST00000519755.1_lincRNA|CTC-308K20.1_ENST00000518894.1_RNA|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R15L|CTC-308K20.1_ENST00000520067.1_RNA|CTC-308K20.1_ENST00000518818.1_RNA			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTAAAAACCGCAAACGTCAC	0.562																																						ENST00000521476.1		NA																	0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(43-45)cGc>cTc		ribosomal protein L26-like 1							221.0	190.0	200.0					5																	172386920		2203	4300	6503	SO:0001583	missense	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172386920G>T	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.44G>T	5.37:g.172386920G>T	ENSP00000428223:p.Arg15Leu	False	False		Somatic	0				RPL26L1_ENST00000519974.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R15L|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R15L	p.R15L			WXS	Illumina HiSeq	Phase_I	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	168	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	15					B3KY82|D3DQM0	Missense_Mutation	SNP	ENST00000521476.1	37	c.44G>T	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634145	0.96682	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519522;ENST00000519156	.	.	.	4.75	3.85	0.44370	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.84106	0.5399	H	0.94462	3.54	0.80722	D	1	P	0.48694	0.914	P	0.58721	0.844	D	0.88380	0.3001	9	0.87932	D	0	.	13.8993	0.63792	0.0:0.0:0.8418:0.1582	.	15	Q9UNX3	RL26L_HUMAN	L	15	.	ENSP00000265100:R15L	R	+	2	0	RPL26L1	172319526	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.313000	0.78978	1.168000	0.42723	0.549000	0.68633	CGC		0.562	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	0	NM_016093		5:172386920
CDC42EP4	23580	broad.mit.edu	37	17	71281656	71281656	+	Silent	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:71281656C>A	ENST00000335793.3	-	2	1378	c.984G>T	c.(982-984)ccG>ccT	p.P328P	CDC42EP4_ENST00000439510.2_Silent_p.P258P|CDC42EP4_ENST00000581014.1_Nonsense_Mutation_p.G61*			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	328					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GGGCCCTGTCCGGCCCCCGGA	0.652																																						ENST00000581014.1		NA																	0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(181-183)Gga>Tga		CDC42 effector protein (Rho GTPase binding) 4							46.0	55.0	52.0					17																	71281656		2203	4300	6503	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281656C>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.984G>T	17.37:g.71281656C>A		False	False		Somatic	0				CDC42EP4_ENST00000439510.2_Silent_p.P258P|CDC42EP4_ENST00000335793.3_Silent_p.P328P	p.G61*			WXS	Illumina HiSeq	Phase_I	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		3	397	-			0					B3KUS7|O95828|Q96FT3	Nonsense_Mutation	SNP	ENST00000335793.3	37	c.181G>T	CCDS11695.1																																																																																				0.652	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	0	NM_012121		17:71281656
ITPR1	3708	broad.mit.edu	37	3	4744532	4744532	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:4744532G>T	ENST00000443694.2	+	33	4510	c.4510G>T	c.(4510-4512)Gtg>Ttg	p.V1504L	ITPR1_ENST00000357086.4_Missense_Mutation_p.V1510L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.V1504L|ITPR1_ENST00000423119.2_Missense_Mutation_p.V1510L|ITPR1_ENST00000354582.6_Missense_Mutation_p.V1519L|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1495L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1519					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCCTGTCTTTGTGCAACTGCT	0.473																																						ENST00000354582.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(4555-4557)Gtg>Ttg		inositol 1,4,5-trisphosphate receptor, type 1							63.0	65.0	64.0					3																	4744532		1988	4167	6155	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4744532G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4510G>T	3.37:g.4744532G>T	ENSP00000401671:p.Val1504Leu	True	False		Somatic	0				ITPR1_ENST00000443694.2_Missense_Mutation_p.V1504L|ITPR1_ENST00000423119.2_Missense_Mutation_p.V1510L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.V1504L|ITPR1_ENST00000357086.4_Missense_Mutation_p.V1510L|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1495L	p.V1519L			WXS	Illumina HiSeq	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	36	4905	+			1519					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.4555G>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429619	0.83776	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	M	0.85542	2.76	0.80722	D	1	B;P	0.35700	0.193;0.516	B;B	0.34652	0.126;0.187	T	0.75408	-0.3328	10	0.28530	T	0.3	.	18.3935	0.90491	0.0:0.0:1.0:0.0	.	1519;1510	Q14643;G5E9P1	ITPR1_HUMAN;.	L	1519;1504;1519;1510;1510;1495;1504	ENSP00000306253:V1504L;ENSP00000346595:V1519L;ENSP00000405934:V1510L;ENSP00000349597:V1510L;ENSP00000397885:V1495L;ENSP00000401671:V1504L	ENSP00000306253:V1504L	V	+	1	0	ITPR1	4719532	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.768000	0.98965	2.320000	0.78422	0.563000	0.77884	GTG		0.473	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	0	NM_002222		3:4744532
NCKAP1L	3071	broad.mit.edu	37	12	54925049	54925049	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:54925049C>T	ENST00000293373.6	+	23	2591	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCCAGAGATGCGGGCCTTGGC	0.468																																						ENST00000293373.6		NA																	0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2512-2514)Cgg>Tgg		NCK-associated protein 1-like							107.0	115.0	112.0					12																	54925049		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925049C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2512C>T	12.37:g.54925049C>T	ENSP00000293373:p.Arg838Trp	True	False		Somatic	0				NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788W	p.R838W	NM_005337.4	NP_005328.2	WXS	Illumina HiSeq	Phase_I	P55160	NCKPL_HUMAN			23	2591	+			838					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2512C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860810	0.71834	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.37915	1.17;1.17	4.95	4.03	0.46877	.	0.206001	0.36815	N	0.002381	T	0.54334	0.1852	M	0.72353	2.195	0.53688	D	0.99997	D	0.76494	0.999	D	0.66084	0.941	T	0.58317	-0.7657	10	0.87932	D	0	-15.1396	10.3653	0.44019	0.3572:0.6428:0.0:0.0	.	838	P55160	NCKPL_HUMAN	W	838;788	ENSP00000293373:R838W;ENSP00000445596:R788W	ENSP00000293373:R838W	R	+	1	2	NCKAP1L	53211316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.309000	0.43699	1.394000	0.46624	0.655000	0.94253	CGG		0.468	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	0	NM_005337		12:54925049
SMURF2	64750	broad.mit.edu	37	17	62558963	62558963	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:62558963G>A	ENST00000262435.9	-	11	1325	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	380					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGTTCTTGCCGCAAAATTTTT	0.448																																						ENST00000262435.9		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(1138-1140)Cgg>Tgg		SMAD specific E3 ubiquitin protein ligase 2							118.0	105.0	110.0					17																	62558963		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62558963G>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1138C>T	17.37:g.62558963G>A	ENSP00000262435:p.Arg380Trp	False	False		Somatic	0				SMURF2_ENST00000578200.1_Intron	p.R380W	NM_022739.3	NP_073576.1	WXS	Illumina HiSeq	Phase_I	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		11	1325	-	Breast(5;1.32e-14)		380					Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.1138C>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858041	0.32791	.	.	ENSG00000108854	ENST00000262435	T	0.44482	0.92	5.82	4.81	0.61882	HECT (1);	0.105160	0.64402	D	0.000007	T	0.69424	0.3109	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75351	-0.3348	10	0.87932	D	0	.	15.0272	0.71680	0.0:0.0:0.6852:0.3148	.	380	Q9HAU4	SMUF2_HUMAN	W	380	ENSP00000262435:R380W	ENSP00000262435:R380W	R	-	1	2	SMURF2	59989425	0.911000	0.30947	1.000000	0.80357	0.954000	0.61252	1.372000	0.34261	2.758000	0.94735	0.650000	0.86243	CGG		0.448	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	0	NM_022739		17:62558963
ZNF33B	7582	broad.mit.edu	37	10	43090109	43090109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:43090109C>A	ENST00000359467.3	-	5	403	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	97					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(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATTGATTTTCTTGGCTCCTC	0.333																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(289-291)Gaa>Taa		zinc finger protein 33B							79.0	80.0	80.0					10																	43090109		2203	4298	6501	SO:0001587	stop_gained	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43090109C>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.289G>T	10.37:g.43090109C>A	ENSP00000352444:p.Glu97*	True	False		Somatic	0				ZNF33B_ENST00000486187.1_RNA	p.E97*	NM_006955.1	NP_008886.1	WXS	Illumina HiSeq	Phase_I	Q06732	ZN33B_HUMAN			5	403	-			97					Q06731|Q32MA2|Q86XY8|Q8NDW3	Nonsense_Mutation	SNP	ENST00000359467.3	37	c.289G>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760951	0.89932	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.14	2.14	0.27477	.	0.000000	0.37219	N	0.002190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	10.4164	0.44325	0.0:1.0:0.0:0.0	.	.	.	.	X	97;63	.	ENSP00000352444:E97X	E	-	1	0	ZNF33B	42410115	0.000000	0.05858	0.708000	0.30435	0.654000	0.38779	0.237000	0.17985	1.526000	0.49068	0.416000	0.27883	GAA		0.333	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_006955		10:43090109
GPC5	2262	broad.mit.edu	37	13	92101122	92101122	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr13:92101122A>G	ENST00000377067.3	+	2	643	c.271A>G	c.(271-273)Acg>Gcg	p.T91A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	91					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTTTCTTCAAACGTCCAGCTC	0.438																																						ENST00000377067.3		NA																	0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(271-273)Acg>Gcg		glypican 5							134.0	123.0	127.0					13																	92101122		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92101122A>G	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.271A>G	13.37:g.92101122A>G	ENSP00000366267:p.Thr91Ala	True	False		Somatic	0					p.T91A	NM_004466.4	NP_004457.1	WXS	Illumina HiSeq	Phase_I	P78333	GPC5_HUMAN			2	643	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	91					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.271A>G	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	8.274	0.814030	0.16537	.	.	ENSG00000179399	ENST00000377067	T	0.47528	0.84	5.5	0.224	0.15297	.	0.228421	0.44483	N	0.000455	T	0.31389	0.0795	L	0.42245	1.32	0.30752	N	0.745058	B	0.28470	0.213	B	0.28139	0.086	T	0.18304	-1.0341	10	0.22109	T	0.4	.	4.9471	0.13994	0.663:0.0:0.2116:0.1254	.	91	P78333	GPC5_HUMAN	A	91	ENSP00000366267:T91A	ENSP00000366267:T91A	T	+	1	0	GPC5	90899123	0.881000	0.30235	0.790000	0.31976	0.231000	0.25187	0.600000	0.24104	-0.165000	0.10908	0.383000	0.25322	ACG		0.438	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	0	NM_004466		13:92101122
PHF2	5253	broad.mit.edu	37	9	96418827	96418827	+	Missense_Mutation	SNP	T	T	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:96418827T>A	ENST00000359246.4	+	9	1464	c.1097T>A	c.(1096-1098)tTt>tAt	p.F366Y	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	366					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TTTCCCAACTTTGAAACTGCG	0.547																																						ENST00000359246.4		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1096-1098)tTt>tAt		PHD finger protein 2							132.0	142.0	139.0					9																	96418827		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96418827T>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1097T>A	9.37:g.96418827T>A	ENSP00000352185:p.Phe366Tyr	True	False		Somatic	0				PHF2_ENST00000375376.4_Intron	p.F366Y	NM_005392.3	NP_005383.3	WXS	Illumina HiSeq	Phase_I	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	9	1464	+		Myeloproliferative disorder(762;0.0255)	366					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1097T>A	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036665	0.54896	.	.	ENSG00000197724	ENST00000359246	T	0.57107	0.42	4.47	4.47	0.54385	.	0.049864	0.85682	D	0.000000	T	0.42040	0.1185	L	0.37466	1.105	0.80722	D	1	B	0.21309	0.054	B	0.18263	0.021	T	0.41142	-0.9525	10	0.66056	D	0.02	-15.2641	10.4792	0.44682	0.145:0.0:0.0:0.855	.	366	O75151	PHF2_HUMAN	Y	366	ENSP00000352185:F366Y	ENSP00000352185:F366Y	F	+	2	0	PHF2	95458648	1.000000	0.71417	0.994000	0.49952	0.839000	0.47603	4.898000	0.63238	1.864000	0.54056	0.254000	0.18369	TTT		0.547	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	0	NM_005392		9:96418827
HERC2	8924	broad.mit.edu	37	15	28515989	28515989	+	Missense_Mutation	SNP	T	T	C	rs201724547		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr15:28515989T>C	ENST00000261609.7	-	10	1217	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAACTCTCATTGGGGCTCAG	0.448																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1108-1110)aAt>aGt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							43.0	38.0	40.0					15																	28515989		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28515989T>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1109A>G	15.37:g.28515989T>C	ENSP00000261609:p.Asn370Ser	False	False		Somatic	0					p.N370S	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	10	1217	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	370						Missense_Mutation	SNP	ENST00000261609.7	37	c.1109A>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748774	0.49257	.	.	ENSG00000128731	ENST00000261609	T	0.36699	1.24	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	N	0.19112	0.55	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.18903	-1.0322	10	0.15499	T	0.54	.	16.0326	0.80588	0.0:0.0:0.0:1.0	.	370	O95714	HERC2_HUMAN	S	370	ENSP00000261609:N370S	ENSP00000261609:N370S	N	-	2	0	HERC2	26189584	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.296000	0.72751	2.185000	0.69588	0.528000	0.53228	AAT		0.448	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28515989
OR52W1	120787	broad.mit.edu	37	11	6221254	6221254	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:6221254C>A	ENST00000311352.2	+	1	879	c.801C>A	c.(799-801)caC>caA	p.H267Q	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTCACACACCGCTTTGGTC	0.547																																						ENST00000311352.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11						c.(799-801)caC>caA		olfactory receptor, family 52, subfamily W, member 1							456.0	417.0	430.0					11																	6221254		2201	4296	6497	SO:0001583	missense	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6221254C>A	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.801C>A	11.37:g.6221254C>A	ENSP00000309673:p.His267Gln	True	False		Somatic	0					p.H267Q	NM_001005178.1	NP_001005178.1	WXS	Illumina HiSeq	Phase_I	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	879	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	267					Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	c.801C>A	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858617	0.17178	.	.	ENSG00000175485	ENST00000311352	T	0.00084	8.75	5.11	-5.48	0.02592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	N	0.001210	T	0.00073	0.0002	L	0.35249	1.045	0.21220	N	0.99975	B	0.29612	0.251	B	0.27076	0.076	T	0.47156	-0.9139	10	0.66056	D	0.02	.	5.0242	0.14376	0.0925:0.3018:0.0912:0.5146	.	267	Q6IF63	O52W1_HUMAN	Q	267	ENSP00000309673:H267Q	ENSP00000309673:H267Q	H	+	3	2	OR52W1	6177830	0.001000	0.12720	0.795000	0.32087	0.080000	0.17528	-0.139000	0.10358	-0.942000	0.03695	-1.012000	0.02466	CAC		0.547	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	0	NM_001005178		11:6221254
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7296183	7296183	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7296183G>A	ENST00000576362.1	-	5	681	c.524C>T	c.(523-525)gCc>gTc	p.A175V	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.A199V					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTGGCGATCGGCATCCTGGAT	0.587																																						ENST00000535512.1		NA																	0					NA						c.(595-597)gCc>gTc									214.0	236.0	229.0					17																	7296183		2089	4206	6295	SO:0001583	missense	0							g.chr17:7296183G>A			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.524C>T	17.37:g.7296183G>A	ENSP00000460800:p.Ala175Val	False	False		Somatic	0				C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000576362.1_Missense_Mutation_p.A175V	p.A199V			WXS	Illumina HiSeq	Phase_I					9	1613	-			199						Missense_Mutation	SNP	ENST00000576362.1	37	c.596C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.793830|4.793830	0.90453|0.90453	.|.	.|.	ENSG00000187838|ENSG00000187838	ENST00000535512;ENST00000324822|ENST00000380658	T;T|.	0.32023|.	1.47;1.47|.	5.69|5.69	4.72|4.72	0.59763|0.59763	.|.	0.193957|.	0.44285|.	N|.	0.000472|.	T|T	0.56688|0.56688	0.2002|0.2002	L|L	0.45422|0.45422	1.42|1.42	0.41806|0.41806	D|D	0.98994|0.98994	P;P|.	0.39094|.	0.659;0.476|.	B;B|.	0.42882|.	0.401;0.223|.	T|T	0.60403|0.60403	-0.7270|-0.7270	10|6	0.34782|0.87932	T|D	0.22|0	-8.8642|-8.8642	7.3178|7.3178	0.26511|0.26511	0.0852:0.0:0.7473:0.1674|0.0852:0.0:0.7473:0.1674	.|.	199;254|.	Q9NRY6;D3DTP7|.	PLS3_HUMAN;.|.	V|S	199|199	ENSP00000438547:A199V;ENSP00000316021:A199V|.	ENSP00000316021:A199V|ENSP00000370033:P199S	A|P	-|-	2|1	0|0	PLSCR3|PLSCR3	7236907|7236907	0.974000|0.974000	0.33945|0.33945	0.842000|0.842000	0.33263|0.33263	0.991000|0.991000	0.79684|0.79684	3.347000|3.347000	0.52200|0.52200	1.405000|1.405000	0.46838|0.46838	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.587	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1	0			17:7296183
UACA	55075	broad.mit.edu	37	15	70960066	70960066	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr15:70960066G>A	ENST00000322954.6	-	16	3142	c.2957C>T	c.(2956-2958)gCc>gTc	p.A986V	UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000539319.1_Missense_Mutation_p.A877V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	986					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAATTGGGGCGTATTTTAC	0.403																																						ENST00000322954.6		NA																	0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2956-2958)gCc>gTc		uveal autoantigen with coiled-coil domains and ankyrin repeats							183.0	168.0	173.0					15																	70960066		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960066G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2957C>T	15.37:g.70960066G>A	ENSP00000314556:p.Ala986Val	True	False		Somatic	0				UACA_ENST00000539319.1_Missense_Mutation_p.A877V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V|UACA_ENST00000560441.1_Missense_Mutation_p.A971V	p.A986V	NM_018003.2	NP_060473.2	WXS	Illumina HiSeq	Phase_I	Q9BZF9	UACA_HUMAN			16	3142	-			986					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2957C>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007305	0.19199	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34472	1.36;1.38;1.84	5.95	5.95	0.96441	.	0.090219	0.48286	D	0.000185	T	0.49508	0.1561	L	0.55481	1.735	0.37463	D	0.915283	P;P;P;P	0.47253	0.889;0.823;0.892;0.889	P;P;P;P	0.52217	0.693;0.497;0.497;0.542	T	0.35475	-0.9787	10	0.29301	T	0.29	-2.1448	20.3931	0.98965	0.0:0.0:1.0:0.0	.	877;986;986;973	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	986;973;877	ENSP00000314556:A986V;ENSP00000369319:A973V;ENSP00000438667:A877V	ENSP00000314556:A986V	A	-	2	0	UACA	68747120	1.000000	0.71417	0.022000	0.16811	0.126000	0.20510	5.695000	0.68279	2.824000	0.97209	0.655000	0.94253	GCC		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2	0			15:70960066
GUCY2D	3000	broad.mit.edu	37	17	7915536	7915536	+	Silent	SNP	G	G	A	rs63749078		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7915536G>A	ENST00000254854.4	+	9	1974	c.1824G>A	c.(1822-1824)gcG>gcA	p.A608A		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	608	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				AAGGCCCTGCGGCCCTCTGGG	0.617																																						ENST00000254854.4		NA																	0				skin(1)	1						c.(1822-1824)gcG>gcA		guanylate cyclase 2D, membrane (retina-specific)							38.0	43.0	42.0					17																	7915536		2203	4300	6503	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7915536G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1824G>A	17.37:g.7915536G>A		False	False		Somatic	0					p.A608A	NM_000180.3	NP_000171.1	WXS	Illumina HiSeq	Phase_I	Q02846	GUC2D_HUMAN			9	1974	+		Prostate(122;0.157)	608			Protein kinase.		Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.1824G>A	CCDS11127.1																																																																																				0.617	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2	0			17:7915536
FOLH1	2346	broad.mit.edu	37	11	49186320	49186320	+	Missense_Mutation	SNP	G	G	C	rs201724751		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:49186320G>C	ENST00000256999.2	-	13	1637	c.1377C>G	c.(1375-1377)aaC>aaG	p.N459K	FOLH1_ENST00000343844.4_Missense_Mutation_p.N151K|FOLH1_ENST00000340334.7_Missense_Mutation_p.N444K|FOLH1_ENST00000356696.3_Missense_Mutation_p.N459K|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.N444K	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	459	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TCAGAGTGTAGTTTCCTGAAA	0.294																																						ENST00000340334.7		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1330-1332)aaC>aaG		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						32.0	33.0	32.0					11																	49186320		2197	4289	6486	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186320G>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1377C>G	11.37:g.49186320G>C	ENSP00000256999:p.Asn459Lys	True	False		Somatic	0				FOLH1_ENST00000533034.1_Missense_Mutation_p.N444K|FOLH1_ENST00000356696.3_Missense_Mutation_p.N459K|FOLH1_ENST00000256999.2_Missense_Mutation_p.N459K|FOLH1_ENST00000343844.4_Missense_Mutation_p.N151K|FOLH1_ENST00000525629.1_5'UTR	p.N444K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	WXS	Illumina HiSeq	Phase_I	Q04609	FOLH1_HUMAN			14	1700	-			459			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1332C>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245817	0.39697	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	3.55	1.58	0.23477	Peptidase M28 (1);	0.093737	0.45867	N	0.000325	T	0.53254	0.1785	M	0.66439	2.03	0.45883	D	0.998732	D;D;D;P	0.69078	0.968;0.987;0.997;0.787	P;P;D;B	0.66979	0.823;0.86;0.948;0.416	T	0.48210	-0.9055	10	0.51188	T	0.08	.	5.6849	0.17797	0.3702:0.0:0.6298:0.0	.	444;444;459;459	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	K	459;459;444;151;444;462	ENSP00000256999:N459K;ENSP00000349129:N459K;ENSP00000344131:N444K;ENSP00000344086:N151K;ENSP00000431463:N444K	ENSP00000256999:N459K	N	-	3	2	FOLH1	49142896	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	1.017000	0.29989	0.194000	0.20326	0.405000	0.27470	AAC		0.294	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	0	NM_004476		11:49186320
GREB1	9687	broad.mit.edu	37	2	11773143	11773143	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:11773143G>A	ENST00000381486.2	+	28	5245	c.4945G>A	c.(4945-4947)Gtg>Atg	p.V1649M	GREB1_ENST00000396123.1_Missense_Mutation_p.V647M|GREB1_ENST00000234142.5_Missense_Mutation_p.V1649M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1649						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACTCCTGCGTGATGTGGAA	0.562																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2		NA																	0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4945-4947)Gtg>Atg		growth regulation by estrogen in breast cancer 1							133.0	143.0	139.0					2																	11773143		2148	4247	6395	SO:0001583	missense	9687					integral to membrane		g.chr2:11773143G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4945G>A	2.37:g.11773143G>A	ENSP00000370896:p.Val1649Met	False	False		Somatic	0				GREB1_ENST00000234142.5_Missense_Mutation_p.V1649M|GREB1_ENST00000396123.1_Missense_Mutation_p.V647M	p.V1649M	NM_014668.3	NP_055483.2	WXS	Illumina HiSeq	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	28	5245	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1649					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4945G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775048	0.90108	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.59364	0.27;0.27;0.27	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.77349	-0.2621	10	0.87932	D	0	-29.7818	19.1501	0.93485	0.0:0.0:1.0:0.0	.	1649	Q4ZG55	GREB1_HUMAN	M	1649;1649;647	ENSP00000370896:V1649M;ENSP00000234142:V1649M;ENSP00000379429:V647M	ENSP00000234142:V1649M	V	+	1	0	GREB1	11690594	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	9.254000	0.95512	2.517000	0.84864	0.557000	0.71058	GTG		0.562	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	0	NM_014668		2:11773143
OR2W5	441932	broad.mit.edu	37	1	247655131	247655131	+	RNA	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:247655131G>A	ENST00000522351.1	+	0	762							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCAGCAGGGCGAAAGAAAGCC	0.587																																						ENST00000522351.1		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															135.0	123.0	127.0					1																	247655131		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655131G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655131G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	762	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	NA					B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.587	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	NM_001004698		1:247655131
ARHGAP9	64333	broad.mit.edu	37	12	57871243	57871243	+	Splice_Site	SNP	G	G	A	rs147287939		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:57871243G>A	ENST00000356411.2	-	4	893	c.755C>T	c.(754-756)aCg>aTg	p.T252M	ARHGAP9_ENST00000430041.2_Splice_Site_p.T68M|ARHGAP9_ENST00000393791.3_Splice_Site_p.T252M|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Splice_Site_p.T331M|ARHGAP9_ENST00000424809.2_Splice_Site_p.T252M|ARHGAP9_ENST00000393797.2_Splice_Site_p.T323M			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	252					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGGTCTCACCGTCTCGCTGCG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		16625	0.001		0.0	False		,,,				2504	0.0					ENST00000393797.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(967-969)aCg>aTg		Rho GTPase activating protein 9		G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	54.0	60.0	58.0		203,755,755	-2.7	0.0	12	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice,missense-near-splice,missense-near-splice	ARHGAP9	NM_001080156.1,NM_001080157.1,NM_032496.2	81,81,81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign	68/548,252/641,252/732	57871243	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57871243G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.756+1C>T	12.37:g.57871243G>A		False	False		Somatic	0				ARHGAP9_ENST00000550288.1_Splice_Site_p.T331M|ARHGAP9_ENST00000356411.2_Splice_Site_p.T252M|ARHGAP9_ENST00000393791.3_Splice_Site_p.T252M|ARHGAP9_ENST00000430041.2_Splice_Site_p.T68M|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000424809.2_Splice_Site_p.T252M	p.T323M			WXS	Illumina HiSeq	Phase_I	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		7	1160	-			252			PH.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Splice_Site	SNP	ENST00000356411.2	37	c.968C>T		.	.	.	.	.	.	.	.	.	.	G	7.299	0.612678	0.14066	2.27E-4	2.33E-4	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066	T;T;T;T;T;T	0.48522	3.05;3.05;1.69;3.04;2.95;0.81	3.29	-2.65	0.06095	.	1.008660	0.07975	N	0.984731	T	0.28167	0.0695	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B	0.25955	0.138;0.016;0.001;0.005;0.008;0.004	B;B;B;B;B;B	0.11329	0.004;0.004;0.001;0.006;0.002;0.003	T	0.11446	-1.0587	10	0.33940	T	0.23	.	5.1466	0.14989	0.4042:0.0:0.4589:0.1369	.	252;331;252;252;252;68	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	M	252;252;252;323;301;68;68;68;105;68	ENSP00000377380:T252M;ENSP00000348782:T252M;ENSP00000394307:T252M;ENSP00000377386:T323M;ENSP00000397950:T68M;ENSP00000449829:T68M	ENSP00000344852:T301M	T	-	2	0	ARHGAP9	56157510	0.001000	0.12720	0.013000	0.15412	0.024000	0.10985	-0.850000	0.04317	-0.995000	0.03459	-0.797000	0.03246	ACG		0.577	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_032496	Missense_Mutation	12:57871243
RELA	5970	broad.mit.edu	37	11	65421892	65421892	+	Missense_Mutation	SNP	G	G	A	rs199846198		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:65421892G>A	ENST00000406246.3	-	11	1874	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	RELA_ENST00000308639.9_Missense_Mutation_p.A535V|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	538					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTCCATGTCCGCAATGGAGGA	0.642																																						ENST00000406246.3		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1612-1614)gCg>gTg		v-rel avian reticuloendotheliosis viral oncogene homolog A		G	VAL/ALA,VAL/ALA	0,4402		0,0,2201	30.0	31.0	31.0		1604,1613	-0.4	0.9	11		31	1,8593	1.2+/-3.3	0,1,4296	yes	missense,missense	RELA	NM_001145138.1,NM_021975.3	64,64	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	535/549,538/552	65421892	1,12995	2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65421892G>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1613C>T	11.37:g.65421892G>A	ENSP00000384273:p.Ala538Val	False	False		Somatic	0				RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.A535V	p.A538V	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	WXS	Illumina HiSeq	Phase_I	Q04206	TF65_HUMAN			11	1874	-			538					Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.1613C>T	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983831	0.35036	0.0	1.16E-4	ENSG00000173039	ENST00000406246;ENST00000308639	T;T	0.46819	0.86;0.86	4.05	-0.358	0.12575	.	0.871453	0.09819	N	0.751740	T	0.28366	0.0701	N	0.24115	0.695	0.19775	N	0.999957	B;B;B;B	0.12013	0.001;0.001;0.003;0.005	B;B;B;B	0.09377	0.001;0.001;0.004;0.002	T	0.19877	-1.0292	10	0.42905	T	0.14	-6.3589	3.7588	0.08596	0.3469:0.2045:0.4486:0.0	.	528;524;535;538	Q04206-3;Q04206-2;Q04206-4;Q04206	.;.;.;TF65_HUMAN	V	538;535	ENSP00000384273:A538V;ENSP00000311508:A535V	ENSP00000311508:A535V	A	-	2	0	RELA	65178468	0.304000	0.24472	0.883000	0.34634	0.993000	0.82548	1.272000	0.33109	0.072000	0.16694	-0.291000	0.09656	GCG		0.642	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	0	NM_021975		11:65421892
CHIAP2	149620	broad.mit.edu	37	1	111825998	111825998	+	RNA	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:111825998G>A	ENST00000369743.4	+	0	1363					NR_003928.1				chitinase, acidic pseudogene 2																		ACAAATACCCGACTGACACCG	0.532																																						ENST00000369743.4		NA																	0					NA																																														0							g.chr1:111825998G>A			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111825998G>A		True	False		Somatic	0						NR_003928.1		WXS	Illumina HiSeq	Phase_I					0	1363	+			NA						RNA	SNP	ENST00000369743.4	37																																																																																						0.532	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3	0			1:111825998
BICC1	80114	broad.mit.edu	37	10	60560029	60560029	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:60560029C>T	ENST00000373886.3	+	13	1805	c.1801C>T	c.(1801-1803)Ccg>Tcg	p.P601S	BICC1_ENST00000263103.1_Missense_Mutation_p.P227S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	601					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TCACGGGGATCCGTCCATCCA	0.403																																						ENST00000373886.3		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(1801-1803)Ccg>Tcg		bicaudal C homolog 1 (Drosophila)							49.0	46.0	47.0					10																	60560029		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60560029C>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1801C>T	10.37:g.60560029C>T	ENSP00000362993:p.Pro601Ser	False	False		Somatic	0				BICC1_ENST00000263103.1_Missense_Mutation_p.P227S	p.P601S	NM_001080512.1	NP_001073981.1	WXS	Illumina HiSeq	Phase_I	Q9H694	BICC1_HUMAN			13	1805	+			601						Missense_Mutation	SNP	ENST00000373886.3	37	c.1801C>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	5.695	0.312787	0.10789	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.46451	1.74;0.87	6.02	6.02	0.97574	.	0.159123	0.64402	D	0.000013	T	0.22399	0.0540	N	0.14661	0.345	0.27805	N	0.942355	B;B	0.17852	0.024;0.003	B;B	0.12156	0.007;0.003	T	0.19192	-1.0313	10	0.06891	T	0.86	-15.2366	10.2723	0.43489	0.0:0.6824:0.2487:0.0689	.	521;601	E7EU62;Q9H694	.;BICC1_HUMAN	S	601;227	ENSP00000362993:P601S;ENSP00000263103:P227S	ENSP00000263103:P227S	P	+	1	0	BICC1	60230035	0.935000	0.31712	1.000000	0.80357	0.353000	0.29299	0.429000	0.21412	2.865000	0.98341	0.655000	0.94253	CCG		0.403	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	0	NM_025044		10:60560029
GRM4	2914	broad.mit.edu	37	6	34003851	34003851	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:34003851C>T	ENST00000538487.2	-	9	2479	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	GRM4_ENST00000544773.2_Missense_Mutation_p.R510H|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000374181.4_Missense_Mutation_p.R679H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000609222.1_Missense_Mutation_p.R546H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	679					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCGAAGATGCGGTAGATGCG	0.627																																						ENST00000538487.2		NA																	0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2035-2037)cGc>cAc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						135.0	138.0	137.0					6																	34003851		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003851C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2036G>A	6.37:g.34003851C>T	ENSP00000440556:p.Arg679His	False	False		Somatic	0				GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000374181.4_Missense_Mutation_p.R679H|GRM4_ENST00000609222.1_Missense_Mutation_p.R546H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000544773.2_Missense_Mutation_p.R510H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000545715.1_5'UTR	p.R679H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	WXS	Illumina HiSeq	Phase_I	Q14833	GRM4_HUMAN			9	2479	-			NA					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2036G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725414	0.89298	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.89	4.89	0.63831	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.993;0.996;0.999;0.999	D	0.96098	0.9067	10	0.87932	D	0	.	17.8595	0.88777	0.0:1.0:0.0:0.0	.	632;510;539;679;546	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	H	679;563;371;546;510;679;539	ENSP00000363296:R679H;ENSP00000363292:R563H;ENSP00000445533:R371H;ENSP00000437925:R546H;ENSP00000437730:R510H;ENSP00000440556:R679H;ENSP00000398456:R539H	ENSP00000363292:R563H	R	-	2	0	GRM4	34111829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.580000	0.82523	2.539000	0.85634	0.462000	0.41574	CGC		0.627	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	0			6:34003851
PAPPA2	60676	broad.mit.edu	37	1	176526097	176526097	+	Silent	SNP	C	C	T	rs371392086		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:176526097C>T	ENST00000367662.3	+	2	1803	c.639C>T	c.(637-639)tcC>tcT	p.S213S	PAPPA2_ENST00000367661.3_Silent_p.S213S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	213					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						AGGGAGACTCCGGTATCTCTT	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14145	0.0		0.0	False		,,,				2504	0.0					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.(637-639)tcC>tcT		pappalysin 2		C	,	1,3983		0,1,1991	91.0	98.0	96.0		639,639	-5.1	0.0	1		96	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	PAPPA2	NM_020318.2,NM_021936.2	,	0,1,6142	TT,TC,CC		0.0,0.0251,0.0081	,	213/1792,213/828	176526097	1,12285	1992	4151	6143	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526097C>T	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.639C>T	1.37:g.176526097C>T		False	False		Somatic	0				PAPPA2_ENST00000367661.3_Silent_p.S213S	p.S213S	NM_020318.2	NP_064714.2	WXS	Illumina HiSeq	Phase_I	Q9BXP8	PAPP2_HUMAN			2	1803	+			213					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.639C>T	CCDS41438.1																																																																																				0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	0			1:176526097
GSE1	23199	broad.mit.edu	37	16	85682180	85682180	+	Silent	SNP	G	G	A	rs370456740		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:85682180G>A	ENST00000253458.7	+	3	425	c.249G>A	c.(247-249)tcG>tcA	p.S83S	GSE1_ENST00000405402.2_5'UTR|GSE1_ENST00000393243.1_Silent_p.S10S	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	83																	GCAGCGAGTCGTCCCCCGTGT	0.697																																						ENST00000253458.7		NA																	0					NA						c.(247-249)tcG>tcA		Gse1 coiled-coil protein		G	,	0,4396		0,0,2198	72.0	75.0	74.0		,249	-3.1	1.0	16		74	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,coding-synonymous	KIAA0182	NM_001134473.1,NM_014615.2	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	,83/1218	85682180	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23199							g.chr16:85682180G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.249G>A	16.37:g.85682180G>A		False	False		Somatic	0				GSE1_ENST00000393243.1_Silent_p.S10S|GSE1_ENST00000405402.2_5'UTR	p.S83S	NM_014615.2	NP_055430.1	WXS	Illumina HiSeq	Phase_I					3	425	+			NA					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.249G>A	CCDS10952.1																																																																																				0.697	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	0	NM_014615		16:85682180
ANKRD35	148741	broad.mit.edu	37	1	145567068	145567068	+	Silent	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:145567068C>T	ENST00000355594.4	+	12	3003	c.2916C>T	c.(2914-2916)taC>taT	p.Y972Y		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	972										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTCCACCTACAGGAATCATC	0.478																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4		NA																	0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(2914-2916)taC>taT		ankyrin repeat domain 35							174.0	160.0	164.0					1																	145567068		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145567068C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2916C>T	1.37:g.145567068C>T		False	False		Somatic	0					p.Y972Y	NM_144698.3	NP_653299.4	WXS	Illumina HiSeq	Phase_I	Q8N283	ANR35_HUMAN			12	3003	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		972					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.2916C>T	CCDS919.1																																																																																				0.478	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	0	NM_144698		1:145567068
ZSWIM2	151112	broad.mit.edu	37	2	187702250	187702250	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:187702250A>T	ENST00000295131.2	-	5	565	c.526T>A	c.(526-528)Tgc>Agc	p.C176S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	176					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCTTCATGCATTTTATATGA	0.318																																						ENST00000295131.2		NA																	0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(526-528)Tgc>Agc		zinc finger, SWIM-type containing 2							66.0	68.0	67.0					2																	187702250		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702250A>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.526T>A	2.37:g.187702250A>T	ENSP00000295131:p.Cys176Ser	True	False		Somatic	0					p.C176S	NM_182521.2	NP_872327.2	WXS	Illumina HiSeq	Phase_I	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	565	-			176					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.526T>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228314	0.79576	.	.	ENSG00000163012	ENST00000295131	D	0.99701	-6.45	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000014	D	0.99729	0.9894	M	0.90542	3.125	0.51233	D	0.999915	D	0.89917	1.0	D	0.85130	0.997	D	0.97371	0.9976	10	0.87932	D	0	-6.639	13.9615	0.64182	1.0:0.0:0.0:0.0	.	176	Q8NEG5	ZSWM2_HUMAN	S	176	ENSP00000295131:C176S	ENSP00000295131:C176S	C	-	1	0	ZSWIM2	187410495	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.756000	0.74919	2.287000	0.76781	0.482000	0.46254	TGC		0.318	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	0	NM_182521		2:187702250
NCKIPSD	51517	broad.mit.edu	37	3	48716527	48716527	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:48716527A>T	ENST00000294129.2	-	10	1779	c.1660T>A	c.(1660-1662)Tgc>Agc	p.C554S	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.C547S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.C554S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	554	Leu-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTTCACGCAGAGGTCCGGC	0.652																																						ENST00000294129.2		NA																	0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1660-1662)Tgc>Agc		NCK interacting protein with SH3 domain							54.0	57.0	56.0					3																	48716527		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48716527A>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1660T>A	3.37:g.48716527A>T	ENSP00000294129:p.Cys554Ser	False	False		Somatic	0				NCKIPSD_ENST00000416649.2_Missense_Mutation_p.C547S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.C554S	p.C554S	NM_016453.2	NP_057537.1	WXS	Illumina HiSeq	Phase_I	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	10	1779	-			554			Leu-rich.		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1660T>A	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.504546|4.504546	0.85176|0.85176	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000413374|ENST00000415281	T;T;T;T|T	0.65549|0.58797	1.04;-0.16;-0.16;1.04|0.31	5.37|5.37	5.37|5.37	0.77165|0.77165	Domain of unknown function DUF2013 (1);|.	0.062767|.	0.64402|.	U|.	0.000005|.	T|T	0.58452|0.58452	0.2123|0.2123	L|L	0.29908|0.29908	0.895|0.895	0.37845|0.37845	D|D	0.929171|0.929171	P;P|.	0.52316|.	0.952;0.94|.	P;P|.	0.50270|.	0.636;0.503|.	T|T	0.67007|0.67007	-0.5779|-0.5779	10|7	0.44086|0.87932	T|D	0.13|0	.|.	15.3635|15.3635	0.74499|0.74499	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	554;547|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	S|Q	554;547;554;10|262	ENSP00000342621:C554S;ENSP00000389059:C547S;ENSP00000294129:C554S;ENSP00000396683:C10S|ENSP00000406442:L262Q	ENSP00000294129:C554S|ENSP00000406442:L262Q	C|L	-|-	1|2	0|0	NCKIPSD|NCKIPSD	48691531|48691531	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.952000|0.952000	0.60782|0.60782	8.804000|8.804000	0.91921|0.91921	2.020000|2.020000	0.59435|0.59435	0.528000|0.528000	0.53228|0.53228	TGC|CTG		0.652	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	0	NM_016453		3:48716527
COL12A1	1303	broad.mit.edu	37	6	75884826	75884826	+	Missense_Mutation	SNP	C	C	A	rs568432319		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:75884826C>A	ENST00000322507.8	-	13	2947	c.2638G>T	c.(2638-2640)Gcc>Tcc	p.A880S	COL12A1_ENST00000483888.2_Missense_Mutation_p.A880S|COL12A1_ENST00000416123.2_Missense_Mutation_p.A880S|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	880	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAGATAAGGCGTATTGTGTC	0.488																																						ENST00000322507.8		NA																	0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2638-2640)Gcc>Tcc		collagen, type XII, alpha 1							255.0	252.0	253.0					6																	75884826		2018	4174	6192	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75884826C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2638G>T	6.37:g.75884826C>A	ENSP00000325146:p.Ala880Ser	False	False		Somatic	0				COL12A1_ENST00000416123.2_Missense_Mutation_p.A880S|COL12A1_ENST00000483888.2_Missense_Mutation_p.A880S|COL12A1_ENST00000345356.6_Intron	p.A880S	NM_004370.5	NP_004361.3	WXS	Illumina HiSeq	Phase_I	Q99715	COCA1_HUMAN			13	2947	-			880			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2638G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	2.403	-0.337063	0.05278	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.55413	0.52;0.52;0.52	5.94	1.54	0.23209	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.364138	0.26262	N	0.025382	T	0.04634	0.0126	N	0.00683	-1.26	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45264	-0.9273	10	0.09338	T	0.73	.	6.377	0.21513	0.1909:0.5768:0.0:0.2323	.	880	Q99715	COCA1_HUMAN	S	880	ENSP00000325146:A880S;ENSP00000412864:A880S;ENSP00000421216:A880S	ENSP00000325146:A880S	A	-	1	0	COL12A1	75941546	0.123000	0.22298	0.345000	0.25642	0.519000	0.34347	0.857000	0.27831	0.338000	0.23692	0.557000	0.71058	GCC		0.488	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	0	NM_004370		6:75884826
RALGAPA2	57186	broad.mit.edu	37	20	20493737	20493737	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr20:20493737G>C	ENST00000202677.7	-	32	4283	c.4276C>G	c.(4276-4278)Ctg>Gtg	p.L1426V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1426					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACAGCTGCAGGTTTGGACTT	0.537																																						ENST00000202677.7		NA																	0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(4276-4278)Ctg>Gtg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							53.0	51.0	52.0					20																	20493737		1935	4138	6073	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493737G>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4276C>G	20.37:g.20493737G>C	ENSP00000202677:p.Leu1426Val	False	False		Somatic	0					p.L1426V	NM_020343.3	NP_065076.2	WXS	Illumina HiSeq	Phase_I	Q2PPJ7	RGPA2_HUMAN			32	4283	-			NA					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4276C>G	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	9.998	1.232569	0.22626	.	.	ENSG00000188559	ENST00000202677	D	0.95518	-3.73	5.62	1.44	0.22558	.	0.000000	0.64402	D	0.000003	D	0.95831	0.8643	L	0.57536	1.79	0.39079	D	0.960872	B;D;B	0.76494	0.119;0.999;0.34	B;D;B	0.87578	0.074;0.998;0.241	D	0.93616	0.6943	9	.	.	.	.	6.8563	0.24042	0.2006:0.0:0.6743:0.1251	.	1264;1426;1426	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	V	1426	ENSP00000202677:L1426V	.	L	-	1	2	RALGAPA2	20441737	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.455000	0.35190	0.394000	0.25230	0.591000	0.81541	CTG		0.537	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	0	NM_020343		20:20493737
NBPF9	400818	broad.mit.edu	37	1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						ENST00000440491.2		NA																	0				NS(2)|prostate(1)	3						c.(1360-1362)gGt>gAt		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp	True	False		Somatic	0				NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	p.G454D	NM_001037675.2	NP_001032764.2	WXS	Illumina HiSeq	Phase_I					11	1361	+			NA						Missense_Mutation	SNP	ENST00000440491.2	37	c.1361G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		0	NM_001037675		1:144825409
EVPL	2125	broad.mit.edu	37	17	74004853	74004853	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:74004853G>A	ENST00000301607.3	-	22	4686	c.4433C>T	c.(4432-4434)aCg>aTg	p.T1478M	EVPL_ENST00000586740.1_Missense_Mutation_p.T1500M|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1478	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGGGCTTCCGTGGACTTCTC	0.592																																						ENST00000301607.3		NA																	0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4432-4434)aCg>aTg		envoplakin							139.0	130.0	133.0					17																	74004853		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004853G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4433C>T	17.37:g.74004853G>A	ENSP00000301607:p.Thr1478Met	False	False		Somatic	0				EVPL_ENST00000586740.1_Missense_Mutation_p.T1500M	p.T1478M	NM_001988.2	NP_001979.2	WXS	Illumina HiSeq	Phase_I	Q92817	EVPL_HUMAN			22	4686	-			1478			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4433C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061342	0.36373	.	.	ENSG00000167880	ENST00000301607	T	0.51071	0.72	4.97	2.95	0.34219	.	0.260239	0.37348	N	0.002130	T	0.56499	0.1989	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.993	P;P	0.60886	0.88;0.557	T	0.43491	-0.9388	10	0.33141	T	0.24	-10.1564	7.5309	0.27683	0.1539:0.1373:0.7088:0.0	.	1500;1478	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1478	ENSP00000301607:T1478M	ENSP00000301607:T1478M	T	-	2	0	EVPL	71516448	0.967000	0.33354	0.054000	0.19295	0.810000	0.45777	4.105000	0.57797	1.081000	0.41110	0.561000	0.74099	ACG		0.592	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	0	NM_001988		17:74004853
CCDC30	728621	broad.mit.edu	37	1	43102964	43102964	+	Missense_Mutation	SNP	G	G	A	rs373736967		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:43102964G>A	ENST00000340612.4	+	10	1553	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	CCDC30_ENST00000390640.4_Missense_Mutation_p.R307H|CCDC30_ENST00000342022.4_Missense_Mutation_p.R518H|CCDC30_ENST00000428554.2_Missense_Mutation_p.R518H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R307H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	518						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTCAAGTATCGTTTAACTAAT	0.289																																						ENST00000428554.2		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1552-1554)cGt>cAt		coiled-coil domain containing 30							63.0	64.0	64.0					1																	43102964		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43102964G>A	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1553G>A	1.37:g.43102964G>A	ENSP00000340378:p.Arg518His	True	False		Somatic	0				CCDC30_ENST00000342022.4_Missense_Mutation_p.R518H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R307H|CCDC30_ENST00000340612.4_Missense_Mutation_p.R518H|CCDC30_ENST00000390640.4_Missense_Mutation_p.R307H	p.R518H			WXS	Illumina HiSeq	Phase_I	Q5VVM6	CCD30_HUMAN			18	2696	+			518					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1553G>A	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	1.478	-0.557961	0.03967	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.15	-4.26	0.03755	.	0.936186	0.09089	N	0.850066	T	0.21022	0.0506	N	0.20685	0.6	0.09310	N	1	B;B	0.26041	0.004;0.14	B;B	0.14578	0.004;0.011	T	0.16482	-1.0401	10	0.28530	T	0.3	.	6.4888	0.22103	0.4884:0.0:0.3932:0.1184	.	518;307	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	H	518;307;518;518;307	ENSP00000397035:R518H;ENSP00000426711:R307H;ENSP00000340378:R518H;ENSP00000339280:R518H;ENSP00000375051:R307H	ENSP00000340378:R518H	R	+	2	0	CCDC30	42875551	0.000000	0.05858	0.008000	0.14137	0.303000	0.27691	-1.863000	0.01651	-0.705000	0.05035	-0.378000	0.06908	CGT		0.289	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	0	NM_025030		1:43102964
CD1D	912	broad.mit.edu	37	1	158152716	158152716	+	Missense_Mutation	SNP	G	G	A	rs199860570		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:158152716G>A	ENST00000368171.3	+	5	1155	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	219	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCTGCTG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17566	0.001		0.0	False		,,,				2504	0.0					ENST00000368171.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(655-657)cGt>cAt		CD1d molecule							85.0	85.0	85.0					1																	158152716		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152716G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.656G>A	1.37:g.158152716G>A	ENSP00000357153:p.Arg219His	False	False		Somatic	0					p.R219H	NM_001766.3	NP_001757.1	WXS	Illumina HiSeq	Phase_I	P15813	CD1D_HUMAN			5	1155	+	all_hematologic(112;0.0378)		219			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.656G>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606585	0.28623	.	.	ENSG00000158473	ENST00000368171	T	0.13901	2.55	5.18	-0.738	0.11125	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.528179	0.17322	N	0.178449	T	0.01592	0.0051	N	0.13043	0.29	0.26068	N	0.981252	B	0.21688	0.059	B	0.14578	0.011	T	0.46527	-0.9185	10	0.19147	T	0.46	-1.3462	4.2679	0.10771	0.4919:0.1772:0.3308:0.0	.	219	P15813	CD1D_HUMAN	H	219	ENSP00000357153:R219H	ENSP00000357153:R219H	R	+	2	0	CD1D	156419340	0.000000	0.05858	0.998000	0.56505	0.830000	0.47004	-1.412000	0.02476	0.204000	0.20548	-0.751000	0.03497	CGT		0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	0	NM_001766		1:158152716
KRT37	8688	broad.mit.edu	37	17	39580491	39580491	+	Silent	SNP	G	G	A	rs146872723	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:39580491G>A	ENST00000225550.3	-	1	284	c.285C>T	c.(283-285)taC>taT	p.Y95Y	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	95	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TGTTTTTGCCGTAGGCCCCAC	0.597																																						ENST00000225550.3		NA																	0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(283-285)taC>taT		keratin 37		G		5,4401		0,5,2198	86.0	72.0	77.0		285	-7.4	0.0	17	dbSNP_134	77	1,8599		0,1,4299	yes	coding-synonymous	KRT37	NM_003770.4		0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461		95/450	39580491	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39580491G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.285C>T	17.37:g.39580491G>A		False	False		Somatic	0				AC003958.2_ENST00000432258.1_RNA	p.Y95Y	NM_003770.4	NP_003761.3	WXS	Illumina HiSeq	Phase_I	O76014	KRT37_HUMAN			1	284	-		Breast(137;0.000496)	95			Head.			Silent	SNP	ENST00000225550.3	37	c.285C>T	CCDS32653.1																																																																																				0.597	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	0	NM_003770		17:39580491
NBPF9	400818	broad.mit.edu	37	1	144828545	144828545	+	Missense_Mutation	SNP	A	A	T	rs199609970	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144828545A>T	ENST00000281815.8	+	13	1131	c.385A>T	c.(385-387)Aac>Tac	p.N129Y	NBPF9_ENST00000440491.2_Silent_p.S604S|NBPF9_ENST00000338347.4_Missense_Mutation_p.N531Y|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	789						cytoplasm (GO:0005737)		p.N531Y(1)		NS(2)|prostate(1)	3						TTCCAGGCTCAACGGCGTGCT	0.453																																						ENST00000338347.4		NA																	1	Substitution - Missense(1)	p.N531Y(1)	endometrium(1)	NS(2)|prostate(1)	3						c.(1591-1593)Aac>Tac		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144828545A>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.385A>T	1.37:g.144828545A>T	ENSP00000281815:p.Asn129Tyr	False	False		Somatic	0				NBPF9_ENST00000440491.2_Silent_p.S604S|NBPF9_ENST00000281815.8_Missense_Mutation_p.N129Y|NBPF9_ENST00000468645.1_3'UTR	p.N531Y			WXS	Illumina HiSeq	Phase_I					14	1591	+			NA						Missense_Mutation	SNP	ENST00000281815.8	37	c.1591A>T		.	.	.	.	.	.	.	.	.	.	.	9.174	1.021883	0.19433	.	.	ENSG00000168614	ENST00000338347;ENST00000281815	T;T	0.07444	3.19;3.19	0.618	-1.24	0.09435	.	.	.	.	.	T	0.07638	0.0192	.	.	.	0.09310	N	1	D;P;B;B;P	0.71674	0.998;0.6;0.02;0.011;0.716	D;P;B;B;B	0.63488	0.915;0.701;0.029;0.084;0.194	T	0.12041	-1.0563	7	0.51188	T	0.08	.	.	.	.	.	595;191;762;537;604	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.;.;.;.;.	Y	531;129	ENSP00000342975:N531Y;ENSP00000281815:N129Y	ENSP00000281815:N129Y	N	+	1	0	NBPF9	143539902	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	-0.395000	0.07287	-0.516000	0.06470	0.163000	0.16589	AAC		0.453	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_001037675		1:144828545
RNF19A	25897	broad.mit.edu	37	8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	138					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTAGAATGCCGCAAAAGGCAC	0.373																																						ENST00000519449.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(412-414)Cgg>Tgg		ring finger protein 19A, RBR E3 ubiquitin protein ligase							107.0	108.0	107.0					8																	101299991		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299991G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.412C>T	8.37:g.101299991G>A	ENSP00000428968:p.Arg138Trp	False	False		Somatic	0				RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	WXS	Illumina HiSeq	Phase_I	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	728	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		138					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.412C>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139684	0.77775	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.84146	-1.81;-1.81	5.57	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.056803	0.64402	D	0.000001	D	0.88123	0.6352	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	P	0.53490	0.727	D	0.87527	0.2450	10	0.66056	D	0.02	.	10.4328	0.44417	0.07:0.0:0.7955:0.1345	.	138	Q9NV58	RN19A_HUMAN	W	138	ENSP00000428968:R138W;ENSP00000342667:R138W	ENSP00000342667:R138W	R	-	1	2	RNF19A	101369167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.654000	0.67974	0.707000	0.31934	-0.142000	0.14014	CGG		0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	0	NM_015435		8:101299991
CDR2	1039	broad.mit.edu	37	16	22448619	22448619	+	5'Flank	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:22448619C>T	ENST00000569045.1	-	0	0				RRN3P3_ENST00000551766.1_RNA			Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa							cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		tcggcttcctcctcAGCCCCG	0.741																																						ENST00000551766.1		NA																	0					NA																																												SO:0001631	upstream_gene_variant	0							g.chr16:22448619C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850			16.37:g.22448619C>T	Exception_encountered	False	False		Somatic	0						NR_027460.1		WXS	Illumina HiSeq	Phase_I					0	417	-			NA					A8K8A8|Q13977	RNA	SNP	ENST00000569045.1	37																																																																																						0.741	CDR2-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000430087.1	0			16:22448619
ACRC	93953	broad.mit.edu	37	X	70823856	70823856	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:70823856A>T	ENST00000373695.1	+	7	1266	c.729A>T	c.(727-729)gaA>gaT	p.E243D	ACRC_ENST00000373696.3_Missense_Mutation_p.E243D			Q96QF7	ACRC_HUMAN	acidic repeat containing	243	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ATGATTCGGAAGCTCCCGACG	0.547																																						ENST00000373695.1		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(727-729)gaA>gaT		acidic repeat containing							154.0	135.0	141.0					X																	70823856		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823856A>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.729A>T	X.37:g.70823856A>T	ENSP00000362799:p.Glu243Asp	False	False		Somatic	0				ACRC_ENST00000373696.3_Missense_Mutation_p.E243D	p.E243D			WXS	Illumina HiSeq	Phase_I	Q96QF7	ACRC_HUMAN			7	1266	+	Renal(35;0.156)		243			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.729A>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	-	2.020	-0.424863	0.04734	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34072	1.38;1.38	0.131	0.131	0.14755	.	.	.	.	.	T	0.12987	0.0315	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31724	-0.9933	9	0.15499	T	0.54	.	4.572	0.12214	0.9995:0.0:5.0E-4:0.0	.	243	Q96QF7	ACRC_HUMAN	D	243	ENSP00000362800:E243D;ENSP00000362799:E243D	ENSP00000362799:E243D	E	+	3	2	ACRC	70740581	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.865000	0.04250	0.134000	0.18681	0.133000	0.15847	GAA		0.547	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1	0			X:70823856
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418									Familial Paragangliomas																													ENST00000264932.6		NA																	2	Substitution - Missense(2)	p.E240Q(2)	lung(1)|prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(718-720)Gag>Cag		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						100.0	92.0	95.0					5																	228396		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228396G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.718G>C	5.37:g.228396G>C	ENSP00000264932:p.Glu240Gln	False	False		Somatic	0				SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q	p.E240Q	NM_004168.2	NP_004159.2	WXS	Illumina HiSeq	Phase_I	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	833	+			240		E -> Q (in dbSNP:rs1041946).			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.718G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.02	3.531241	0.64972	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.063690	0.64402	U	0.000008	T	0.81973	0.4936	M	0.67397	2.05	0.80722	D	1	P;P;D;P;P	0.69078	0.494;0.614;0.997;0.605;0.605	P;P;D;B;B	0.65874	0.457;0.493;0.939;0.2;0.315	D	0.83437	0.0041	10	0.66056	D	0.02	.	16.7213	0.85410	0.0:0.0:1.0:0.0	rs1041946;rs3181411;rs17410941	192;240;240;240;246	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	Q	240;240;192	ENSP00000264932:E240Q;ENSP00000426514:E240Q;ENSP00000427703:E192Q	ENSP00000264932:E240Q	E	+	1	0	SDHA	281396	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.579000	0.82511	2.633000	0.89246	0.644000	0.83932	GAG		0.418	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	0	NM_004168		5:228396
NFATC4	4776	broad.mit.edu	37	14	24842975	24842975	+	Missense_Mutation	SNP	G	G	A	rs372002281		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:24842975G>A	ENST00000250373.4	+	5	1775	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	NFATC4_ENST00000553879.1_Missense_Mutation_p.R475H|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000556169.1_Missense_Mutation_p.R533H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R558H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R608H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R533H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R577H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R533H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R545H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R558H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R577H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R475H|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000555590.1_Missense_Mutation_p.R558H|NFATC4_ENST00000413692.2_Missense_Mutation_p.R608H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R577H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554473.1_Missense_Mutation_p.R80H|NFATC4_ENST00000556759.1_Missense_Mutation_p.R80H|NFATC4_ENST00000555167.1_Missense_Mutation_p.R80H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R475H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R545H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	545	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.R545H(1)|p.R608H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GACATCGGGCGCAAAAACACA	0.592																																						ENST00000413692.2		NA																	2	Substitution - Missense(2)	p.R545H(1)|p.R608H(1)	kidney(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(1822-1824)cGc>cAc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							98.0	94.0	95.0					14																	24842975		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24842975G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1634G>A	14.37:g.24842975G>A	ENSP00000250373:p.Arg545His	False	False		Somatic	0				NFATC4_ENST00000539237.2_Missense_Mutation_p.R577H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R608H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R533H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R545H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R577H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R533H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R545H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R558H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R475H|NFATC4_ENST00000556759.1_Missense_Mutation_p.R80H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R475H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R577H|NFATC4_ENST00000555167.1_Missense_Mutation_p.R80H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R475H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R558H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R545H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R558H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554473.1_Missense_Mutation_p.R80H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R533H	p.R608H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	WXS	Illumina HiSeq	Phase_I	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	6	1967	+			545			IPT/TIG.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1823G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453251	0.96223	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	4.88	4.88	0.63580	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.995;0.995;0.999;0.997;0.999;0.999;0.998;0.998;0.998;0.996;0.999;0.999;0.999;0.999;0.999	D	0.93493	0.6837	10	0.87932	D	0	-5.9017	15.5774	0.76404	0.0:0.0:1.0:0.0	.	533;533;577;577;558;558;558;608;608;533;475;577;522;608;545	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	608;608;558;558;558;577;577;577;545;545;545;475;475;475;533;475;533;533;80;80;80	ENSP00000388910:R608H;ENSP00000452039:R608H;ENSP00000451224:R558H;ENSP00000450644:R558H;ENSP00000388668:R558H;ENSP00000439350:R577H;ENSP00000452270:R577H;ENSP00000451502:R577H;ENSP00000451151:R545H;ENSP00000250373:R545H;ENSP00000450590:R545H;ENSP00000452349:R475H;ENSP00000450469:R475H;ENSP00000450733:R475H;ENSP00000451454:R533H;ENSP00000451284:R475H;ENSP00000396788:R533H;ENSP00000450686:R533H;ENSP00000450810:R80H;ENSP00000451183:R80H;ENSP00000451395:R80H	ENSP00000250373:R545H	R	+	2	0	NFATC4	23912815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.652000	0.98499	2.515000	0.84797	0.655000	0.94253	CGC		0.592	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	0	NM_004554		14:24842975
TRPM6	140803	broad.mit.edu	37	9	77431650	77431650	+	Missense_Mutation	SNP	C	C	A	rs374760193		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:77431650C>A	ENST00000360774.1	-	11	1480	c.1243G>T	c.(1243-1245)Gca>Tca	p.A415S	TRPM6_ENST00000376871.3_Missense_Mutation_p.A415S|TRPM6_ENST00000376872.3_Missense_Mutation_p.A415S|TRPM6_ENST00000376864.4_Missense_Mutation_p.A415S|TRPM6_ENST00000361255.3_Missense_Mutation_p.A410S|TRPM6_ENST00000449912.2_Missense_Mutation_p.A410S|TRPM6_ENST00000451710.3_Missense_Mutation_p.A415S	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	415					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAGCCATTGCCAGATTTAAT	0.353																																						ENST00000451710.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1243-1245)Gca>Tca		transient receptor potential cation channel, subfamily M, member 6							113.0	112.0	112.0					9																	77431650		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77431650C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1243G>T	9.37:g.77431650C>A	ENSP00000354006:p.Ala415Ser	False	False		Somatic	0				TRPM6_ENST00000376872.3_Missense_Mutation_p.A415S|TRPM6_ENST00000449912.2_Missense_Mutation_p.A410S|TRPM6_ENST00000376871.3_Missense_Mutation_p.A415S|TRPM6_ENST00000360774.1_Missense_Mutation_p.A415S|TRPM6_ENST00000361255.3_Missense_Mutation_p.A410S|TRPM6_ENST00000376864.4_Missense_Mutation_p.A415S	p.A415S			WXS	Illumina HiSeq	Phase_I	Q9BX84	TRPM6_HUMAN			11	1480	-			415					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1243G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295979	0.81025	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.68	4.79	0.61399	.	0.148965	0.64402	D	0.000011	T	0.79551	0.4465	M	0.80982	2.52	0.53688	D	0.999978	P;P;D;P	0.65815	0.944;0.944;0.995;0.849	P;P;P;P	0.58721	0.475;0.572;0.844;0.674	T	0.82950	-0.0203	10	0.72032	D	0.01	.	14.6447	0.68751	0.0:0.9302:0.0:0.0698	.	415;415;415;410	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	S	415;415;415;415;410;410;415;78;78	ENSP00000354006:A415S;ENSP00000407341:A415S;ENSP00000366068:A415S;ENSP00000366067:A415S;ENSP00000396672:A410S;ENSP00000354962:A410S;ENSP00000366060:A415S	ENSP00000309693:A78S	A	-	1	0	TRPM6	76621470	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.336000	0.33850	1.418000	0.47098	0.555000	0.69702	GCA		0.353	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	0	NM_017662		9:77431650
ANK2	287	broad.mit.edu	37	4	114203916	114203916	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr4:114203916A>T	ENST00000357077.4	+	18	2020	c.1967A>T	c.(1966-1968)aAc>aTc	p.N656I	ANK2_ENST00000506722.1_Missense_Mutation_p.N635I|ANK2_ENST00000394537.3_Missense_Mutation_p.N656I|ANK2_ENST00000264366.6_Missense_Mutation_p.N656I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	656					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGAGACAAACATTGTGACA	0.448																																						ENST00000357077.4		NA																	0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1966-1968)aAc>aTc		ankyrin 2, neuronal							131.0	105.0	114.0					4																	114203916		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114203916A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1967A>T	4.37:g.114203916A>T	ENSP00000349588:p.Asn656Ile	True	False		Somatic	0				ANK2_ENST00000264366.6_Missense_Mutation_p.N656I|ANK2_ENST00000394537.3_Missense_Mutation_p.N656I|ANK2_ENST00000506722.1_Missense_Mutation_p.N635I	p.N656I	NM_001148.4	NP_001139.3	WXS	Illumina HiSeq	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	18	2020	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	656					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1967A>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654034	0.88056	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71461	-0.57;2.06;-0.57;-0.57;-0.57;-0.57;-0.57	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.099795	0.43579	D	0.000555	D	0.85435	0.5696	M	0.87682	2.9	0.80722	D	1	D;D;D;D;P	0.76494	0.996;0.999;0.995;0.989;0.857	D;D;D;D;P	0.69824	0.964;0.966;0.939;0.917;0.66	D	0.88380	0.3001	10	0.87932	D	0	.	15.2245	0.73339	1.0:0.0:0.0:0.0	.	656;656;656;635;635	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	I	635;602;635;671;656;656;656;635	ENSP00000423799:N635I;ENSP00000421011:N602I;ENSP00000421067:N635I;ENSP00000424722:N671I;ENSP00000378044:N656I;ENSP00000349588:N656I;ENSP00000264366:N656I	ENSP00000264366:N656I	N	+	2	0	ANK2	114423365	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.405000	0.80007	2.031000	0.59945	0.533000	0.62120	AAC		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	NM_001148		4:114203916
PLXNB2	23654	broad.mit.edu	37	22	50720348	50720348	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50720348C>A	ENST00000449103.1	-	20	3420	c.3280G>T	c.(3280-3282)Gac>Tac	p.D1094Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1094Y|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1094					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGGTGGGGTCAGGCACGTAC	0.637																																						ENST00000449103.1		NA																	0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3280-3282)Gac>Tac		plexin B2							49.0	56.0	54.0					22																	50720348		2045	4174	6219	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720348C>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3280G>T	22.37:g.50720348C>A	ENSP00000409171:p.Asp1094Tyr	False	False		Somatic	0				PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1094Y	p.D1094Y			WXS	Illumina HiSeq	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	20	3420	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1094					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.3280G>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508777	0.44660	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.63744	-0.06;-0.06	4.63	4.63	0.57726	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.257954	0.27554	N	0.018860	T	0.77579	0.4151	M	0.72353	2.195	0.58432	D	0.999993	D	0.76494	0.999	D	0.65443	0.935	T	0.80991	-0.1135	10	0.87932	D	0	.	17.6605	0.88192	0.0:1.0:0.0:0.0	.	1094	O15031	PLXB2_HUMAN	Y	1094	ENSP00000409171:D1094Y;ENSP00000352288:D1094Y	ENSP00000352288:D1094Y	D	-	1	0	PLXNB2	49062475	0.989000	0.36119	0.992000	0.48379	0.767000	0.43475	2.830000	0.48136	2.410000	0.81850	0.313000	0.20887	GAC		0.637	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	0	NM_012401		22:50720348
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1		NA																	6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)		NA																																														0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1111	+			NA						RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29110438
PANK3	79646	broad.mit.edu	37	5	167995848	167995848	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:167995848C>T	ENST00000239231.6	-	2	500	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	62					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TCCCGAATGCCGGTGGATCCA	0.418																																						ENST00000239231.6		NA																	0				NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(184-186)Ggc>Agc		pantothenate kinase 3							144.0	138.0	140.0					5																	167995848		2203	4300	6503	SO:0001583	missense	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167995848C>T	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.184G>A	5.37:g.167995848C>T	ENSP00000239231:p.Gly62Ser	False	False		Somatic	0					p.G62S	NM_024594.3	NP_078870.1	WXS	Illumina HiSeq	Phase_I	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	2	500	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	62					D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	c.184G>A	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205975	0.95033	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.98419	-4.92;-4.92	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99271	1.0893	10	0.46703	T	0.11	-14.8448	19.0666	0.93114	0.0:1.0:0.0:0.0	.	62	Q9H999	PANK3_HUMAN	S	62;47	ENSP00000239231:G62S;ENSP00000428631:G47S	ENSP00000239231:G62S	G	-	1	0	PANK3	167928426	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GGC		0.418	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	0	NM_024594		5:167995848
GABRQ	55879	broad.mit.edu	37	X	151821056	151821056	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:151821056C>T	ENST00000370306.2	+	9	1231	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	404					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCACCCCAGCGCAGGCCCCC	0.582																																						ENST00000370306.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1210-1212)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, theta							67.0	64.0	65.0					X																	151821056		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821056C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1211C>T	X.37:g.151821056C>T	ENSP00000359329:p.Ala404Val	False	False		Somatic	0					p.A404V	NM_018558.2	NP_061028.3	WXS	Illumina HiSeq	Phase_I	Q9UN88	GBRT_HUMAN			9	1231	+	Acute lymphoblastic leukemia(192;6.56e-05)		404					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1211C>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155193	0.38021	.	.	ENSG00000147402	ENST00000370306	D	0.85556	-2.0	4.59	-3.96	0.04106	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.728271	0.11312	N	0.577006	T	0.63271	0.2497	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.50651	-0.8803	10	0.18276	T	0.48	.	1.1737	0.01831	0.1361:0.3019:0.2665:0.2954	.	404	Q9UN88	GBRT_HUMAN	V	404	ENSP00000359329:A404V	ENSP00000359329:A404V	A	+	2	0	GABRQ	151571712	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	0.022000	0.13511	-0.993000	0.03467	0.600000	0.82982	GCG		0.582	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	0	NM_018558		X:151821056
ZBED4	9889	broad.mit.edu	37	22	50278645	50278645	+	Silent	SNP	C	C	T	rs141708563	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50278645C>T	ENST00000216268.5	+	2	1812	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	445						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AATCTGGCGCCATCTTCCAGC	0.557																																						ENST00000216268.5		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1333-1335)gcC>gcT		zinc finger, BED-type containing 4		C		0,4406		0,0,2203	66.0	71.0	69.0		1335	-10.6	0.0	22	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZBED4	NM_014838.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		445/1172	50278645	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278645C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1335C>T	22.37:g.50278645C>T		False	False		Somatic	0					p.A445A	NM_014838.2	NP_055653.2	WXS	Illumina HiSeq	Phase_I	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1812	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	NA					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.1335C>T	CCDS33677.1																																																																																				0.557	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	0	NM_014838		22:50278645
ARHGAP15	55843	broad.mit.edu	37	2	144525606	144525606	+	Silent	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:144525606G>T	ENST00000295095.6	+	14	1460	c.1293G>T	c.(1291-1293)ggG>ggT	p.G431G	CTD-2252P21.1_ENST00000548756.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	431	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAGCTTGGGGATTGTATTTG	0.453																																						ENST00000295095.6		NA																	0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1291-1293)ggG>ggT		Rho GTPase activating protein 15							132.0	128.0	130.0					2																	144525606		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144525606G>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1293G>T	2.37:g.144525606G>T		True	False		Somatic	0				CTD-2252P21.1_ENST00000548756.1_RNA	p.G431G	NM_018460.3	NP_060930.3	WXS	Illumina HiSeq	Phase_I	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	14	1460	+			431			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.1293G>T	CCDS2184.1																																																																																				0.453	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	0	NM_018460		2:144525606
PIP4K2A	5305	broad.mit.edu	37	10	22896891	22896891	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:22896891G>A	ENST00000376573.4	-	3	532	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R43W|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	102	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.			LRE -> CGK (in Ref. 3; AAB35041). {ECO:0000305}.	megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AACCTCTCCCGCAGGTTACGG	0.448																																						ENST00000376573.4		NA																	0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(304-306)Cgg>Tgg		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							96.0	88.0	91.0					10																	22896891		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22896891G>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.304C>T	10.37:g.22896891G>A	ENSP00000365757:p.Arg102Trp	True	False		Somatic	0				PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R43W|PIP4K2A_ENST00000422321.1_5'UTR	p.R102W	NM_005028.4	NP_005019.2	WXS	Illumina HiSeq	Phase_I	P48426	PI42A_HUMAN			3	532	-			102	LRE -> CGK (in Ref. 3; AAB35041).		PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.304C>T	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061259	0.76187	.	.	ENSG00000150867	ENST00000376573;ENST00000545335;ENST00000422321;ENST00000376565;ENST00000432610	T;T	0.59772	0.24;0.24	5.57	-0.745	0.11098	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.222342	0.43747	D	0.000525	D	0.83991	0.5374	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90747	0.4654	10	0.87932	D	0	-18.1539	17.1895	0.86875	0.0:0.0:0.3371:0.6629	.	102	P48426	PI42A_HUMAN	W	102;43;54;61;54	ENSP00000365757:R102W;ENSP00000442098:R43W	ENSP00000365749:R61W	R	-	1	2	PIP4K2A	22936897	0.895000	0.30542	0.999000	0.59377	0.992000	0.81027	0.273000	0.18662	0.178000	0.19917	-0.182000	0.12963	CGG		0.448	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	0	NM_005028		10:22896891
NBPF9	400818	broad.mit.edu	37	1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						ENST00000440491.2		NA																	0				NS(2)|prostate(1)	3						c.(1366-1368)tgG>tgT		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys	False	False		Somatic	0				NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	p.W456C	NM_001037675.2	NP_001032764.2	WXS	Illumina HiSeq	Phase_I					11	1368	+			NA						Missense_Mutation	SNP	ENST00000440491.2	37	c.1368G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		0	NM_001037675		1:144825416
HMX3	340784	broad.mit.edu	37	10	124895877	124895877	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:124895877C>T	ENST00000357878.5	+	1	400	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	104					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CAGAGGTTTGCCCTGCCCGCG	0.731																																						ENST00000357878.5		NA																	0				lung(4)	4						c.(310-312)gCc>gTc		H6 family homeobox 3							11.0	15.0	14.0					10																	124895877		1956	4126	6082	SO:0001583	missense	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124895877C>T		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.311C>T	10.37:g.124895877C>T	ENSP00000350549:p.Ala104Val	True	False		Somatic	0					p.A104V	NM_001105574.1	NP_001099044.1	WXS	Illumina HiSeq	Phase_I	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	1	400	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	104					A8MU06	Missense_Mutation	SNP	ENST00000357878.5	37	c.311C>T	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331198	0.60853	.	.	ENSG00000188620	ENST00000357878	D	0.91843	-2.92	4.01	4.01	0.46588	.	0.196683	0.42821	D	0.000649	D	0.86481	0.5943	N	0.24115	0.695	0.41786	D	0.989841	P	0.47762	0.9	B	0.42282	0.382	D	0.86231	0.1637	10	0.31617	T	0.26	.	15.6906	0.77450	0.0:1.0:0.0:0.0	.	104	A6NHT5	HMX3_HUMAN	V	104	ENSP00000350549:A104V	ENSP00000350549:A104V	A	+	2	0	HMX3	124885867	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.500000	0.53318	1.748000	0.51833	0.460000	0.39030	GCC		0.731	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	0	XM_291716		10:124895877
REPS2	9185	broad.mit.edu	37	X	17153512	17153512	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:17153512G>A	ENST00000357277.3	+	16	1962	c.1791G>A	c.(1789-1791)ccG>ccA	p.P597P	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Silent_p.P396P|REPS2_ENST00000303843.7_Silent_p.P596P	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	597	Interaction with ASAP1. {ECO:0000250}.|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CCATGAAACCGCATCCAACAG	0.463																																						ENST00000357277.3		NA																	0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17						c.(1789-1791)ccG>ccA		RALBP1 associated Eps domain containing 2							140.0	134.0	136.0					X																	17153512		2203	4299	6502	SO:0001819	synonymous_variant	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17153512G>A	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1791G>A	X.37:g.17153512G>A		False	False		Somatic	0				REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Silent_p.P596P|REPS2_ENST00000380064.4_Silent_p.P396P	p.P597P	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	WXS	Illumina HiSeq	Phase_I	Q8NFH8	REPS2_HUMAN			16	1962	+	Hepatocellular(33;0.183)		597			Interaction with ASAP1 (By similarity).|Interaction with RALBP1.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Silent	SNP	ENST00000357277.3	37	c.1791G>A	CCDS14180.2																																																																																				0.463	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	0	NM_004726		X:17153512
PLEKHG2	64857	broad.mit.edu	37	19	39907611	39907611	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:39907611C>T	ENST00000409794.3	+	7	1565	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R239C|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R180C	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	239	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTGTCCAGCGCATTCTCAA	0.647																																						ENST00000425673.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(715-717)Cgc>Tgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							29.0	30.0	30.0					19																	39907611		2199	4298	6497	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39907611C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.715C>T	19.37:g.39907611C>T	ENSP00000386733:p.Arg239Cys	False	False		Somatic	0				PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R239C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R180C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R239C	p.R239C			WXS	Illumina HiSeq	Phase_I	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		7	1040	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		239			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.715C>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230956	0.79688	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	4.8	4.8	0.61643	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000003	D	0.96426	0.8834	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.981;0.91;0.994;0.997	D	0.97972	1.0344	10	0.87932	D	0	.	17.1606	0.86802	0.0:1.0:0.0:0.0	.	239;239;180;239	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.;PKHG2_HUMAN;.;.	C	239;239;239;180;239	ENSP00000386733:R239C;ENSP00000392906:R239C;ENSP00000367812:R239C;ENSP00000408857:R180C;ENSP00000386492:R239C	ENSP00000367812:R239C	R	+	1	0	PLEKHG2	44599451	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.587000	0.36622	2.670000	0.90874	0.407000	0.27541	CGC		0.647	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	0	NM_022835		19:39907611
LATS1	9113	broad.mit.edu	37	6	150001515	150001515	+	Missense_Mutation	SNP	T	T	C	rs200431329		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:150001515T>C	ENST00000543571.1	-	5	2636	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G	LATS1_ENST00000253339.5_Missense_Mutation_p.R697G|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATTTTAGCCCTTTTAAGACGG	0.363																																						ENST00000543571.1		NA																	0				central_nervous_system(1)|lung(5)	6						c.(2089-2091)Agg>Ggg		large tumor suppressor kinase 1							94.0	101.0	98.0					6																	150001515		2202	4300	6502	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001515T>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2089A>G	6.37:g.150001515T>C	ENSP00000437550:p.Arg697Gly	True	False		Somatic	0				LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R697G	p.R697G	NM_004690.3	NP_004681.1	WXS	Illumina HiSeq	Phase_I	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2636	-		Ovarian(120;0.0164)	697						Missense_Mutation	SNP	ENST00000543571.1	37	c.2089A>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909805	0.72983	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.68025	-0.3;-0.3	5.64	5.64	0.86602	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000004	T	0.70029	0.3177	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69595	-0.5103	9	.	.	.	.	16.1449	0.81559	0.0:0.0:0.0:1.0	.	697	O95835	LATS1_HUMAN	G	697	ENSP00000437550:R697G;ENSP00000253339:R697G	.	R	-	1	2	LATS1	150043208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.103000	0.71492	2.269000	0.75478	0.455000	0.32223	AGG		0.363	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	0	NM_004690		6:150001515
SLC5A12	159963	broad.mit.edu	37	11	26725427	26725427	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:26725427G>A	ENST00000396005.3	-	5	902	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	198					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGAGAACCGTTAAGAAGCC	0.403																																						ENST00000396005.3		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(592-594)aCg>aTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							235.0	215.0	222.0					11																	26725427		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725427G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.593C>T	11.37:g.26725427G>A	ENSP00000379326:p.Thr198Met	False	False		Somatic	0				SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	p.T198M	NM_178498.3	NP_848593.2	WXS	Illumina HiSeq	Phase_I	Q1EHB4	SC5AC_HUMAN			5	902	-			198					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.593C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161956	0.78226	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88046	-2.33;-2.33;-2.33	5.16	5.16	0.70880	.	0.058040	0.64402	D	0.000003	D	0.91212	0.7231	L	0.46670	1.46	0.39532	D	0.968674	D;D	0.69078	0.978;0.997	P;D	0.67725	0.707;0.953	D	0.92534	0.6036	10	0.72032	D	0.01	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	198;198	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	M	198;198;10	ENSP00000379326:T198M;ENSP00000280467:T198M;ENSP00000435053:T10M	ENSP00000280467:T198M	T	-	2	0	SLC5A12	26682003	1.000000	0.71417	0.936000	0.37596	0.978000	0.69477	7.957000	0.87870	2.412000	0.81896	0.484000	0.47621	ACG		0.403	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	0	NM_178498		11:26725427
ZC3H11A	9877	broad.mit.edu	37	1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAACTAATATGGGAGATT	0.473																																						ENST00000545588.1		NA																	0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2329-2331)aTa>aCa		zinc finger CCCH-type containing 11A							55.0	56.0	56.0					1																	203821424		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821424T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr	False	False		Somatic	0				ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T	p.I777T	NM_001271675.1	NP_001258604.1	WXS	Illumina HiSeq	Phase_I	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6157	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		777					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2330T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA		0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	0	NM_014827		1:203821424
OR14K1	343170	broad.mit.edu	37	1	247902703	247902703	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:247902703G>C	ENST00000283225.2	+	1	787	c.787G>C	c.(787-789)Gat>Cat	p.D263H	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GCCAGGGTCTGATGCACCTTC	0.438																																						ENST00000283225.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(787-789)Gat>Cat		olfactory receptor, family 14, subfamily K, member 1							137.0	128.0	131.0					1																	247902703		2022	4181	6203	SO:0001583	missense	343170							g.chr1:247902703G>C	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.787G>C	1.37:g.247902703G>C	ENSP00000283225:p.Asp263His	False	False		Somatic	0				RP11-634B7.4_ENST00000449298.1_RNA	p.D263H			WXS	Illumina HiSeq	Phase_I					1	787	+			NA					A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.787G>C		.	.	.	.	.	.	.	.	.	.	G	10.28	1.307894	0.23821	.	.	ENSG00000153230	ENST00000283225	T	0.00099	8.73	3.9	-1.38	0.09027	.	0.674572	0.11751	U	0.533076	T	0.00144	0.0004	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14476	-1.0471	7	0.41790	T	0.15	.	9.3862	0.38345	0.668:0.0:0.332:0.0	.	.	.	.	H	263	ENSP00000283225:D263H	ENSP00000283225:D263H	D	+	1	0	OR14K1	245969326	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.015000	0.12634	-0.199000	0.10317	0.609000	0.83330	GAT		0.438	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	0	NM_001004732		1:247902703
OR1N2	138882	broad.mit.edu	37	9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517																																						ENST00000373688.2		NA																	0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(709-711)cGc>cAc		olfactory receptor, family 1, subfamily N, member 2							252.0	239.0	243.0					9																	125316158		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316158G>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.710G>A	9.37:g.125316158G>A	ENSP00000362792:p.Arg237His	False	False		Somatic	0					p.R237H	NM_001004457.1	NP_001004457.1	WXS	Illumina HiSeq	Phase_I	Q8NGR9	OR1N2_HUMAN			1	768	+			237		R -> C (in dbSNP:rs41316976).			A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.710G>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577288	0.03854	.	.	ENSG00000171501	ENST00000373688	T	0.00107	8.72	4.56	-0.82	0.10826	GPCR, rhodopsin-like superfamily (1);	0.976894	0.08366	N	0.956924	T	0.00109	0.0003	N	0.17594	0.5	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.01225	-1.1413	10	0.28530	T	0.3	.	4.6663	0.12668	0.5603:0.0:0.2724:0.1672	.	237	Q8NGR9	OR1N2_HUMAN	H	237	ENSP00000362792:R237H	ENSP00000362792:R237H	R	+	2	0	OR1N2	124355979	0.000000	0.05858	0.004000	0.12327	0.987000	0.75469	-2.545000	0.00933	-0.028000	0.13850	0.644000	0.83932	CGC		0.517	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2	0			9:125316158
RNF13	11342	broad.mit.edu	37	3	149570341	149570341	+	Silent	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:149570341C>T	ENST00000344229.3	+	4	855	c.153C>T	c.(151-153)ctC>ctT	p.L51L	RNF13_ENST00000392894.3_Silent_p.L51L|ANKUB1_ENST00000473672.1_5'Flank	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	51					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGATGACCTCCCTGCAAGAT	0.274																																						ENST00000344229.3		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(151-153)ctC>ctT		ring finger protein 13							63.0	62.0	62.0					3																	149570341		2203	4295	6498	SO:0001819	synonymous_variant	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149570341C>T	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.153C>T	3.37:g.149570341C>T		True	False		Somatic	0				RNF13_ENST00000392894.3_Silent_p.L51L	p.L51L	NM_007282.4	NP_009213.1	WXS	Illumina HiSeq	Phase_I	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		4	855	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	51					A6NC87|B3KR12|Q05D66|Q6IBJ9	Silent	SNP	ENST00000344229.3	37	c.153C>T	CCDS3146.1																																																																																				0.274	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	0	NM_183384		3:149570341
TRIP12	9320	broad.mit.edu	37	2	230643255	230643255	+	Missense_Mutation	SNP	G	G	A	rs376235388		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:230643255G>A	ENST00000283943.5	-	35	5211	c.5033C>T	c.(5032-5034)gCg>gTg	p.A1678V	TRIP12_ENST00000389045.3_Missense_Mutation_p.A1408V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1726V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1678					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAAGGGAAGCGCAAACAGGCC	0.428																																						ENST00000283943.5		NA																	0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5032-5034)gCg>gTg		thyroid hormone receptor interactor 12		G	VAL/ALA	0,4406		0,0,2203	128.0	126.0	127.0		5033	4.2	0.9	2		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIP12	NM_004238.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1678/1993	230643255	1,13005	2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230643255G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5033C>T	2.37:g.230643255G>A	ENSP00000283943:p.Ala1678Val	False	False		Somatic	0				TRIP12_ENST00000389044.4_Missense_Mutation_p.A1726V|TRIP12_ENST00000389045.3_Missense_Mutation_p.A1408V	p.A1678V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	WXS	Illumina HiSeq	Phase_I	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	35	5211	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1678					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5033C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749186	0.89753	0.0	1.16E-4	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.57595	0.39;0.39;0.39	5.94	4.15	0.48705	HECT (4);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.28400	0.85	0.80722	D	1	B;B;B	0.16603	0.018;0.007;0.007	B;B;B	0.12837	0.008;0.008;0.008	T	0.29549	-1.0008	10	0.87932	D	0	.	12.7208	0.57142	0.1333:0.0:0.8667:0.0	.	1408;1726;1678	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	1678;1408;1726	ENSP00000283943:A1678V;ENSP00000373697:A1408V;ENSP00000373696:A1726V	ENSP00000283943:A1678V	A	-	2	0	TRIP12	230351499	1.000000	0.71417	0.944000	0.38274	0.986000	0.74619	9.355000	0.97087	0.845000	0.35118	0.591000	0.81541	GCG		0.428	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	0	NM_004238		2:230643255
ETNK2	55224	broad.mit.edu	37	1	204115868	204115868	+	Missense_Mutation	SNP	C	C	G			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:204115868C>G	ENST00000367202.4	-	3	693	c.543G>C	c.(541-543)aaG>aaC	p.K181N	ETNK2_ENST00000367198.2_Missense_Mutation_p.K3N|ETNK2_ENST00000367201.3_Missense_Mutation_p.K181N|ETNK2_ENST00000367199.2_Intron	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	181					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TAGTATGAATCTTTGCCATTT	0.507																																						ENST00000367202.4		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(541-543)aaG>aaC		ethanolamine kinase 2							139.0	119.0	126.0					1																	204115868		2203	4300	6503	SO:0001583	missense	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204115868C>G	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.543G>C	1.37:g.204115868C>G	ENSP00000356170:p.Lys181Asn	True	False		Somatic	0				ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367198.2_Missense_Mutation_p.K3N|ETNK2_ENST00000367201.3_Missense_Mutation_p.K181N	p.K181N	NM_018208.2	NP_060678.2	WXS	Illumina HiSeq	Phase_I	Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	693	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		181					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	c.543G>C	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434087	0.62955	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.34	3.33	0.38152	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.225367	0.44902	D	0.000408	T	0.68238	0.2979	M	0.79926	2.475	0.36731	D	0.881739	P;D	0.56035	0.792;0.974	P;P	0.56343	0.542;0.796	T	0.75184	-0.3407	10	0.54805	T	0.06	-18.004	8.4404	0.32812	0.0:0.7574:0.0:0.2426	.	181;181	Q9NVF9;Q9NVF9-2	EKI2_HUMAN;.	N	181;181;47;3;47;38	ENSP00000356169:K181N;ENSP00000356170:K181N;ENSP00000356166:K3N;ENSP00000405497:K47N;ENSP00000398091:K38N	ENSP00000356166:K3N	K	-	3	2	ETNK2	202382491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.667000	0.25112	1.489000	0.48450	0.655000	0.94253	AAG		0.507	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	0	NM_018208		1:204115868
CXXC1	30827	broad.mit.edu	37	18	47809025	47809025	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr18:47809025G>A	ENST00000285106.6	-	15	2623	c.1909C>T	c.(1909-1911)Ctg>Ttg	p.L637L	MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|CXXC1_ENST00000589940.1_3'UTR|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000585595.1_5'Flank|CXXC1_ENST00000412036.2_Silent_p.L641L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	637					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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GTCTGGTGCAGCATCAGGGCC	0.637																																						ENST00000285106.6		NA																	0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1909-1911)Ctg>Ttg		CXXC finger protein 1							123.0	105.0	111.0					18																	47809025		2203	4300	6503	SO:0001819	synonymous_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47809025G>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1909C>T	18.37:g.47809025G>A		False	False		Somatic	0				CXXC1_ENST00000589940.1_3'UTR|CXXC1_ENST00000412036.2_Silent_p.L641L	p.L637L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	WXS	Illumina HiSeq	Phase_I	Q9P0U4	CXXC1_HUMAN			15	2623	-			637					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	c.1909C>T	CCDS11945.1																																																																																				0.637	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	0	NM_014593		18:47809025
HIST1H3I	8354	broad.mit.edu	37	6	27839811	27839811	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:27839811C>T	ENST00000328488.2	-	1	288	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	95					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCGCAAGCCTCCTGCAGCGCC	0.562																																						ENST00000328488.2		NA																	0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(283-285)Gag>Aag		histone cluster 1, H3i							86.0	92.0	90.0					6																	27839811		2203	4300	6503	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839811C>T	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.283G>A	6.37:g.27839811C>T	ENSP00000329554:p.Glu95Lys	False	False		Somatic	0					p.E95K	NM_003533.2	NP_003524.1	WXS	Illumina HiSeq	Phase_I	P68431	H31_HUMAN			1	288	-			95					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.283G>A	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104290	0.76983	.	.	ENSG00000182572	ENST00000328488	T	0.70749	-0.51	4.12	4.12	0.48240	.	.	.	.	.	T	0.78220	0.4249	.	.	.	0.45150	D	0.998168	.	.	.	.	.	.	T	0.81304	-0.0993	6	0.87932	D	0	.	16.6345	0.85043	0.0:1.0:0.0:0.0	.	.	.	.	K	95	ENSP00000329554:E95K	ENSP00000329554:E95K	E	-	1	0	HIST1H3I	27947790	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.370000	0.79589	2.580000	0.87095	0.650000	0.86243	GAG		0.562	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	0	NM_003533		6:27839811
