#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-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron	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-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	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
MNT	4335	broad.mit.edu	37	17	2297598	2297599	+	Splice_Site	INS	-	-	ACACACACACA			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:2297598_2297599insACACACACACA	ENST00000174618.4	-	3	1100_1101		c.e3+1		MNT_ENST00000575374.1_5'Flank|MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor						cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		cacacacacacCTGTTCTTCTC	0.634																																						ENST00000174618.4		NA																	0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.e3+1		MAX network transcriptional repressor																																				SO:0001630	splice_region_variant	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2297598_2297599insACACACACACA	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.695+1->TGTGTGTGTGT	17.37:g.2297598_2297599insACACACACACA		True	False		Somatic	0						NM_020310.2	NP_064706.1	WXS	Illumina HiSeq	Phase_I	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	3	1100_1101	-			NA					A8K6D1|D3DTI7|Q1ED38	Splice_Site	INS	ENST00000174618.4	37		CCDS11018.1																																																																																				0.634	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	0	NM_020310	Intron	17:2297598
SLC16A5	9121	broad.mit.edu	37	17	73100117	73100119	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:73100117_73100119delCTT	ENST00000450736.2	+	5	1621_1623	c.1206_1208delCTT	c.(1204-1209)agcttc>agc	p.F404del	SLC16A5_ENST00000538213.2_In_Frame_Del_p.F444del|SLC16A5_ENST00000580123.1_In_Frame_Del_p.F404del|SLC16A5_ENST00000329783.4_In_Frame_Del_p.F404del			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	404					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	ACATGTCCAGCTTCTTCCTCATC	0.581																																						ENST00000450736.2		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1204-1209)agcttc>agc		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)																																			SO:0001651	inframe_deletion	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73100117_73100119delCTT	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1206_1208delCTT	17.37:g.73100120_73100122delCTT	ENSP00000390564:p.Phe404del	False	False		Somatic	2				SLC16A5_ENST00000538213.2_In_Frame_Del_p.F444del|SLC16A5_ENST00000329783.4_In_Frame_Del_p.F404del|SLC16A5_ENST00000580123.1_In_Frame_Del_p.F404del	p.F404del			WXS	Illumina HiSeq	Phase_I	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		5	1621_1623	+	all_lung(278;0.226)		404					B4E288	In_Frame_Del	DEL	ENST00000450736.2	37	c.1206_1208delCTT	CCDS11713.1																																																																																				0.581	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	0	NM_004695		17:73100117
FFAR2	2867	broad.mit.edu	37	19	35941577	35941578	+	Frame_Shift_Ins	INS	-	-	AGAAATA			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:35941577_35941578insAGAAATA	ENST00000599180.2	+	2	1041_1042	c.961_962insAGAAATA	c.(961-963)gggfs	p.G321fs	FFAR2_ENST00000246549.2_Frame_Shift_Ins_p.G321fs|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	321					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAAGGAGAAGGGATGCCAAGT	0.594																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(961-963)gggfs		free fatty acid receptor 2																																				SO:0001589	frameshift_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941577_35941578insAGAAATA	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		Exception_encountered	19.37:g.35941577_35941578insAGAAATA	ENSP00000473159:p.Gly321fs	True	False		Somatic	0				FFAR2_ENST00000246549.2_Frame_Shift_Ins_p.G321fs|FFAR2_ENST00000601590.1_Intron	p.G321fs			WXS	Illumina HiSeq	Phase_I	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	1041_1042	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		321					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Frame_Shift_Ins	INS	ENST00000599180.2	37	c.961_962insAGAAATA	CCDS12461.1																																																																																				0.594	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	0	NM_005306		19:35941577
FLVCR1	28982	broad.mit.edu	37	1	213061902	213061903	+	Frame_Shift_Ins	INS	-	-	TACT			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:213061902_213061903insTACT	ENST00000366971.4	+	7	1577_1578	c.1379_1380insTACT	c.(1378-1383)ggtactfs	p.-461fs	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1						blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GAATCTGAAGGTACTTCATCTG	0.361																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1378-1383)ggtactfs		feline leukemia virus subgroup C cellular receptor 1																																				SO:0001589	frameshift_variant	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213061902_213061903insTACT	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1380_1383dupTACT	1.37:g.213061903_213061906dupTACT	ENSP00000355938:p.Thr461fs	False	False		Somatic	1				FLVCR1_ENST00000483790.1_3'UTR	p.-461fs	NM_014053.3	NP_054772.1	WXS	Illumina HiSeq	Phase_I	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	7	1577_1578	+			NA					Q1HE16|Q86XY9|Q9NVR9	Frame_Shift_Ins	INS	ENST00000366971.4	37	c.1379_1380insTACT	CCDS1510.1																																																																																				0.361	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	0	NM_014053		1:213061902
LILRB3	11025	broad.mit.edu	37	19	54723027	54723029	+	In_Frame_Del	DEL	CGT	CGT	-	rs201888124|rs61734492	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	CGT	CGT	-	-	CGT	CGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:54723027_54723029delCGT	ENST00000391750.1	-	9	1531_1533	c.1395_1397delACG	c.(1393-1398)cgacgt>cgt	p.465_466RR>R	LILRB3_ENST00000407860.2_In_Frame_Del_p.482_483RR>R|LILRA6_ENST00000419410.2_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000440558.2_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000270464.5_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000245620.9_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000346401.6_In_Frame_Del_p.477_478RR>R|LILRB3_ENST00000424807.1_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	465					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGCTGACGTCggaggagga	0.606														6	0.00119808	0.0008	0.0	5008	,	,		17374	0.0		0.005	False		,,,				2504	0.0					ENST00000391750.1		NA																	0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1393-1398)cgacgt>cgt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3			,	94,4170		14,66,2052					,	-5.6	0.0			131	715,7539		61,593,3473	no	coding,coding	LILRB3	NM_006864.2,NM_001081450.1	,	75,659,5525	A1A1,A1R,RR		8.6625,2.2045,6.4627	,	,		809,11709				SO:0001651	inframe_deletion	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54723027_54723029delCGT	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1395_1397delACG	19.37:g.54723027_54723029delCGT	ENSP00000375630:p.Arg466del	False	False		Somatic	1				LILRB3_ENST00000424807.1_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000270464.5_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000440558.2_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000245620.9_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000346401.6_In_Frame_Del_p.477_478RR>R|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_In_Frame_Del_p.482_483RR>R	p.465_466RR>R			WXS	Illumina HiSeq	Phase_I	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	9	1531_1533	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		465					C9J1P3|C9JIP1|O15471|Q86U49	In_Frame_Del	DEL	ENST00000391750.1	37	c.1395_1397delACG	CCDS33105.1																																																																																				0.606	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	0	NM_006864		19:54723027
ESX1	80712	broad.mit.edu	37	X	103498998	103499033	+	In_Frame_Del	DEL	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	rs141891783|rs56255243		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	-	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:103498998_103499033delGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	ENST00000372588.4	-	2	391_426	c.308_343delTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCC	c.(307-345)ctgctcgagctgaagcaagagcaggaggagccgccccag>cag	p.LLELKQEQEEPP103del		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	103					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACGGTCGTCTGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCAGGGGCGGCTC	0.712																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4		NA																	0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(307-345)ctgctcgagctgaagcaagagcaggaggagccgccccag>cag		ESX homeobox 1																																				SO:0001651	inframe_deletion	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498998_103499033delGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.308_343delTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCC	X.37:g.103498998_103499033delGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	ENSP00000361669:p.Leu103_Pro114del	False	False		Somatic	1					p.LLELKQEQEEPP103del	NM_153448.3	NP_703149.1	WXS	Illumina HiSeq	Phase_I	Q8N693	ESX1_HUMAN			2	391_426	-			103					B0QYU3|Q7Z6K7	In_Frame_Del	DEL	ENST00000372588.4	37	c.308_343delTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCC	CCDS14516.1																																																																																				0.712	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	0	NM_153448		X:103498998
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
PRSS3	5646	broad.mit.edu	37	9	33796802	33796803	+	Splice_Site	INS	-	-	TGG			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:33796802_33796803insTGG	ENST00000361005.5	+	2	371		c.e2+2		PRSS3_ENST00000379405.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Splice_Site|PRSS3_ENST00000342836.4_Splice_Site	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTACAAGACGTAAGTGTGGGGC	0.594																																						ENST00000361005.5		NA																	0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.e2+2		protease, serine, 3																																				SO:0001630	splice_region_variant	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33796802_33796803insTGG		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.371+2->TGG	9.37:g.33796802_33796803insTGG		False	False		Somatic	0				PRSS3_ENST00000429677.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Splice_Site|PRSS3_ENST00000342836.4_Splice_Site		NM_007343.3	NP_031369.2	WXS	Illumina HiSeq	Phase_I	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		2	371	+			NA					A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Splice_Site	INS	ENST00000361005.5	37		CCDS47958.1																																																																																				0.594	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	0	NM_002771	Intron	9:33796802
ADCY9	115	broad.mit.edu	37	16	4016903	4016903	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:4016903C>T	ENST00000294016.3	-	11	3473	c.2935G>A	c.(2935-2937)Ggc>Agc	p.G979S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	979					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTCCTGGCCGATGAGGCTG	0.582																																						ENST00000294016.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2935-2937)Ggc>Agc		adenylate cyclase 9							59.0	69.0	65.0					16																	4016903		2195	4300	6495	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016903C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2935G>A	16.37:g.4016903C>T	ENSP00000294016:p.Gly979Ser	False	False		Somatic	0					p.G979S	NM_001116.3	NP_001107.2	WXS	Illumina HiSeq	Phase_I	O60503	ADCY9_HUMAN			11	3473	-			979					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2935G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041963	0.55003	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.48	5.48	0.80851	.	0.149249	0.64402	D	0.000011	D	0.82337	0.5015	N	0.22421	0.69	0.51767	D	0.999931	D	0.76494	0.999	P	0.59115	0.852	T	0.76348	-0.2992	10	0.08837	T	0.75	.	19.7084	0.96083	0.0:1.0:0.0:0.0	.	979	O60503	ADCY9_HUMAN	S	979	ENSP00000294016:G979S	ENSP00000294016:G979S	G	-	1	0	ADCY9	3956904	0.998000	0.40836	0.970000	0.41538	0.455000	0.32408	3.763000	0.55257	2.739000	0.93911	0.561000	0.74099	GGC		0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	0			16:4016903
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|E -> K (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1343	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(9)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(150)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD972119	CDKN2A	D		c.(358-360)Gag>Tag		cyclin-dependent kinase inhibitor 2A							24.0	27.0	26.0					9																	21971000		2202	4298	6500	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971000C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.358G>T	9.37:g.21971000C>A	ENSP00000307101:p.Glu120*	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*	p.E120*	NM_000077.4	NP_000068.1	WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	628	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	120		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.358G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.320898	0.97471	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.0988	14.364	0.66792	0.0:0.8518:0.1482:0.0	.	.	.	.	X	120	.	ENSP00000307101:E120X	E	-	1	0	CDKN2A	21961000	0.585000	0.26774	1.000000	0.80357	0.613000	0.37349	1.323000	0.33701	1.489000	0.48450	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21971000
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6		NA																RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		False	False		Somatic	0					p.P780P	NM_006267.4	NP_006258.3	WXS	Illumina HiSeq	Phase_I	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	NM_006267		2:109371498
QRICH2	84074	broad.mit.edu	37	17	74288916	74288916	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:74288916G>A	ENST00000262765.5	-	4	1573	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	465	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						accaggttgggccaaaccaga	0.557																																						ENST00000262765.5		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1393-1395)gCc>gTc		glutamine rich 2							102.0	89.0	93.0					17																	74288916		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288916G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1394C>T	17.37:g.74288916G>A	ENSP00000262765:p.Ala465Val	True	False		Somatic	0					p.A465V	NM_032134.1	NP_115510.1	WXS	Illumina HiSeq	Phase_I	Q9H0J4	QRIC2_HUMAN			4	1573	-			465			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1394C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	-	9.875	1.200097	0.22121	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08370	3.1	5.38	-5.83	0.02325	.	.	.	.	.	T	0.01730	0.0055	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43734	-0.9373	9	0.27082	T	0.32	-3.7961	2.3937	0.04385	0.3394:0.2868:0.2749:0.0989	.	465;465	B5MD94;Q9H0J4	.;QRIC2_HUMAN	V	465	ENSP00000262765:A465V	ENSP00000262765:A465V	A	-	2	0	QRICH2	71800511	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.107000	0.03316	-0.983000	0.03511	-0.272000	0.10252	GCC		0.557	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	0	NM_032134		17:74288916
GRM2	2912	broad.mit.edu	37	3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	rs200502357		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:51743211G>A	ENST00000395052.3	+	2	446	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GRM2_ENST00000442933.2_Missense_Mutation_p.R71H|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	71					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCACTGGACCGCATCAACCGT	0.632																																						ENST00000395052.3		NA																	0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(211-213)cGc>cAc		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						127.0	115.0	119.0					3																	51743211		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743211G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.212G>A	3.37:g.51743211G>A	ENSP00000378492:p.Arg71His	False	False		Somatic	0				GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R71H	p.R71H	NM_000839.3	NP_000830.2	WXS	Illumina HiSeq	Phase_I	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	446	+			71					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.212G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247197	0.80024	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86497	-2.13;-2.13	5.28	4.41	0.53225	Extracellular ligand-binding receptor (1);	0.167226	0.46758	D	0.000274	T	0.81093	0.4751	L	0.56199	1.76	0.42153	D	0.991563	B	0.28419	0.211	B	0.21917	0.037	T	0.78252	-0.2276	10	0.62326	D	0.03	.	5.1701	0.15105	0.2123:0.1632:0.6245:0.0	.	71	Q14416	GRM2_HUMAN	H	71	ENSP00000378492:R71H;ENSP00000408906:R71H	ENSP00000296479:R71H	R	+	2	0	GRM2	51718251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.691000	0.54720	1.245000	0.43885	-0.137000	0.14449	CGC		0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1	0			3:51743211
APLP1	333	broad.mit.edu	37	19	36362933	36362933	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:36362933G>A	ENST00000221891.4	+	6	1037	c.845G>A	c.(844-846)gGc>gAc	p.G282D	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000537454.2_Missense_Mutation_p.G243D|APLP1_ENST00000586861.1_Missense_Mutation_p.G276D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	282					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGTGGTCGGCAAAGGTGAG	0.582																																						ENST00000221891.4		NA																	0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(844-846)gGc>gAc		amyloid beta (A4) precursor-like protein 1							82.0	86.0	85.0					19																	36362933		2202	4300	6502	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362933G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.845G>A	19.37:g.36362933G>A	ENSP00000221891:p.Gly282Asp	False	False		Somatic	0				APLP1_ENST00000537454.2_Missense_Mutation_p.G243D|APLP1_ENST00000586861.1_Missense_Mutation_p.G276D	p.G282D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	WXS	Illumina HiSeq	Phase_I	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	1037	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		282					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.845G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	9.293	1.051168	0.19827	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.93659	-3.18;-3.26	4.71	3.66	0.41972	.	0.353444	0.24920	N	0.034547	D	0.83764	0.5325	N	0.14661	0.345	0.09310	N	0.99999	B;B;B;B	0.22211	0.001;0.066;0.002;0.0	B;B;B;B	0.18871	0.002;0.023;0.001;0.002	T	0.68629	-0.5358	10	0.15066	T	0.55	-6.6187	9.3172	0.37941	0.1058:0.0:0.8942:0.0	.	276;243;282;282	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	D	243;282	ENSP00000441501:G243D;ENSP00000221891:G282D	ENSP00000221891:G282D	G	+	2	0	APLP1	41054773	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	0.525000	0.22956	2.171000	0.68590	0.462000	0.41574	GGC		0.582	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	0	NM_001024807		19:36362933
PGBD5	79605	broad.mit.edu	37	1	230461101	230461101	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:230461101G>A	ENST00000525115.1	-	6	1150	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.A330V|PGBD5_ENST00000321327.2_Missense_Mutation_p.A475V			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	376						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CAGGTGAGCGGCAAACGCCTC	0.547																																						ENST00000321327.2		NA																	0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1423-1425)gCc>gTc		piggyBac transposable element derived 5							260.0	230.0	240.0					1																	230461101		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230461101G>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1127C>T	1.37:g.230461101G>A	ENSP00000431404:p.Ala376Val	False	False		Somatic	0				PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.A330V|PGBD5_ENST00000525115.1_Missense_Mutation_p.A376V	p.A475V			WXS	Illumina HiSeq	Phase_I	Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	8	1423	-	Breast(184;0.0397)	Prostate(94;0.167)	376					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.1424C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.128349	0.94473	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.17370	2.28;2.28;2.28	5.17	5.17	0.71159	.	0.050861	0.85682	D	0.000000	T	0.29190	0.0726	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03761	-1.1006	10	0.25106	T	0.35	-15.5767	19.0983	0.93263	0.0:0.0:1.0:0.0	.	376;66	Q8N414;B4DM72	PGBD5_HUMAN;.	V	330;475;376	ENSP00000375733:A330V;ENSP00000322530:A475V;ENSP00000431404:A376V	ENSP00000322530:A475V	A	-	2	0	PGBD5	228527724	1.000000	0.71417	0.678000	0.29963	0.984000	0.73092	9.778000	0.99011	2.598000	0.87819	0.555000	0.69702	GCC		0.547	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	0	NM_024554		1:230461101
ABHD8	79575	broad.mit.edu	37	19	17405196	17405196	+	Silent	SNP	G	G	A	rs536645024		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:17405196G>A	ENST00000247706.3	-	4	1289	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	350							hydrolase activity (GO:0016787)	p.G350G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGACCTCGTCGCCCTCGGGCC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16753	0.001		0.0	False		,,,				2504	0.0				Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3		NA																	1	Substitution - coding silent(1)	p.G350G(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1048-1050)ggC>ggT		abhydrolase domain containing 8							125.0	98.0	107.0					19																	17405196		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17405196G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1050C>T	19.37:g.17405196G>A		True	False		Somatic	0				MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.G350G	NM_024527.4	NP_078803.4	WXS	Illumina HiSeq	Phase_I	Q96I13	ABHD8_HUMAN			4	1289	-			350					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.1050C>T	CCDS12355.1																																																																																				0.612	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	0	NM_024527		19:17405196
RASIP1	54922	broad.mit.edu	37	19	49232704	49232704	+	Silent	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:49232704G>A	ENST00000222145.4	-	5	1527	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	441					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CAGGGCCCGCGCGCACTGTGC	0.741																																						ENST00000222145.4		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1321-1323)cgC>cgT		Ras interacting protein 1							7.0	7.0	7.0					19																	49232704		2143	4164	6307	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49232704G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1323C>T	19.37:g.49232704G>A		True	False		Somatic	0					p.R441R	NM_017805.2	NP_060275.2	WXS	Illumina HiSeq	Phase_I	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	5	1527	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	441					Q6U676	Silent	SNP	ENST00000222145.4	37	c.1323C>T	CCDS12731.1																																																																																				0.741	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	0	NM_017805		19:49232704
MICU1	10367	broad.mit.edu	37	10	74310995	74310995	+	Silent	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr10:74310995C>T	ENST00000361114.5	-	4	531	c.435G>A	c.(433-435)gtG>gtA	p.V145V	MICU1_ENST00000398761.4_Silent_p.V145V|MICU1_ENST00000401998.3_Silent_p.V145V	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	145					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										GTGTCATAAACACTTCTGCTT	0.388																																						ENST00000398761.4		NA																	0					NA						c.(433-435)gtG>gtA		mitochondrial calcium uptake 1							111.0	104.0	106.0					10																	74310995		1885	4115	6000	SO:0001819	synonymous_variant	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74310995C>T	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.435G>A	10.37:g.74310995C>T		True	False		Somatic	0				MICU1_ENST00000401998.3_Silent_p.V145V|MICU1_ENST00000361114.5_Silent_p.V145V	p.V145V			WXS	Illumina HiSeq	Phase_I	Q9BPX6	MICU1_HUMAN			4	567	-			145					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	ENST00000361114.5	37	c.435G>A	CCDS55715.1																																																																																				0.388	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	0	NM_006077		10:74310995
CHRNA1	1134	broad.mit.edu	37	2	175612881	175612881	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:175612881G>A	ENST00000261007.5	-	10	1486	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.R367*|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.R369*|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Nonsense_Mutation_p.R449*	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	474					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TCAATGAGTCGACCTGCAAAC	0.502																																						ENST00000348749.5		NA																	0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(1345-1347)Cga>Tga		cholinergic receptor, nicotinic, alpha 1 (muscle)							97.0	89.0	92.0					2																	175612881		2203	4300	6503	SO:0001587	stop_gained	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175612881G>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1420C>T	2.37:g.175612881G>A	ENSP00000261007:p.Arg474*	False	False		Somatic	0				CHRNA1_ENST00000261007.5_Nonsense_Mutation_p.R474*|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.R369*|CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.R367*	p.R449*	NM_000079.3	NP_000070.1	WXS	Illumina HiSeq	Phase_I	P02708	ACHA_HUMAN			9	1422	-			474					B4DRV6|D3DPE8	Nonsense_Mutation	SNP	ENST00000261007.5	37	c.1345C>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.913560	0.97099	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	.	.	.	5.24	5.24	0.73138	.	0.159217	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.1987	0.93701	0.0:0.0:1.0:0.0	.	.	.	.	X	449;474;367;369	.	ENSP00000261007:R474X	R	-	1	2	CHRNA1	175321127	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.397000	0.73239	2.607000	0.88179	0.655000	0.94253	CGA		0.502	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1	0			2:175612881
ABCA13	154664	broad.mit.edu	37	7	48411864	48411864	+	Missense_Mutation	SNP	G	G	A	rs570952854		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:48411864G>A	ENST00000435803.1	+	33	10927	c.10903G>A	c.(10903-10905)Gtt>Att	p.V3635I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3635					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V3635I(1)|p.V3580I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGGCCATCGTTCTGAAAAC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18714	0.0		0.0	False		,,,				2504	0.0					ENST00000435803.1		NA																	2	Substitution - Missense(2)	p.V3635I(1)|p.V3580I(1)	large_intestine(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10903-10905)Gtt>Att		ATP-binding cassette, sub-family A (ABC1), member 13							230.0	226.0	227.0					7																	48411864		2060	4204	6264	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411864G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10903G>A	7.37:g.48411864G>A	ENSP00000411096:p.Val3635Ile	False	False		Somatic	0					p.V3635I	NM_152701.3	NP_689914.2	WXS	Illumina HiSeq	Phase_I	Q86UQ4	ABCAD_HUMAN			33	10927	+			3635					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10903G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	1.351	-0.591282	0.03799	.	.	ENSG00000179869	ENST00000435803	D	0.87491	-2.26	5.77	-1.16	0.09678	.	0.381500	0.22125	N	0.064274	T	0.55114	0.1900	N	0.00801	-1.175	0.49582	D	0.999804	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.54543	-0.8278	10	0.02654	T	1	.	6.8687	0.24108	0.4762:0.128:0.3958:0.0	.	1337;3635	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	3635	ENSP00000411096:V3635I	ENSP00000411096:V3635I	V	+	1	0	ABCA13	48382410	0.853000	0.29707	0.008000	0.14137	0.914000	0.54420	0.853000	0.27777	-0.342000	0.08363	-0.294000	0.09567	GTT		0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	0	NM_152701		7:48411864
MGAM	8972	broad.mit.edu	37	7	141767225	141767225	+	Intron	SNP	C	C	T	rs7778384	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:141767225C>T	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Splice_Site_p.R1668R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592													c|||	29	0.00579073	0.0121	0.0086	5008	,	,		14537	0.001		0.004	False		,,,				2504	0.002					ENST00000475668.2		NA																	0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(5002-5004)cgC>cgT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						68.0	55.0	59.0					7																	141767225		874	1947	2821	SO:0001627	intron_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141767225C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+1957C>T	7.37:g.141767225C>T		False	False		Somatic	0				MGAM_ENST00000549489.2_Intron	p.R1668R			WXS	Illumina HiSeq	Phase_I	O43451	MGA_HUMAN			42	5058	+	Melanoma(164;0.0272)		1668			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.5004C>T	CCDS47727.1																																																																																				0.592	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3	0			7:141767225
TNKS	8658	broad.mit.edu	37	8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A	rs370349163		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		15309	0.001		0.0	False		,,,				2504	0.0					ENST00000310430.6		NA																	0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3010-3012)Gta>Ata		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		G	ILE/VAL	0,4406		0,0,2203	78.0	82.0	81.0		3010	5.7	0.9	8		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNKS	NM_003747.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1004/1328	9609296	1,13005	2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9609296G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3010G>A	8.37:g.9609296G>A	ENSP00000311579:p.Val1004Ile	False	False		Somatic	0				TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	p.V1004I	NM_003747.2	NP_003738.2	WXS	Illumina HiSeq	Phase_I	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	19	3036	+			1004					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3010G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004279	0.19199	0.0	1.16E-4	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.61859	0.07;0.14	5.73	5.73	0.89815	.	0.331114	0.32055	N	0.006645	T	0.45034	0.1322	N	0.19112	0.55	0.54753	D	0.999982	B	0.16396	0.017	B	0.09377	0.004	T	0.29941	-0.9995	10	0.18276	T	0.48	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	1004	O95271	TNKS1_HUMAN	I	1004;767	ENSP00000311579:V1004I;ENSP00000429890:V767I	ENSP00000311579:V1004I	V	+	1	0	TNKS	9646706	1.000000	0.71417	0.901000	0.35422	0.191000	0.23601	6.449000	0.73473	2.698000	0.92095	0.655000	0.94253	GTA		0.542	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	0	NM_003747		8:9609296
OGFR	11054	broad.mit.edu	37	20	61444872	61444872	+	Silent	SNP	C	C	T	rs369721570		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:61444872C>T	ENST00000290291.6	+	7	1930	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	OGFR_ENST00000370461.1_Silent_p.A583A	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	635	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					ACGAGCCAGCCGAGAGCCCAT	0.736																																						ENST00000370461.1		NA																	0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1747-1749)gcC>gcT		opioid growth factor receptor							11.0	14.0	13.0					20																	61444872		2110	4209	6319	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444872C>T	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1905C>T	20.37:g.61444872C>T		True	False		Somatic	0				OGFR_ENST00000290291.6_Silent_p.A635A	p.A583A			WXS	Illumina HiSeq	Phase_I	Q9NZT2	OGFR_HUMAN			5	4026	+	Breast(26;3.65e-08)		635			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1749C>T	CCDS13504.1																																																																																				0.736	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1	0			20:61444872
NLRP8	126205	broad.mit.edu	37	19	56466968	56466968	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:56466968C>T	ENST00000291971.3	+	3	1615	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	515	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATTTTTTGCGGCCTTGTTT	0.468																																						ENST00000291971.3		NA																	0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1543-1545)gCg>gTg		NLR family, pyrin domain containing 8							192.0	187.0	189.0					19																	56466968		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466968C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1544C>T	19.37:g.56466968C>T	ENSP00000291971:p.Ala515Val	False	False		Somatic	0				NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V	p.A515V	NM_176811.2	NP_789781.2	WXS	Illumina HiSeq	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1615	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	515			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1544C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862872	0.71949	.	.	ENSG00000179709	ENST00000291971	D	0.90504	-2.68	1.92	1.92	0.25849	.	.	.	.	.	D	0.94499	0.8229	M	0.86268	2.805	0.22435	N	0.999104	D;D	0.89917	1.0;1.0	D;D	0.79108	0.968;0.992	D	0.85147	0.0984	9	0.87932	D	0	.	7.3591	0.26735	0.0:1.0:0.0:0.0	.	515;515	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	515	ENSP00000291971:A515V	ENSP00000291971:A515V	A	+	2	0	NLRP8	61158780	0.991000	0.36638	0.010000	0.14722	0.564000	0.35744	3.092000	0.50207	1.389000	0.46526	0.514000	0.50259	GCG		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	0	NM_176811		19:56466968
FOSL2	2355	broad.mit.edu	37	2	28635275	28635275	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:28635275C>T	ENST00000264716.4	+	4	1804	c.941C>T	c.(940-942)tCa>tTa	p.S314L	FOSL2_ENST00000545753.1_Missense_Mutation_p.S275L|FOSL2_ENST00000379619.1_Missense_Mutation_p.S306L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	314					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGGGACCAATCATCAGACTCC	0.622																																						ENST00000264716.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(940-942)tCa>tTa		FOS-like antigen 2							53.0	50.0	51.0					2																	28635275		2203	4300	6503	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28635275C>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.941C>T	2.37:g.28635275C>T	ENSP00000264716:p.Ser314Leu	False	False		Somatic	0				FOSL2_ENST00000545753.1_Missense_Mutation_p.S275L|FOSL2_ENST00000379619.1_Missense_Mutation_p.S306L	p.S314L	NM_005253.3	NP_005244.1	WXS	Illumina HiSeq	Phase_I	P15408	FOSL2_HUMAN			4	1804	+	Acute lymphoblastic leukemia(172;0.155)		314					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.941C>T	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217527	0.95104	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000545753	D;T;D	0.86497	-2.06;-1.13;-2.13	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	M	0.77616	2.38	0.80722	D	1	P	0.47762	0.9	B	0.40602	0.334	D	0.90308	0.4335	10	0.87932	D	0	-0.9556	19.8481	0.96728	0.0:1.0:0.0:0.0	.	314	P15408	FOSL2_HUMAN	L	306;314;275	ENSP00000368939:S306L;ENSP00000264716:S314L;ENSP00000439303:S275L	ENSP00000264716:S314L	S	+	2	0	FOSL2	28488779	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	4.804000	0.62554	2.693000	0.91896	0.655000	0.94253	TCA		0.622	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	0	NM_005253		2:28635275
GPR112	139378	broad.mit.edu	37	X	135429875	135429875	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:135429875C>A	ENST00000394143.1	+	6	4301	c.4010C>A	c.(4009-4011)aCa>aAa	p.T1337K	GPR112_ENST00000394141.1_Missense_Mutation_p.T1132K|GPR112_ENST00000370652.1_Missense_Mutation_p.T1337K|GPR112_ENST00000412101.1_Missense_Mutation_p.T1132K|GPR112_ENST00000287534.4_Missense_Mutation_p.T1274K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1337					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGGAAGCACACAGATTACA	0.463																																						ENST00000394143.1		NA																	0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4009-4011)aCa>aAa		G protein-coupled receptor 112							122.0	105.0	111.0					X																	135429875		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429875C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4010C>A	X.37:g.135429875C>A	ENSP00000377699:p.Thr1337Lys	True	False		Somatic	0				GPR112_ENST00000370652.1_Missense_Mutation_p.T1337K|GPR112_ENST00000412101.1_Missense_Mutation_p.T1132K|GPR112_ENST00000287534.4_Missense_Mutation_p.T1274K|GPR112_ENST00000394141.1_Missense_Mutation_p.T1132K	p.T1337K	NM_153834.3	NP_722576.3	WXS	Illumina HiSeq	Phase_I	Q8IZF6	GP112_HUMAN			6	4301	+	Acute lymphoblastic leukemia(192;0.000127)		1337					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4010C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	3.929	-0.016606	0.07681	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31510	1.53;1.53;1.49;1.62;1.49	2.81	-0.405	0.12392	.	.	.	.	.	T	0.16811	0.0404	L	0.29908	0.895	0.09310	N	1	P;P;B	0.45827	0.867;0.642;0.421	B;B;B	0.38020	0.263;0.26;0.081	T	0.12066	-1.0562	9	0.54805	T	0.06	.	3.1011	0.06327	0.2101:0.5296:0.0:0.2603	.	1274;1132;1337	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	K	1337;1337;1132;1274;1132	ENSP00000377699:T1337K;ENSP00000359686:T1337K;ENSP00000416526:T1132K;ENSP00000287534:T1274K;ENSP00000377697:T1132K	ENSP00000287534:T1274K	T	+	2	0	GPR112	135257541	0.001000	0.12720	0.001000	0.08648	0.070000	0.16714	0.046000	0.14035	-0.387000	0.07809	0.525000	0.51046	ACA		0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	0			X:135429875
PKD1	5310	broad.mit.edu	37	16	2156826	2156826	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:2156826T>C	ENST00000262304.4	-	17	7397	c.7189A>G	c.(7189-7191)Agc>Ggc	p.S2397G	PKD1_ENST00000423118.1_Missense_Mutation_p.S2397G|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2397	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAGCCGCTGCTGCAATTGAGG	0.662																																						ENST00000262304.4		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(7189-7191)Agc>Ggc		polycystic kidney disease 1 (autosomal dominant)							4.0	6.0	5.0					16																	2156826		1156	2279	3435	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2156826T>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7189A>G	16.37:g.2156826T>C	ENSP00000262304:p.Ser2397Gly	False	False		Somatic	0				PKD1_ENST00000423118.1_Missense_Mutation_p.S2397G	p.S2397G	NM_001009944.2	NP_001009944	WXS	Illumina HiSeq	Phase_I	P98161	PKD1_HUMAN			17	7397	-			2397			REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.7189A>G	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	t	2.685	-0.274485	0.05679	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.69926	-0.44;-0.44	4.22	3.11	0.35812	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.607624	0.18369	N	0.143312	T	0.54679	0.1873	L	0.51422	1.61	0.22754	N	0.998778	B;B	0.18610	0.029;0.016	B;B	0.23852	0.049;0.026	T	0.38672	-0.9650	10	0.19590	T	0.45	.	5.6771	0.17755	0.0:0.1065:0.3359:0.5576	.	2397;2397	P98161-3;P98161	.;PKD1_HUMAN	G	2397;2397;1748;676	ENSP00000262304:S2397G;ENSP00000399501:S2397G	ENSP00000262304:S2397G	S	-	1	0	PKD1	2096827	1.000000	0.71417	0.960000	0.40013	0.494000	0.33585	2.464000	0.45067	0.782000	0.33613	0.445000	0.29226	AGC		0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	0			16:2156826
HIST2H2AC	8338	broad.mit.edu	37	1	149858795	149858795	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:149858795G>A	ENST00000331380.2	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	91						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D91H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATCCGCAACGACGAGGAACT	0.597																																						ENST00000331380.2		NA																	1	Substitution - Missense(1)	p.D91H(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(271-273)Gac>Aac		histone cluster 2, H2ac							67.0	68.0	68.0					1																	149858795		2203	4296	6499	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858795G>A	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.271G>A	1.37:g.149858795G>A	ENSP00000332194:p.Asp91Asn	False	False		Somatic	0					p.D91N	NM_003517.2	NP_003508.1	WXS	Illumina HiSeq	Phase_I	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	271	+	Breast(34;0.0124)|all_hematologic(923;0.127)		91					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.271G>A	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661156	0.29515	.	.	ENSG00000184260	ENST00000331380	T	0.70282	-0.47	5.56	2.71	0.32032	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.46758	D	0.000261	D	0.82287	0.5004	H	0.94620	3.56	0.33946	D	0.643839	D	0.89917	1.0	D	0.79784	0.993	D	0.84200	0.0450	10	0.72032	D	0.01	.	9.9885	0.41856	0.2101:0.0:0.7899:0.0	.	91	Q16777	H2A2C_HUMAN	N	91	ENSP00000332194:D91N	ENSP00000332194:D91N	D	+	1	0	HIST2H2AC	148125419	1.000000	0.71417	0.996000	0.52242	0.112000	0.19704	6.544000	0.73878	0.325000	0.23359	-0.136000	0.14681	GAC		0.597	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	0	NM_003517		1:149858795
SMPD4	55627	broad.mit.edu	37	2	130910653	130910653	+	Missense_Mutation	SNP	C	C	T	rs369700397		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:130910653C>T	ENST00000409031.1	-	19	3382	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	SMPD4_ENST00000452225.2_Missense_Mutation_p.R486H|SMPD4_ENST00000443958.2_Missense_Mutation_p.R409H|SMPD4_ENST00000426662.2_Missense_Mutation_p.R381H|SMPD4_ENST00000339679.7_Missense_Mutation_p.R603H|SMPD4_ENST00000431183.2_Missense_Mutation_p.R643H|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000453750.1_Missense_Mutation_p.R494H|SMPD4_ENST00000351288.6_Missense_Mutation_p.R716H	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	706					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AAAGAGTGTGCGGACCAAGCT	0.582																																						ENST00000409031.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2233-2235)cGc>cAc		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)	C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405		0,1,2202	78.0	88.0	84.0		1928,2147,2234	4.1	0.9	2		84	0,8600		0,0,4300	no	missense,missense,missense	SMPD4	NM_001171083.2,NM_017751.4,NM_017951.4	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	643/765,716/838,745/867	130910653	1,13005	2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130910653C>T	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2234G>A	2.37:g.130910653C>T	ENSP00000386531:p.Arg745His	False	False		Somatic	0				SMPD4_ENST00000351288.6_Missense_Mutation_p.R716H|SMPD4_ENST00000426662.2_Missense_Mutation_p.R381H|SMPD4_ENST00000453750.1_Missense_Mutation_p.R494H|SMPD4_ENST00000339679.7_Missense_Mutation_p.R603H|SMPD4_ENST00000431183.2_Missense_Mutation_p.R643H|SMPD4_ENST00000443958.2_Missense_Mutation_p.R409H|SMPD4_ENST00000452225.2_Missense_Mutation_p.R486H	p.R745H	NM_017951.4	NP_060421.2	WXS	Illumina HiSeq	Phase_I	Q9NXE4	NSMA3_HUMAN			19	3382	-	Colorectal(110;0.1)		706					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.2234G>A	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.14|18.14	3.557063|3.557063	0.65425|0.65425	2.27E-4|2.27E-4	0.0|0.0	ENSG00000136699|ENSG00000136699	ENST00000439886|ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79604|0.79604	0.4474|0.4474	M|M	0.82323|0.82323	2.585|2.585	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D;D	.|0.85130	.|0.984;0.987;0.995;0.989;0.997;0.937;0.959;0.997;0.993;0.984	T|T	0.83285|0.83285	-0.0036|-0.0036	5|9	.|0.72032	.|D	.|0.01	.|.	13.8586|13.8586	0.63545|0.63545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|381;486;643;603;494;677;706;745;752;277	.|B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.|.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	T|H	620|716;745;643;494;409;603;486;381	.|.	.|ENSP00000339721:R603H	A|R	-|-	1|2	0|0	SMPD4|SMPD4	130627123|130627123	1.000000|1.000000	0.71417|0.71417	0.871000|0.871000	0.34182|0.34182	0.066000|0.066000	0.16364|0.16364	7.434000|7.434000	0.80377|0.80377	1.820000|1.820000	0.53075|0.53075	0.549000|0.549000	0.68633|0.68633	GCA|CGC		0.582	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	0	NM_017751		2:130910653
TP53	7157	broad.mit.edu	37	17	7579479	7579479	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:7579479C>T	ENST00000269305.4	-	4	397	c.208G>A	c.(208-210)Gct>Act	p.A70T	TP53_ENST00000359597.4_Missense_Mutation_p.A70T|TP53_ENST00000420246.2_Missense_Mutation_p.A70T|TP53_ENST00000413465.2_Missense_Mutation_p.A70T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.A70T|TP53_ENST00000445888.2_Missense_Mutation_p.A70T	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	70	Interaction with HRMT1L2.|Interaction with WWOX.		A -> T (in a sporadic cancer; 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.0?(8)|p.G59fs*23(3)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.A70T(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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)	ACGGGGGGAGCAGCCTCTGGC	0.597		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"""		19	Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(2)|Substitution - Missense(1)|Complex - frameshift(1)	p.0?(8)|p.G59fs*23(3)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.A70T(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)	breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|prostate(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.(208-210)Gct>Act	Other conserved DNA damage response genes	tumor protein p53							99.0	107.0	104.0					17																	7579479		2203	4300	6503	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.chr17:7579479C>T	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.208G>A	17.37:g.7579479C>T	ENSP00000269305:p.Ala70Thr	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_ENST00000413465.2_Missense_Mutation_p.A70T|TP53_ENST00000455263.2_Missense_Mutation_p.A70T|TP53_ENST00000445888.2_Missense_Mutation_p.A70T|TP53_ENST00000359597.4_Missense_Mutation_p.A70T|TP53_ENST00000269305.4_Missense_Mutation_p.A70T	p.A70T	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)	4	340	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	70		A -> T (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		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.208G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.093	1.002269	0.19121	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99376	-5.28;-5.79;-5.51;-5.79;-5.79;-5.51;-4.19;-2.14	3.66	-2.27	0.06846	.	4.481350	0.01345	N	0.011694	D	0.95092	0.8410	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.27971	0.079;0.049;0.196;0.013;0.031;0.025;0.0	B;B;B;B;B;B;B	0.29785	0.031;0.026;0.107;0.017;0.034;0.022;0.0	D	0.97004	0.9731	10	0.09843	T	0.71	.	1.4508	0.02374	0.1962:0.3205:0.3268:0.1566	.	31;70;70;70;70;70;70	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	70	ENSP00000410739:A70T;ENSP00000352610:A70T;ENSP00000269305:A70T;ENSP00000398846:A70T;ENSP00000391127:A70T;ENSP00000391478:A70T;ENSP00000424104:A70T;ENSP00000426252:A70T	ENSP00000269305:A70T	A	-	1	0	TP53	7520204	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	-0.099000	0.11007	-0.331000	0.08501	-1.242000	0.01536	GCT		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7579479
ACOT12	134526	broad.mit.edu	37	5	80667586	80667586	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:80667586A>G	ENST00000307624.3	-	3	269	c.241T>C	c.(241-243)Ttc>Ctc	p.F81L	ACOT12_ENST00000513751.1_Missense_Mutation_p.F81L	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	81	Acyl coenzyme A hydrolase 1.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTGTGCTGAATGCTCTAGTA	0.393																																						ENST00000307624.3		NA																	0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(241-243)Ttc>Ctc		acyl-CoA thioesterase 12							220.0	180.0	193.0					5																	80667586		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80667586A>G	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.241T>C	5.37:g.80667586A>G	ENSP00000303246:p.Phe81Leu	False	False		Somatic	0				ACOT12_ENST00000513751.1_Missense_Mutation_p.F81L	p.F81L	NM_130767.2	NP_570123.1	WXS	Illumina HiSeq	Phase_I	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	3	269	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	81			Acyl coenzyme A hydrolase 1.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.241T>C	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532595	0.85812	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.21734	1.99;1.99	5.8	5.8	0.92144	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.90650	3.135	0.52099	D	0.999946	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.60120	-0.7325	10	0.46703	T	0.11	-10.442	13.6838	0.62504	1.0:0.0:0.0:0.0	.	81;81	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	L	81	ENSP00000303246:F81L;ENSP00000421628:F81L	ENSP00000303246:F81L	F	-	1	0	ACOT12	80703342	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	5.817000	0.69229	2.227000	0.72691	0.460000	0.39030	TTC		0.393	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	0	NM_130767		5:80667586
TMEM79	84283	broad.mit.edu	37	1	156256255	156256255	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:156256255C>T	ENST00000405535.2	+	3	1133	c.962C>T	c.(961-963)gCc>gTc	p.A321V	TMEM79_ENST00000295694.5_Missense_Mutation_p.A321V|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Silent_p.C82C	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	321					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GGTCTCTTTGCCGTCTCCCGG	0.562																																						ENST00000405535.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(961-963)gCc>gTc		transmembrane protein 79							101.0	104.0	103.0					1																	156256255		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156256255C>T	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.962C>T	1.37:g.156256255C>T	ENSP00000384748:p.Ala321Val	False	False		Somatic	0				TMEM79_ENST00000357501.2_Silent_p.C82C|TMEM79_ENST00000295694.5_Missense_Mutation_p.A321V|TMEM79_ENST00000495881.1_3'UTR	p.A321V	NM_032323.2	NP_115699.1	WXS	Illumina HiSeq	Phase_I	Q9BSE2	TMM79_HUMAN			3	1133	+	Hepatocellular(266;0.158)		321					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.962C>T	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663832	0.67700	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.50277	0.75;0.75	5.62	5.62	0.85841	.	0.169075	0.52532	D	0.000061	T	0.29684	0.0741	N	0.11427	0.14	0.58432	D	0.999999	P	0.51537	0.946	P	0.52646	0.705	T	0.10989	-1.0606	10	0.30854	T	0.27	-1.5462	16.3903	0.83532	0.0:1.0:0.0:0.0	.	321	Q9BSE2	TMM79_HUMAN	V	321	ENSP00000295694:A321V;ENSP00000384748:A321V	ENSP00000295694:A321V	A	+	2	0	TMEM79	154522879	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	4.836000	0.62789	2.645000	0.89757	0.462000	0.41574	GCC		0.562	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	0	NM_032323		1:156256255
SORCS2	57537	broad.mit.edu	37	4	7533314	7533314	+	Silent	SNP	C	C	T	rs371851041		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:7533314C>T	ENST00000507866.2	+	3	715	c.606C>T	c.(604-606)acC>acT	p.T202T	SORCS2_ENST00000329016.9_Silent_p.T30T|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	202					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTGTCACCACCGTCATCGACA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		20651	0.0		0.0	False		,,,				2504	0.001					ENST00000507866.2		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(604-606)acC>acT		sortilin-related VPS10 domain containing receptor 2		C		1,4201		0,1,2100	90.0	102.0	98.0		606	-7.2	0.4	4		98	0,8404		0,0,4202	no	coding-synonymous	SORCS2	NM_020777.2		0,1,6302	TT,TC,CC		0.0,0.0238,0.0079		202/1160	7533314	1,12605	2101	4202	6303	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7533314C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.606C>T	4.37:g.7533314C>T		False	False		Somatic	0				SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Silent_p.T30T	p.T202T	NM_020777.2	NP_065828.2	WXS	Illumina HiSeq	Phase_I	Q96PQ0	SORC2_HUMAN			3	715	+			202					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.606C>T	CCDS47008.1																																																																																				0.602	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	0	NM_020777		4:7533314
NELL2	4753	broad.mit.edu	37	12	45105106	45105106	+	Silent	SNP	G	G	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:45105106G>T	ENST00000429094.2	-	11	1662	c.1158C>A	c.(1156-1158)acC>acA	p.T386T	NELL2_ENST00000551601.1_Silent_p.T385T|NELL2_ENST00000549027.1_Silent_p.T385T|NELL2_ENST00000452445.2_Silent_p.T386T|NELL2_ENST00000333837.4_Silent_p.T409T|NELL2_ENST00000395487.2_Silent_p.T385T|NELL2_ENST00000437801.2_Silent_p.T436T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	386						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGTGAGACAAGGTTATCTGAT	0.398																																						ENST00000429094.2		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1156-1158)acC>acA		NEL-like 2 (chicken)							126.0	114.0	118.0					12																	45105106		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45105106G>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1158C>A	12.37:g.45105106G>T		False	False		Somatic	0				NELL2_ENST00000333837.4_Silent_p.T409T|NELL2_ENST00000549027.1_Silent_p.T385T|NELL2_ENST00000395487.2_Silent_p.T385T|NELL2_ENST00000437801.2_Silent_p.T436T|NELL2_ENST00000551601.1_Silent_p.T385T|NELL2_ENST00000452445.2_Silent_p.T386T	p.T386T	NM_001145108.1	NP_001138580.1	WXS	Illumina HiSeq	Phase_I	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	11	1662	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	386			VWFC 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1158C>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	8.433	0.849108	0.17034	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.79	-1.97	0.07503	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	T	0.31558	-0.9939	4	.	.	.	-8.8524	1.4208	0.02311	0.3427:0.0865:0.3107:0.2601	.	.	.	.	H	130	.	.	P	-	2	0	NELL2	43391373	0.938000	0.31826	0.982000	0.44146	0.983000	0.72400	-0.010000	0.12743	-0.109000	0.12044	-0.126000	0.14955	CCT		0.398	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	0	NM_006159		12:45105106
TYR	7299	broad.mit.edu	37	11	88924443	88924443	+	Missense_Mutation	SNP	G	G	A	rs148815276		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:88924443G>A	ENST00000263321.5	+	2	1395	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	298					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GGACCTTTACGGCGTAATCCT	0.468																																						ENST00000263321.5		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(892-894)cGg>cAg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	134.0	125.0	128.0		893	0.5	0.0	11	dbSNP_134	128	0,8598		0,0,4299	no	missense	TYR	NM_000372.4	43	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	298/530	88924443	1,12999	2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924443G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.893G>A	11.37:g.88924443G>A	ENSP00000263321:p.Arg298Gln	False	False		Somatic	0				TYR_ENST00000526139.1_3'UTR	p.R298Q	NM_000372.4	NP_000363.1	WXS	Illumina HiSeq	Phase_I	P14679	TYRO_HUMAN			2	1395	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	298					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.893G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	7.767	0.706604	0.15239	2.27E-4	0.0	ENSG00000077498	ENST00000263321	D	0.97114	-4.25	5.59	0.524	0.17066	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.354131	0.29205	N	0.012826	D	0.91576	0.7339	L	0.39020	1.185	0.09310	N	1	P	0.40230	0.708	B	0.33750	0.169	D	0.84793	0.0780	9	.	.	.	.	7.2211	0.25988	0.3203:0.0:0.2284:0.4513	.	298	P14679	TYRO_HUMAN	Q	298	ENSP00000263321:R298Q	.	R	+	2	0	TYR	88564091	0.004000	0.15560	0.033000	0.17914	0.384000	0.30261	1.222000	0.32515	-0.154000	0.11118	-2.213000	0.00299	CGG		0.468	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	0	NM_000372		11:88924443
DSEL	92126	broad.mit.edu	37	18	65180274	65180274	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:65180274C>A	ENST00000310045.7	-	2	3075	c.1602G>T	c.(1600-1602)caG>caT	p.Q534H	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	524					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACTTAAGCCACTGCGCACATT	0.512																																						ENST00000310045.7		NA																	0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1600-1602)caG>caT		dermatan sulfate epimerase-like							90.0	78.0	82.0					18																	65180274		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180274C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1602G>T	18.37:g.65180274C>A	ENSP00000310565:p.Gln534His	False	False		Somatic	0				CTD-2541J13.2_ENST00000583493.1_RNA	p.Q534H	NM_032160.2	NP_115536.1	WXS	Illumina HiSeq	Phase_I	Q8IZU8	DSEL_HUMAN			2	3075	-		Esophageal squamous(42;0.129)	524					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1602G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541902	0.65198	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18810	2.19	5.67	2.89	0.33648	.	0.067597	0.64402	U	0.000016	T	0.32912	0.0845	L	0.51422	1.61	0.45704	D	0.998613	D	0.67145	0.996	P	0.59703	0.862	T	0.04454	-1.0950	10	0.72032	D	0.01	-9.1529	10.5565	0.45121	0.0:0.7858:0.0:0.2142	.	524	Q8IZU8	DSEL_HUMAN	H	534;524	ENSP00000310565:Q534H	ENSP00000310565:Q534H	Q	-	3	2	DSEL	63331254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.112000	0.50368	0.735000	0.32537	0.563000	0.77884	CAG		0.512	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	0	NM_032160		18:65180274
ATP10A	57194	broad.mit.edu	37	15	25953374	25953374	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr15:25953374T>G	ENST00000356865.6	-	11	2529	c.2418A>C	c.(2416-2418)gaA>gaC	p.E806D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	806					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCGCAGGCCTTCCGCCGCAT	0.577																																						ENST00000356865.6		NA																	0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2416-2418)gaA>gaC		ATPase, class V, type 10A							127.0	108.0	114.0					15																	25953374		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953374T>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2418A>C	15.37:g.25953374T>G	ENSP00000349325:p.Glu806Asp	False	False		Somatic	0					p.E806D	NM_024490.3	NP_077816.1	WXS	Illumina HiSeq	Phase_I	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2529	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	806					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2418A>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	7.022	0.558919	0.13436	.	.	ENSG00000206190	ENST00000356865	D	0.82433	-1.61	4.84	-4.91	0.03085	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.093232	0.64402	N	0.000001	T	0.53578	0.1805	N	0.12920	0.275	0.46317	D	0.998986	B	0.06786	0.001	B	0.15484	0.013	T	0.51764	-0.8664	10	0.02654	T	1	-23.9456	2.2901	0.04136	0.283:0.4025:0.0988:0.2157	.	806	O60312	AT10A_HUMAN	D	806	ENSP00000349325:E806D	ENSP00000349325:E806D	E	-	3	2	ATP10A	23504467	1.000000	0.71417	0.792000	0.32020	0.854000	0.48673	1.151000	0.31651	-0.677000	0.05231	0.533000	0.62120	GAA		0.577	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	0	NM_024490		15:25953374
ELOVL2	54898	broad.mit.edu	37	6	10984107	10984107	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:10984107C>A	ENST00000354666.3	-	8	881	c.798G>T	c.(796-798)atG>atT	p.M266I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	266					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GTGGCTCTTGCATATCTTTCT	0.353																																						ENST00000354666.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(796-798)atG>atT		ELOVL fatty acid elongase 2							179.0	161.0	167.0					6																	10984107		2202	4300	6502	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10984107C>A	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.798G>T	6.37:g.10984107C>A	ENSP00000346693:p.Met266Ile	False	False		Somatic	0					p.M266I	NM_017770.3	NP_060240.3	WXS	Illumina HiSeq	Phase_I	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		8	881	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	266					Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.798G>T	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622984	0.28889	.	.	ENSG00000197977	ENST00000354666	T	0.21191	2.02	5.2	1.35	0.21983	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44847	-0.9301	9	0.38643	T	0.18	1.9891	4.5775	0.12241	0.0:0.4456:0.1567:0.3977	.	266	Q9NXB9	ELOV2_HUMAN	I	266	ENSP00000346693:M266I	ENSP00000346693:M266I	M	-	3	0	ELOVL2	11092093	0.000000	0.05858	0.000000	0.03702	0.709000	0.40893	-0.408000	0.07169	0.020000	0.15106	0.650000	0.86243	ATG		0.353	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1	0			6:10984107
C1orf43	25912	broad.mit.edu	37	1	154192337	154192337	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:154192337A>T	ENST00000368521.5	-	2	341	c.143T>A	c.(142-144)gTc>gAc	p.V48D	C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.V48D|C1orf43_ENST00000350592.3_Intron|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368519.1_Missense_Mutation_p.V48D|UBAP2L_ENST00000271877.7_5'Flank|UBAP2L_ENST00000428931.1_5'Flank|UBAP2L_ENST00000343815.6_5'Flank	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	48						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TCCCACAGGGACATGAGGTCC	0.428																																						ENST00000368521.5		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(142-144)gTc>gAc		chromosome 1 open reading frame 43							64.0	62.0	63.0					1																	154192337		1859	4100	5959	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154192337A>T	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.143T>A	1.37:g.154192337A>T	ENSP00000357507:p.Val48Asp	True	False		Somatic	0				C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000350592.3_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.V48D|C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000368519.1_Missense_Mutation_p.V48D	p.V48D	NM_001098616.1	NP_001092086.1	WXS	Illumina HiSeq	Phase_I	Q9BWL3	CA043_HUMAN			2	341	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		48					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.143T>A	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736629	0.89482	.	.	ENSG00000143612	ENST00000368521;ENST00000368519;ENST00000368518	.	.	.	6.17	6.17	0.99709	.	0.054326	0.64402	D	0.000001	T	0.72479	0.3465	M	0.75615	2.305	0.80722	D	1	D;D	0.62365	0.982;0.991	P;P	0.62184	0.682;0.899	T	0.76515	-0.2931	9	0.72032	D	0.01	-18.2699	16.0034	0.80327	1.0:0.0:0.0:0.0	.	48;48	Q9BWL3-5;Q9BWL3	.;CA043_HUMAN	D	48	.	ENSP00000357504:V48D	V	-	2	0	C1orf43	152458961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.842000	0.69417	2.371000	0.80710	0.533000	0.62120	GTC		0.428	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	0	NM_015449		1:154192337
SSTR5	6755	broad.mit.edu	37	16	1129924	1129924	+	Silent	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:1129924C>T	ENST00000293897.4	+	1	1144	c.1056C>T	c.(1054-1056)cgC>cgT	p.R352R	SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Silent_p.R352R	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	352				PPAHR -> RPRT (in Ref. 1; AAA20828). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCGCGCACCGCGCCGCAGCCA	0.711																																						ENST00000293897.4		NA																	0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(1054-1056)cgC>cgT		somatostatin receptor 5	Octreotide(DB00104)						14.0	14.0	14.0					16																	1129924		2162	4262	6424	SO:0001819	synonymous_variant	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129924C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1056C>T	16.37:g.1129924C>T		False	False		Somatic	0				SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.R352R	p.R352R	NM_001053.3	NP_001044.1	WXS	Illumina HiSeq	Phase_I	P35346	SSR5_HUMAN			1	1144	+		Hepatocellular(780;0.00369)	352	PPAHR -> RPRT (in Ref. 1; AAA20828).				P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.1056C>T	CCDS10429.1																																																																																				0.711	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	0			16:1129924
VPS33B	26276	broad.mit.edu	37	15	91557033	91557033	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr15:91557033C>T	ENST00000333371.3	-	5	711		c.e5+1		VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000557358.1_Intron|VPS33B_ENST00000535906.1_Splice_Site	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)						lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCCAAACTCACCTTTTGAGGG	0.522																																						ENST00000333371.3		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.e5+1		vacuolar protein sorting 33 homolog B (yeast)							158.0	138.0	145.0					15																	91557033		2198	4298	6496	SO:0001630	splice_region_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91557033C>T	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.357+1G>A	15.37:g.91557033C>T		False	False		Somatic	0				VPS33B_ENST00000557358.1_Intron|VPS33B_ENST00000535906.1_Splice_Site|VPS33B_ENST00000535843.1_Splice_Site		NM_018668.3	NP_061138.3	WXS	Illumina HiSeq	Phase_I	Q9H267	VP33B_HUMAN			5	711	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		NA					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Splice_Site	SNP	ENST00000333371.3	37		CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600940	0.87055	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2545	0.93940	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS33B	89358037	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.902000	0.69869	2.647000	0.89833	0.650000	0.86243	.		0.522	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	0	NM_018668	Intron	15:91557033
HIST2H2BF	440689	broad.mit.edu	37	1	149783718	149783718	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:149783718C>T	ENST00000369167.1	-	1	196	c.161G>A	c.(160-162)gGc>gAc	p.G54D	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	54					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGACGAGATGCCGGTGTCGGG	0.597																																						ENST00000427880.2		NA																	2	Substitution - Missense(2)	p.G54D(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(160-162)gGc>gAc		histone cluster 2, H2bf							157.0	145.0	149.0					1																	149783718		2203	4297	6500	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783718C>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.161G>A	1.37:g.149783718C>T	ENSP00000358164:p.Gly54Asp	False	False		Somatic	0				HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D	p.G54D			WXS	Illumina HiSeq	Phase_I	Q5QNW6	H2B2F_HUMAN			1	207	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.161G>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056130	0.93793	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.69435	-0.4;-0.4;-0.4	3.52	3.52	0.40303	Histone-fold (2);Histone core (1);	0.000000	0.49305	D	0.000147	D	0.86810	0.6022	H	0.98487	4.245	0.53688	D	0.999974	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.81914	0.995;0.99;0.964	D	0.91519	0.5233	10	0.87932	D	0	.	14.9173	0.70807	0.0:1.0:0.0:0.0	.	54;54;54	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	D	54	ENSP00000445831:G54D;ENSP00000407461:G54D;ENSP00000358164:G54D	ENSP00000358164:G54D	G	-	2	0	HIST2H2BF	148050342	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.994000	0.76251	2.283000	0.76528	0.184000	0.17185	GGC		0.597	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	0	NM_001024599		1:149783718
IL26	55801	broad.mit.edu	37	12	68619408	68619408	+	Silent	SNP	G	G	A	rs572120709		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:68619408G>A	ENST00000229134.4	-	1	193	c.129C>T	c.(127-129)gaC>gaT	p.D43D	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	43					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TATAGAGAGCGTCAACAGCTT	0.438																																						ENST00000229134.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12						c.(127-129)gaC>gaT		interleukin 26							281.0	247.0	259.0					12																	68619408		2203	4300	6503	SO:0001819	synonymous_variant	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619408G>A	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.129C>T	12.37:g.68619408G>A		False	False		Somatic	0				IFNG-AS1_ENST00000536914.1_RNA	p.D43D	NM_018402.1	NP_060872.1	WXS	Illumina HiSeq	Phase_I	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	193	-			43						Silent	SNP	ENST00000229134.4	37	c.129C>T	CCDS8981.1																																																																																				0.438	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	0	NM_018402		12:68619408
ZBED4	9889	broad.mit.edu	37	22	50279783	50279783	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr22:50279783G>A	ENST00000216268.5	+	2	2950	c.2473G>A	c.(2473-2475)Gtg>Atg	p.V825M		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	825						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)		GCACTCGAGCGTGCAGTGCTT	0.627																																						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.(2473-2475)Gtg>Atg		zinc finger, BED-type containing 4							37.0	37.0	37.0					22																	50279783		2202	4300	6502	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279783G>A	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.2473G>A	22.37:g.50279783G>A	ENSP00000216268:p.Val825Met	False	False		Somatic	0					p.V825M	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	2950	+		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	Missense_Mutation	SNP	ENST00000216268.5	37	c.2473G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611814	0.46631	.	.	ENSG00000100426	ENST00000216268	T	0.28069	1.63	5.57	4.56	0.56223	Ribonuclease H-like (1);	0.118290	0.53938	D	0.000043	T	0.27866	0.0686	L	0.38175	1.15	0.48087	D	0.999586	D	0.57257	0.979	P	0.44518	0.452	T	0.02144	-1.1206	10	0.31617	T	0.26	-40.5602	14.3766	0.66881	0.071:0.0:0.929:0.0	.	825	O75132	ZBED4_HUMAN	M	825	ENSP00000216268:V825M	ENSP00000216268:V825M	V	+	1	0	ZBED4	48665787	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	2.802000	0.47916	1.345000	0.45676	0.655000	0.94253	GTG		0.627	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	0	NM_014838		22:50279783
TNIK	23043	broad.mit.edu	37	3	170786732	170786732	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:170786732C>T	ENST00000436636.2	-	30	3948	c.3604G>A	c.(3604-3606)Ggt>Agt	p.G1202S	TNIK_ENST00000357327.5_Missense_Mutation_p.G1173S|TNIK_ENST00000460047.1_Missense_Mutation_p.G1139S|TNIK_ENST00000488470.1_Missense_Mutation_p.G1147S|TNIK_ENST00000475336.1_Missense_Mutation_p.G1110S|TNIK_ENST00000284483.8_Missense_Mutation_p.G1194S|TNIK_ENST00000470834.1_Missense_Mutation_p.G1165S|TNIK_ENST00000369326.5_Missense_Mutation_p.G1180S|TNIK_ENST00000341852.6_Missense_Mutation_p.G1118S|TNIK_ENST00000538048.1_Missense_Mutation_p.G1154S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1202	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AATCTTTGACCTTCTTCTACC	0.388																																						ENST00000436636.2		NA																	0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3604-3606)Ggt>Agt		TRAF2 and NCK interacting kinase							160.0	156.0	157.0					3																	170786732		1853	4092	5945	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170786732C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3604G>A	3.37:g.170786732C>T	ENSP00000399511:p.Gly1202Ser	False	False		Somatic	0				TNIK_ENST00000369326.5_Missense_Mutation_p.G1180S|TNIK_ENST00000460047.1_Missense_Mutation_p.G1139S|TNIK_ENST00000488470.1_Missense_Mutation_p.G1147S|TNIK_ENST00000357327.5_Missense_Mutation_p.G1173S|TNIK_ENST00000475336.1_Missense_Mutation_p.G1110S|TNIK_ENST00000284483.8_Missense_Mutation_p.G1194S|TNIK_ENST00000470834.1_Missense_Mutation_p.G1165S|TNIK_ENST00000538048.1_Missense_Mutation_p.G1154S|TNIK_ENST00000341852.6_Missense_Mutation_p.G1118S	p.G1202S	NM_015028.2	NP_055843.1	WXS	Illumina HiSeq	Phase_I	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		30	3948	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1202			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3604G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954878	0.92726	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.75154	-0.89;-0.88;-0.9;-0.9;-0.89;-0.89;-0.9;-0.9;-0.91;-0.89	6.06	6.06	0.98353	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	M	0.77616	2.38	0.80722	D	1	D;P;P;P;P;D;P;P;D	0.61080	0.979;0.748;0.863;0.884;0.748;0.986;0.936;0.884;0.989	P;B;B;B;B;P;B;B;P	0.61003	0.882;0.319;0.437;0.41;0.319;0.8;0.437;0.41;0.874	D	0.86263	0.1656	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1154;1110;1165;1139;1118;1194;1173;1147;1202	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	S	1202;1180;1154;1118;1194;1110;1173;1139;1147;1165	ENSP00000399511:G1202S;ENSP00000358332:G1180S;ENSP00000443278:G1154S;ENSP00000345352:G1118S;ENSP00000284483:G1194S;ENSP00000418156:G1110S;ENSP00000349880:G1173S;ENSP00000418916:G1139S;ENSP00000418378:G1147S;ENSP00000419990:G1165S	ENSP00000284483:G1194S	G	-	1	0	TNIK	172269426	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.920000	0.70017	2.882000	0.98803	0.655000	0.94253	GGT		0.388	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	0	XM_039796		3:170786732
PCYT1A	5130	broad.mit.edu	37	3	195975170	195975170	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:195975170G>A	ENST00000292823.2	-	5	414	c.242C>T	c.(241-243)gCc>gTc	p.A81V	PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Missense_Mutation_p.A81V|AC069257.8_ENST00000608995.1_RNA|AC069257.8_ENST00000425275.1_RNA|PCYT1A_ENST00000419333.1_Missense_Mutation_p.A81V|RP11-447L10.1_ENST00000431391.1_3'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	81					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	TATTCCATCGGCATAAACTCT	0.383																																						ENST00000292823.2		NA																	0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(241-243)gCc>gTc		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						83.0	83.0	83.0					3																	195975170		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195975170G>A	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.242C>T	3.37:g.195975170G>A	ENSP00000292823:p.Ala81Val	False	False		Somatic	0				PCYT1A_ENST00000431016.1_Missense_Mutation_p.A81V|RP11-447L10.1_ENST00000431391.1_3'UTR|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Missense_Mutation_p.A81V	p.A81V	NM_005017.2	NP_005008.2	WXS	Illumina HiSeq	Phase_I	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	5	414	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		81			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.242C>T	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	g	26.8	4.769299	0.90020	.	.	ENSG00000161217	ENST00000441879;ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000430755;ENST00000412869;ENST00000443555	D;D;D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.67	5.67	0.87782	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.044612	0.85682	D	0.000000	D	0.97334	0.9128	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98016	1.0368	10	0.87932	D	0	-4.6307	18.8171	0.92081	0.0:0.0:1.0:0.0	.	81	P49585	PCY1A_HUMAN	V	81;81;81;42;81;81;15;81;81	ENSP00000392397:A81V;ENSP00000390968:A81V;ENSP00000292823:A81V;ENSP00000394617:A81V;ENSP00000400430:A81V;ENSP00000402283:A15V;ENSP00000402015:A81V;ENSP00000393341:A81V	ENSP00000292823:A81V	A	-	2	0	PCYT1A	197459567	1.000000	0.71417	0.998000	0.56505	0.423000	0.31445	9.472000	0.97709	2.686000	0.91538	0.645000	0.84053	GCC		0.383	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	0	NM_005017		3:195975170
PRH2	5555	broad.mit.edu	37	12	11083320	11083320	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:11083320C>G	ENST00000396400.3	+	3	198	c.160C>G	c.(160-162)Cag>Gag	p.Q54E	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.Q54E	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	54						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TTTGGGAGGACAGCAATCTCA	0.552																																						ENST00000396400.3		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						c.(160-162)Cag>Gag		proline-rich protein HaeIII subfamily 2							117.0	132.0	127.0					12																	11083320		2203	4300	6503	SO:0001583	missense	5555					extracellular space	protein binding	g.chr12:11083320C>G		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.160C>G	12.37:g.11083320C>G	ENSP00000379682:p.Gln54Glu	False	False		Somatic	0				PRH2_ENST00000381847.3_Missense_Mutation_p.Q54E|PRR4_ENST00000536668.1_Intron	p.Q54E	NM_001110213.1	NP_001103683.1	WXS	Illumina HiSeq	Phase_I	P02810	PRPC_HUMAN			3	198	+			54					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	c.160C>G	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	C	0.588	-0.834193	0.02713	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.16457	2.34;2.34	1.11	0.126	0.14722	.	5.544330	0.01935	N	0.041536	T	0.09905	0.0243	N	0.12182	0.205	0.09310	N	1	B	0.24426	0.103	B	0.17722	0.019	T	0.23476	-1.0187	10	0.44086	T	0.13	.	3.5402	0.07808	0.0:0.713:0.0:0.287	.	54	P02810	PRPC_HUMAN	E	54	ENSP00000371271:Q54E;ENSP00000379682:Q54E	ENSP00000371271:Q54E	Q	+	1	0	PRH2	10974587	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.025000	0.03600	0.041000	0.15688	0.194000	0.17425	CAG		0.552	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	0	NM_001110213		12:11083320
CELF4	56853	broad.mit.edu	37	18	34901802	34901802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:34901802G>A	ENST00000591282.1	-	3	411	c.412C>T	c.(412-414)Cga>Tga	p.R138*	CELF4_ENST00000361795.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000603232.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000601019.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000334919.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000588597.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000412753.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000591287.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000420428.2_Nonsense_Mutation_p.R138*			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	138	Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CTACCTCCTCGGCTCTCGCTG	0.647											OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000420428.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(412-414)Cga>Tga		CUGBP, Elav-like family member 4							62.0	51.0	55.0					18																	34901802		2203	4300	6503	SO:0001587	stop_gained	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34901802G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.412C>T	18.37:g.34901802G>A	ENSP00000464794:p.Arg138*	False	False		Somatic	0	OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	851	CELF4_ENST00000601019.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000412753.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000361795.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000588597.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000334919.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000591287.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000591282.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000603232.1_Nonsense_Mutation_p.R138*	p.R138*	NM_020180.3	NP_064565.1	WXS	Illumina HiSeq	Phase_I	Q9BZC1	CELF4_HUMAN			3	807	-			138			Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Nonsense_Mutation	SNP	ENST00000591282.1	37	c.412C>T	CCDS32818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.838326|8.838326	0.98972|0.98972	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361683|ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.085967	.|0.47455	.|D	.|0.000223	T|.	0.38214|.	0.1032|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31280|.	-0.9949|.	4|.	0.51188|0.02654	T|T	0.08|1	-2.4113|-2.4113	16.1974|16.1974	0.82040|0.82040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	32|138	.|.	ENSP00000355189:P32L|ENSP00000335631:R138X	P|R	-|-	2|1	0|2	CELF4|CELF4	33155800|33155800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.015000|3.015000	0.49599|0.49599	2.413000|2.413000	0.81919|0.81919	0.484000|0.484000	0.47621|0.47621	CCG|CGA		0.647	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	0	NM_020180		18:34901802
NBPF10	100132406	broad.mit.edu	37	1	145311946	145311946	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:145311946A>G	ENST00000369338.1	+	10	1385	c.1195A>G	c.(1195-1197)Att>Gtt	p.I399V	RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000342960.5_Intron|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	672						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGCTTGGCTATTGACATGGA	0.458																																						ENST00000369338.1		NA																	0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1195-1197)Att>Gtt		neuroblastoma breakpoint family, member 10							11.0	14.0	13.0					1																	145311946		689	1580	2269	SO:0001583	missense	100132406							g.chr1:145311946A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.1195A>G	1.37:g.145311946A>G	ENSP00000358344:p.Ile399Val	False	False		Somatic	0				NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Intron|RP11-458D21.5_ENST00000468030.1_Intron	p.I399V			WXS	Illumina HiSeq	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	10	1385	+	all_hematologic(923;0.032)		672					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.1195A>G		.	.	.	.	.	.	.	.	.	.	.	0.012	-1.676900	0.00751	.	.	ENSG00000163386	ENST00000369338;ENST00000369364	T	0.05649	3.41	0.532	0.532	0.17114	.	.	.	.	.	T	0.01558	0.0050	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48091	-0.9065	5	0.31617	T	0.26	.	.	.	.	.	.	.	.	V	399;76	ENSP00000358344:I399V	ENSP00000358344:I399V	I	+	1	0	NBPF10	144023303	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.732000	0.04904	-0.276000	0.09206	-2.458000	0.00206	ATT		0.458	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	0	NM_001039703		1:145311946
KDM4C	23081	broad.mit.edu	37	9	7049110	7049110	+	Silent	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:7049110C>T	ENST00000381309.3	+	17	2899	c.2334C>T	c.(2332-2334)tgC>tgT	p.C778C	KDM4C_ENST00000535193.1_Silent_p.C800C|KDM4C_ENST00000381306.3_Silent_p.C778C|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000442236.2_Silent_p.C523C|KDM4C_ENST00000428870.2_Silent_p.C465C|KDM4C_ENST00000543771.1_Silent_p.C778C	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	778					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATGTCATGTGCGCCGTTGCGG	0.433																																						ENST00000381309.3		NA																	0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2332-2334)tgC>tgT		lysine (K)-specific demethylase 4C							93.0	93.0	93.0					9																	7049110		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7049110C>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2334C>T	9.37:g.7049110C>T		False	False		Somatic	0				KDM4C_ENST00000543771.1_Silent_p.C778C|KDM4C_ENST00000428870.2_Silent_p.C465C|KDM4C_ENST00000535193.1_Silent_p.C800C|KDM4C_ENST00000381306.3_Silent_p.C778C|KDM4C_ENST00000442236.2_Silent_p.C523C|KDM4C_ENST00000536108.1_Intron	p.C778C	NM_015061.3	NP_055876.2	WXS	Illumina HiSeq	Phase_I	Q9H3R0	KDM4C_HUMAN			17	2899	+			778					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.2334C>T	CCDS6471.1																																																																																				0.433	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	0	NM_015061		9:7049110
ILDR1	286676	broad.mit.edu	37	3	121720701	121720701	+	Silent	SNP	G	G	A	rs202089487		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:121720701G>A	ENST00000344209.5	-	4	516	c.390C>T	c.(388-390)ctC>ctT	p.L130L	ILDR1_ENST00000462014.1_Silent_p.L142L|ILDR1_ENST00000273691.3_Silent_p.L130L|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	130	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CATTTATCACGAGATCTGCTC	0.517																																						ENST00000273691.3		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(388-390)ctC>ctT		immunoglobulin-like domain containing receptor 1							149.0	139.0	142.0					3																	121720701		2203	4300	6503	SO:0001819	synonymous_variant	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121720701G>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.390C>T	3.37:g.121720701G>A		False	False		Somatic	0				ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000344209.5_Silent_p.L130L|ILDR1_ENST00000462014.1_Silent_p.L142L	p.L130L	NM_175924.3	NP_787120.1	WXS	Illumina HiSeq	Phase_I	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	495	-			130			Ig-like V-type.		Q6ZP61|Q7Z578	Silent	SNP	ENST00000344209.5	37	c.390C>T	CCDS56271.1																																																																																				0.517	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	0	NM_175924		3:121720701
MTCL1	23255	broad.mit.edu	37	18	8784181	8784181	+	Silent	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:8784181C>T	ENST00000306329.11	+	5	2151	c.2151C>T	c.(2149-2151)caC>caT	p.H717H	SOGA2_ENST00000517570.1_Silent_p.H357H|SOGA2_ENST00000359865.3_Silent_p.H357H|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.H357H																							AACTGCAGCACGAGAACCACG	0.677																																						ENST00000359865.3		NA																	0					NA						c.(1069-1071)caC>caT		SOGA family member 2							31.0	35.0	33.0					18																	8784181		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8784181C>T																												ENST00000306329.11:c.2151C>T	18.37:g.8784181C>T		False	False		Somatic	0				SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Silent_p.H717H|SOGA2_ENST00000517570.1_Silent_p.H357H|SOGA2_ENST00000400050.3_Silent_p.H357H	p.H357H	NM_015210.3	NP_056025.2	WXS	Illumina HiSeq	Phase_I	Q9Y4B5	CC165_HUMAN			6	1213	+			708						Silent	SNP	ENST00000306329.11	37	c.1071C>T																																																																																					0.677	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1	0			18:8784181
A1BG	1	broad.mit.edu	37	19	58862886	58862886	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:58862886G>A	ENST00000263100.3	-	5	842	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	261	Ig-like V-type 3.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGAAGATGCGATCTGGGCTG	0.637																																						ENST00000263100.3		NA																	0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(781-783)Cgc>Tgc		alpha-1-B glycoprotein							85.0	72.0	76.0					19																	58862886		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58862886G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.781C>T	19.37:g.58862886G>A	ENSP00000263100:p.Arg261Cys	False	False		Somatic	0				A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	p.R261C	NM_130786.3	NP_570602.2	WXS	Illumina HiSeq	Phase_I	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	5	842	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	261			Ig-like V-type 3.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.781C>T	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772683	0.49680	.	.	ENSG00000121410	ENST00000263100;ENST00000453054	T	0.13089	2.62	4.08	0.302	0.15786	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.104360	0.07058	N	0.833228	T	0.37652	0.1011	M	0.77820	2.39	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.28902	-1.0029	10	0.72032	D	0.01	.	11.1079	0.48214	0.0:0.0:0.5207:0.4793	.	261	P04217	A1BG_HUMAN	C	261;139	ENSP00000263100:R261C	ENSP00000263100:R261C	R	-	1	0	A1BG	63554698	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.465000	0.22004	0.042000	0.15717	0.462000	0.41574	CGC		0.637	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	0	NM_130786		19:58862886
PPP4R1	9989	broad.mit.edu	37	18	9583116	9583116	+	Splice_Site	SNP	C	C	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:9583116C>A	ENST00000400556.3	-	9	990	c.917G>T	c.(916-918)tGg>tTg	p.W306L	PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Splice_Site_p.W289L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	306					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AAACCCTACCCAACGTGAAGG	0.328																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3		NA																	0				large_intestine(1)|skin(2)	3						c.(916-918)tGg>tTg		protein phosphatase 4, regulatory subunit 1							53.0	50.0	51.0					18																	9583116		1814	4076	5890	SO:0001630	splice_region_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9583116C>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.918+1G>T	18.37:g.9583116C>A		True	False		Somatic	0				PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Splice_Site_p.W289L	p.W306L	NM_001042388.2	NP_001035847.1	WXS	Illumina HiSeq	Phase_I	Q8TF05	PP4R1_HUMAN			9	990	-			306					Q99774|Q9UNQ7	Splice_Site	SNP	ENST00000400556.3	37	c.917G>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856783	0.91433	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.17854	2.25;2.25	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.309004	0.33040	N	0.005343	T	0.43743	0.1261	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.973;0.988	T	0.05305	-1.0893	9	.	.	.	-13.8309	19.5069	0.95121	0.0:1.0:0.0:0.0	.	306;289	Q8TF05;Q8TF05-2	PP4R1_HUMAN;.	L	306;289;217	ENSP00000383402:W306L;ENSP00000383401:W289L	.	W	-	2	0	PPP4R1	9573116	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.294000	0.78760	2.941000	0.99782	0.655000	0.94253	TGG		0.328	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	0	NM_005134	Missense_Mutation	18:9583116
TNC	3371	broad.mit.edu	37	9	117848514	117848514	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:117848514C>T	ENST00000350763.4	-	3	1907	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	TNC_ENST00000537320.1_Missense_Mutation_p.R499H|TNC_ENST00000341037.4_Missense_Mutation_p.R499H|TNC_ENST00000340094.3_Missense_Mutation_p.R499H|TNC_ENST00000345230.3_Missense_Mutation_p.R499H|TNC_ENST00000346706.3_Missense_Mutation_p.R499H|TNC_ENST00000423613.2_Missense_Mutation_p.R499H|TNC_ENST00000542877.1_Missense_Mutation_p.R499H|TNC_ENST00000535648.1_Missense_Mutation_p.R499H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	499	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R499H(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGGGCATTGGCGATCCCGGCA	0.597																																						ENST00000350763.4		NA																	1	Substitution - Missense(1)	p.R499H(1)	central_nervous_system(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(1495-1497)cGc>cAc		tenascin C							116.0	109.0	112.0					9																	117848514		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848514C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1496G>A	9.37:g.117848514C>T	ENSP00000265131:p.Arg499His	False	False		Somatic	0				TNC_ENST00000542877.1_Missense_Mutation_p.R499H|TNC_ENST00000535648.1_Missense_Mutation_p.R499H|TNC_ENST00000345230.3_Missense_Mutation_p.R499H|TNC_ENST00000423613.2_Missense_Mutation_p.R499H|TNC_ENST00000341037.4_Missense_Mutation_p.R499H|TNC_ENST00000346706.3_Missense_Mutation_p.R499H|TNC_ENST00000537320.1_Missense_Mutation_p.R499H|TNC_ENST00000340094.3_Missense_Mutation_p.R499H	p.R499H	NM_002160.3	NP_002151.2	WXS	Illumina HiSeq	Phase_I	P24821	TENA_HUMAN			3	1907	-			499			EGF-like 12.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1496G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	8.572	0.880360	0.17467	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9	5.82	-2.57	0.06248	.	0.783888	0.11926	N	0.516193	T	0.03959	0.0111	L	0.59436	1.845	0.09310	N	1	B;B	0.15719	0.014;0.001	B;B	0.08055	0.003;0.001	T	0.37407	-0.9707	10	0.59425	D	0.04	.	4.1099	0.10053	0.5463:0.2293:0.0677:0.1566	.	499;499	E9PC84;P24821	.;TENA_HUMAN	H	499	ENSP00000344400:R499H;ENSP00000438152:R499H;ENSP00000344555:R499H;ENSP00000345861:R499H;ENSP00000265131:R499H;ENSP00000339553:R499H;ENSP00000411406:R499H;ENSP00000443478:R499H;ENSP00000442242:R499H	ENSP00000344400:R499H	R	-	2	0	TNC	116888335	0.000000	0.05858	0.001000	0.08648	0.323000	0.28346	-0.002000	0.12924	-0.330000	0.08514	0.462000	0.41574	CGC		0.597	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	NM_002160		9:117848514
LMAN2L	81562	broad.mit.edu	37	2	97400208	97400208	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:97400208C>G	ENST00000264963.4	-	3	384	c.362G>C	c.(361-363)gGa>gCa	p.G121A	LMAN2L_ENST00000534882.1_Missense_Mutation_p.E4Q|LMAN2L_ENST00000426463.2_Missense_Mutation_p.E4Q|LMAN2L_ENST00000377079.4_Missense_Mutation_p.G121A|LMAN2L_ENST00000537039.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	121	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ATTCTTCTTTCCTTGTCCATG	0.468																																						ENST00000264963.4		NA																	0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(361-363)gGa>gCa		lectin, mannose-binding 2-like							236.0	210.0	219.0					2																	97400208		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97400208C>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.362G>C	2.37:g.97400208C>G	ENSP00000264963:p.Gly121Ala	True	False		Somatic	0				LMAN2L_ENST00000534882.1_Missense_Mutation_p.E4Q|LMAN2L_ENST00000426463.2_Missense_Mutation_p.E4Q|LMAN2L_ENST00000377079.4_Missense_Mutation_p.G121A|LMAN2L_ENST00000537039.1_5'UTR	p.G121A	NM_030805.3	NP_110432.1	WXS	Illumina HiSeq	Phase_I	Q9H0V9	LMA2L_HUMAN			3	384	-			121			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.362G>C	CCDS2023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.011148|4.011148	0.75046|0.75046	.|.	.|.	ENSG00000114988|ENSG00000114988	ENST00000426463;ENST00000534882|ENST00000264963;ENST00000377079	T;T|T;T	0.78924|0.63255	-1.22;-1.16|-0.03;-0.03	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81828|0.81828	0.4905|0.4905	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	B;B|D;D	0.20550|0.89917	0.046;0.046|0.986;1.0	B;B|P;D	0.22386|0.91635	0.039;0.039|0.768;0.999	T|T	0.82348|0.82348	-0.0502|-0.0502	9|10	0.39692|0.56958	T|D	0.17|0.05	.|.	19.1527|19.1527	0.93495|0.93495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4;4|121;121	B4DVH1;B4DSH3|Q9H0V9-2;Q9H0V9	.;.|.;LMA2L_HUMAN	Q|A	4|121	ENSP00000396391:E4Q;ENSP00000438501:E4Q|ENSP00000264963:G121A;ENSP00000366280:G121A	ENSP00000396391:E4Q|ENSP00000264963:G121A	E|G	-|-	1|2	0|0	LMAN2L|LMAN2L	96763935|96763935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.468000|7.468000	0.80943|0.80943	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.468	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	0	NM_030805		2:97400208
PTPRJ	5795	broad.mit.edu	37	11	48186036	48186036	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:48186036G>T	ENST00000418331.2	+	24	4176	c.3824G>T	c.(3823-3825)cGa>cTa	p.R1275L		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1275	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATGACCTTCGAATGCATAGG	0.428																																						ENST00000418331.2		NA																	0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3823-3825)cGa>cTa		protein tyrosine phosphatase, receptor type, J							194.0	168.0	177.0					11																	48186036		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48186036G>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3824G>T	11.37:g.48186036G>T	ENSP00000400010:p.Arg1275Leu	False	False		Somatic	0					p.R1275L	NM_002843.3	NP_002834.3	WXS	Illumina HiSeq	Phase_I	Q12913	PTPRJ_HUMAN			24	4176	+			1275			Tyrosine-protein phosphatase.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.3824G>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976142	0.92982	.	.	ENSG00000149177	ENST00000418331	D	0.91521	-2.86	4.53	4.53	0.55603	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	.	.	.	.	D	0.97114	0.9057	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98523	1.0624	9	0.87932	D	0	.	15.133	0.72539	0.0:0.0:1.0:0.0	.	1275	Q12913	PTPRJ_HUMAN	L	1275	ENSP00000400010:R1275L	ENSP00000400010:R1275L	R	+	2	0	PTPRJ	48142612	1.000000	0.71417	0.885000	0.34714	0.992000	0.81027	9.735000	0.98825	2.237000	0.73441	0.650000	0.86243	CGA		0.428	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1	0			11:48186036
EML1	2009	broad.mit.edu	37	14	100405582	100405582	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr14:100405582G>A	ENST00000262233.6	+	21	2379	c.2240G>A	c.(2239-2241)cGg>cAg	p.R747Q	EML1_ENST00000334192.4_Missense_Mutation_p.R766Q|EML1_ENST00000327921.9_Missense_Mutation_p.R735Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	747	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R766Q(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCCGTCTGTCGGGCCCATGAG	0.552																																						ENST00000262233.6		NA																	1	Substitution - Missense(1)	p.R766Q(1)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2239-2241)cGg>cAg		echinoderm microtubule associated protein like 1							125.0	112.0	116.0					14																	100405582		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405582G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2240G>A	14.37:g.100405582G>A	ENSP00000262233:p.Arg747Gln	True	False		Somatic	0				EML1_ENST00000327921.9_Missense_Mutation_p.R735Q|EML1_ENST00000334192.4_Missense_Mutation_p.R766Q	p.R747Q	NM_004434.2	NP_004425.2	WXS	Illumina HiSeq	Phase_I	O00423	EMAL1_HUMAN			21	2379	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	747					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2240G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117755	0.77323	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.17854	2.25;2.25;2.25	4.56	4.56	0.56223	.	0.051684	0.64402	D	0.000001	T	0.47710	0.1460	M	0.90082	3.085	0.80722	D	1	P;D;D	0.71674	0.926;0.998;0.959	B;P;B	0.61397	0.388;0.888;0.293	T	0.62205	-0.6903	10	0.87932	D	0	-22.3911	17.6609	0.88193	0.0:0.0:1.0:0.0	.	735;747;766	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	Q	735;747;766;766	ENSP00000327384:R735Q;ENSP00000262233:R747Q;ENSP00000334314:R766Q	ENSP00000262233:R747Q	R	+	2	0	EML1	99475335	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	7.627000	0.83176	2.240000	0.73641	0.561000	0.74099	CGG		0.552	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	0	NM_001008707		14:100405582
GMEB2	26205	broad.mit.edu	37	20	62250746	62250746	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:62250746G>A	ENST00000266068.1	-	1	483	c.5C>T	c.(4-6)gCg>gTg	p.A2V	GMEB2_ENST00000370077.1_Missense_Mutation_p.A2V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	2					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GTCGGGAGTCGCCATGGCTCA	0.632																																						ENST00000266068.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(4-6)gCg>gTg		glucocorticoid modulatory element binding protein 2							114.0	70.0	85.0					20																	62250746		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62250746G>A	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.5C>T	20.37:g.62250746G>A	ENSP00000266068:p.Ala2Val	False	False		Somatic	0				GMEB2_ENST00000370077.1_Missense_Mutation_p.A2V	p.A2V			WXS	Illumina HiSeq	Phase_I	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		1	483	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		2					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.5C>T	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509854	0.64522	.	.	ENSG00000101216	ENST00000370077;ENST00000266068	T;T	0.67345	-0.26;-0.26	4.57	4.57	0.56435	.	0.150819	0.43260	D	0.000590	T	0.74007	0.3660	L	0.32530	0.975	0.43137	D	0.994882	D	0.76494	0.999	D	0.70716	0.97	T	0.78448	-0.2200	10	0.87932	D	0	-3.3315	17.3087	0.87202	0.0:0.0:1.0:0.0	.	2	Q9UKD1	GMEB2_HUMAN	V	2	ENSP00000359094:A2V;ENSP00000266068:A2V	ENSP00000266068:A2V	A	-	2	0	GMEB2	61721190	1.000000	0.71417	0.970000	0.41538	0.153000	0.21895	6.679000	0.74513	2.239000	0.73571	0.462000	0.41574	GCG		0.632	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	0	NM_012384		20:62250746
CERCAM	51148	broad.mit.edu	37	9	131193524	131193524	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:131193524G>A	ENST00000372838.4	+	9	1543	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Missense_Mutation_p.R304H	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	382					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TACTCGGGCCGCACTCTGACC	0.627																																						ENST00000372842.1		NA																	0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(910-912)cGc>cAc		cerebral endothelial cell adhesion molecule							85.0	85.0	85.0					9																	131193524		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131193524G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1145G>A	9.37:g.131193524G>A	ENSP00000361929:p.Arg382His	False	False		Somatic	0				CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H	p.R304H			WXS	Illumina HiSeq	Phase_I	Q5T4B2	GT253_HUMAN			10	4055	+			382					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.911G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789219	0.70337	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.80653	-1.37;-1.4	5.02	4.1	0.47936	.	0.055960	0.64402	N	0.000001	D	0.86293	0.5898	M	0.74546	2.27	0.80722	D	1	D	0.59767	0.986	P	0.57679	0.825	D	0.87600	0.2496	10	0.72032	D	0.01	-20.9121	12.8845	0.58036	0.0818:0.0:0.9182:0.0	.	382	Q5T4B2	GT253_HUMAN	H	304;382;335	ENSP00000361933:R304H;ENSP00000361929:R382H	ENSP00000361929:R382H	R	+	2	0	CERCAM	130233345	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.668000	0.83897	1.197000	0.43143	0.491000	0.48974	CGC		0.627	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	0	NM_016174		9:131193524
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
DSEL	92126	broad.mit.edu	37	18	65180275	65180275	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:65180275T>A	ENST00000310045.7	-	2	3074	c.1601A>T	c.(1600-1602)cAg>cTg	p.Q534L	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	524					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTAAGCCACTGCGCACATTC	0.517																																						ENST00000310045.7		NA																	0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1600-1602)cAg>cTg		dermatan sulfate epimerase-like							89.0	78.0	82.0					18																	65180275		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180275T>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1601A>T	18.37:g.65180275T>A	ENSP00000310565:p.Gln534Leu	False	False		Somatic	0				CTD-2541J13.2_ENST00000583493.1_RNA	p.Q534L	NM_032160.2	NP_115536.1	WXS	Illumina HiSeq	Phase_I	Q8IZU8	DSEL_HUMAN			2	3074	-		Esophageal squamous(42;0.129)	524					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1601A>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954048	0.73902	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18657	2.2	5.67	5.67	0.87782	.	0.067597	0.64402	U	0.000016	T	0.24774	0.0601	L	0.51422	1.61	0.54753	D	0.999981	D	0.53151	0.958	B	0.42692	0.395	T	0.02526	-1.1146	10	0.87932	D	0	-9.1529	15.578	0.76408	0.0:0.0:0.0:1.0	.	524	Q8IZU8	DSEL_HUMAN	L	534;524	ENSP00000310565:Q534L	ENSP00000310565:Q534L	Q	-	2	0	DSEL	63331255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.849000	0.86908	2.169000	0.68431	0.460000	0.39030	CAG		0.517	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	0	NM_032160		18:65180275
GPR98	84059	broad.mit.edu	37	5	90046453	90046453	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:90046453G>A	ENST00000405460.2	+	53	11156	c.11060G>A	c.(11059-11061)cGt>cAt	p.R3687H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3687	Calx-beta 24. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATATGGCCGTATAACCATA	0.343																																						ENST00000405460.2		NA																	0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(11059-11061)cGt>cAt		G protein-coupled receptor 98							188.0	186.0	186.0					5																	90046453		1869	4103	5972	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90046453G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11060G>A	5.37:g.90046453G>A	ENSP00000384582:p.Arg3687His	False	False		Somatic	0					p.R3687H	NM_032119.3	NP_115495.3	WXS	Illumina HiSeq	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	53	11156	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3687					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11060G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.95|12.95	2.092138|2.092138	0.36952|0.36952	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27720|.	1.65|.	5.52|5.52	1.66|1.66	0.24008|0.24008	.|.	0.152878|.	0.64402|.	N|.	0.000017|.	T|T	0.55097|0.55097	0.1899|0.1899	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	B;B|.	0.26483|.	0.15;0.101|.	B;B|.	0.18561|.	0.022;0.01|.	T|T	0.43653|0.43653	-0.9378|-0.9378	10|5	0.37606|.	T|.	0.19|.	.|.	11.2443|11.2443	0.48987|0.48987	0.2377:0.0:0.7623:0.0|0.2377:0.0:0.7623:0.0	.|.	3687;3687|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	H|I	3687|1253	ENSP00000384582:R3687H|.	ENSP00000296619:R3687H|.	R|V	+|+	2|1	0|0	GPR98|GPR98	90082209|90082209	0.096000|0.096000	0.21769|0.21769	0.050000|0.050000	0.19076|0.19076	0.779000|0.779000	0.44077|0.44077	0.982000|0.982000	0.29539|0.29539	0.028000|0.028000	0.15324|0.15324	-0.123000|-0.123000	0.14984|0.14984	CGT|GTA		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	NM_032119		5:90046453
FANCM	57697	broad.mit.edu	37	14	45665470	45665470	+	Silent	SNP	G	G	A	rs377630399		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr14:45665470G>A	ENST00000267430.5	+	21	5521	c.5436G>A	c.(5434-5436)ccG>ccA	p.P1812P	FANCM_ENST00000542564.2_Silent_p.P1786P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1812	Interaction with FAAP24 and EME1.		P -> A (in dbSNP:rs3736772). {ECO:0000269|PubMed:10997877}.		DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTAGACTTCCGCAGGAAGGAA	0.438								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5		NA																	0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5434-5436)ccG>ccA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M		G		1,4405	2.1+/-5.4	0,1,2202	126.0	123.0	124.0		5436	-1.8	0.0	14		124	0,8600		0,0,4300	no	coding-synonymous	FANCM	NM_020937.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1812/2049	45665470	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45665470G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5436G>A	14.37:g.45665470G>A		False	False		Somatic	0				FANCM_ENST00000542564.2_Silent_p.P1786P	p.P1812P	NM_020937.2	NP_065988.1	WXS	Illumina HiSeq	Phase_I	Q8IYD8	FANCM_HUMAN			21	5521	+			1812		P -> A (in dbSNP:rs3736772).	Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.5436G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	6.510	0.462289	0.12342	2.27E-4	0.0	ENSG00000187790	ENST00000554809	.	.	.	5.27	-1.83	0.07833	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	.	1.3233	0.02121	0.293:0.1242:0.3414:0.2414	.	.	.	.	T	780	.	.	A	+	1	0	FANCM	44735220	0.000000	0.05858	0.008000	0.14137	0.362000	0.29581	-0.041000	0.12084	-0.216000	0.10048	-0.414000	0.06135	GCA		0.438	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	0	XM_048128		14:45665470
OR2A12	346525	broad.mit.edu	37	7	143792898	143792898	+	Missense_Mutation	SNP	G	G	A	rs555296359	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:143792898G>A	ENST00000408949.2	+	1	758	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R233L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GGGGAGGGCCGCAGAAAGGCC	0.592													.|||	2	0.000399361	0.0	0.0	5008	,	,		17981	0.0		0.0	False		,,,				2504	0.002					ENST00000408949.2		NA																	1	Substitution - Missense(1)	p.R233L(1)	kidney(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(697-699)cGc>cAc		olfactory receptor, family 2, subfamily A, member 12							149.0	144.0	145.0					7																	143792898		1964	4148	6112	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792898G>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.698G>A	7.37:g.143792898G>A	ENSP00000386174:p.Arg233His	False	False		Somatic	0					p.R233H	NM_001004135.1	NP_001004135.1	WXS	Illumina HiSeq	Phase_I	Q8NGT7	O2A12_HUMAN			1	758	+	Melanoma(164;0.0783)		233					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.698G>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730866	0.48939	.	.	ENSG00000221858	ENST00000408949	T	0.00333	8.07	4.33	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.86573	2.825	0.09310	N	1	B	0.32717	0.381	B	0.37888	0.26	T	0.17440	-1.0369	9	0.72032	D	0.01	-12.5177	10.0057	0.41955	0.1007:0.0:0.8993:0.0	.	233	Q8NGT7	O2A12_HUMAN	H	233	ENSP00000386174:R233H	ENSP00000386174:R233H	R	+	2	0	OR2A12	143423831	0.002000	0.14202	0.959000	0.39883	0.959000	0.62525	1.072000	0.30678	1.043000	0.40175	0.505000	0.49811	CGC		0.592	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1	0			7:143792898
LNPEP	4012	broad.mit.edu	37	5	96342191	96342191	+	Silent	SNP	A	A	G	rs541171362		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:96342191A>G	ENST00000231368.5	+	11	2699	c.2007A>G	c.(2005-2007)caA>caG	p.Q669Q	LNPEP_ENST00000395770.3_Silent_p.Q655Q	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	669					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CAAAATATCAATCGGTATCAT	0.308													A|||	1	0.000199681	0.0	0.0	5008	,	,		18782	0.001		0.0	False		,,,				2504	0.0					ENST00000231368.5		NA																	0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2005-2007)caA>caG		leucyl/cystinyl aminopeptidase							52.0	54.0	54.0					5																	96342191		2203	4296	6499	SO:0001819	synonymous_variant	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96342191A>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2007A>G	5.37:g.96342191A>G		False	False		Somatic	0				LNPEP_ENST00000395770.3_Silent_p.Q655Q	p.Q669Q	NM_005575.2	NP_005566.2	WXS	Illumina HiSeq	Phase_I	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	11	2699	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	669					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	c.2007A>G	CCDS4087.1																																																																																				0.308	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	0	NM_005575		5:96342191
RALYL	138046	broad.mit.edu	37	8	85774611	85774611	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:85774611C>T	ENST00000521268.1	+	6	1599	c.494C>T	c.(493-495)aCg>aTg	p.T165M	RALYL_ENST00000521695.1_Missense_Mutation_p.T165M|RALYL_ENST00000517638.1_Missense_Mutation_p.T178M|RALYL_ENST00000522455.1_Missense_Mutation_p.T165M|RALYL_ENST00000523850.1_Missense_Mutation_p.T92M|RALYL_ENST00000521376.1_Missense_Mutation_p.T76M|RALYL_ENST00000518566.1_Missense_Mutation_p.T154M	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	165							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCAGTCACAACGACTCGCAGG	0.483																																						ENST00000521268.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(493-495)aCg>aTg		RALY RNA binding protein-like							56.0	61.0	59.0					8																	85774611		1929	4136	6065	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774611C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.494C>T	8.37:g.85774611C>T	ENSP00000430367:p.Thr165Met	False	False		Somatic	0				RALYL_ENST00000521376.1_Missense_Mutation_p.T76M|RALYL_ENST00000517638.1_Missense_Mutation_p.T178M|RALYL_ENST00000522455.1_Missense_Mutation_p.T165M|RALYL_ENST00000518566.1_Missense_Mutation_p.T154M|RALYL_ENST00000523850.1_Missense_Mutation_p.T92M|RALYL_ENST00000521695.1_Missense_Mutation_p.T165M	p.T165M	NM_173848.5	NP_776247.3	WXS	Illumina HiSeq	Phase_I	Q86SE5	RALYL_HUMAN			6	1599	+			165					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.494C>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526572	0.64860	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.18657	2.83;2.83;2.83;2.85;2.83;2.42;2.2	5.1	5.1	0.69264	.	0.214143	0.49305	D	0.000143	T	0.35941	0.0949	M	0.61703	1.905	0.09310	N	1	P;D;P;P;D	0.60160	0.791;0.987;0.939;0.93;0.987	B;P;B;P;P	0.51016	0.336;0.588;0.337;0.656;0.588	T	0.19192	-1.0313	10	0.62326	D	0.03	-3.4988	18.8851	0.92375	0.0:1.0:0.0:0.0	.	154;165;92;178;165	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	M	165;165;165;154;178;92;76	ENSP00000430394:T165M;ENSP00000428667:T165M;ENSP00000430367:T165M;ENSP00000430065:T154M;ENSP00000430128:T178M;ENSP00000428807:T92M;ENSP00000428310:T76M	ENSP00000430128:T178M	T	+	2	0	RALYL	85937166	0.679000	0.27596	0.011000	0.14972	0.798000	0.45092	5.613000	0.67688	2.511000	0.84671	0.551000	0.68910	ACG		0.483	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1	0			8:85774611
ARHGAP21	57584	broad.mit.edu	37	10	24874291	24874291	+	Missense_Mutation	SNP	C	C	T	rs1143061		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr10:24874291C>T	ENST00000396432.2	-	26	5413	c.4927G>A	c.(4927-4929)Gtg>Atg	p.V1643M		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1642	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGGGGAACACGGGAAACTCG	0.532																																						ENST00000396432.2		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4927-4929)Gtg>Atg		Rho GTPase activating protein 21							71.0	75.0	73.0					10																	24874291		2203	4299	6502	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874291C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4927G>A	10.37:g.24874291C>T	ENSP00000379709:p.Val1643Met	True	False		Somatic	0					p.V1643M	NM_020824.3	NP_065875.3	WXS	Illumina HiSeq	Phase_I	Q5T5U3	RHG21_HUMAN			26	5413	-			1642			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4927G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	3.155	-0.173447	0.06421	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.13901	2.55	5.19	-0.0832	0.13695	.	0.329273	0.31797	N	0.007043	T	0.07999	0.0200	L	0.55834	1.745	0.22754	N	0.998774	P	0.39352	0.669	B	0.27076	0.076	T	0.25117	-1.0141	10	0.46703	T	0.11	.	1.9574	0.03379	0.1301:0.4116:0.2524:0.206	rs1143061;rs3206462	1642	Q5T5U3	RHG21_HUMAN	M	1643;1092	ENSP00000379709:V1643M	ENSP00000379709:V1643M	V	-	1	0	ARHGAP21	24914297	0.810000	0.29049	0.000000	0.03702	0.007000	0.05969	1.633000	0.37113	-0.062000	0.13088	-0.974000	0.02594	GTG		0.532	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	0	NM_020824		10:24874291
ARAP1	116985	broad.mit.edu	37	11	72408662	72408662	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:72408662C>T	ENST00000393609.3	-	20	2972	c.2770G>A	c.(2770-2772)Gtg>Atg	p.V924M	ARAP1_ENST00000426523.1_Missense_Mutation_p.V679M|ARAP1_ENST00000393605.3_Missense_Mutation_p.V684M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.V924M|ARAP1_ENST00000334211.8_Missense_Mutation_p.V679M|ARAP1_ENST00000455638.2_Missense_Mutation_p.V924M|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.V618M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	924					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCACCAGCACCAGCACCTGG	0.637																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5		NA																	0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2770-2772)Gtg>Atg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							108.0	94.0	99.0					11																	72408662		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72408662C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2770G>A	11.37:g.72408662C>T	ENSP00000377233:p.Val924Met	True	False		Somatic	0				ARAP1_ENST00000334211.8_Missense_Mutation_p.V679M|ARAP1_ENST00000393609.3_Missense_Mutation_p.V924M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.V679M|ARAP1_ENST00000429686.1_Missense_Mutation_p.V618M|ARAP1_ENST00000455638.2_Missense_Mutation_p.V924M|ARAP1_ENST00000393605.3_Missense_Mutation_p.V684M	p.V924M			WXS	Illumina HiSeq	Phase_I	Q96P48	ARAP1_HUMAN			20	3621	-			924					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2770G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694061	0.88735	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.93	4.93	0.64822	Pleckstrin homology domain (1);	0.133016	0.49916	D	0.000132	T	0.48926	0.1527	L	0.54323	1.7	0.41335	D	0.987265	P;D;P;P;P	0.69078	0.843;0.997;0.881;0.843;0.903	P;P;P;P;P	0.61533	0.779;0.845;0.746;0.677;0.89	T	0.52019	-0.8631	10	0.87932	D	0	.	17.0897	0.86618	0.0:1.0:0.0:0.0	.	679;618;924;924;684	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	M	924;924;684;679;924;679;618;212;212	ENSP00000352332:V924M;ENSP00000390461:V924M;ENSP00000377230:V684M;ENSP00000335506:V679M;ENSP00000377233:V924M;ENSP00000392264:V679M;ENSP00000403127:V618M;ENSP00000411452:V212M;ENSP00000399118:V212M	ENSP00000335506:V679M	V	-	1	0	ARAP1	72086310	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.823000	0.48081	2.435000	0.82474	0.563000	0.77884	GTG		0.637	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	0	NM_001040118		11:72408662
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	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
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	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	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	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)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(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						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		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.chr12:25398284C>T	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.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	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	226	-	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.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	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		12:25398284
PCDHA3	56145	broad.mit.edu	37	5	140181070	140181070	+	Silent	SNP	C	C	T	rs529252017		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:140181070C>T	ENST00000522353.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.C96C|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTGTGCGGGCGGAGCG	0.552													.|||	1	0.000199681	0.0	0.0	5008	,	,		17612	0.0		0.0	False		,,,				2504	0.001					ENST00000522353.2		NA																	0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(286-288)tgC>tgT									128.0	143.0	138.0					5																	140181070		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140181070C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.288C>T	5.37:g.140181070C>T		True	False		Somatic	0				PCDHA3_ENST00000532566.2_Silent_p.C96C|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.C96C	NM_018906.2	NP_061729.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	288	+			NA					O75286	Silent	SNP	ENST00000522353.2	37	c.288C>T	CCDS54915.1																																																																																				0.552	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	0	NM_018906		5:140181070
NMS	129521	broad.mit.edu	37	2	101089991	101089991	+	Missense_Mutation	SNP	G	G	A	rs201102943		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:101089991G>A	ENST00000376865.1	+	3	180	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	58					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CCTCTTTCTCGCCAACCTAAG	0.343													G|||	1	0.000199681	0.0	0.0014	5008	,	,		9711	0.0		0.0	False		,,,				2504	0.0					ENST00000376865.1		NA																	0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(172-174)cGc>cAc		neuromedin S							47.0	46.0	46.0					2																	101089991		2177	4298	6475	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101089991G>A	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.173G>A	2.37:g.101089991G>A	ENSP00000366061:p.Arg58His	False	False		Somatic	0					p.R58H	NM_001011717.1	NP_001011717.1	WXS	Illumina HiSeq	Phase_I	Q5H8A3	NMS_HUMAN			3	180	+			58						Missense_Mutation	SNP	ENST00000376865.1	37	c.173G>A	CCDS33259.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.177	-0.168837	0.06461	.	.	ENSG00000204640	ENST00000376865	T	0.23754	1.89	3.81	-3.39	0.04868	.	1.207740	0.05936	N	0.636093	T	0.16428	0.0395	L	0.44542	1.39	0.09310	N	1	P	0.46220	0.874	B	0.35971	0.215	T	0.25222	-1.0138	10	0.45353	T	0.12	3.2782	4.8169	0.13371	0.5921:0.0:0.2415:0.1664	.	58	Q5H8A3	NMS_HUMAN	H	58	ENSP00000366061:R58H	ENSP00000366061:R58H	R	+	2	0	NMS	100456423	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.190000	0.09615	-0.676000	0.05238	0.650000	0.86243	CGC		0.343	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	0	NM_001011717		2:101089991
ITGA6	3655	broad.mit.edu	37	2	173333951	173333951	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:173333951G>T	ENST00000264106.6	+	4	689	c.486G>T	c.(484-486)agG>agT	p.R162S	ITGA6_ENST00000343713.4_Missense_Mutation_p.R162S|ITGA6_ENST00000264107.7_Missense_Mutation_p.R162S|ITGA6_ENST00000375221.2_Missense_Mutation_p.R162S|ITGA6_ENST00000409532.1_Missense_Mutation_p.R48S|ITGA6_ENST00000409080.1_Missense_Mutation_p.R162S			P23229	ITA6_HUMAN	integrin, alpha 6	162					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAATCTCAGGATTGAAGACG	0.473																																						ENST00000375221.2		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(484-486)agG>agT		integrin, alpha 6							179.0	172.0	175.0					2																	173333951		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173333951G>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.486G>T	2.37:g.173333951G>T	ENSP00000264106:p.Arg162Ser	False	False		Somatic	0				ITGA6_ENST00000343713.4_Missense_Mutation_p.R162S|ITGA6_ENST00000409532.1_Missense_Mutation_p.R48S|ITGA6_ENST00000409080.1_Missense_Mutation_p.R162S|ITGA6_ENST00000264107.7_Missense_Mutation_p.R162S|ITGA6_ENST00000264106.6_Missense_Mutation_p.R162S	p.R162S			WXS	Illumina HiSeq	Phase_I	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		4	689	+			162					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.486G>T		.	.	.	.	.	.	.	.	.	.	G	11.49	1.653589	0.29425	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	6.17	-0.233	0.13078	.	0.138320	0.64402	D	0.000003	T	0.23370	0.0565	N	0.01152	-0.98	0.36788	D	0.884674	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.18555	-1.0333	10	0.06365	T	0.9	.	0.6097	0.00759	0.3751:0.2013:0.241:0.1826	.	162;162;162	P23229-4;G5E9H1;P23229-2	.;.;.	S	48;48;162;162;162;162;162;162;162	ENSP00000413470:R48S;ENSP00000386614:R48S;ENSP00000264107:R162S;ENSP00000264106:R162S;ENSP00000364369:R162S;ENSP00000341078:R162S;ENSP00000386896:R162S;ENSP00000406694:R162S;ENSP00000394169:R162S	ENSP00000264106:R162S	R	+	3	2	ITGA6	173042197	0.334000	0.24739	1.000000	0.80357	0.995000	0.86356	0.224000	0.17738	0.471000	0.27319	0.655000	0.94253	AGG		0.473	ITGA6-201	KNOWN	basic	protein_coding	protein_coding		0			2:173333951
NPLOC4	55666	broad.mit.edu	37	17	79556050	79556050	+	Silent	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:79556050G>A	ENST00000331134.6	-	12	1416	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	NPLOC4_ENST00000374747.5_Silent_p.L401L|NPLOC4_ENST00000539314.1_Silent_p.L240L	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	401					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTGCATGGCAGCAAACACTCA	0.498																																						ENST00000374747.5		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1201-1203)Ctg>Ttg		nuclear protein localization 4 homolog (S. cerevisiae)							89.0	93.0	92.0					17																	79556050		2072	4226	6298	SO:0001819	synonymous_variant	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79556050G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1201C>T	17.37:g.79556050G>A		False	False		Somatic	0				NPLOC4_ENST00000539314.1_Silent_p.L240L|NPLOC4_ENST00000331134.6_Silent_p.L401L	p.L401L			WXS	Illumina HiSeq	Phase_I	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		12	1330	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		401					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	ENST00000331134.6	37	c.1201C>T	CCDS45812.1																																																																																				0.498	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1	0			17:79556050
FAM217B	63939	broad.mit.edu	37	20	58519968	58519968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:58519968C>T	ENST00000358293.3	+	5	1385	c.970C>T	c.(970-972)Cga>Tga	p.R324*	FAM217B_ENST00000360816.3_Nonsense_Mutation_p.R324*|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	324																	CGGTCACATTCGAGTTCCCAA	0.488																																						ENST00000358293.3		NA																	0					NA						c.(970-972)Cga>Tga		family with sequence similarity 217, member B							65.0	68.0	67.0					20																	58519968		2203	4300	6503	SO:0001587	stop_gained	63939							g.chr20:58519968C>T	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.970C>T	20.37:g.58519968C>T	ENSP00000351040:p.Arg324*	False	False		Somatic	0				FAM217B_ENST00000360816.3_Nonsense_Mutation_p.R324*|FAM217B_ENST00000469084.1_3'UTR	p.R324*	NM_001190826.1	NP_001177755.1	WXS	Illumina HiSeq	Phase_I	Q9NTX9	CT177_HUMAN			5	1385	+			324					B3KWH1|Q9NTA3	Nonsense_Mutation	SNP	ENST00000358293.3	37	c.970C>T	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	C	37	6.038963	0.97226	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	.	.	.	5.1	2.94	0.34122	.	0.512737	0.15763	N	0.245848	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.475	11.9532	0.52966	0.3897:0.6103:0.0:0.0	.	.	.	.	X	324	.	ENSP00000351040:R324X	R	+	1	2	C20orf177	57953363	0.176000	0.23096	0.128000	0.21923	0.038000	0.13279	0.941000	0.29005	2.354000	0.79902	0.591000	0.81541	CGA		0.488	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	0	NM_022106		20:58519968
RORB	6096	broad.mit.edu	37	9	77282784	77282784	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:77282784G>A	ENST00000396204.2	+	8	1111	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	RORB_ENST00000376896.3_Missense_Mutation_p.A360T			Q92753	RORB_HUMAN	RAR-related orphan receptor B	371	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GGAGGAGATCGCTTTGTTCTC	0.388																																						ENST00000376896.3		NA																	0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1078-1080)Gct>Act		RAR-related orphan receptor B							207.0	180.0	189.0					9																	77282784		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77282784G>A	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1111G>A	9.37:g.77282784G>A	ENSP00000379507:p.Ala371Thr	False	False		Somatic	0				RORB_ENST00000396204.2_Missense_Mutation_p.A371T	p.A360T	NM_006914.3	NP_008845.2	WXS	Illumina HiSeq	Phase_I	Q92753	RORB_HUMAN			8	1690	+			NA			Ligand-binding (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.1078G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.715486	0.96830	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97575	-4.44;-4.44	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.092611	0.64402	D	0.000001	D	0.98689	0.9560	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.98965	1.0799	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	371;360	Q92753;Q58EY0	RORB_HUMAN;.	T	360;371	ENSP00000366093:A360T;ENSP00000379507:A371T	ENSP00000366093:A360T	A	+	1	0	RORB	76472604	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.775000	0.98995	2.941000	0.99782	0.655000	0.94253	GCT		0.388	RORB-201	KNOWN	basic	protein_coding	protein_coding		0			9:77282784
ROCK2	9475	broad.mit.edu	37	2	11337396	11337396	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:11337396G>A	ENST00000315872.6	-	27	3806	c.3358C>T	c.(3358-3360)Cgg>Tgg	p.R1120W	ROCK2_ENST00000401753.1_Missense_Mutation_p.R877W	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1120					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGTTGTGACCGCAGCTGCTCA	0.438																																						ENST00000315872.6		NA																	0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3358-3360)Cgg>Tgg		Rho-associated, coiled-coil containing protein kinase 2							125.0	119.0	121.0					2																	11337396		1980	4166	6146	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11337396G>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3358C>T	2.37:g.11337396G>A	ENSP00000317985:p.Arg1120Trp	False	False		Somatic	0				ROCK2_ENST00000401753.1_Missense_Mutation_p.R877W	p.R1120W	NM_004850.3	NP_004841.2	WXS	Illumina HiSeq	Phase_I	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	27	3806	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1120					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.3358C>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302523	0.81136	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64803	-0.12;0.93	5.72	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.71581	2.175	0.58432	D	0.999994	D	0.89917	1.0	D	0.71414	0.973	T	0.80453	-0.1376	10	0.87932	D	0	.	14.8283	0.70130	0.0692:0.0:0.9308:0.0	.	1120	O75116	ROCK2_HUMAN	W	1120;877;478	ENSP00000317985:R1120W;ENSP00000385509:R877W	ENSP00000317985:R1120W	R	-	1	2	ROCK2	11254847	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.726000	0.54977	1.418000	0.47098	0.563000	0.77884	CGG		0.438	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3	0			2:11337396
KCNJ9	3765	broad.mit.edu	37	1	160054516	160054516	+	Silent	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:160054516C>T	ENST00000368088.3	+	2	938	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	232					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGTGGGCTTCGACACGGGAG	0.682																																						ENST00000368088.3		NA																	0				biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16						c.(694-696)ttC>ttT		potassium inwardly-rectifying channel, subfamily J, member 9							12.0	11.0	12.0					1																	160054516		2199	4289	6488	SO:0001819	synonymous_variant	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054516C>T	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.696C>T	1.37:g.160054516C>T		False	False		Somatic	0					p.F232F	NM_004983.2	NP_004974.2	WXS	Illumina HiSeq	Phase_I	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	938	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		232					Q5JW75	Silent	SNP	ENST00000368088.3	37	c.696C>T	CCDS1194.1																																																																																				0.682	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	0	NM_004983		1:160054516
STAB1	23166	broad.mit.edu	37	3	52555958	52555958	+	Missense_Mutation	SNP	G	G	A	rs386660931|rs144247661		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:52555958G>A	ENST00000321725.6	+	58	6338	c.6262G>A	c.(6262-6264)Gtg>Atg	p.V2088M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2088	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.V2088L(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGGCCGTGTGTGTACAGG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20757	0.0		0.0	False		,,,				2504	0.0					ENST00000321725.6		NA																	1	Substitution - Missense(1)	p.V2088L(1)	endometrium(1)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6262-6264)Gtg>Atg		stabilin 1		G	MET/VAL	3,4401	2.1+/-5.4	0,3,2199	122.0	117.0	119.0		6262	-2.3	0.0	3	dbSNP_134	119	0,8600		0,0,4300	yes	missense	STAB1	NM_015136.2	21	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	2088/2571	52555958	3,13001	2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52555958G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6262G>A	3.37:g.52555958G>A	ENSP00000312946:p.Val2088Met	True	False		Somatic	0					p.V2088M	NM_015136.2	NP_055951.2	WXS	Illumina HiSeq	Phase_I	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	58	6338	+			2088			EGF-like 14.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6262G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	7.022	0.558925	0.13436	6.81E-4	0.0	ENSG00000010327	ENST00000321725	D	0.87571	-2.27	5.75	-2.33	0.06724	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	1.447070	0.03638	N	0.239087	T	0.71005	0.3289	N	0.08118	0	0.09310	N	1	P	0.38148	0.62	B	0.36885	0.235	T	0.64597	-0.6370	10	0.66056	D	0.02	.	0.7708	0.01024	0.384:0.1181:0.262:0.2359	.	2088	Q9NY15	STAB1_HUMAN	M	2088	ENSP00000312946:V2088M	ENSP00000312946:V2088M	V	+	1	0	STAB1	52530998	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.653000	0.24902	-0.277000	0.09193	-1.130000	0.01982	GTG		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	0	NM_015136		3:52555958
HSDL1	83693	broad.mit.edu	37	16	84164829	84164829	+	Missense_Mutation	SNP	G	G	A	rs143907842		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:84164829G>A	ENST00000219439.4	-	3	274	c.98C>T	c.(97-99)aCg>aTg	p.T33M	HSDL1_ENST00000434463.3_Missense_Mutation_p.T33M	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	33	Required for mitochondria translocation.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TTTTCTGGCCGTATACCAGGC	0.493																																						ENST00000219439.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(97-99)aCg>aTg		hydroxysteroid dehydrogenase like 1		G	MET/THR,MET/THR	0,4400		0,0,2200	122.0	118.0	119.0		98,98	5.8	1.0	16	dbSNP_134	119	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	HSDL1	NM_001146051.1,NM_031463.4	81,81	0,5,6495	AA,AG,GG		0.0581,0.0,0.0385	possibly-damaging,possibly-damaging	33/276,33/331	84164829	5,12995	2200	4300	6500	SO:0001583	missense	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84164829G>A	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	16475	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 3"""					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.98C>T	16.37:g.84164829G>A	ENSP00000219439:p.Thr33Met	False	False		Somatic	0				HSDL1_ENST00000434463.3_Missense_Mutation_p.T33M	p.T33M	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	WXS	Illumina HiSeq	Phase_I	Q3SXM5	HSDL1_HUMAN			3	274	-			33			Required for mitochondria translocation.		B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	ENST00000219439.4	37	c.98C>T	CCDS10942.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883945	0.51908	0.0	5.81E-4	ENSG00000103160	ENST00000434463;ENST00000219439	T;D	0.83163	-1.11;-1.69	5.84	5.84	0.93424	.	0.185252	0.47852	D	0.000218	T	0.74581	0.3735	N	0.17082	0.46	0.42561	D	0.993148	D;P	0.64830	0.994;0.812	P;B	0.45449	0.481;0.137	T	0.77161	-0.2689	10	0.45353	T	0.12	-18.6731	14.306	0.66384	0.0706:0.0:0.9294:0.0	.	33;33	B4DSL2;Q3SXM5	.;HSDL1_HUMAN	M	33	ENSP00000407437:T33M;ENSP00000219439:T33M	ENSP00000219439:T33M	T	-	2	0	HSDL1	82722330	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.371000	0.66150	2.765000	0.95021	0.655000	0.94253	ACG		0.493	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	0	NM_031463		16:84164829
DNMT3B	1789	broad.mit.edu	37	20	31388677	31388677	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:31388677G>A	ENST00000328111.2	+	18	2263	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	648	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGATTGGCGGAAGCCCATG	0.522																																						ENST00000328111.2		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1942-1944)Gga>Aga		DNA (cytosine-5-)-methyltransferase 3 beta							185.0	187.0	186.0					20																	31388677		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31388677G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1942G>A	20.37:g.31388677G>A	ENSP00000328547:p.Gly648Arg	False	False		Somatic	0				DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R	p.G648R	NM_006892.3	NP_008823.1	WXS	Illumina HiSeq	Phase_I	Q9UBC3	DNM3B_HUMAN			18	2263	+			648					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1942G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691842	0.96793	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.996;0.988;1.0;0.997;1.0;1.0	D	0.98850	1.0758	10	0.87932	D	0	-22.4387	19.2231	0.93806	0.0:0.0:1.0:0.0	.	552;586;347;640;628;628;648	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	R	648;628;628;586;552;628;640	ENSP00000328547:G648R;ENSP00000313397:G628R;ENSP00000337764:G628R;ENSP00000403169:G586R;ENSP00000412305:G552R;ENSP00000345105:G628R;ENSP00000201963:G640R	ENSP00000201963:G640R	G	+	1	0	DNMT3B	30852338	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.779000	0.99018	2.885000	0.99019	0.655000	0.94253	GGA		0.522	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	0	NM_006892		20:31388677
TTC27	55622	broad.mit.edu	37	2	33003024	33003024	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:33003024C>T	ENST00000317907.4	+	14	1987	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	586			R -> H (in dbSNP:rs17012268).							breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GGCATTTCAGCGCTGTGTGAC	0.438																																						ENST00000317907.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1756-1758)Cgc>Tgc		tetratricopeptide repeat domain 27							202.0	187.0	192.0					2																	33003024		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33003024C>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1756C>T	2.37:g.33003024C>T	ENSP00000313953:p.Arg586Cys	False	False		Somatic	0					p.R586C	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	WXS	Illumina HiSeq	Phase_I	Q6P3X3	TTC27_HUMAN			14	1987	+			586		R -> H (in dbSNP:rs17012268).			A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1756C>T	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557601	0.65425	.	.	ENSG00000018699	ENST00000317907	T	0.61859	0.07	5.32	5.32	0.75619	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049606	0.64402	D	0.000001	D	0.85230	0.5649	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90675	0.4601	10	0.87932	D	0	-9.9189	19.0041	0.92843	0.0:1.0:0.0:0.0	.	586	Q6P3X3	TTC27_HUMAN	C	586	ENSP00000313953:R586C	ENSP00000313953:R586C	R	+	1	0	TTC27	32856528	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	4.480000	0.60243	2.465000	0.83290	0.557000	0.71058	CGC		0.438	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	0	NM_017735		2:33003024
TG	7038	broad.mit.edu	37	8	133923730	133923730	+	Missense_Mutation	SNP	C	C	T	rs372280039		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:133923730C>T	ENST00000220616.4	+	19	4151	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	TG_ENST00000377869.1_Missense_Mutation_p.R1371W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1371					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGAAATCACGGCTTGAGGA	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20223	0.0		0.0	False		,,,				2504	0.0					ENST00000220616.4		NA																	0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4111-4113)Cgg>Tgg		thyroglobulin		C	TRP/ARG	0,4406		0,0,2203	239.0	213.0	222.0		4111	5.5	0.0	8		222	1,8599	1.2+/-3.3	0,1,4299	no	missense	TG	NM_003235.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1371/2769	133923730	1,13005	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133923730C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4111C>T	8.37:g.133923730C>T	ENSP00000220616:p.Arg1371Trp	False	False		Somatic	0				TG_ENST00000377869.1_Missense_Mutation_p.R1371W	p.R1371W	NM_003235.4	NP_003226.4	WXS	Illumina HiSeq	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	19	4151	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1371					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4111C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209064	0.79240	0.0	1.16E-4	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.64803	-0.11;-0.12	5.51	5.51	0.81932	.	1.131830	0.06509	N	0.737751	T	0.58495	0.2126	L	0.40543	1.245	0.09310	N	1	D	0.69078	0.997	B	0.40534	0.332	T	0.57774	-0.7753	10	0.72032	D	0.01	.	14.9365	0.70960	0.0:1.0:0.0:0.0	.	1371	P01266	THYG_HUMAN	W	1371;177;1371	ENSP00000367100:R1371W;ENSP00000220616:R1371W	ENSP00000220616:R1371W	R	+	1	2	TG	133992912	0.036000	0.19791	0.006000	0.13384	0.514000	0.34195	3.406000	0.52637	2.582000	0.87167	0.557000	0.71058	CGG		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	0	NM_003235		8:133923730
