#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
FAM21EP	100421577	broad.mit.edu	37	10	51819022	51819023	+	RNA	INS	-	-	CA			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:51819022_51819023insCA	ENST00000456967.1	-	0	1407_1408					NR_038275.1																						GGAGGCAGCACATCCGTGTCTC	0.515																																						ENST00000456967.1		NA																	0					NA																																														0							g.chr10:51819022_51819023insCA																													10.37:g.51819022_51819023insCA		False	False		Somatic	0						NR_038275.1		WXS	Illumina HiSeq	Phase_I					0	1407_1408	-			NA						RNA	INS	ENST00000456967.1	37																																																																																						0.515	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1	0			10:51819022
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|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_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_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
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
LOC101927016	101927016	broad.mit.edu	37	13	64320987	64321010	+	In_Frame_Del	DEL	TGGCTATGGCTCTGGTTATGGCTA	TGGCTATGGCTCTGGTTATGGCTA	-	rs2810821|rs190060383		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	TGGCTATGGCTCTGGTTATGGCTA	TGGCTATGGCTCTGGTTATGGCTA	-	-	TGGCTATGGCTCTGGTTATGGCTA	TGGCTATGGCTCTGGTTATGGCTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:64320987_64321010delTGGCTATGGCTCTGGTTATGGCTA	ENST00000453638.2	+	1	54_77	c.54_77delTGGCTATGGCTCTGGTTATGGCTA	c.(52-78)tgtggctatggctctggttatggctat>tgt	p.GYGSGYGY19del	RP11-473M10.3_ENST00000418943.1_lincRNA																endometrium(2)|lung(1)|urinary_tract(1)	4						gctatggctgtggctatggctctggttatggctatggctatggc	0.522																																						ENST00000453638.2		NA																	0				endometrium(2)|lung(1)|urinary_tract(1)	4						c.(52-78)tgtggctatggctctggttatggctat>tgt																																						SO:0001651	inframe_deletion	0							g.chr13:64320987_64321010delTGGCTATGGCTCTGGTTATGGCTA																												ENST00000453638.2:c.54_77delTGGCTATGGCTCTGGTTATGGCTA	13.37:g.64320987_64321010delTGGCTATGGCTCTGGTTATGGCTA	ENSP00000443634:p.Gly19_Tyr26del	False	False		Somatic	1					p.GYGSGYGY19del			WXS	Illumina HiSeq	Phase_I					1	54_77	+			NA						In_Frame_Del	DEL	ENST00000453638.2	37	c.54_77delTGGCTATGGCTCTGGTTATGGCTA																																																																																					0.522	AL445989.1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0			13:64320987
RSPH6A	81492	broad.mit.edu	37	19	46299149	46299150	+	In_Frame_Ins	INS	-	-	CCTCCTCCTCCTCGC			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:46299149_46299150insCCTCCTCCTCCTCGC	ENST00000221538.3	-	6	2273_2274	c.2131_2132insGCGAGGAGGAGGAGG	c.(2131-2133)gag>gGCGAGGAGGAGGAGGag	p.710_711insGEEEE	RSPH6A_ENST00000600188.1_In_Frame_Ins_p.446_447insGEEEE|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	710	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ctcctcgccctcctcctcctcc	0.559																																						ENST00000221538.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2131-2133)gag>gGCGAGGAGGAGGAGGag		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001652	inframe_insertion	81492					intracellular		g.chr19:46299149_46299150insCCTCCTCCTCCTCGC	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2117_2131dupGCGAGGAGGAGGAGG	19.37:g.46299149_46299150insCCTCCTCCTCCTCGC	ENSP00000221538:p.Gly706_Glu710dup	True	False		Somatic	0				RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Ins_p.446_447insGEEEE	p.710_711insGEEEE	NM_030785.3	NP_110412.1	WXS	Illumina HiSeq	Phase_I	Q9H0K4	RSH6A_HUMAN			6	2273_2274	-			710			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Ins	INS	ENST00000221538.3	37	c.2131_2132insGCGAGGAGGAGGAGG	CCDS12675.1																																																																																				0.559	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1	0			19:46299149
NLRP2	55655	broad.mit.edu	37	19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-	rs3745905|rs386811006|rs61735083	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Poly-Glu.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567																																						ENST00000543010.1		NA																	0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1564-1566)gaadel		NLR family, pyrin domain containing 2																																				SO:0001651	inframe_deletion	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494630_55494632delGAA	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1564_1566delGAA	19.37:g.55494630_55494632delGAA	ENSP00000445135:p.Glu523del	True	False		Somatic	1				NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del	p.E523del	NM_001174081.1	NP_001167552.1	WXS	Illumina HiSeq	Phase_I	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1707_1709	+			523			NACHT.|Poly-Glu.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	In_Frame_Del	DEL	ENST00000543010.1	37	c.1564_1566delGAA	CCDS12913.1																																																																																				0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	0	NM_017852		19:55494630
ZNF880	400713	broad.mit.edu	37	19	52888074	52888075	+	In_Frame_Ins	INS	-	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:52888074_52888075insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	ENST00000422689.2	+	4	1256_1257	c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	c.(1240-1245)ggcaaa>ggATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAcaaa	p.414_415GK>GS*GQEIETILANK		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	414					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATGAATGTGGCAAAGCATTTA	0.411																																						ENST00000422689.2		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(1240-1245)ggcaaa>ggATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAcaaa		zinc finger protein 880																																				SO:0001652	inframe_insertion	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52888074_52888075insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	Exception_encountered	19.37:g.52888074_52888075insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	ENSP00000406318:p.Gly414_Lys415insSer*GlyGlnGluIleGluThrIleLeuAlaAsn	True	False		Somatic	0					p.414_415GK>GS*GQEIETILANK	NM_001145434.1	NP_001138906.1	WXS	Illumina HiSeq	Phase_I	Q6PDB4	ZN880_HUMAN			4	1256_1257	+			414					B4DNA6	In_Frame_Ins	INS	ENST00000422689.2	37	c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	CCDS46164.1																																																																																				0.411	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	0	NM_001145434		19:52888074
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:46279833_46279834delGC	ENST00000371998.3	+	20	3950_3951	c.3759_3760delGC	c.(3757-3762)cagcaafs	p.QQ1253fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.QQ1249fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55																																						ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3750)cagcaafs		nuclear receptor coactivator 3																																				SO:0001589	frameshift_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833_46279834delGC	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759_3760delGC	20.37:g.46279833_46279834delGC	ENSP00000361066:p.Gln1253fs	True	False		Somatic	1				NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	p.QQ1249fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3963_3964	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	37	c.3747_3748delGC	CCDS13407.1																																																																																				0.550	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279833
TFAP2C	7022	broad.mit.edu	37	20	55212855	55212856	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:55212855_55212856delCA	ENST00000201031.2	+	7	1382_1383	c.1139_1140delCA	c.(1138-1140)ccafs	p.P380fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	380	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AGGCTCGCCCCAGTCTTGGAGA	0.55																																						ENST00000201031.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1138-1140)ccafs		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)																																				SO:0001589	frameshift_variant	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55212855_55212856delCA		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1139_1140delCA	20.37:g.55212855_55212856delCA	ENSP00000201031:p.Pro380fs	True	False		Somatic	1				TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	p.P380fs	NM_003222.3	NP_003213.1	WXS	Illumina HiSeq	Phase_I	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		7	1382_1383	+			380			H-S-H (helix-span-helix), dimerization.		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Frame_Shift_Del	DEL	ENST00000201031.2	37	c.1139_1140delCA	CCDS13454.1																																																																																				0.550	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	0	NM_003222		20:55212855
KRTAP10-6	386674	broad.mit.edu	37	21	46012231	46012232	+	Frame_Shift_Ins	INS	-	-	CT	rs367621282	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46012231_46012232insCT	ENST00000400368.1	-	1	154_155	c.134_135insAG	c.(133-135)cccfs	p.P45fs	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	45	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGGCGCAGCAGGGGGGCTCACA	0.683																																						ENST00000400368.1		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(133-135)cccfs		keratin associated protein 10-6			,	400,3562		1,398,1582					,	1.4	1.0		dbSNP_130	27	1308,6696		0,1308,2694	no	frameshift,intron	TSPEAR,KRTAP10-6	NM_198688.2,NM_144991.2	,	1,1706,4276	A1A1,A1R,RR		16.3418,10.0959,14.2738	,	,		1708,10258				SO:0001589	frameshift_variant	386674					keratin filament		g.chr21:46012231_46012232insCT	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.134_135insAG	21.37:g.46012231_46012232insCT	ENSP00000383219:p.Pro45fs	True	False		Somatic	0				TSPEAR_ENST00000323084.4_Intron	p.P45fs	NM_198688.2	NP_941961.2	WXS	Illumina HiSeq	Phase_I	P60371	KR106_HUMAN			1	154_155	-			45			29 X 5 AA repeats of C-C-X(3).			Frame_Shift_Ins	INS	ENST00000400368.1	37	c.134_135insAG	CCDS42959.1																																																																																				0.683	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	0	NM_198688		21:46012231
CFAP36	112942	broad.mit.edu	37	2	55772051	55772052	+	Frame_Shift_Del	DEL	AG	AG	-	rs373330967		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:55772051_55772052delAG	ENST00000349456.4	+	10	1084_1085	c.936_937delAG	c.(934-939)acagagfs	p.E313fs	CCDC104_ENST00000339012.3_Frame_Shift_Del_p.E338fs|CCDC104_ENST00000407816.3_Frame_Shift_Del_p.E284fs			Q96G28	CFA36_HUMAN		313										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGAAATGACAGAGAAACCAGA	0.332																																						ENST00000349456.4		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(934-939)acagagfs		coiled-coil domain containing 104																																				SO:0001589	frameshift_variant	112942							g.chr2:55772051_55772052delAG																												ENST00000349456.4:c.936_937delAG	2.37:g.55772053_55772054delAG	ENSP00000295117:p.Glu313fs	False	False		Somatic	2				CCDC104_ENST00000339012.3_Frame_Shift_Del_p.E338fs|CCDC104_ENST00000407816.3_Frame_Shift_Del_p.E284fs	p.E313fs			WXS	Illumina HiSeq	Phase_I	Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	1084_1085	+			313					Q53SF0|Q53ST9|Q6UY34	Frame_Shift_Del	DEL	ENST00000349456.4	37	c.936_937delAG	CCDS1854.2																																																																																				0.332	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2	0			2:55772051
SLC9A2	6549	broad.mit.edu	37	2	103299834	103299835	+	In_Frame_Ins	INS	-	-	ATCTTC			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:103299834_103299835insATCTTC	ENST00000233969.2	+	4	1261_1262	c.1119_1120insATCTTC	c.(1120-1122)atc>ATCTTCatc	p.374_374I>IFI		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	374					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCGAAACCTTGATCTTCATCTT	0.485																																						ENST00000233969.2		NA																	0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1120-1122)atc>ATCTTCatc		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2																																				SO:0001652	inframe_insertion	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103299834_103299835insATCTTC		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1126_1131dupATCTTC	2.37:g.103299835_103299840dupATCTTC	Exception_encountered	False	False		Somatic	1					p.374_374I>IFI	NM_003048.3	NP_003039.2	WXS	Illumina HiSeq	Phase_I	Q9UBY0	SL9A2_HUMAN			4	1261_1262	+			374					B2RMS2	In_Frame_Ins	INS	ENST00000233969.2	37	c.1119_1120insATCTTC	CCDS2062.1																																																																																				0.485	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2	0			2:103299834
HES6	55502	broad.mit.edu	37	2	239147781	239147785	+	Frame_Shift_Del	DEL	ACGGT	ACGGT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	ACGGT	ACGGT	-	-	ACGGT	ACGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:239147781_239147785delACGGT	ENST00000272937.5	-	4	576_580	c.358_362delACCGT	c.(358-363)accgtcfs	p.TV120fs	AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Frame_Shift_Del_p.TV118fs|HES6_ENST00000409160.3_Frame_Shift_Del_p.YR198fs|HES6_ENST00000409574.1_Frame_Shift_Del_p.PS107fs|HES6_ENST00000409182.1_Frame_Shift_Del_p.TV91fs					hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTCGGCAGCGACGGTAGCGTCGATG	0.668																																						ENST00000409160.3		NA																	0				lung(1)|skin(1)	2						c.(592-597)taccgtfs		hes family bHLH transcription factor 6																																				SO:0001589	frameshift_variant	55502				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr2:239147781_239147785delACGGT	AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"""Basic helix-loop-helix proteins"""	18254	protein-coding gene	gene with protein product		610331	"""hairy and enhancer of split 6 (Drosophila)"""			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000272937.5:c.358_362delACCGT	2.37:g.239147781_239147785delACGGT	ENSP00000272937:p.Thr120fs	False	False		Somatic	1				HES6_ENST00000272937.5_Frame_Shift_Del_p.TV120fs|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409182.1_Frame_Shift_Del_p.TV91fs|HES6_ENST00000409574.1_Frame_Shift_Del_p.PS107fs|HES6_ENST00000409002.3_Frame_Shift_Del_p.TV118fs	p.YR198fs	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	WXS	Illumina HiSeq	Phase_I	Q96HZ4	HES6_HUMAN		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)	3	725_729	-		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	0						Frame_Shift_Del	DEL	ENST00000272937.5	37	c.593_597delACCGT	CCDS2527.1																																																																																				0.668	HES6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257170.2	0	NM_018645		2:239147781
KIF1A	547	broad.mit.edu	37	2	241700765	241700776	+	In_Frame_Del	DEL	CCAGCTCACACT	CCAGCTCACACT	-			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	CCAGCTCACACT	CCAGCTCACACT	-	-	CCAGCTCACACT	CCAGCTCACACT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:241700765_241700776delCCAGCTCACACT	ENST00000320389.7	-	23	2266_2277	c.2108_2119delAGTGTGAGCTGG	c.(2107-2121)gagtgtgagctggcg>gcg	p.ECEL703del	KIF1A_ENST00000498729.2_In_Frame_Del_p.ECEL712del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	703					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCCCAGAGCGCCAGCTCACACTCCCGCTCTGT	0.632																																						ENST00000320389.7		NA																	0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2107-2121)gagtgtgagctggcg>gcg		kinesin family member 1A																																				SO:0001651	inframe_deletion	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241700765_241700776delCCAGCTCACACT	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2108_2119delAGTGTGAGCTGG	2.37:g.241700765_241700776delCCAGCTCACACT	ENSP00000322791:p.Glu703_Leu706del	False	False		Somatic	1				KIF1A_ENST00000498729.2_In_Frame_Del_p.ECEL712del	p.ECEL703del	NM_004321.6	NP_004312.2	WXS	Illumina HiSeq	Phase_I	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	23	2266_2277	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	703					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL	ENST00000320389.7	37	c.2108_2119delAGTGTGAGCTGG	CCDS46561.1																																																																																				0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	0	NM_138483		2:241700765
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
DNAH11	8701	broad.mit.edu	37	7	21599227	21599227	+	Silent	SNP	G	G	A	rs373971291		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:21599227G>A	ENST00000409508.3	+	4	730	c.699G>A	c.(697-699)ccG>ccA	p.P233P	DNAH11_ENST00000328843.6_Silent_p.P233P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	233	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGGCCACCGTCAAACGAAA	0.308									Kartagener syndrome																													ENST00000328843.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(697-699)ccG>ccA		dynein, axonemal, heavy chain 11		G		0,3650		0,0,1825	60.0	58.0	59.0		699	-3.4	0.0	7		59	1,8153		0,1,4076	no	coding-synonymous	DNAH11	NM_003777.3		0,1,5901	AA,AG,GG		0.0123,0.0,0.0085		233/4524	21599227	1,11803	1825	4077	5902	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21599227G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.699G>A	7.37:g.21599227G>A		False	False		Somatic	0				DNAH11_ENST00000409508.3_Silent_p.P233P	p.P233P			WXS	Illumina HiSeq	Phase_I	Q96DT5	DYH11_HUMAN			4	730	+			233			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.699G>A																																																																																					0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	NM_003777		7:21599227
CDKN2A	1029	broad.mit.edu	37	9	21974704	21974704	+	Silent	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974704C>A	ENST00000304494.5	-	1	393	c.123G>T	c.(121-123)ccG>ccT	p.P41P	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.P41P|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Silent_p.P41P|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	41					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.?(23)|p.0(1)|p.V28_V51del(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)		CGTAACTATTCGGTGCGTTGG	0.697		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(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						c.(121-123)ccG>ccT		cyclin-dependent kinase inhibitor 2A							46.0	56.0	52.0					9																	21974704		2202	4300	6502	SO:0001819	synonymous_variant	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.chr9:21974704C>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.123G>T	9.37:g.21974704C>A		False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.P41P|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron	p.P41P	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)	1	393	-		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)	41					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	ENST00000304494.5	37	c.123G>T	CCDS6510.1																																																																																				0.697	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21974704
C5orf42	65250	broad.mit.edu	37	5	37187926	37187926	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:37187926C>A	ENST00000508244.1	-	21	3923	c.3830G>T	c.(3829-3831)tGt>tTt	p.C1277F	C5orf42_ENST00000425232.2_Missense_Mutation_p.C1277F|C5orf42_ENST00000274258.7_Missense_Mutation_p.C158F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1277						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACACAGAGCACAAAGTTCTCT	0.358																																						ENST00000274258.7		NA																	0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(472-474)tGt>tTt		chromosome 5 open reading frame 42							81.0	77.0	78.0					5																	37187926		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37187926C>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3830G>T	5.37:g.37187926C>A	ENSP00000421690:p.Cys1277Phe	True	False		Somatic	0				C5orf42_ENST00000508244.1_Missense_Mutation_p.C1277F|C5orf42_ENST00000425232.2_Missense_Mutation_p.C1277F	p.C158F			WXS	Illumina HiSeq	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		22	4060	-	all_lung(31;0.000616)		1277					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.473G>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644168	0.87859	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.75367	-0.77;-0.77;-0.93;-0.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	L	0.32530	0.975	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83156	-0.0101	10	0.87932	D	0	.	19.7365	0.96208	0.0:1.0:0.0:0.0	.	1277;158	E9PH94;Q9H799	.;CE042_HUMAN	F	1277;1277;158;325;158	ENSP00000421690:C1277F;ENSP00000389014:C1277F;ENSP00000274258:C158F;ENSP00000424223:C325F	ENSP00000274258:C158F	C	-	2	0	C5orf42	37223683	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.568000	0.73987	2.749000	0.94314	0.491000	0.48974	TGT		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	0	NM_023073		5:37187926
L1CAM	3897	broad.mit.edu	37	X	153138054	153138054	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:153138054C>G	ENST00000370060.1	-	4	379	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	64	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTGCACTTCGGGCTTGCCA	0.602																																						ENST00000370060.1		NA																	0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(190-192)Gaa>Caa		L1 cell adhesion molecule							91.0	70.0	77.0					X																	153138054		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153138054C>G	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.190G>C	X.37:g.153138054C>G	ENSP00000359077:p.Glu64Gln	True	False		Somatic	0				L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q	p.E64Q	NM_001278116.1	NP_001265045.1	WXS	Illumina HiSeq	Phase_I	P32004	L1CAM_HUMAN			4	379	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		64			Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.190G>C	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329577	0.24167	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.69	1.83	0.25207	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182154	0.37095	N	0.002256	T	0.11196	0.0273	N	0.21240	0.645	0.09310	N	1	B;B;B	0.18741	0.03;0.008;0.01	B;B;B	0.30179	0.112;0.046;0.076	T	0.26849	-1.0091	10	0.35671	T	0.21	.	13.9763	0.64275	0.0:0.3682:0.6318:0.0	.	59;64;64	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	Q	64;66;64;66;59;59;64;64;59;59;64	ENSP00000359077:E64Q;ENSP00000438430:E66Q;ENSP00000359074:E64Q;ENSP00000439645:E66Q;ENSP00000354712:E59Q;ENSP00000359072:E59Q;ENSP00000355380:E64Q;ENSP00000402407:E64Q;ENSP00000384902:E59Q;ENSP00000392524:E59Q;ENSP00000396079:E64Q	ENSP00000355380:E64Q	E	-	1	0	L1CAM	152791248	0.001000	0.12720	0.195000	0.23364	0.913000	0.54294	-0.399000	0.07250	0.066000	0.16515	0.529000	0.55759	GAA		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	0	NM_024003		X:153138054
ACSM2B	348158	broad.mit.edu	37	16	20566614	20566614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:20566614C>T	ENST00000329697.6	-	4	741	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W112*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	191					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGAAGTTCAGCCACCCATCGC	0.443																																						ENST00000329697.6		NA																	0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(571-573)tgG>tgA		acyl-CoA synthetase medium-chain family member 2B							243.0	229.0	234.0					16																	20566614		2201	4300	6501	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20566614C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.573G>A	16.37:g.20566614C>T	ENSP00000327453:p.Trp191*	False	False		Somatic	0				ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W112*	p.W191*	NM_001105069.1	NP_001098539.1	WXS	Illumina HiSeq	Phase_I	Q68CK6	ACS2B_HUMAN			4	741	-			191					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.573G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	39	7.660205	0.98419	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	.	.	.	3.11	2.13	0.27403	.	0.000000	0.41605	D	0.000844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5735	10.4961	0.44778	0.1964:0.8036:0.0:0.0	.	.	.	.	X	191	.	ENSP00000327453:W191X	W	-	3	0	ACSM2B	20474115	1.000000	0.71417	0.988000	0.46212	0.752000	0.42762	4.073000	0.57570	0.618000	0.30179	0.609000	0.83330	TGG		0.443	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	0	NM_182617		16:20566614
RNF39	80352	broad.mit.edu	37	6	30043491	30043491	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:30043491C>T	ENST00000244360.6	-	1	173	c.76G>A	c.(76-78)Gca>Aca	p.A26T	RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	26						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TTAACTTTTGCCGCTTTCCGC	0.602																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6		NA																	0					NA						c.(76-78)Gca>Aca		ring finger protein 39							51.0	53.0	53.0					6																	30043491		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043491C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.76G>A	6.37:g.30043491C>T	ENSP00000244360:p.Ala26Thr	False	False		Somatic	0				RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	p.A26T	NM_025236.3	NP_079512.2	WXS	Illumina HiSeq	Phase_I	Q9H2S5	RNF39_HUMAN			1	173	-			26					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.76G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	17.05	3.290422	0.59976	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.70749	-0.03;-0.51	3.51	0.223	0.15292	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.17137	-1.0379	9	0.66056	D	0.02	.	2.3362	0.04248	0.1257:0.4139:0.293:0.1674	.	26;26	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	T	26	ENSP00000365942:A26T;ENSP00000244360:A26T	ENSP00000244360:A26T	A	-	1	0	RNF39	30151470	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-0.148000	0.10219	0.251000	0.21505	0.436000	0.28706	GCA		0.602	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	0	NM_170769		6:30043491
KIAA1210	57481	broad.mit.edu	37	X	118284525	118284525	+	Silent	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:118284525C>A	ENST00000402510.2	-	1	17	c.18G>T	c.(16-18)acG>acT	p.T6T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	6								p.T6T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGCCTCGAGGCGTCCAGCCGG	0.652																																						ENST00000402510.2		NA																	1	Substitution - coding silent(1)	p.T6T(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(16-18)acG>acT		KIAA1210							57.0	66.0	63.0					X																	118284525		2017	4144	6161	SO:0001819	synonymous_variant	57481							g.chrX:118284525C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.18G>T	X.37:g.118284525C>A		False	False		Somatic	0					p.T6T	NM_020721.1	NP_065772.1	WXS	Illumina HiSeq	Phase_I	Q9ULL0	K1210_HUMAN			1	17	-			6					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.18G>T	CCDS48156.1																																																																																				0.652	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	0	NM_020721		X:118284525
TDG	6996	broad.mit.edu	37	12	104377099	104377099	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:104377099G>T	ENST00000392872.3	+	7	958	c.724G>T	c.(724-726)Gtt>Ttt	p.V242F	TDG_ENST00000542036.1_Missense_Mutation_p.V38F|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000544861.1_Missense_Mutation_p.V99F|TDG_ENST00000266775.9_Missense_Mutation_p.V238F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	242					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAGTAAAGAAGTTTTTGGAGT	0.284								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3		NA																	0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(724-726)Gtt>Ttt	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							46.0	49.0	48.0					12																	104377099		2167	4277	6444	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104377099G>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.724G>T	12.37:g.104377099G>T	ENSP00000376611:p.Val242Phe	True	False		Somatic	0				TDG_ENST00000542036.1_Missense_Mutation_p.V38F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F|TDG_ENST00000266775.9_Missense_Mutation_p.V238F	p.V242F	NM_003211.4	NP_003202.3	WXS	Illumina HiSeq	Phase_I	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	7	958	+			242					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.724G>T	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539433	0.65085	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.92;0.92	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.258187	0.39083	N	0.001468	T	0.55737	0.1939	N	0.25380	0.74	0.40131	D	0.976715	D;P;B	0.71674	0.998;0.934;0.233	P;P;B	0.60789	0.879;0.545;0.151	T	0.59804	-0.7385	10	0.62326	D	0.03	-28.8349	12.5149	0.56026	0.0764:0.0:0.9236:0.0	.	38;242;242	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	F	242;238;99;235;38	ENSP00000376611:V242F;ENSP00000266775:V238F;ENSP00000445899:V99F;ENSP00000439825:V235F;ENSP00000439054:V38F	ENSP00000266775:V238F	V	+	1	0	TDG	102901229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.522000	0.45572	2.518000	0.84900	0.563000	0.77884	GTT		0.284	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2	0			12:104377099
KIR3DX1	90011	broad.mit.edu	37	19	55048290	55048290	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55048290C>T	ENST00000335056.3	+	5	895	c.857C>T	c.(856-858)aCg>aTg	p.T286M	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	286	Ig-like C2-type 2.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCCGTGCAACGCCAGTCCCT	0.562																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(856-858)aCg>aTg									92.0	90.0	91.0					19																	55048290		1942	4147	6089	SO:0001583	missense	0							g.chr19:55048290C>T	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.857C>T	19.37:g.55048290C>T	ENSP00000335388:p.Thr286Met	False	False		Somatic	0				KIR3DX1_ENST00000482404.1_3'UTR	p.T286M			WXS	Illumina HiSeq	Phase_I				GBM - Glioblastoma multiforme(193;0.099)	5	895	+			NA					B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37	c.857C>T		.	.	.	.	.	.	.	.	.	.	c	3.085	-0.188251	0.06299	.	.	ENSG00000104970	ENST00000335056	T	0.03801	3.8	1.79	-3.58	0.04597	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03564	0.0102	.	.	.	0.09310	N	1	P	0.36974	0.576	B	0.34301	0.179	T	0.19418	-1.0306	8	0.72032	D	0.01	.	4.1502	0.10234	0.0:0.2279:0.3523:0.4198	.	286	Q9H7L2	KI3X1_HUMAN	M	286	ENSP00000335388:T286M	ENSP00000221567:T286M	T	+	2	0	KIR3DX1	59740102	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.835000	0.00180	-1.702000	0.01411	-1.605000	0.00808	ACG		0.562	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	0	NR_026716		19:55048290
NUP205	23165	broad.mit.edu	37	7	135304378	135304378	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:135304378A>G	ENST00000285968.6	+	29	4197	c.4171A>G	c.(4171-4173)Att>Gtt	p.I1391V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1391					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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTTGCTTCTATTGGAGATTC	0.368																																						ENST00000285968.6		NA																	0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4171-4173)Att>Gtt		nucleoporin 205kDa							59.0	59.0	59.0					7																	135304378		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135304378A>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4171A>G	7.37:g.135304378A>G	ENSP00000285968:p.Ile1391Val	False	False		Somatic	0					p.I1391V	NM_015135.2	NP_055950	WXS	Illumina HiSeq	Phase_I	Q92621	NU205_HUMAN			29	4197	+			1391					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4171A>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	6.227	0.410051	0.11812	.	.	ENSG00000155561	ENST00000285968	T	0.29142	1.58	5.67	2.02	0.26589	.	0.133675	0.64402	N	0.000002	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14755	-1.0461	10	0.14656	T	0.56	-22.4023	6.4248	0.21764	0.6149:0.1191:0.266:0.0	.	1391	Q92621	NU205_HUMAN	V	1391	ENSP00000285968:I1391V	ENSP00000285968:I1391V	I	+	1	0	NUP205	134954918	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	4.161000	0.58170	0.107000	0.17824	0.397000	0.26171	ATT		0.368	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	0			7:135304378
PSME4	23198	broad.mit.edu	37	2	54133825	54133825	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:54133825C>T	ENST00000404125.1	-	26	2908	c.2853G>A	c.(2851-2853)cgG>cgA	p.R951R	PSME4_ENST00000421748.2_Silent_p.R95R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	951					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAGTTAGTGTCCGTAGCTAAG	0.308																																						ENST00000404125.1		NA																	0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2851-2853)cgG>cgA		proteasome (prosome, macropain) activator subunit 4							123.0	122.0	122.0					2																	54133825		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54133825C>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2853G>A	2.37:g.54133825C>T		False	False		Somatic	0				PSME4_ENST00000421748.2_Silent_p.R95R	p.R951R	NM_014614.2	NP_055429.2	WXS	Illumina HiSeq	Phase_I	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		26	2908	-			951					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.2853G>A	CCDS33197.2																																																																																				0.308	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	0	XM_040158		2:54133825
CNGB1	1258	broad.mit.edu	37	16	57945695	57945695	+	Silent	SNP	G	G	A	rs528283367		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57945695G>A	ENST00000251102.8	-	25	2514	c.2454C>T	c.(2452-2454)ctC>ctT	p.L818L	CNGB1_ENST00000564448.1_Silent_p.L812L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	818					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAGTGGAGCCGAGGCCCTGAT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20647	0.0		0.001	False		,,,				2504	0.0				Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1		NA																	0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2434-2436)ctC>ctT		cyclic nucleotide gated channel beta 1							56.0	58.0	57.0					16																	57945695		1958	4152	6110	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57945695G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2454C>T	16.37:g.57945695G>A		False	False		Somatic	0				CNGB1_ENST00000251102.8_Silent_p.L818L	p.L812L			WXS	Illumina HiSeq	Phase_I	Q14028	CNGB1_HUMAN			25	2496	-			818					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.2436C>T	CCDS42169.1																																																																																				0.547	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	0	NM_001297		16:57945695
KRT6A	3853	broad.mit.edu	37	12	52881586	52881586	+	Missense_Mutation	SNP	C	C	G	rs200198490		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:52881586C>G	ENST00000330722.6	-	9	1681	c.1613G>C	c.(1612-1614)gGc>gCc	p.G538A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	538	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCTGAGGCCACCCCCAAT	0.577																																						ENST00000330722.6		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1612-1614)gGc>gCc		keratin 6A							75.0	84.0	81.0					12																	52881586		2203	4298	6501	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52881586C>G	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1613G>C	12.37:g.52881586C>G	ENSP00000369317:p.Gly538Ala	False	False		Somatic	0					p.G538A	NM_005554.3	NP_005545.1	WXS	Illumina HiSeq	Phase_I	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1681	-			538			Tail.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1613G>C	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	12.31	1.900672	0.33535	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.91124	-2.79	4.58	3.67	0.42095	.	0.000000	0.46758	D	0.000262	D	0.89536	0.6743	M	0.85542	2.76	0.30471	N	0.773342	B	0.29378	0.243	B	0.28991	0.097	T	0.82906	-0.0225	10	0.13108	T	0.6	.	12.0413	0.53454	0.0:0.8481:0.0:0.1519	.	538	P02538	K2C6A_HUMAN	A	538;494	ENSP00000369317:G538A	ENSP00000369317:G538A	G	-	2	0	KRT6A	51167853	0.213000	0.23551	0.995000	0.50966	0.991000	0.79684	3.180000	0.50895	1.206000	0.43276	0.650000	0.86243	GGC		0.577	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	0	NM_005554		12:52881586
GPR3	2827	broad.mit.edu	37	1	27720926	27720926	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27720926C>T	ENST00000374024.3	+	2	723	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	208					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGTTTGGCATCATGCTGCAGC	0.577																																						ENST00000374024.3		NA																	0				endometrium(3)|lung(3)|ovary(1)|skin(1)	8						c.(622-624)atC>atT		G protein-coupled receptor 3							214.0	185.0	195.0					1																	27720926		2203	4300	6503	SO:0001819	synonymous_variant	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27720926C>T	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.624C>T	1.37:g.27720926C>T		False	False		Somatic	0					p.I208I	NM_005281.3	NP_005272.1	WXS	Illumina HiSeq	Phase_I	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	723	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	208					A8K570	Silent	SNP	ENST00000374024.3	37	c.624C>T	CCDS303.1																																																																																				0.577	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	0	NM_005281		1:27720926
THSD7B	80731	broad.mit.edu	37	2	138400061	138400061	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:138400061G>A	ENST00000409968.1	+	21	3981	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1270	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTAGGTCGAATGAGCCGG	0.478																																						ENST00000409968.1		NA																	0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3802-3804)cGa>cAa		thrombospondin, type I, domain containing 7B							121.0	118.0	119.0					2																	138400061		1894	4125	6019	SO:0001583	missense	80731							g.chr2:138400061G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3803G>A	2.37:g.138400061G>A	ENSP00000387145:p.Arg1268Gln	False	False		Somatic	0				THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q	p.R1268Q			WXS	Illumina HiSeq	Phase_I				BRCA - Breast invasive adenocarcinoma(221;0.19)	21	3981	+			NA						Missense_Mutation	SNP	ENST00000409968.1	37	c.3803G>A		.	.	.	.	.	.	.	.	.	.	G	11.34	1.609124	0.28623	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.51325	0.71;0.71;0.71	5.29	-0.929	0.10444	.	1.100800	0.06637	N	0.760367	T	0.21103	0.0508	N	0.03281	-0.365	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46582	-0.9181	10	0.02654	T	1	.	10.7598	0.46258	0.6294:0.0:0.3706:0.0	.	1240	C9JKN6	.	Q	1268;1271;1240	ENSP00000387145:R1268Q;ENSP00000272643:R1271Q;ENSP00000413841:R1240Q	ENSP00000272643:R1271Q	R	+	2	0	THSD7B	138116531	0.970000	0.33590	0.992000	0.48379	0.992000	0.81027	-0.041000	0.12084	-0.106000	0.12110	-0.258000	0.10820	CGA		0.478	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	XM_046570.9		2:138400061
PGF	5228	broad.mit.edu	37	14	75416111	75416111	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:75416111G>A	ENST00000405431.2	-	3	263	c.264C>T	c.(262-264)ggC>ggT	p.G88G	PGF_ENST00000555567.1_Silent_p.G88G|PGF_ENST00000238607.6_Silent_p.G87G|PGF_ENST00000553716.1_Silent_p.G88G			P49763	PLGF_HUMAN	placental growth factor	88					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	GATTCTCATCGCCGCAGCAGC	0.632																																					GBM(127;389 2301 5452 48547)	ENST00000555567.1		NA																	0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(262-264)ggC>ggT		placental growth factor							68.0	57.0	61.0					14																	75416111		2203	4300	6503	SO:0001819	synonymous_variant	5228				angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding	g.chr14:75416111G>A	S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.264C>T	14.37:g.75416111G>A		False	False		Somatic	0				PGF_ENST00000553716.1_Silent_p.G88G|PGF_ENST00000405431.2_Silent_p.G88G|PGF_ENST00000238607.6_Silent_p.G87G	p.G88G	NM_002632.5	NP_002623.2	WXS	Illumina HiSeq	Phase_I	P49763	PLGF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00668)	3	805	-			88					Q07101|Q9BV78|Q9Y6S8	Silent	SNP	ENST00000405431.2	37	c.264C>T	CCDS9835.1																																																																																				0.632	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	0	NM_002632		14:75416111
TP53BP2	7159	broad.mit.edu	37	1	223986037	223986037	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:223986037C>T	ENST00000343537.7	-	12	2119	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000391878.2_Missense_Mutation_p.V481M	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	604					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTTGCTGCCACGGTCTGGGGT	0.527																																						ENST00000391878.2		NA																	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1441-1443)Gtg>Atg		tumor protein p53 binding protein, 2							114.0	119.0	117.0					1																	223986037		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986037C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1828G>A	1.37:g.223986037C>T	ENSP00000341957:p.Val610Met	False	False		Somatic	0				TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.V610M	p.V481M	NM_005426.2	NP_005417.1	WXS	Illumina HiSeq	Phase_I	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2209	-			604					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1441G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229638	0.79688	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.56941	0.43;0.62	5.88	5.88	0.94601	.	0.055023	0.64402	D	0.000001	T	0.67477	0.2897	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.85130	0.997;0.49	T	0.61352	-0.7080	10	0.33940	T	0.23	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	610;604	B4DG66;Q13625	.;ASPP2_HUMAN	M	481;610	ENSP00000375750:V481M;ENSP00000341957:V610M	ENSP00000341957:V610M	V	-	1	0	TP53BP2	222052660	0.997000	0.39634	0.966000	0.40874	0.972000	0.66771	3.655000	0.54460	2.782000	0.95742	0.655000	0.94253	GTG		0.527	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	0	NM_001031685, NM_005426		1:223986037
FAM135B	51059	broad.mit.edu	37	8	139165088	139165088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:139165088C>A	ENST00000395297.1	-	13	1800	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	544										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTCCATCCTCTGGACCTGGA	0.512										HNSCC(54;0.14)																												ENST00000395297.1		NA																	0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1630-1632)Gag>Tag		family with sequence similarity 135, member B							79.0	77.0	78.0					8																	139165088		1949	4157	6106	SO:0001587	stop_gained	51059							g.chr8:139165088C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1630G>T	8.37:g.139165088C>A	ENSP00000378710:p.Glu544*	False	False	HNSCC(54;0.14)	Somatic	0					p.E544*	NM_015912.3	NP_056996.2	WXS	Illumina HiSeq	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1800	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		544					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.1630G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	40	8.288310	0.98745	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.45	4.57	0.56435	.	0.787170	0.12180	N	0.492215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-4.7828	13.4045	0.60903	0.0:0.9248:0.0:0.0752	.	.	.	.	X	544	.	ENSP00000276737:E544X	E	-	1	0	FAM135B	139234270	0.116000	0.22171	0.386000	0.26170	0.934000	0.57294	1.547000	0.36190	1.446000	0.47643	0.655000	0.94253	GAG		0.512	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	0	NM_015912		8:139165088
RAG1	5896	broad.mit.edu	37	11	36595176	36595176	+	Nonsense_Mutation	SNP	C	C	T	rs193922464		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36595176C>T	ENST00000299440.5	+	2	434	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	108	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGCCAACCTTCGACATCTCTG	0.463									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(322-324)Cga>Tga		recombination activating gene 1		C	stop/ARG	0,4404		0,0,2202	109.0	104.0	106.0		322	3.2	0.7	11		106	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained	RAG1	NM_000448.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		108/1044	36595176	1,12999	2202	4298	6500	SO:0001587	stop_gained	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595176C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.322C>T	11.37:g.36595176C>T	ENSP00000299440:p.Arg108*	False	False		Somatic	0					p.R108*	NM_000448.2	NP_000439	WXS	Illumina HiSeq	Phase_I	P15918	RAG1_HUMAN			2	434	+	all_lung(20;0.226)	all_hematologic(20;0.107)	108			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	c.322C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280336	0.59758	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	6.14	3.2	0.36748	.	0.352416	0.29522	N	0.011917	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.0601	0.42270	0.3752:0.5616:0.0:0.0632	.	.	.	.	X	108	.	ENSP00000299440:R108X	R	+	1	2	RAG1	36551752	.	.	0.743000	0.31040	0.340000	0.28889	.	.	0.439000	0.26476	-0.156000	0.13503	CGA		0.463	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	0	NM_000448		11:36595176
FOLH1	2346	broad.mit.edu	37	11	49221961	49221961	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49221961G>C	ENST00000256999.2	-	3	517	c.257C>G	c.(256-258)aCa>aGa	p.T86R	FOLH1_ENST00000533034.1_Missense_Mutation_p.T71R|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.T86R|FOLH1_ENST00000340334.7_Missense_Mutation_p.T71R	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	86					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GTTTTGTTCTGTTCCTGCTAA	0.348																																						ENST00000340334.7		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(211-213)aCa>aGa		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						73.0	74.0	74.0					11																	49221961		2201	4296	6497	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49221961G>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.257C>G	11.37:g.49221961G>C	ENSP00000256999:p.Thr86Arg	True	False		Somatic	0				FOLH1_ENST00000356696.3_Missense_Mutation_p.T86R|FOLH1_ENST00000256999.2_Missense_Mutation_p.T86R|FOLH1_ENST00000533034.1_Missense_Mutation_p.T71R|FOLH1_ENST00000343844.4_Intron	p.T71R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	WXS	Illumina HiSeq	Phase_I	Q04609	FOLH1_HUMAN			4	580	-			86					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.212C>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161035	0.78226	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724;ENST00000529117	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000031	T	0.73606	0.3608	M	0.90019	3.08	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.943;0.997;0.997	D;D;P;D;D	0.97110	1.0;1.0;0.791;0.964;0.962	T	0.78499	-0.2180	10	0.52906	T	0.07	.	15.3468	0.74343	0.0:0.0:1.0:0.0	.	71;71;71;86;86	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	R	86;86;71;71;86;29	ENSP00000256999:T86R;ENSP00000349129:T86R;ENSP00000344131:T71R;ENSP00000431463:T71R;ENSP00000431577:T29R	ENSP00000256999:T86R	T	-	2	0	FOLH1	49178537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.854000	0.75440	2.496000	0.84212	0.508000	0.49915	ACA		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	0	NM_004476		11:49221961
ZNF543	125919	broad.mit.edu	37	19	57839619	57839619	+	Silent	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:57839619T>C	ENST00000321545.4	+	4	1134	c.789T>C	c.(787-789)gcT>gcC	p.A263A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAGGCTTTTAACCGCA	0.522																																						ENST00000321545.4		NA																	0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(787-789)gcT>gcC		zinc finger protein 543							67.0	66.0	66.0					19																	57839619		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839619T>C	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.789T>C	19.37:g.57839619T>C		True	False		Somatic	0					p.A263A	NM_213598.3	NP_998763.2	WXS	Illumina HiSeq	Phase_I	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1134	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	263					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.789T>C	CCDS33130.1																																																																																				0.522	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	0	XM_064865		19:57839619
PLEKHH2	130271	broad.mit.edu	37	2	43937444	43937444	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:43937444G>T	ENST00000282406.4	+	13	2299	c.2189G>T	c.(2188-2190)gGt>gTt	p.G730V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	730	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.			G -> C (in Ref. 1; CAI46132). {ECO:0000305}.	negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTAAAGGTGGTGAATTACTT	0.363																																						ENST00000282406.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2188-2190)gGt>gTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							112.0	125.0	121.0					2																	43937444		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937444G>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2189G>T	2.37:g.43937444G>T	ENSP00000282406:p.Gly730Val	False	False		Somatic	0					p.G730V	NM_172069.3	NP_742066.2	WXS	Illumina HiSeq	Phase_I	Q8IVE3	PKHH2_HUMAN			13	2299	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	730	G -> C (in Ref. 1; CAI46132).		PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2189G>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832003	0.71258	.	.	ENSG00000152527	ENST00000282406	T	0.76578	-1.03	5.02	4.11	0.48088	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.056676	0.64402	D	0.000001	D	0.88429	0.6434	M	0.82433	2.59	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;1.0;0.999	D	0.90058	0.4154	10	0.87932	D	0	-10.151	15.0911	0.72195	0.0:0.1426:0.8574:0.0	.	730;167;730	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	V	730	ENSP00000282406:G730V	ENSP00000282406:G730V	G	+	2	0	PLEKHH2	43790948	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.354000	0.73036	1.043000	0.40175	0.563000	0.77884	GGT		0.363	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	0	NM_172069		2:43937444
NCKAP5	344148	broad.mit.edu	37	2	133540781	133540781	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:133540781G>A	ENST00000409261.1	-	14	3976	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1201										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACCCGCTGTGATCTCCATGC	0.478																																						ENST00000409261.1		NA																	0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3601-3603)atC>atT		NCK-associated protein 5							85.0	84.0	84.0					2																	133540781		1949	4148	6097	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540781G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3603C>T	2.37:g.133540781G>A		False	False		Somatic	0				NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	p.I1201I	NM_207363.2	NP_997246.2	WXS	Illumina HiSeq	Phase_I	O14513	NCKP5_HUMAN			14	3976	-			1201					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.3603C>T	CCDS46418.1																																																																																				0.478	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	0	NM_207481		2:133540781
FMNL3	91010	broad.mit.edu	37	12	50044493	50044493	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:50044493G>A	ENST00000293590.5	-	17	2199	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C|FMNL3_ENST00000335154.5_Missense_Mutation_p.R656C			Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAGCCGAGCGGCCAGCCTTG	0.582																																						ENST00000335154.5		NA																	0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1966-1968)Cgc>Tgc		formin-like 3							101.0	98.0	99.0					12																	50044493		2051	4215	6266	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50044493G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1966C>T	12.37:g.50044493G>A	ENSP00000293590:p.Arg656Cys	False	False		Somatic	0				FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656C|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C	p.R656C	NM_175736.4	NP_783863.4	WXS	Illumina HiSeq	Phase_I	Q8IVF7	FMNL3_HUMAN			17	2199	-			656			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1966C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.085302	0.76642	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.12	5.12	0.69794	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.050640	0.64402	D	0.000001	T	0.24774	0.0601	L	0.27053	0.805	0.53688	D	0.999977	D;D;D	0.76494	0.998;0.996;0.999	D;P;P	0.64042	0.921;0.736;0.848	T	0.00383	-1.1774	10	0.51188	T	0.08	.	11.2905	0.49247	0.0:0.0:0.72:0.28	.	605;656;656	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	C	656;656;605;656	ENSP00000335655:R656C;ENSP00000447479:R656C;ENSP00000344311:R605C;ENSP00000293590:R656C	ENSP00000293590:R656C	R	-	1	0	FMNL3	48330760	0.983000	0.35010	1.000000	0.80357	0.980000	0.70556	1.336000	0.33850	2.834000	0.97654	0.650000	0.86243	CGC		0.582	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_175736		12:50044493
PER2	8864	broad.mit.edu	37	2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.A86T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383																																						ENST00000254657.3		NA																	1	Substitution - Missense(1)	p.A86T(1)	urinary_tract(1)	NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(256-258)Gca>Aca		period circadian clock 2							227.0	239.0	235.0					2																	239185809		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239185809C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.256G>A	2.37:g.239185809C>T	ENSP00000254657:p.Ala86Thr	False	False		Somatic	0				PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000440245.1_Missense_Mutation_p.A86T	p.A86T	NM_022817.2	NP_073728.1	WXS	Illumina HiSeq	Phase_I	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	3	535	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	86					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.256G>A	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908299	0.02434	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.53423	2.72;0.68;1.71;0.68;0.62	4.96	2.12	0.27331	.	0.345872	0.34110	N	0.004259	T	0.34308	0.0893	L	0.34521	1.04	0.20074	N	0.999938	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.12837	0.008;0.001;0.005;0.001	T	0.18053	-1.0349	10	0.31617	T	0.26	-1.2378	11.0032	0.47618	0.0:0.7639:0.0:0.2361	.	86;86;86;86	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	T	86	ENSP00000254657:A86T;ENSP00000254658:A86T;ENSP00000397516:A86T;ENSP00000348013:A86T;ENSP00000405891:A86T	ENSP00000254657:A86T	A	-	1	0	PER2	238850548	0.693000	0.27728	0.002000	0.10522	0.041000	0.13682	0.717000	0.25851	-0.004000	0.14419	-0.797000	0.03246	GCA		0.383	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	0	NM_022817		2:239185809
CCL24	6369	broad.mit.edu	37	7	75441265	75441265	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:75441265C>T	ENST00000416943.1	-	4	302	c.209G>A	c.(208-210)gGc>gAc	p.G70D	CCL24_ENST00000222902.2_Missense_Mutation_p.G70D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	70					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						GAACTGCTGGCCCTTCTTGGT	0.612																																						ENST00000416943.1		NA																	0				endometrium(1)|lung(2)	3						c.(208-210)gGc>gAc		chemokine (C-C motif) ligand 24							83.0	69.0	74.0					7																	75441265		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75441265C>T	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"""Chemokine ligands"", ""Endogenous ligands"""	10623	protein-coding gene	gene with protein product	"""CK-beta-6"", ""myeloid progenitor inhibitory factor 2"", ""eotaxin-2"""	602495	"""small inducible cytokine subfamily A (Cys-Cys), member 24"""	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.209G>A	7.37:g.75441265C>T	ENSP00000400533:p.Gly70Asp	True	False		Somatic	0				CCL24_ENST00000222902.2_Missense_Mutation_p.G70D	p.G70D	NM_002991.2	NP_002982.2	WXS	Illumina HiSeq	Phase_I	O00175	CCL24_HUMAN			4	302	-			70					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.209G>A	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	C	9.453	1.091082	0.20471	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.05925	3.37;3.37	4.15	3.26	0.37387	Chemokine interleukin-8-like domain (3);	0.680432	0.13196	N	0.406384	T	0.08670	0.0215	L	0.61036	1.89	0.27743	N	0.944416	B	0.29716	0.255	B	0.30716	0.119	T	0.15235	-1.0444	10	0.36615	T	0.2	.	8.3206	0.32126	0.0:0.8859:0.0:0.1141	.	70	O00175	CCL24_HUMAN	D	70	ENSP00000222902:G70D;ENSP00000400533:G70D	ENSP00000222902:G70D	G	-	2	0	CCL24	75279201	0.659000	0.27411	0.245000	0.24217	0.370000	0.29829	1.945000	0.40273	0.862000	0.35528	0.555000	0.69702	GGC		0.612	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	0	NM_002991		7:75441265
CUBN	8029	broad.mit.edu	37	10	16877170	16877170	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:16877170G>A	ENST00000377833.4	-	64	10270	c.10205C>T	c.(10204-10206)gCa>gTa	p.A3402V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3402	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGCCAAATGCCTTGTGATA	0.438																																						ENST00000377833.4		NA																	0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10204-10206)gCa>gTa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						131.0	118.0	123.0					10																	16877170		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877170G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10205C>T	10.37:g.16877170G>A	ENSP00000367064:p.Ala3402Val	False	False		Somatic	0					p.A3402V	NM_001081.3	NP_001072.2	WXS	Illumina HiSeq	Phase_I	O60494	CUBN_HUMAN			64	10270	-			3402			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10205C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	6.678	0.493742	0.12702	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.19105	2.17	4.84	2.92	0.33932	CUB (5);	0.738516	0.11552	N	0.552718	T	0.24236	0.0587	L	0.47716	1.5	0.24037	N	0.996099	P	0.40360	0.714	B	0.43990	0.438	T	0.10291	-1.0636	10	0.30854	T	0.27	.	11.3802	0.49752	0.0:0.1371:0.7202:0.1427	.	3402	O60494	CUBN_HUMAN	V	3402;243	ENSP00000367064:A3402V	ENSP00000367064:A3402V	A	-	2	0	CUBN	16917176	0.660000	0.27420	0.004000	0.12327	0.008000	0.06430	2.533000	0.45667	0.593000	0.29745	-0.314000	0.08810	GCA		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	NM_001081		10:16877170
ZNF37BP	100129482	broad.mit.edu	37	10	43019068	43019068	+	RNA	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:43019068A>G	ENST00000452075.3	-	0	886					NR_026777.1				zinc finger protein 37B, pseudogene																		ACCTACTGAGACAAGGTGGCT	0.438																																						ENST00000452075.3		NA																	0					NA																																														0							g.chr10:43019068A>G	AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43019068A>G		False	False		Somatic	0						NR_026777.1		WXS	Illumina HiSeq	Phase_I					0	886	-			NA						RNA	SNP	ENST00000452075.3	37																																																																																						0.438	ZNF37BP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047675.2	0	NR_026777		10:43019068
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:74905279G>A	ENST00000370899.3	+	22	2324	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E776K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E763K	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TCTCACTGGCGAAATTCCATT	0.438																																						ENST00000370891.2		NA																	0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2287-2289)Gaa>Aaa		TNNI3 interacting kinase							135.0	115.0	122.0					1																	74905279		2203	4300	6503	SO:0001583	missense	51086							g.chr1:74905279G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2287G>A	1.37:g.74905279G>A	ENSP00000359936:p.Glu763Lys	True	False		Somatic	0				TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E776K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K	p.E763K	NM_001112808.2	NP_001106279.2	WXS	Illumina HiSeq	Phase_I					22	2303	+			NA						Missense_Mutation	SNP	ENST00000370899.3	37	c.2287G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.077222	0.76415	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.87	4.02	0.46733	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050658	0.85682	N	0.000000	T	0.72566	0.3476	N	0.13098	0.295	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.64877	0.93;0.92;0.885	T	0.72421	-0.4299	10	0.23302	T	0.38	.	12.1528	0.54059	0.1371:0.0:0.8629:0.0	.	662;763;763	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	K	763;763;763;662	ENSP00000359936:E763K;ENSP00000450895:E763K;ENSP00000359928:E763K;ENSP00000322251:E662K	ENSP00000322251:E662K	E	+	1	0	RP11-653A5.2;AC093158.1	74677867	1.000000	0.71417	0.683000	0.30040	0.969000	0.65631	6.146000	0.71777	0.839000	0.34971	0.484000	0.47621	GAA		0.438	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3	0			1:74905279
DLGAP2	9228	broad.mit.edu	37	8	1645335	1645335	+	Missense_Mutation	SNP	C	C	T	rs373082856		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:1645335C>T	ENST00000421627.2	+	11	2713	c.2579C>T	c.(2578-2580)cCg>cTg	p.P860L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	939					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATGCCGAGGCCGACGTCGCAG	0.667																																						ENST00000421627.2		NA																	0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2578-2580)cCg>cTg		discs, large (Drosophila) homolog-associated protein 2		C	LEU/PRO	0,4008		0,0,2004	23.0	28.0	26.0		2579	4.9	0.1	8		26	2,8302		0,2,4150	no	missense	DLGAP2	NM_004745.3	98	0,2,6154	TT,TC,CC		0.0241,0.0,0.0162	probably-damaging	860/976	1645335	2,12310	2004	4152	6156	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1645335C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2579C>T	8.37:g.1645335C>T	ENSP00000400258:p.Pro860Leu	False	False		Somatic	0					p.P860L	NM_004745.3	NP_004736.2	WXS	Illumina HiSeq	Phase_I	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	11	2713	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	939					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2579C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.766620|3.766620	0.69878|0.69878	0.0|0.0	2.41E-4|2.41E-4	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.22945|.	1.93|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83695|.	0.5310|.	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.992|.	D;D|.	0.97110|.	1.0;0.976|.	D|.	0.86683|.	0.1918|.	10|.	0.87932|.	D|.	0|.	-12.8537|-12.8537	18.0887|18.0887	0.89466|0.89466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	925;939|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|X	891;860|863	ENSP00000400258:P860L|.	ENSP00000348366:P891L|.	P|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1632742|1632742	1.000000|1.000000	0.71417|0.71417	0.060000|0.060000	0.19600|0.19600	0.254000|0.254000	0.26022|0.26022	7.404000|7.404000	0.79996|0.79996	2.270000|2.270000	0.75569|0.75569	0.561000|0.561000	0.74099|0.74099	CCG|CGA		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	0	NM_004745		8:1645335
ALCAM	214	broad.mit.edu	37	3	105290748	105290748	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:105290748A>G	ENST00000306107.5	+	15	2217	c.1717A>G	c.(1717-1719)Aag>Gag	p.K573E	ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	573					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGAAAACAAAAAGTTAGAAGA	0.353																																						ENST00000306107.5		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1717-1719)Aag>Gag		activated leukocyte cell adhesion molecule							72.0	69.0	70.0					3																	105290748		2203	4299	6502	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105290748A>G	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1717A>G	3.37:g.105290748A>G	ENSP00000305988:p.Lys573Glu	True	False		Somatic	0				ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E	p.K573E	NM_001627.3	NP_001618.2	WXS	Illumina HiSeq	Phase_I	Q13740	CD166_HUMAN			15	2217	+			573					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1717A>G	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.78|18.78	3.696782|3.696782	0.68386|0.68386	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|T	0.58060|0.25579	0.42;0.58;0.36;1.15|1.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D|.	0.63880|.	0.993;0.993;0.993|.	D;D;D|.	0.70935|.	0.956;0.956;0.971|.	T|T	0.02282|0.02282	-1.1183|-1.1183	10|8	0.44086|0.29301	T|T	0.13|0.29	-17.4549|-17.4549	15.7464|15.7464	0.77949|0.77949	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	295;560;573|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	E|R	573;560;522;295|333	ENSP00000305988:K573E;ENSP00000419236:K560E;ENSP00000418213:K522E;ENSP00000374577:K295E|ENSP00000418937:K333R	ENSP00000305988:K573E|ENSP00000418937:K333R	K|K	+|+	1|2	0|0	ALCAM|ALCAM	106773438|106773438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.000000|6.000000	0.70678|0.70678	2.176000|2.176000	0.68965|0.68965	0.455000|0.455000	0.32223|0.32223	AAG|AAA		0.353	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	0	NM_001627		3:105290748
TIAM1	7074	broad.mit.edu	37	21	32493062	32493062	+	Missense_Mutation	SNP	G	G	A	rs201116117		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32493062G>A	ENST00000286827.3	-	29	4871	c.4400C>T	c.(4399-4401)cCg>cTg	p.P1467L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1467					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCTTTCTCCGGGCTGCTTGC	0.577																																						ENST00000286827.3		NA																	0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4399-4401)cCg>cTg		T-cell lymphoma invasion and metastasis 1							47.0	51.0	49.0					21																	32493062		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32493062G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4400C>T	21.37:g.32493062G>A	ENSP00000286827:p.Pro1467Leu	True	False		Somatic	0				TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	p.P1467L	NM_003253.2	NP_003244.2	WXS	Illumina HiSeq	Phase_I	Q13009	TIAM1_HUMAN			29	4871	-			1467					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4400C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789061	0.90367	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.42131	0.98;1.01	5.14	5.14	0.70334	.	0.126543	0.53938	D	0.000041	T	0.49525	0.1562	L	0.50333	1.59	0.80722	D	1	D;D	0.58970	0.981;0.984	P;B	0.49637	0.617;0.413	T	0.51012	-0.8759	10	0.51188	T	0.08	.	18.6336	0.91369	0.0:0.0:1.0:0.0	.	1407;1467	F5GZ53;Q13009	.;TIAM1_HUMAN	L	1467;1407	ENSP00000286827:P1467L;ENSP00000441570:P1407L	ENSP00000286827:P1467L	P	-	2	0	TIAM1	31414933	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.421000	0.80204	2.377000	0.81083	0.655000	0.94253	CCG		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	0	NM_003253		21:32493062
COL19A1	1310	broad.mit.edu	37	6	70831785	70831785	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:70831785T>C	ENST00000322773.4	+	17	1394	c.1292T>C	c.(1291-1293)aTa>aCa	p.I431T	COL19A1_ENST00000393344.1_Missense_Mutation_p.I53T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	431	Collagen-like 3.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTCCTGGAATACAAGGAATA	0.269																																						ENST00000322773.4		NA																	0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1291-1293)aTa>aCa		collagen, type XIX, alpha 1							66.0	73.0	71.0					6																	70831785		2200	4275	6475	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70831785T>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1292T>C	6.37:g.70831785T>C	ENSP00000316030:p.Ile431Thr	False	False		Somatic	0				COL19A1_ENST00000393344.1_Missense_Mutation_p.I53T	p.I431T	NM_001858.4	NP_001849.2	WXS	Illumina HiSeq	Phase_I	Q14993	COJA1_HUMAN			17	1394	+			431					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1292T>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	9.437	1.087165	0.20390	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000455415	D;T;T	0.96136	-3.92;1.4;1.4	5.32	1.21	0.21127	.	1.367040	0.04335	N	0.353095	T	0.80602	0.4654	L	0.35542	1.07	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.72475	-0.4282	10	0.10636	T	0.68	.	2.6339	0.04952	0.1426:0.0899:0.1479:0.6195	.	431	Q14993	COJA1_HUMAN	T	431;53;5	ENSP00000316030:I431T;ENSP00000377013:I53T;ENSP00000416556:I5T	ENSP00000316030:I431T	I	+	2	0	COL19A1	70888506	0.027000	0.19231	0.069000	0.20011	0.880000	0.50808	0.635000	0.24629	0.501000	0.28013	0.533000	0.62120	ATA		0.269	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1	0			6:70831785
XRCC3	7517	broad.mit.edu	37	14	104169592	104169592	+	Missense_Mutation	SNP	C	C	T	rs546280840		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:104169592C>T	ENST00000553264.1	-	5	1275	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000555832.1_5'Flank|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	160					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGTGCGCAGCCGCGGCTGCTG	0.622								Direct reversal of damage;Homologous recombination					C|||	1	0.000199681	0.0008	0.0	5008	,	,		18134	0.0		0.0	False		,,,				2504	0.0					ENST00000553264.1		NA																	0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(478-480)cGg>cAg	Direct reversal of damage;Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 3							38.0	30.0	32.0					14																	104169592		2186	4291	6477	SO:0001583	missense	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104169592C>T	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.479G>A	14.37:g.104169592C>T	ENSP00000451974:p.Arg160Gln	False	False		Somatic	0				XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron	p.R160Q			WXS	Illumina HiSeq	Phase_I	O43542	XRCC3_HUMAN		Epithelial(152;0.239)	5	1275	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	160					O43568|Q9BU18	Missense_Mutation	SNP	ENST00000553264.1	37	c.479G>A	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858680	0.17178	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.7	-3.94	0.04130	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	1.857050	0.02717	N	0.113582	T	0.30759	0.0775	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.16289	0.015	T	0.24297	-1.0164	10	0.31617	T	0.26	-22.7782	12.9742	0.58529	0.0:0.165:0.0:0.835	.	160	O43542	XRCC3_HUMAN	Q	160	ENSP00000451362:R160Q;ENSP00000343392:R160Q;ENSP00000451974:R160Q;ENSP00000452598:R160Q;ENSP00000412990:R160Q	ENSP00000343392:R160Q	R	-	2	0	XRCC3	103239345	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.699000	0.01906	-0.879000	0.04002	-0.367000	0.07326	CGG		0.622	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1	0	NM_005432		14:104169592
NLRC5	84166	broad.mit.edu	37	16	57092011	57092011	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57092011A>G	ENST00000262510.6	+	28	4006	c.3781A>G	c.(3781-3783)Aga>Gga	p.R1261G	NLRC5_ENST00000539144.1_Missense_Mutation_p.R1232G|NLRC5_ENST00000436936.1_Missense_Mutation_p.R1261G|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.R1232G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1261					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCGGACTCAGATGCCTTCT	0.572																																						ENST00000436936.1		NA																	0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3781-3783)Aga>Gga		NLR family, CARD domain containing 5							61.0	50.0	53.0					16																	57092011		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57092011A>G	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3781A>G	16.37:g.57092011A>G	ENSP00000262510:p.Arg1261Gly	False	False		Somatic	0				RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.R1232G|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1232G|NLRC5_ENST00000262510.6_Missense_Mutation_p.R1261G	p.R1261G			WXS	Illumina HiSeq	Phase_I	Q86WI3	NLRC5_HUMAN			28	4006	+		all_neural(199;0.225)	1261					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3781A>G	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.659|7.659	0.684568|0.684568	0.14973|0.14973	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805;ENST00000399221|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	.|T;T;T;T;T	.|0.53423	.|0.62;5.54;0.62;5.54;0.62	4.68|4.68	2.39|2.39	0.29439|0.29439	.|.	.|.	.|.	.|.	.|.	T|T	0.44371|0.44371	0.1290|0.1290	M|M	0.68952|0.68952	2.095|2.095	0.09310|0.09310	N|N	1|1	.|P;P;B;B	.|0.36465	.|0.554;0.515;0.302;0.094	.|B;B;B;B	.|0.35550	.|0.205;0.156;0.08;0.054	T|T	0.28004|0.28004	-1.0057|-1.0057	5|9	.|0.49607	.|T	.|0.09	.|.	8.9296|8.9296	0.35661|0.35661	0.6488:0.3512:0.0:0.0|0.6488:0.3512:0.0:0.0	.|.	.|945;1232;1261;1261	.|Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	R|G	1012;12|1261;1232;1261;704;1232;737	.|ENSP00000262510:R1261G;ENSP00000308886:R1232G;ENSP00000389739:R1261G;ENSP00000441727:R1232G;ENSP00000441597:R737G	.|ENSP00000262510:R1261G	Q|R	+|+	2|1	0|2	NLRC5|NLRC5	55649512|55649512	0.968000|0.968000	0.33430|0.33430	0.285000|0.285000	0.24819|0.24819	0.051000|0.051000	0.14879|0.14879	1.064000|1.064000	0.30579|0.30579	0.292000|0.292000	0.22492|0.22492	0.449000|0.449000	0.29647|0.29647	CAG|AGA		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	0	NM_032206		16:57092011
MYO5A	4644	broad.mit.edu	37	15	52672018	52672018	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:52672018C>T	ENST00000399231.3	-	17	2343		c.e17+1		MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCAGGCTCACCGTGAGGGGA	0.453																																						ENST00000399231.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.e17+1		myosin VA (heavy chain 12, myoxin)							105.0	108.0	107.0					15																	52672018		1920	4133	6053	SO:0001630	splice_region_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52672018C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2099+1G>A	15.37:g.52672018C>T		False	False		Somatic	0				MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site		NM_000259.3	NP_000250	WXS	Illumina HiSeq	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	17	2343	-			NA					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Splice_Site	SNP	ENST00000399231.3	37		CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385741	0.82792	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	4.99	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1161	0.72404	0.0:0.8581:0.1419:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO5A	50459310	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	7.818000	0.86416	2.464000	0.83262	0.650000	0.86243	.		0.453	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	0	NM_000259	Intron	15:52672018
PKP2	5318	broad.mit.edu	37	12	33031332	33031332	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:33031332T>C	ENST00000070846.6	-	3	506	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	PKP2_ENST00000340811.4_Missense_Mutation_p.Y161C	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	161					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCTGTGCGTGTAGTGAGCCCT	0.592																																						ENST00000340811.4		NA																	0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(481-483)tAc>tGc		plakophilin 2							108.0	107.0	108.0					12																	33031332		2203	4297	6500	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031332T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.482A>G	12.37:g.33031332T>C	ENSP00000070846:p.Tyr161Cys	False	False		Somatic	0				PKP2_ENST00000070846.6_Missense_Mutation_p.Y161C	p.Y161C	NM_001005242.2	NP_001005242.2	WXS	Illumina HiSeq	Phase_I	Q99959	PKP2_HUMAN			3	590	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		161					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.482A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522175	0.44866	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.86030	-2.05;-2.06	4.98	4.98	0.66077	.	0.558681	0.16641	N	0.205627	D	0.89403	0.6705	L	0.59436	1.845	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.956;0.972	T	0.81169	-0.1055	10	0.59425	D	0.04	-5.6232	9.1145	0.36748	0.1628:0.0:0.0:0.8372	.	161;161;161	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	C	161	ENSP00000342800:Y161C;ENSP00000070846:Y161C	ENSP00000070846:Y161C	Y	-	2	0	PKP2	32922599	0.061000	0.20836	0.007000	0.13788	0.021000	0.10359	2.011000	0.40922	1.865000	0.54081	0.529000	0.55759	TAC		0.592	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	0	NM_004572		12:33031332
SOX11	6664	broad.mit.edu	37	2	5833216	5833216	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:5833216G>A	ENST00000322002.3	+	1	418	c.363G>A	c.(361-363)cgG>cgA	p.R121R	AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	121					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACCGGCCCCGGAAAAAGCCCA	0.692																																						ENST00000322002.3		NA																	0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(361-363)cgG>cgA		SRY (sex determining region Y)-box 11							17.0	23.0	21.0					2																	5833216		2197	4300	6497	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833216G>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.363G>A	2.37:g.5833216G>A		True	False		Somatic	0					p.R121R	NM_003108.3	NP_003099.1	WXS	Illumina HiSeq	Phase_I	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	418	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		121					Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.363G>A	CCDS1654.1																																																																																				0.692	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	0	NM_003108		2:5833216
OTOF	9381	broad.mit.edu	37	2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A	rs560665036		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4354-4356)Cgc>Tgc		otoferlin							52.0	48.0	49.0					2																	26689975		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26689975G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4354C>T	2.37:g.26689975G>A	ENSP00000272371:p.Arg1452Cys	False	False		Somatic	0				OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C	p.R1452C	NM_194248.2	NP_919224.1	WXS	Illumina HiSeq	Phase_I	Q9HC10	OTOF_HUMAN			35	4480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1452					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4354C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597730	0.46318	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80480	-1.13;-1.13;-1.12;-1.38;-1.38	4.69	-0.734	0.11140	.	0.045494	0.85682	D	0.000000	T	0.68504	0.3008	L	0.41236	1.265	0.80722	D	1	B;B;B;B	0.33171	0.397;0.026;0.4;0.026	B;B;B;B	0.20955	0.013;0.032;0.03;0.032	T	0.66172	-0.5990	10	0.59425	D	0.04	-20.9378	14.53	0.67917	0.0:0.0:0.3367:0.6633	.	1452;685;762;685	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	685;685;762;1452;1452	ENSP00000345137:R685C;ENSP00000344521:R685C;ENSP00000383906:R762C;ENSP00000272371:R1452C;ENSP00000385255:R1452C	ENSP00000272371:R1452C	R	-	1	0	OTOF	26543479	0.984000	0.35163	0.971000	0.41717	0.920000	0.55202	0.944000	0.29043	0.077000	0.16863	0.561000	0.74099	CGC		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	0			2:26689975
PSG5	5673	broad.mit.edu	37	19	43683042	43683042	+	Intron	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:43683042A>G	ENST00000366175.3	-	3	561				PSG5_ENST00000599812.1_Missense_Mutation_p.L233P|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000407356.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GAGGAGATTCAGGGTGACTGG	0.522																																						ENST00000599812.1		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(697-699)cTg>cCg		pregnancy specific beta-1-glycoprotein 5							355.0	334.0	340.0					19																	43683042		874	1990	2864	SO:0001627	intron_variant	5673				female pregnancy	extracellular region		g.chr19:43683042A>G		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.431-2742T>C	19.37:g.43683042A>G		True	False		Somatic	0				PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000404580.1_Intron	p.L233P			WXS	Illumina HiSeq	Phase_I	Q15238	PSG5_HUMAN			3	793	-		Prostate(69;0.00899)	140			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.698T>C	CCDS12617.1																																																																																				0.522	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	0	NM_002781		19:43683042
GPR21	2844	broad.mit.edu	37	9	125797611	125797611	+	Nonsense_Mutation	SNP	C	C	T	rs370055199		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:125797611C>T	ENST00000373642.1	+	1	806	c.766C>T	c.(766-768)Cga>Tga	p.R256*	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	256					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGTCCTGTTTCGAATCACTAG	0.507																																						ENST00000373642.1		NA																	0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(766-768)Cga>Tga		G protein-coupled receptor 21		C	stop/ARG,	0,4406		0,0,2203	180.0	158.0	165.0		766,	5.0	1.0	9		165	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,intron	GPR21,RABGAP1	NM_005294.1,NM_012197.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	256/350,	125797611	1,13005	2203	4300	6503	SO:0001587	stop_gained	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797611C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.766C>T	9.37:g.125797611C>T	ENSP00000362746:p.Arg256*	True	False		Somatic	0				RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	p.R256*	NM_005294.1	NP_005285.1	WXS	Illumina HiSeq	Phase_I	Q99679	GPR21_HUMAN			1	806	+			256					B2R8W9|Q6NXU2	Nonsense_Mutation	SNP	ENST00000373642.1	37	c.766C>T	CCDS6849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.225223|4.225223	0.79576|0.79576	0.0|0.0	1.16E-4|1.16E-4	ENSG00000188394|ENSG00000188394	ENST00000373642|ENST00000412269	.|.	.|.	.|.	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.64402|.	U|.	0.000006|.	.|T	.|0.66356	.|0.2781	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61456	.|-0.7059	.|5	0.30854|0.19590	T|T	0.27|0.45	-4.8434|-4.8434	16.7619|16.7619	0.85514|0.85514	0.1297:0.8703:0.0:0.0|0.1297:0.8703:0.0:0.0	.|.	.|.	.|.	.|.	X|L	256|248	.|.	ENSP00000362746:R256X|ENSP00000389239:S248L	R|S	+|+	1|2	2|0	GPR21|GPR21	124837432|124837432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	3.714000|3.714000	0.54889|0.54889	1.491000|1.491000	0.48482|0.48482	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.507	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	0	NM_005294		9:125797611
HDHD2	84064	broad.mit.edu	37	18	44661018	44661018	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:44661018C>T	ENST00000300605.6	-	3	311	c.159G>A	c.(157-159)aaG>aaA	p.K53K	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	53						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						ACAGGTCTTGCTTGCTCTCTT	0.403																																						ENST00000300605.6		NA																	0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(157-159)aaG>aaA		haloacid dehalogenase-like hydrolase domain containing 2							164.0	164.0	164.0					18																	44661018		2203	4300	6503	SO:0001819	synonymous_variant	84064						hydrolase activity	g.chr18:44661018C>T	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.159G>A	18.37:g.44661018C>T		True	False		Somatic	0				HDHD2_ENST00000587841.1_Intron	p.K53K	NM_032124.4	NP_115500.1	WXS	Illumina HiSeq	Phase_I	Q9H0R4	HDHD2_HUMAN			3	311	-			53					A8K7T3|Q96NV4	Silent	SNP	ENST00000300605.6	37	c.159G>A	CCDS32829.1																																																																																				0.403	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	0	NM_032124		18:44661018
TIAM1	7074	broad.mit.edu	37	21	32589921	32589921	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32589921C>A	ENST00000286827.3	-	10	2561	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	697					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCCAGACCCCACAGAGAAGA	0.532																																						ENST00000286827.3		NA																	0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2089-2091)tGg>tTg		T-cell lymphoma invasion and metastasis 1							185.0	161.0	169.0					21																	32589921		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32589921C>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2090G>T	21.37:g.32589921C>A	ENSP00000286827:p.Trp697Leu	True	False		Somatic	0				TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L	p.W697L	NM_003253.2	NP_003244.2	WXS	Illumina HiSeq	Phase_I	Q13009	TIAM1_HUMAN			10	2561	-			697					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2090G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906475	0.72868	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.32988	1.43;1.43	5.41	5.41	0.78517	.	0.124926	0.64402	D	0.000016	T	0.33556	0.0867	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.32573	0.101;0.061;0.376;0.104	B;B;B;B	0.30401	0.098;0.045;0.115;0.11	T	0.08953	-1.0697	10	0.46703	T	0.11	.	19.3868	0.94560	0.0:1.0:0.0:0.0	.	697;697;538;697	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	L	697;538;697	ENSP00000286827:W697L;ENSP00000441570:W697L	ENSP00000286827:W697L	W	-	2	0	TIAM1	31511792	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.569000	0.82380	2.803000	0.96430	0.655000	0.94253	TGG		0.532	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	0	NM_003253		21:32589921
PCDH11X	27328	broad.mit.edu	37	X	91132649	91132649	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000504220.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAGTCTTTCGTAACTGTTT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1		NA																	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1408-1410)ttC>ttT		protocadherin 11 X-linked							63.0	57.0	59.0					X																	91132649		2203	4298	6501	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132649C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1410C>T	X.37:g.91132649C>T		True	False		Somatic	0				PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000504220.2_Silent_p.F470F	p.F470F	NM_032968.3	NP_116750.1	WXS	Illumina HiSeq	Phase_I	Q9BZA7	PC11X_HUMAN			2	2255	+			470			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.1410C>T	CCDS14461.1																																																																																				0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	0	NM_032969		X:91132649
CD8B	926	broad.mit.edu	37	2	87085345	87085345	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:87085345T>G	ENST00000390655.6	-	2	296	c.238A>C	c.(238-240)Atc>Ctc	p.I80L	CD8B_ENST00000393761.2_Missense_Mutation_p.I80L|CD8B_ENST00000331469.2_Missense_Mutation_p.I80L|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.I80L|CD8B_ENST00000349455.3_Missense_Mutation_p.I80L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	80	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TCACCGTGGATAGTCCCTTTT	0.552																																						ENST00000390655.6		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(238-240)Atc>Ctc		CD8b molecule							108.0	97.0	101.0					2																	87085345		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085345T>G		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.238A>C	2.37:g.87085345T>G	ENSP00000375070:p.Ile80Leu	False	False		Somatic	0				CD8B_ENST00000349455.3_Missense_Mutation_p.I80L|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.I80L|CD8B_ENST00000393761.2_Missense_Mutation_p.I80L|CD8B_ENST00000331469.2_Missense_Mutation_p.I80L	p.I80L	NM_004931.4	NP_004922.1	WXS	Illumina HiSeq	Phase_I	P10966	CD8B_HUMAN			2	296	-			80			Ig-like V-type.		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.238A>C	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	T	8.426	0.847470	0.17034	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	4.35	-6.41	0.01938	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.220850	0.00873	N	0.002047	T	0.41096	0.1144	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B;B	0.24132	0.016;0.001;0.004;0.002;0.001;0.098	B;B;B;B;B;B	0.15484	0.007;0.003;0.004;0.002;0.003;0.013	T	0.20042	-1.0287	10	0.28530	T	0.3	0.0063	7.5745	0.27928	0.1156:0.284:0.0:0.6004	.	80;80;80;80;80;80	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	L	80	ENSP00000377358:I80L;ENSP00000377356:I80L;ENSP00000340592:I80L;ENSP00000331172:I80L;ENSP00000375070:I80L	ENSP00000331172:I80L	I	-	1	0	CD8B	86938856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.673000	0.01951	-1.420000	0.02009	-2.142000	0.00338	ATC		0.552	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	0	NM_172099		2:87085345
SLC12A5	57468	broad.mit.edu	37	20	44685548	44685548	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:44685548C>T	ENST00000454036.2	+	24	3241	c.3192C>T	c.(3190-3192)aaC>aaT	p.N1064N	SLC12A5_ENST00000243964.3_Silent_p.N1041N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1064					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTGGGAGAACTTGTAAGTGC	0.493																																						ENST00000243964.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(3121-3123)aaC>aaT		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						171.0	161.0	165.0					20																	44685548		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685548C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3192C>T	20.37:g.44685548C>T		False	False		Somatic	0				SLC12A5_ENST00000454036.2_Silent_p.N1064N	p.N1041N	NM_020708.4	NP_065759.1	WXS	Illumina HiSeq	Phase_I	Q9H2X9	S12A5_HUMAN			24	3221	+		Myeloproliferative disorder(115;0.0122)	1064					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.3123C>T	CCDS46610.1																																																																																				0.493	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	0			20:44685548
RBM27	54439	broad.mit.edu	37	5	145651191	145651191	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:145651191G>A	ENST00000265271.5	+	19	3108	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	981					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAACAGTTGGAGGATTCATT	0.443																																						ENST00000265271.5		NA																	0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2941-2943)gGa>gAa		RNA binding motif protein 27							141.0	136.0	138.0					5																	145651191		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145651191G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2942G>A	5.37:g.145651191G>A	ENSP00000265271:p.Gly981Glu	False	False		Somatic	0				RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	p.G981E	NM_018989.1	NP_061862.1	WXS	Illumina HiSeq	Phase_I	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	3108	+			981					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2942G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225732	0.39300	.	.	ENSG00000091009	ENST00000265271	T	0.41065	1.01	4.93	3.02	0.34903	.	0.351548	0.27019	N	0.021331	T	0.26048	0.0635	N	0.22421	0.69	0.32293	N	0.566076	B	0.19583	0.037	B	0.13407	0.009	T	0.18935	-1.0321	10	0.30854	T	0.27	-10.6489	10.0237	0.42059	0.0:0.1252:0.635:0.2397	.	981	Q9P2N5	RBM27_HUMAN	E	981	ENSP00000265271:G981E	ENSP00000265271:G981E	G	+	2	0	RBM27	145631384	0.676000	0.27567	1.000000	0.80357	0.993000	0.82548	2.866000	0.48420	2.445000	0.82738	0.650000	0.86243	GGA		0.443	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	0	XM_291128		5:145651191
DCAF5	8816	broad.mit.edu	37	14	69522129	69522129	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:69522129C>T	ENST00000341516.5	-	9	1421	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000557386.1_Missense_Mutation_p.R424Q	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	425					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTCGATCTCTCGGCGTACCAG	0.587																																						ENST00000341516.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1273-1275)cGa>cAa		DDB1 and CUL4 associated factor 5							73.0	68.0	69.0					14																	69522129		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522129C>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1274G>A	14.37:g.69522129C>T	ENSP00000341351:p.Arg425Gln	True	False		Somatic	0				DCAF5_ENST00000554215.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000557386.1_Missense_Mutation_p.R424Q	p.R425Q	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	WXS	Illumina HiSeq	Phase_I	Q96JK2	DCAF5_HUMAN			9	1421	-			425					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1274G>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141952	0.77775	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.75938	-0.98;-0.81;-0.81;-0.3	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	L	0.34521	1.04	0.80722	D	1	P;P	0.49358	0.923;0.875	P;B	0.47891	0.56;0.357	T	0.71906	-0.4451	10	0.38643	T	0.18	-8.3451	19.7989	0.96497	0.0:1.0:0.0:0.0	.	424;425	G3V4J7;Q96JK2	.;DCAF5_HUMAN	Q	425;343;343;424	ENSP00000341351:R425Q;ENSP00000451551:R343Q;ENSP00000452052:R343Q;ENSP00000451845:R424Q	ENSP00000341351:R425Q	R	-	2	0	DCAF5	68591882	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	7.336000	0.79245	2.683000	0.91414	0.561000	0.74099	CGA		0.587	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	0	NM_003861		14:69522129
SLC9A9	285195	broad.mit.edu	37	3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438																																						ENST00000316549.6		NA																	0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1477-1479)Gtg>Atg		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							187.0	182.0	183.0					3																	143100949		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143100949C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1477G>A	3.37:g.143100949C>T	ENSP00000320246:p.Val493Met	False	False		Somatic	0				SLC9A9-AS2_ENST00000490153.1_RNA	p.V493M	NM_173653.3	NP_775924.1	WXS	Illumina HiSeq	Phase_I	Q8IVB4	SL9A9_HUMAN			13	1685	-			493					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1477G>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026124	0.54683	.	.	ENSG00000181804	ENST00000316549	T	0.30714	1.52	5.11	4.24	0.50183	.	0.350509	0.24330	N	0.039471	T	0.33177	0.0854	M	0.80332	2.49	0.46542	D	0.999099	P	0.38420	0.63	B	0.33750	0.169	T	0.29336	-1.0015	10	0.66056	D	0.02	.	9.1529	0.36973	0.0:0.9029:0.0:0.0971	.	493	Q8IVB4	SL9A9_HUMAN	M	493	ENSP00000320246:V493M	ENSP00000320246:V493M	V	-	1	0	SLC9A9	144583639	0.990000	0.36364	0.987000	0.45799	0.986000	0.74619	1.403000	0.34612	1.376000	0.46267	0.655000	0.94253	GTG		0.438	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	0	NM_173653		3:143100949
MUC17	140453	broad.mit.edu	37	7	100679220	100679220	+	Missense_Mutation	SNP	C	C	T	rs374713003		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:100679220C>T	ENST00000306151.4	+	3	4587	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1508	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAATCTCAACGCCTAGTGAA	0.473																																						ENST00000306151.4		NA																	0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4522-4524)aCg>aTg		mucin 17, cell surface associated		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	209.0	197.0	201.0		4523	-0.1	0.0	7		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1508/4494	100679220	2,13004	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679220C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4523C>T	7.37:g.100679220C>T	ENSP00000302716:p.Thr1508Met	False	False		Somatic	0					p.T1508M	NM_001040105.1	NP_001035194.1	WXS	Illumina HiSeq	Phase_I	Q685J3	MUC17_HUMAN			3	4587	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1508			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4523C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.032	-1.330977	0.01298	2.27E-4	1.16E-4	ENSG00000169876	ENST00000306151	T	0.03330	3.97	0.922	-0.0705	0.13747	.	.	.	.	.	T	0.04092	0.0114	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.53185	0.72	T	0.45454	-0.9260	9	0.32370	T	0.25	.	4.9293	0.13909	0.0:0.6094:0.3906:0.0	.	1508	Q685J3	MUC17_HUMAN	M	1508	ENSP00000302716:T1508M	ENSP00000302716:T1508M	T	+	2	0	MUC17	100465940	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.062000	0.14389	0.011000	0.14865	-1.865000	0.00557	ACG		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	0	NM_001040105		7:100679220
TIAM2	26230	broad.mit.edu	37	6	155450620	155450620	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:155450620G>A	ENST00000461783.3	+	6	1536	c.263G>A	c.(262-264)gGt>gAt	p.G88D	TIAM2_ENST00000529824.2_Missense_Mutation_p.G88D|TIAM2_ENST00000318981.5_Missense_Mutation_p.G88D|TIAM2_ENST00000360366.4_Missense_Mutation_p.G88D|TIAM2_ENST00000456144.1_Missense_Mutation_p.G88D|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	88					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTCTCCAGAGGTGTTGCCTAC	0.552																																						ENST00000461783.3		NA																	0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(262-264)gGt>gAt		T-cell lymphoma invasion and metastasis 2							72.0	65.0	68.0					6																	155450620		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155450620G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.263G>A	6.37:g.155450620G>A	ENSP00000437188:p.Gly88Asp	False	False		Somatic	0				TIAM2_ENST00000318981.5_Missense_Mutation_p.G88D|TIAM2_ENST00000360366.4_Missense_Mutation_p.G88D|TIAM2_ENST00000529824.2_Missense_Mutation_p.G88D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.G88D	p.G88D			WXS	Illumina HiSeq	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	1536	+		Ovarian(120;0.196)	88					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.263G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198064	0.22037	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.06933	3.33;3.24;3.3;3.33;3.32;3.3	5.33	4.46	0.54185	.	0.114029	0.64402	N	0.000011	T	0.03915	0.0110	M	0.62723	1.935	0.80722	D	1	B	0.30021	0.265	B	0.24006	0.05	T	0.15263	-1.0443	10	0.51188	T	0.08	.	7.9497	0.30008	0.0808:0.0:0.7604:0.1588	.	88	Q8IVF5	TIAM2_HUMAN	D	88;334;88;88;88;88;88;88	ENSP00000437188:G88D;ENSP00000434901:G88D;ENSP00000407746:G88D;ENSP00000327315:G88D;ENSP00000353528:G88D;ENSP00000433348:G88D	ENSP00000327315:G88D	G	+	2	0	TIAM2	155492312	0.975000	0.34042	0.131000	0.22000	0.014000	0.08584	2.069000	0.41481	1.230000	0.43646	0.561000	0.74099	GGT		0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	0	NM_012454		6:155450620
LRRC7	57554	broad.mit.edu	37	1	70257750	70257750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70257750C>T	ENST00000035383.5	+	2	244	c.214C>T	c.(214-216)Cga>Tga	p.R72*	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000310961.5_Nonsense_Mutation_p.R77*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R72G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAGCTCTACGAAAACTAAG	0.294																																						ENST00000310961.5		NA																	1	Substitution - Missense(1)	p.R72G(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(229-231)Cga>Tga		leucine rich repeat containing 7							95.0	103.0	100.0					1																	70257750		2202	4295	6497	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70257750C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.214C>T	1.37:g.70257750C>T	ENSP00000035383:p.Arg72*	False	False		Somatic	0				LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R72*	p.R77*			WXS	Illumina HiSeq	Phase_I	Q96NW7	LRRC7_HUMAN			5	647	+			72					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.229C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592986	0.97688	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.68	2.7	0.31948	.	0.148908	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3006	0.60324	0.4547:0.5453:0.0:0.0	.	.	.	.	X	77;110;72;72	.	ENSP00000035383:R72X	R	+	1	2	LRRC7	70030338	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.305000	0.43664	0.277000	0.22141	0.561000	0.74099	CGA		0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	NM_020794		1:70257750
GPR133	283383	broad.mit.edu	37	12	131593364	131593364	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:131593364G>A	ENST00000261654.5	+	18	2542	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	GPR133_ENST00000543617.1_Silent_p.V180V|GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000376682.4_Silent_p.V347V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	661					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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCATGGTGATCAAGGTCT	0.612																																						ENST00000261654.5		NA																	0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1981-1983)gtG>gtA		G protein-coupled receptor 133							176.0	160.0	166.0					12																	131593364		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593364G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1983G>A	12.37:g.131593364G>A		False	False		Somatic	0				GPR133_ENST00000543617.1_Silent_p.V180V|GPR133_ENST00000376682.4_Silent_p.V347V|GPR133_ENST00000535015.1_Silent_p.V693V	p.V661V	NM_198827.3	NP_942122.2	WXS	Illumina HiSeq	Phase_I	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2542	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		661					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1983G>A	CCDS9272.1																																																																																				0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	0	NM_198827		12:131593364
ZNF28	7576	broad.mit.edu	37	19	53303834	53303834	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53303834A>T	ENST00000457749.2	-	4	1383	c.1264T>A	c.(1264-1266)Tat>Aat	p.Y422N	ZNF28_ENST00000360272.4_Missense_Mutation_p.Y369N|ZNF28_ENST00000414252.2_Missense_Mutation_p.Y369N|ZNF28_ENST00000438150.2_Missense_Mutation_p.Y369N	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TATGAATTATATGCAAAAGCC	0.353																																						ENST00000438150.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1105-1107)Tat>Aat		zinc finger protein 28							117.0	124.0	122.0					19																	53303834		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303834A>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1264T>A	19.37:g.53303834A>T	ENSP00000397693:p.Tyr422Asn	False	False		Somatic	0				ZNF28_ENST00000360272.4_Missense_Mutation_p.Y369N|ZNF28_ENST00000457749.2_Missense_Mutation_p.Y422N|ZNF28_ENST00000414252.2_Missense_Mutation_p.Y369N	p.Y369N			WXS	Illumina HiSeq	Phase_I	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1998	-			422					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1105T>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	3.848	-0.032494	0.07543	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09	1.75	-3.5	0.04710	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	N	0.25647	0.755	0.09310	N	1	B	0.23128	0.08	B	0.25140	0.058	T	0.40213	-0.9575	9	0.30854	T	0.27	.	4.1215	0.10108	0.3639:0.3121:0.324:0.0	.	422	P17035	ZNF28_HUMAN	N	369;422;369;369;369	ENSP00000412143:Y369N;ENSP00000397693:Y422N;ENSP00000353410:Y369N;ENSP00000444965:Y369N;ENSP00000375661:Y369N	ENSP00000353410:Y369N	Y	-	1	0	ZNF28	57995646	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-11.752000	0.00003	-1.516000	0.01782	0.165000	0.16767	TAT		0.353	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	0	NM_006969		19:53303834
COL18A1	80781	broad.mit.edu	37	21	46932271	46932271	+	Missense_Mutation	SNP	G	G	A	rs573442861		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46932271G>A	ENST00000359759.4	+	41	5245	c.5224G>A	c.(5224-5226)Gtg>Atg	p.V1742M	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.V1327M|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.V1507M			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1742	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGCCTACATCGTGCTCTGCAT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		14990	0.001		0.0	False		,,,				2504	0.0					ENST00000359759.4		NA																	0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(5224-5226)Gtg>Atg		collagen, type XVIII, alpha 1							26.0	30.0	29.0					21																	46932271		2118	4224	6342	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46932271G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.5224G>A	21.37:g.46932271G>A	ENSP00000352798:p.Val1742Met	False	False		Somatic	0				COL18A1_ENST00000355480.5_Missense_Mutation_p.V1507M|COL18A1_ENST00000400337.2_Missense_Mutation_p.V1327M|SLC19A1_ENST00000567670.1_Intron	p.V1742M			WXS	Illumina HiSeq	Phase_I	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	41	5245	+			1742			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.5224G>A		.	.	.	.	.	.	.	.	.	.	G	16.15	3.041922	0.55003	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.41	3.52	0.40303	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.000000	0.85682	U	0.000000	T	0.77418	0.4127	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.99;0.996;0.994	T	0.80417	-0.1391	10	0.87932	D	0	.	10.9067	0.47084	0.0934:0.0:0.9066:0.0	.	1742;1324;1507;1327	P39060;D3DSM4;P39060-1;P39060-2	COIA1_HUMAN;.;.;.	M	1327;1327;1507;1742;1742;675	ENSP00000383191:V1327M;ENSP00000347665:V1507M;ENSP00000352798:V1742M;ENSP00000339118:V675M	ENSP00000339118:V675M	V	+	1	0	COL18A1	45756699	1.000000	0.71417	0.357000	0.25798	0.012000	0.07955	5.167000	0.64972	1.005000	0.39183	0.549000	0.68633	GTG		0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	0			21:46932271
OSGIN1	29948	broad.mit.edu	37	16	83994666	83994666	+	Silent	SNP	G	G	A	rs376376327		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:83994666G>A	ENST00000343939.2	+	6	1109	c.726G>A	c.(724-726)caG>caA	p.Q242Q	OSGIN1_ENST00000565123.1_Silent_p.Q159Q|OSGIN1_ENST00000393306.1_Silent_p.Q159Q|OSGIN1_ENST00000361711.3_Silent_p.Q159Q			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	242					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						ACTGGATGCAGAAGAAGCGAA	0.572																																						ENST00000343939.2		NA																	0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(724-726)caG>caA		oxidative stress induced growth inhibitor 1		G	,,	0,4400		0,0,2200	64.0	65.0	65.0		726,477,477	0.1	0.2	16		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	242/561,159/478,159/478	83994666	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83994666G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.726G>A	16.37:g.83994666G>A		False	False		Somatic	0				OSGIN1_ENST00000565123.1_Silent_p.Q159Q|OSGIN1_ENST00000393306.1_Silent_p.Q159Q|OSGIN1_ENST00000361711.3_Silent_p.Q159Q	p.Q242Q			WXS	Illumina HiSeq	Phase_I	Q9UJX0	OSGI1_HUMAN			6	1109	+			242					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37	c.726G>A																																																																																					0.572	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	0	NM_013370		16:83994666
PFKFB4	5210	broad.mit.edu	37	3	48563059	48563059	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48563059T>A	ENST00000232375.3	-	10	1143	c.1031A>T	c.(1030-1032)tAt>tTt	p.Y344F	PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	344	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTCCAGTGGATAATTATCCTG	0.557																																						ENST00000232375.3		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1030-1032)tAt>tTt		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							76.0	66.0	69.0					3																	48563059		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48563059T>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1031A>T	3.37:g.48563059T>A	ENSP00000232375:p.Tyr344Phe	False	False		Somatic	0				PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000545984.1_3'UTR	p.Y344F	NM_004567.2	NP_004558.1	WXS	Illumina HiSeq	Phase_I	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	10	1143	-			344			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1031A>T	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822425	0.32237	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000541519	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.1	4.1	0.47936	Histidine phosphatase superfamily, clade-1 (2);	0.252467	0.41097	D	0.000943	T	0.48960	0.1529	N	0.12663	0.25	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.17722	0.019;0.001;0.017	T	0.44787	-0.9305	10	0.37606	T	0.19	-5.5052	7.0254	0.24936	0.2025:0.0:0.0:0.7974	.	333;337;344	B7Z5C3;Q66S35;Q16877	.;.;F264_HUMAN	F	344;333;337;310	ENSP00000232375:Y344F;ENSP00000438908:Y333F;ENSP00000388394:Y337F;ENSP00000437446:Y310F	ENSP00000232375:Y344F	Y	-	2	0	PFKFB4	48538063	0.498000	0.26075	1.000000	0.80357	0.990000	0.78478	3.035000	0.49759	1.844000	0.53588	0.383000	0.25322	TAT		0.557	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	0	NM_004567		3:48563059
CADM2	253559	broad.mit.edu	37	3	85961592	85961592	+	Missense_Mutation	SNP	G	G	A	rs150681488		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:85961592G>A	ENST00000407528.2	+	5	634	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q|CADM2_ENST00000383699.3_Missense_Mutation_p.R200Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	191	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGGACTTCCGAGTGGACCGG	0.433																																						ENST00000383699.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(598-600)cGa>cAa		cell adhesion molecule 2		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	100.0	80.0	87.0		572,599,578	4.6	1.0	3	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CADM2	NM_001167674.1,NM_001167675.1,NM_153184.3	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	191/436,200/405,193/438	85961592	1,13005	2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961592G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.572G>A	3.37:g.85961592G>A	ENSP00000384575:p.Arg191Gln	False	False		Somatic	0				CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q|CADM2_ENST00000407528.2_Missense_Mutation_p.R191Q	p.R200Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	WXS	Illumina HiSeq	Phase_I	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	6	1226	+		Lung NSC(201;0.0148)	191			Ig-like C2-type 1.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.599G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020020	0.19433	0.0	1.16E-4	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76578	-1.03;-1.03;-1.03	5.5	4.62	0.57501	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.280225	0.38058	N	0.001838	T	0.43411	0.1246	N	0.01874	-0.695	0.32061	N	0.595716	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.08055	0.002;0.002;0.003	T	0.49606	-0.8922	10	0.07030	T	0.85	.	3.7449	0.08544	0.2201:0.0:0.5739:0.206	.	193;200;191	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	200;191;193	ENSP00000373200:R200Q;ENSP00000384575:R191Q;ENSP00000384193:R193Q	ENSP00000373200:R200Q	R	+	2	0	CADM2	86044282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.202000	0.58446	2.583000	0.87209	0.591000	0.81541	CGA		0.433	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	0	NM_153184		3:85961592
COL11A1	1301	broad.mit.edu	37	1	103400665	103400665	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:103400665G>C	ENST00000370096.3	-	45	3755	c.3443C>G	c.(3442-3444)cCt>cGt	p.P1148R	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1160R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1148	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGACCGGGAGGGCCCTGCAG	0.448																																						ENST00000358392.2		NA																	0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3478-3480)cCt>cGt		collagen, type XI, alpha 1							30.0	32.0	31.0					1																	103400665		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400665G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3443C>G	1.37:g.103400665G>C	ENSP00000359114:p.Pro1148Arg	True	False		Somatic	0				COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1148R|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R	p.P1160R	NM_080629.2	NP_542196.2	WXS	Illumina HiSeq	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	45	3796	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1148			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3479C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171191	0.57584	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.989;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.967;0.999;0.997;0.997	D	0.99935	1.1349	10	0.87932	D	0	.	19.4476	0.94854	0.0:0.0:1.0:0.0	.	1032;1109;1160;1148;368	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1148;1160;1109;368;1032	ENSP00000359114:P1148R;ENSP00000351163:P1160R;ENSP00000302551:P1109R;ENSP00000426533:P1032R	ENSP00000302551:P1109R	P	-	2	0	COL11A1	103173253	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.813000	0.99286	2.588000	0.87417	0.655000	0.94253	CCT		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	0	NM_080630		1:103400665
KCNA1	3736	broad.mit.edu	37	12	5021899	5021899	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:5021899C>A	ENST00000382545.3	+	2	2462	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	452				S -> Y (in Ref. 1; AAA36139). {ECO:0000305}.	potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	ATGAGCAAGTCTGAGTACATG	0.483																																						ENST00000382545.3		NA																	0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1354-1356)tCt>tAt		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						200.0	195.0	196.0					12																	5021899		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021899C>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1355C>A	12.37:g.5021899C>A	ENSP00000371985:p.Ser452Tyr	False	False		Somatic	0				KCNA1_ENST00000543874.2_Intron	p.S452Y	NM_000217.2	NP_000208.2	WXS	Illumina HiSeq	Phase_I	Q09470	KCNA1_HUMAN			2	2462	+			452	S -> Y (in Ref. 1; AAA36139).				A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1355C>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790696	0.70452	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96716	-4.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	M	0.87269	2.87	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	D	0.98623	1.0668	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	452	Q09470	KCNA1_HUMAN	Y	452	ENSP00000371985:S452Y	ENSP00000228858:S452Y	S	+	2	0	KCNA1	4892160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	TCT		0.483	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	0	NM_000217		12:5021899
TMEM132E	124842	broad.mit.edu	37	17	32953262	32953262	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:32953262C>T	ENST00000321639.5	+	2	512	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	62						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGGGAGGCGCGGCCCCCGTC	0.731																																						ENST00000321639.5		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(184-186)Cgg>Tgg		transmembrane protein 132E							10.0	11.0	11.0					17																	32953262		2174	4249	6423	SO:0001583	missense	124842					integral to membrane		g.chr17:32953262C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.184C>T	17.37:g.32953262C>T	ENSP00000316532:p.Arg62Trp	False	False		Somatic	0					p.R62W	NM_207313.1	NP_997196.1	WXS	Illumina HiSeq	Phase_I	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	512	+			62					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.184C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387866	0.61956	.	.	ENSG00000181291	ENST00000321639	T	0.11495	2.77	4.82	3.81	0.43845	.	0.445588	0.24391	N	0.038924	T	0.09512	0.0234	N	0.19112	0.55	0.21020	N	0.999805	D	0.60160	0.987	P	0.47705	0.555	T	0.11108	-1.0601	10	0.66056	D	0.02	-27.4389	8.5268	0.33309	0.1556:0.5772:0.2672:0.0	.	62	Q6IEE7	T132E_HUMAN	W	62	ENSP00000316532:R62W	ENSP00000316532:R62W	R	+	1	2	TMEM132E	29977375	0.834000	0.29399	0.889000	0.34880	0.942000	0.58702	1.415000	0.34748	0.913000	0.36797	0.478000	0.44815	CGG		0.731	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	0	NM_207313		17:32953262
DSP	1832	broad.mit.edu	37	6	7571743	7571743	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:7571743C>G	ENST00000379802.3	+	14	2170	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	DSP_ENST00000418664.2_Missense_Mutation_p.S610C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	610	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATACAGTCTCAGTTCACC	0.488																																						ENST00000379802.3		NA																	0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1828-1830)tCt>tGt		desmoplakin							195.0	180.0	185.0					6																	7571743		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7571743C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1829C>G	6.37:g.7571743C>G	ENSP00000369129:p.Ser610Cys	False	False		Somatic	0				DSP_ENST00000418664.2_Missense_Mutation_p.S610C	p.S610C	NM_004415.2	NP_004406.2	WXS	Illumina HiSeq	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	14	2170	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	610			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1829C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988573	0.53934	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.75050	-0.57;-0.9	5.64	5.64	0.86602	.	0.352625	0.24412	N	0.038749	T	0.51126	0.1656	N	0.14661	0.345	0.35388	D	0.790495	B;B	0.28055	0.199;0.199	B;B	0.26864	0.074;0.074	T	0.58707	-0.7589	10	0.72032	D	0.01	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	657;610	Q4LE79;P15924	.;DESP_HUMAN	C	610;610;415	ENSP00000369129:S610C;ENSP00000396591:S610C	ENSP00000369129:S610C	S	+	2	0	DSP	7516742	0.998000	0.40836	0.964000	0.40570	0.988000	0.76386	3.766000	0.55280	2.664000	0.90586	0.655000	0.94253	TCT		0.488	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	0	NM_004415		6:7571743
PTPN21	11099	broad.mit.edu	37	14	89016677	89016677	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:89016677G>A	ENST00000556564.1	-	2	369	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	PTPN21_ENST00000328736.3_Silent_p.L29L|PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.3_ENST00000556328.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	29	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTATTAAGCAGTTGGATCCGG	0.567																																						ENST00000556564.1		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(85-87)Ctg>Ttg		protein tyrosine phosphatase, non-receptor type 21							120.0	115.0	116.0					14																	89016677		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:89016677G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.85C>T	14.37:g.89016677G>A		False	False		Somatic	0				PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L29L	p.L29L	NM_007039.3	NP_008970.2	WXS	Illumina HiSeq	Phase_I	Q16825	PTN21_HUMAN			2	369	-			29			FERM.			Silent	SNP	ENST00000556564.1	37	c.85C>T	CCDS9884.1																																																																																				0.567	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1	0			14:89016677
HCN1	348980	broad.mit.edu	37	5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:45262241C>T	ENST00000303230.4	-	8	2512	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	819					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCGTCACGGGTTGAGGG	0.677																																						ENST00000303230.4		NA																	0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2455-2457)Gtg>Atg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							31.0	33.0	32.0					5																	45262241		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262241C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2455G>A	5.37:g.45262241C>T	ENSP00000307342:p.Val819Met	True	False		Somatic	0					p.V819M	NM_021072.3	NP_066550.2	WXS	Illumina HiSeq	Phase_I	O60741	HCN1_HUMAN			8	2512	-			819						Missense_Mutation	SNP	ENST00000303230.4	37	c.2455G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	3.532	-0.095427	0.07010	.	.	ENSG00000164588	ENST00000303230	D	0.97430	-4.38	5.02	3.2	0.36748	.	0.562530	0.16681	N	0.203943	D	0.91851	0.7421	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	D	0.85041	0.0923	10	0.62326	D	0.03	.	6.1826	0.20480	0.0:0.6436:0.1339:0.2225	.	819	O60741	HCN1_HUMAN	M	819	ENSP00000307342:V819M	ENSP00000307342:V819M	V	-	1	0	HCN1	45297998	0.033000	0.19621	0.118000	0.21660	0.722000	0.41435	1.321000	0.33678	0.596000	0.29794	0.655000	0.94253	GTG		0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	0	NM_021072		5:45262241
KRTAP5-3	387266	broad.mit.edu	37	11	1629414	1629414	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:1629414C>T	ENST00000399685.1	-	1	279	c.202G>A	c.(202-204)Ggc>Agc	p.G68S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	68	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCACAAGAGCCACAGACCCCC	0.667																																						ENST00000399685.1		NA																	0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(202-204)Ggc>Agc		keratin associated protein 5-3							56.0	75.0	69.0					11																	1629414		2192	4296	6488	SO:0001583	missense	387266					keratin filament		g.chr11:1629414C>T	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.202G>A	11.37:g.1629414C>T	ENSP00000382592:p.Gly68Ser	False	False		Somatic	0					p.G68S	NM_001012708.2	NP_001012726.1	WXS	Illumina HiSeq	Phase_I	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	279	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	68			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.202G>A	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.519678	0.00967	.	.	ENSG00000196224	ENST00000399685	T	0.01548	4.78	3.39	3.39	0.38822	.	.	.	.	.	T	0.03564	0.0102	M	0.66439	2.03	0.20975	N	0.999817	P	0.46142	0.873	P	0.46452	0.517	T	0.17653	-1.0362	9	0.06757	T	0.87	.	12.6532	0.56774	0.0:1.0:0.0:0.0	.	68	Q6L8H2	KRA53_HUMAN	S	68	ENSP00000382592:G68S	ENSP00000382592:G68S	G	-	1	0	KRTAP5-3	1585990	0.942000	0.31987	0.997000	0.53966	0.006000	0.05464	0.591000	0.23969	1.616000	0.50265	0.289000	0.19496	GGC		0.667	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1	0			11:1629414
NKX2-4	644524	broad.mit.edu	37	20	21376877	21376877	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:21376877C>T	ENST00000351817.4	-	2	1365	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	246					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CTTGGCCTGCCGTTTCATCTT	0.711																																						ENST00000351817.4		NA																	0				lung(2)|upper_aerodigestive_tract(1)	3						c.(736-738)cGg>cAg		NK2 homeobox 4							33.0	32.0	32.0					20																	21376877		2203	4300	6503	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376877C>T		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.737G>A	20.37:g.21376877C>T	ENSP00000345147:p.Arg246Gln	False	False		Somatic	0					p.R246Q	NM_033176.1	NP_149416.1	WXS	Illumina HiSeq	Phase_I	Q9H2Z4	NKX24_HUMAN			2	1365	-			246					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.737G>A	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394647	0.83011	.	.	ENSG00000125816	ENST00000351817	D	0.96396	-4.0	3.49	3.49	0.39957	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.56097	U	0.000036	D	0.97885	0.9305	M	0.84156	2.68	0.58432	D	0.999993	D	0.69078	0.997	D	0.72982	0.979	D	0.98753	1.0721	10	0.87932	D	0	.	14.7591	0.69593	0.0:1.0:0.0:0.0	.	246	Q9H2Z4	NKX24_HUMAN	Q	246	ENSP00000345147:R246Q	ENSP00000345147:R246Q	R	-	2	0	NKX2-4	21324877	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	7.095000	0.76952	1.781000	0.52344	0.484000	0.47621	CGG		0.711	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2	0			20:21376877
RP1	6101	broad.mit.edu	37	8	55533656	55533656	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:55533656G>A	ENST00000220676.1	+	2	278	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	44	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTACAAGAGCGGAGACCCCCA	0.547																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1		NA																	0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(130-132)Gga>Aga		retinitis pigmentosa 1 (autosomal dominant)							106.0	95.0	99.0					8																	55533656		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533656G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.130G>A	8.37:g.55533656G>A	ENSP00000220676:p.Gly44Arg	False	False		Somatic	0					p.G44R	NM_006269.1	NP_006260.1	WXS	Illumina HiSeq	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	278	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	44			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.130G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162331	0.94727	.	.	ENSG00000104237	ENST00000220676	D	0.95272	-3.66	5.44	5.44	0.79542	Doublecortin domain (4);	0.000000	0.56097	D	0.000023	D	0.98182	0.9399	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99164	1.0862	10	0.87932	D	0	-18.28	19.2628	0.93974	0.0:0.0:1.0:0.0	.	44	P56715	RP1_HUMAN	R	44	ENSP00000220676:G44R	ENSP00000220676:G44R	G	+	1	0	RP1	55696209	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.790000	0.99075	2.545000	0.85829	0.650000	0.86243	GGA		0.547	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	0	NM_006269		8:55533656
PRRC2C	23215	broad.mit.edu	37	1	171509737	171509737	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:171509737C>T	ENST00000338920.4	+	16	3363	c.3126C>T	c.(3124-3126)gtC>gtT	p.V1042V	PRRC2C_ENST00000367742.3_Silent_p.V1044V|PRRC2C_ENST00000426496.2_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1042					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CCGAAAAGGTCACTGAAAAAG	0.468																																						ENST00000367742.3		NA																	0					NA						c.(3130-3132)gtC>gtT		proline-rich coiled-coil 2C							97.0	96.0	97.0					1																	171509737		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171509737C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3126C>T	1.37:g.171509737C>T		False	False		Somatic	0				PRRC2C_ENST00000392078.3_Silent_p.V1044V|PRRC2C_ENST00000426496.2_Silent_p.V1042V|PRRC2C_ENST00000338920.4_Silent_p.V1042V	p.V1044V			WXS	Illumina HiSeq	Phase_I	Q9Y520	PRC2C_HUMAN			16	3374	+			1042					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.3132C>T	CCDS1296.2																																																																																				0.468	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	0	NM_015172		1:171509737
COL4A2	1284	broad.mit.edu	37	13	111102671	111102671	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:111102671G>A	ENST00000360467.5	+	20	1515	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	403	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAGGCCTGCCGGGTGAGATGG	0.632																																						ENST00000360467.5		NA																	0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1207-1209)ccG>ccA		collagen, type IV, alpha 2							56.0	60.0	59.0					13																	111102671		1924	4136	6060	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111102671G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1209G>A	13.37:g.111102671G>A		True	False		Somatic	0					p.P403P	NM_001846.2	NP_001837.2	WXS	Illumina HiSeq	Phase_I	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		20	1515	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	403			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.1209G>A	CCDS41907.1																																																																																				0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	0	NM_001846		13:111102671
VPS13D	55187	broad.mit.edu	37	1	12364627	12364627	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:12364627C>T	ENST00000358136.3	+	26	6411	c.6281C>T	c.(6280-6282)aCg>aTg	p.T2094M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGACAAGCACGGAGGAGCCC	0.522																																						ENST00000358136.3		NA																	0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6280-6282)aCg>aTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							63.0	59.0	60.0					1																	12364627		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12364627C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6281C>T	1.37:g.12364627C>T	ENSP00000350854:p.Thr2094Met	False	False		Somatic	0				VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	p.T2094M	NM_015378.2	NP_056193.2	WXS	Illumina HiSeq	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	26	6411	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2094						Missense_Mutation	SNP	ENST00000358136.3	37	c.6281C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.278|3.278	-0.147578|-0.147578	0.06627|0.06627	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53206	.|0.63;0.64	5.94|5.94	1.31|1.31	0.21738|0.21738	.|.	.|1.074530	.|0.07029	.|N	.|0.828020	T|T	0.27798|0.27798	0.0684|0.0684	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13145	.|0.007;0.002	.|B;B	.|0.09377	.|0.004;0.002	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.33940	.|T	.|0.23	.|.	8.7283|8.7283	0.34483|0.34483	0.0:0.6002:0.0:0.3998|0.0:0.6002:0.0:0.3998	.|.	.|2094;2094	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	W|M	917|2094	.|ENSP00000348666:T2094M;ENSP00000350854:T2094M	.|ENSP00000348666:T2094M	R|T	+|+	1|2	2|0	VPS13D|VPS13D	12287214|12287214	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.256000|0.256000	0.18351|0.18351	0.362000|0.362000	0.24319|0.24319	-0.224000|-0.224000	0.12420|0.12420	CGG|ACG		0.522	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	0	NM_015378		1:12364627
ATF5	22809	broad.mit.edu	37	19	50436260	50436260	+	Missense_Mutation	SNP	G	G	A	rs376565297	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:50436260G>A	ENST00000423777.2	+	3	1137	c.760G>A	c.(760-762)Gca>Aca	p.A254T	CTC-326K19.6_ENST00000451973.1_Intron|MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_Missense_Mutation_p.A254T	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	254	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	GAAGGAACGGGCAGAGTCCGT	0.667													G|||	4	0.000798722	0.003	0.0	5008	,	,		14028	0.0		0.0	False		,,,				2504	0.0				GBM(48;768 989 9196 9511 26329)	ENST00000423777.2		NA																	0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(760-762)Gca>Aca		activating transcription factor 5		G	THR/ALA,THR/ALA	1,4403		0,1,2201	37.0	40.0	39.0		760,760	4.5	0.9	19		39	0,8600		0,0,4300	no	missense,missense	ATF5	NM_001193646.1,NM_012068.5	58,58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	254/283,254/283	50436260	1,13003	2202	4300	6502	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50436260G>A	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.760G>A	19.37:g.50436260G>A	ENSP00000396954:p.Ala254Thr	True	False		Somatic	0				ATF5_ENST00000595125.1_Missense_Mutation_p.A254T|CTC-326K19.6_ENST00000451973.1_Intron	p.A254T	NM_001193646.1	NP_001180575.1	WXS	Illumina HiSeq	Phase_I	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	1137	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	254					B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.760G>A	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734599	0.69189	2.27E-4	0.0	ENSG00000169136	ENST00000423777	T	0.56776	0.44	4.54	4.54	0.55810	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.071375	0.53938	D	0.000044	T	0.66992	0.2846	M	0.69358	2.11	0.48511	D	0.999666	D	0.69078	0.997	D	0.72338	0.977	T	0.68880	-0.5292	10	0.56958	D	0.05	-6.7244	10.1231	0.42632	0.0:0.0:0.8:0.2	.	254	Q9Y2D1	ATF5_HUMAN	T	254	ENSP00000396954:A254T	ENSP00000396954:A254T	A	+	1	0	ATF5	55128072	1.000000	0.71417	0.950000	0.38849	0.353000	0.29299	7.197000	0.77814	2.079000	0.62486	0.448000	0.29417	GCA		0.667	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2	0			19:50436260
FARP2	9855	broad.mit.edu	37	2	242312551	242312551	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242312551T>A	ENST00000264042.3	+	2	199	c.29T>A	c.(28-30)gTc>gAc	p.V10D	FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	10					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACATACAGAGTCCTGCAGACT	0.463																																						ENST00000264042.3		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(28-30)gTc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							57.0	59.0	58.0					2																	242312551		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242312551T>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.29T>A	2.37:g.242312551T>A	ENSP00000264042:p.Val10Asp	False	False		Somatic	0				FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D	p.V10D	NM_014808.2	NP_055623.1	WXS	Illumina HiSeq	Phase_I	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	2	199	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	10					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.29T>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876107	0.33162	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082;ENST00000445489	T;D;D;T;T	0.83591	-1.11;-1.73;-1.74;-0.31;-1.13	5.65	-2.92	0.05615	.	0.515409	0.19294	N	0.117813	T	0.80737	0.4680	L	0.57536	1.79	0.27964	N	0.936655	P;P;P	0.46512	0.879;0.773;0.664	P;P;B	0.48270	0.572;0.572;0.235	T	0.76250	-0.3028	10	0.49607	T	0.09	.	11.2139	0.48815	0.0:0.4967:0.0:0.5033	.	10;10;10	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	10	ENSP00000264042:V10D;ENSP00000443876:V10D;ENSP00000362384:V10D;ENSP00000393376:V10D;ENSP00000388167:V10D	ENSP00000264042:V10D	V	+	2	0	FARP2	241961224	0.907000	0.30839	0.057000	0.19452	0.532000	0.34746	1.218000	0.32467	-0.815000	0.04346	0.460000	0.39030	GTC		0.463	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1	0			2:242312551
COL15A1	1306	broad.mit.edu	37	9	101802811	101802811	+	Silent	SNP	C	C	T	rs146647282	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:101802811C>T	ENST00000375001.3	+	23	2907	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	828	Collagen-like 3.|Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGGCCGGACGGGTTGCCTG	0.587																																						ENST00000375001.3		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2482-2484)gaC>gaT		collagen, type XV, alpha 1		C		0,4406		0,0,2203	179.0	155.0	163.0		2484	-5.3	0.0	9	dbSNP_134	163	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	COL15A1	NM_001855.3		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		828/1389	101802811	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101802811C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2484C>T	9.37:g.101802811C>T		True	False		Somatic	0					p.D828D	NM_001855.3	NP_001846.3	WXS	Illumina HiSeq	Phase_I	P39059	COFA1_HUMAN			23	2907	+		Acute lymphoblastic leukemia(62;0.0562)	828			Triple-helical region 4 (COL4).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.2484C>T	CCDS35081.1																																																																																				0.587	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	0	NM_001855		9:101802811
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578406
SLC6A1	6529	broad.mit.edu	37	3	11067497	11067497	+	Silent	SNP	C	C	T	rs144034291		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:11067497C>T	ENST00000287766.4	+	9	1309	c.888C>T	c.(886-888)taC>taT	p.Y296Y	SLC6A1_ENST00000536032.1_Silent_p.Y118Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	296					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TCTTCTCATACGGGCTGGGCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17698	0.0		0.001	False		,,,				2504	0.0					ENST00000287766.4		NA																	0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(886-888)taC>taT		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)	C		1,4405	2.1+/-5.4	0,1,2202	108.0	110.0	109.0		888	-3.3	1.0	3	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	SLC6A1	NM_003042.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		296/600	11067497	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067497C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.888C>T	3.37:g.11067497C>T		True	False		Somatic	0				SLC6A1_ENST00000536032.1_Silent_p.Y118Y	p.Y296Y	NM_003042.3	NP_003033.3	WXS	Illumina HiSeq	Phase_I	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	9	1309	+		Ovarian(110;0.0392)	296					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.888C>T	CCDS2603.1																																																																																				0.532	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	0	NM_003042		3:11067497
PLEKHG1	57480	broad.mit.edu	37	6	151054871	151054871	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:151054871G>A	ENST00000358517.2	+	2	265	c.54G>A	c.(52-54)tcG>tcA	p.S18S	PLEKHG1_ENST00000367328.1_Silent_p.S18S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	18							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CATCATCCTCGGCCTCTTCCC	0.542																																						ENST00000367328.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(52-54)tcG>tcA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							97.0	97.0	97.0					6																	151054871		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151054871G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.54G>A	6.37:g.151054871G>A		False	False		Somatic	0				PLEKHG1_ENST00000358517.2_Silent_p.S18S	p.S18S	NM_001029884.1	NP_001025055.1	WXS	Illumina HiSeq	Phase_I	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	366	+			18					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.54G>A	CCDS34552.1																																																																																				0.542	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	0			6:151054871
EXOG	9941	broad.mit.edu	37	3	38539118	38539118	+	Splice_Site	SNP	A	A	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:38539118A>T	ENST00000287675.5	+	2	259		c.e2-1		EXOG_ENST00000422077.2_Intron|EXOG_ENST00000358249.2_Splice_Site	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like						DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TTTCATTTTTAGGATCTGCAG	0.373																																						ENST00000287675.5		NA																	0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.e2-1		endo/exonuclease (5'-3'), endonuclease G-like							35.0	36.0	36.0					3																	38539118		2203	4298	6501	SO:0001630	splice_region_variant	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38539118A>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.164-1A>T	3.37:g.38539118A>T		True	False		Somatic	0				EXOG_ENST00000422077.2_Intron|EXOG_ENST00000358249.2_Splice_Site		NM_005107.3	NP_005098.2	WXS	Illumina HiSeq	Phase_I	Q9Y2C4	EXOG_HUMAN			2	259	+			NA					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Splice_Site	SNP	ENST00000287675.5	37		CCDS2680.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884753	0.51908	.	.	ENSG00000157036	ENST00000287675;ENST00000453767	.	.	.	5.16	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5322	0.50616	0.866:0.0:0.0:0.134	.	.	.	.	.	-1	.	.	.	+	.	.	EXOG	38514122	1.000000	0.71417	0.094000	0.20943	0.430000	0.31655	6.205000	0.72148	0.966000	0.38159	0.460000	0.39030	.		0.373	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	0	NM_005107	Intron	3:38539118
LRBA	987	broad.mit.edu	37	4	151738335	151738335	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:151738335A>G	ENST00000357115.3	-	31	5489	c.5246T>C	c.(5245-5247)gTc>gCc	p.V1749A	LRBA_ENST00000510413.1_Missense_Mutation_p.V1749A|LRBA_ENST00000535741.1_Missense_Mutation_p.V1749A|LRBA_ENST00000507224.1_Missense_Mutation_p.V1749A	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1749						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AACCACACTGACAGCATTGGT	0.398																																						ENST00000535741.1		NA																	0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5245-5247)gTc>gCc		LPS-responsive vesicle trafficking, beach and anchor containing							193.0	177.0	183.0					4																	151738335		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151738335A>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5246T>C	4.37:g.151738335A>G	ENSP00000349629:p.Val1749Ala	False	False		Somatic	0				LRBA_ENST00000507224.1_Missense_Mutation_p.V1749A|LRBA_ENST00000510413.1_Missense_Mutation_p.V1749A|LRBA_ENST00000357115.3_Missense_Mutation_p.V1749A	p.V1749A			WXS	Illumina HiSeq	Phase_I	P50851	LRBA_HUMAN			31	5719	-	all_hematologic(180;0.151)		1749					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5246T>C	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.384896|4.384896	0.82792|0.82792	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.58060	.|0.77;0.92;0.77;0.36	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.860939	.|0.10195	.|N	.|0.704143	T|T	0.72875|0.72875	0.3515|0.3515	M|M	0.72479|0.72479	2.2|2.2	0.58432|0.58432	D|D	0.999994|0.999994	.|P;D	.|0.67145	.|0.745;0.996	.|B;D	.|0.76071	.|0.251;0.987	T|T	0.63184|0.63184	-0.6694|-0.6694	5|10	.|0.27082	.|T	.|0.32	.|.	16.4323|16.4323	0.83853|0.83853	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1749;1749	.|P50851;P50851-2	.|LRBA_HUMAN;.	P|A	402|1749	.|ENSP00000446299:V1749A;ENSP00000421552:V1749A;ENSP00000349629:V1749A;ENSP00000422180:V1749A	.|ENSP00000349629:V1749A	S|V	-|-	1|2	0|0	LRBA|LRBA	151957785|151957785	0.999000|0.999000	0.42202|0.42202	0.971000|0.971000	0.41717|0.41717	0.980000|0.980000	0.70556|0.70556	4.766000|4.766000	0.62279|0.62279	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.398	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	0			4:151738335
SLC2A10	81031	broad.mit.edu	37	20	45354423	45354423	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:45354423G>A	ENST00000359271.2	+	2	998	c.748G>A	c.(748-750)Gtg>Atg	p.V250M		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	250					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCAGCCCAACGTGCTGTGCTA	0.622																																						ENST00000359271.2		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(748-750)Gtg>Atg		solute carrier family 2 (facilitated glucose transporter), member 10							114.0	103.0	107.0					20																	45354423		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354423G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.748G>A	20.37:g.45354423G>A	ENSP00000352216:p.Val250Met	True	False		Somatic	0					p.V250M	NM_030777.3	NP_110404.1	WXS	Illumina HiSeq	Phase_I	O95528	GTR10_HUMAN			2	998	+		Myeloproliferative disorder(115;0.0122)	250					A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.748G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586473	0.66105	.	.	ENSG00000197496	ENST00000359271	T	0.76448	-1.02	5.86	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.057050	0.64402	D	0.000002	D	0.86146	0.5863	M	0.76170	2.325	0.49798	D	0.999825	D	0.89917	1.0	D	0.76071	0.987	D	0.87084	0.2168	10	0.87932	D	0	-18.7043	10.4704	0.44633	0.0688:0.0:0.7961:0.1351	.	250	O95528	GTR10_HUMAN	M	250	ENSP00000352216:V250M	ENSP00000352216:V250M	V	+	1	0	SLC2A10	44787830	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	4.571000	0.60879	1.432000	0.47375	0.655000	0.94253	GTG		0.622	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2	0			20:45354423
FZD1	8321	broad.mit.edu	37	7	90894600	90894600	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:90894600C>T	ENST00000287934.2	+	1	818	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	135	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCATGCCCAACCTGCTGG	0.617																																						ENST00000287934.2		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(403-405)ccC>ccT		frizzled family receptor 1							168.0	144.0	152.0					7																	90894600		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894600C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.405C>T	7.37:g.90894600C>T		True	False		Somatic	0					p.P135P	NM_003505.1	NP_003496.1	WXS	Illumina HiSeq	Phase_I	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	818	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		135			FZ.		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.405C>T	CCDS5620.1																																																																																				0.617	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	0	NM_003505		7:90894600
LRRC7	57554	broad.mit.edu	37	1	70541973	70541973	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70541973C>A	ENST00000035383.5	+	22	4360	c.4330C>A	c.(4330-4332)Cca>Aca	p.P1444T	LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T|LRRC7_ENST00000310961.5_Missense_Mutation_p.P1402T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1444						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGATGGATATCCAGAGCAGGT	0.463																																						ENST00000310961.5		NA																	0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(4204-4206)Cca>Aca		leucine rich repeat containing 7							60.0	61.0	60.0					1																	70541973		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541973C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4330C>A	1.37:g.70541973C>A	ENSP00000035383:p.Pro1444Thr	False	False		Somatic	0				LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1444T	p.P1402T			WXS	Illumina HiSeq	Phase_I	Q96NW7	LRRC7_HUMAN			24	4622	+			1444					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4204C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575374	0.65878	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36520	1.25;1.31;2.41	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.129386	0.53938	D	0.000049	T	0.20414	0.0491	N	0.08118	0	0.54753	D	0.999982	P;P;P	0.44429	0.787;0.835;0.608	B;P;B	0.47645	0.372;0.553;0.18	T	0.04930	-1.0917	10	0.37606	T	0.19	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	728;1397;1444	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	1402;1444;728;1220	ENSP00000309245:P1402T;ENSP00000035383:P1444T;ENSP00000394867:P728T	ENSP00000035383:P1444T	P	+	1	0	LRRC7	70314561	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.176000	0.71955	2.937000	0.99478	0.650000	0.86243	CCA		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	0	NM_020794		1:70541973
BFSP2	8419	broad.mit.edu	37	3	133119141	133119141	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:133119141C>T	ENST00000302334.2	+	1	303	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	72	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTGGGTGCCCGTGTGACCCG	0.667																																						ENST00000302334.2		NA																	0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(214-216)Cgt>Tgt		beaded filament structural protein 2, phakinin							45.0	51.0	49.0					3																	133119141		2203	4299	6502	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119141C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.214C>T	3.37:g.133119141C>T	ENSP00000304987:p.Arg72Cys	True	False		Somatic	0					p.R72C	NM_003571.2	NP_003562.1	WXS	Illumina HiSeq	Phase_I	Q13515	BFSP2_HUMAN			1	303	+			72			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.214C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344701	0.95807	.	.	ENSG00000170819	ENST00000302334	D	0.84223	-1.82	5.95	5.95	0.96441	.	0.205916	0.34507	N	0.003911	D	0.90752	0.7097	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.60173	0.87	D	0.88493	0.3077	10	0.35671	T	0.21	-9.7541	20.3789	0.98926	0.0:1.0:0.0:0.0	.	72	Q13515	BFSP2_HUMAN	C	72	ENSP00000304987:R72C	ENSP00000304987:R72C	R	+	1	0	BFSP2	134601831	1.000000	0.71417	0.933000	0.37362	0.992000	0.81027	6.977000	0.76141	2.826000	0.97356	0.563000	0.77884	CGT		0.667	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1	0			3:133119141
GRIA1	2890	broad.mit.edu	37	5	153026597	153026597	+	Silent	SNP	G	G	A	rs370782311		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:153026597G>A	ENST00000285900.5	+	3	673	c.330G>A	c.(328-330)acG>acA	p.T110T	GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000521843.2_Silent_p.T41T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	110					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.T110T(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCTTCATTACGCCGAGCTTTC	0.498																																						ENST00000285900.5		NA																	2	Substitution - coding silent(2)	p.T110T(2)	endometrium(2)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(328-330)acG>acA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	,	1,4405		0,1,2202	169.0	154.0	159.0		330,330	-8.9	0.0	5		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	110/907,110/907	153026597	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153026597G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.330G>A	5.37:g.153026597G>A		False	False		Somatic	0				GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.T41T	p.T110T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	WXS	Illumina HiSeq	Phase_I	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	673	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	110					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.330G>A	CCDS4322.1																																																																																				0.498	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3	0			5:153026597
OR2M4	26245	broad.mit.edu	37	1	248403055	248403055	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248403055G>A	ENST00000306687.1	+	1	825	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	275					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGATGGTGTCGGCCTTCTACA	0.488																																						ENST00000306687.1		NA																	0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(823-825)tcG>tcA		olfactory receptor, family 2, subfamily M, member 4							122.0	105.0	111.0					1																	248403055		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403055G>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.825G>A	1.37:g.248403055G>A		False	False		Somatic	0					p.S275S	NM_017504.1	NP_059974.1	WXS	Illumina HiSeq	Phase_I	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	825	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		275					Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.825G>A	CCDS31108.1																																																																																				0.488	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	0	NM_017504		1:248403055
NLRP12	91662	broad.mit.edu	37	19	54314230	54314230	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54314230T>C	ENST00000324134.6	-	3	851	c.683A>G	c.(682-684)cAc>cGc	p.H228R	NLRP12_ENST00000391773.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391772.1_Missense_Mutation_p.H228R|NLRP12_ENST00000354278.3_Missense_Mutation_p.H228R|NLRP12_ENST00000351894.4_Missense_Mutation_p.H228R|NLRP12_ENST00000345770.5_Missense_Mutation_p.H228R|NLRP12_ENST00000535162.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391775.3_Missense_Mutation_p.H228R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	228	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATCACCTTGTGTGCCAGCAT	0.577																																						ENST00000324134.6		NA																	0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(682-684)cAc>cGc		NLR family, pyrin domain containing 12							91.0	69.0	77.0					19																	54314230		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314230T>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.683A>G	19.37:g.54314230T>C	ENSP00000319377:p.His228Arg	True	False		Somatic	0				NLRP12_ENST00000345770.5_Missense_Mutation_p.H228R|NLRP12_ENST00000391773.1_Missense_Mutation_p.H228R|NLRP12_ENST00000354278.3_Missense_Mutation_p.H228R|NLRP12_ENST00000535162.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391772.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391775.3_Missense_Mutation_p.H228R|NLRP12_ENST00000351894.4_Missense_Mutation_p.H228R	p.H228R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	WXS	Illumina HiSeq	Phase_I	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	851	-	Ovarian(34;0.19)		228			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.683A>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	0.687	-0.795867	0.02862	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.47	1.18	0.20946	NACHT nucleoside triphosphatase (1);	0.313100	0.23263	N	0.050104	T	0.42359	0.1199	N	0.01493	-0.835	0.80722	D	1	B;B;B;B	0.26935	0.134;0.064;0.134;0.164	B;B;B;B	0.26517	0.031;0.031;0.031;0.07	T	0.45101	-0.9284	10	0.02654	T	1	.	7.0128	0.24871	0.0:0.2972:0.0:0.7028	.	228;228;228;228	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	R	228	ENSP00000319377:H228R;ENSP00000438030:H228R;ENSP00000340473:H228R;ENSP00000346231:H228R;ENSP00000375655:H228R;ENSP00000375653:H228R;ENSP00000375652:H228R	ENSP00000319377:H228R	H	-	2	0	NLRP12	59006042	0.996000	0.38824	0.973000	0.42090	0.891000	0.51852	0.716000	0.25836	0.224000	0.20940	0.254000	0.18369	CAC		0.577	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	0	NM_144687		19:54314230
SNHG14	104472715	broad.mit.edu	37	15	25453246	25453246	+	RNA	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:25453246C>T	ENST00000424208.1	+	0	2384				SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGATGAGAACCTTATATTTT	0.532																																						ENST00000424208.1		NA																	0					NA															329.0	339.0	336.0					15																	25453246		876	1991	2867			0							g.chr15:25453246C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25453246C>T		False	False		Somatic	0				SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000450809.1_RNA		NR_003305.1		WXS	Illumina HiSeq	Phase_I					0	2384	+			NA						RNA	SNP	ENST00000424208.1	37																																																																																						0.532	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2	0			15:25453246
MTG2	26164	broad.mit.edu	37	20	60772965	60772965	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:60772965G>A	ENST00000370823.3	+	4	428	c.410G>A	c.(409-411)gGa>gAa	p.G137E	MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	137	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGTTTCAGTGGAGAAGATGGA	0.562																																						ENST00000370823.3		NA																	0					NA						c.(409-411)gGa>gAa		mitochondrial ribosome-associated GTPase 2							141.0	123.0	129.0					20																	60772965		2203	4300	6503	SO:0001583	missense	26164							g.chr20:60772965G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.410G>A	20.37:g.60772965G>A	ENSP00000359859:p.Gly137Glu	False	False		Somatic	0				MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR	p.G137E	NM_015666.3	NP_056481.1	WXS	Illumina HiSeq	Phase_I					4	428	+			NA					A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.410G>A	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344696	0.61073	.	.	ENSG00000101181	ENST00000370823;ENST00000448254	T;T	0.61510	0.1;0.1	5.51	5.51	0.81932	GTP1/OBG subdomain (3);	0.000000	0.85682	D	0.000000	D	0.86657	0.5985	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92167	0.5740	10	0.87932	D	0	-20.722	17.2039	0.86913	0.0:0.0:1.0:0.0	.	137;137	Q5JXJ0;Q9H4K7	.;GTPB5_HUMAN	E	137	ENSP00000359859:G137E;ENSP00000414693:G137E	ENSP00000359859:G137E	G	+	2	0	GTPBP5	60206360	1.000000	0.71417	0.130000	0.21974	0.055000	0.15305	7.735000	0.84939	2.592000	0.87571	0.650000	0.86243	GGA		0.562	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	0	NM_015666		20:60772965
ASTN2	23245	broad.mit.edu	37	9	119976795	119976795	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:119976795T>A	ENST00000313400.4	-	3	957	c.857A>T	c.(856-858)gAg>gTg	p.E286V	ASTN2_ENST00000361209.2_Missense_Mutation_p.E286V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E286V			O75129	ASTN2_HUMAN	astrotactin 2	286					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GATGGGAGTCTCCCGGATGGG	0.617																																						ENST00000313400.4		NA																	0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(856-858)gAg>gTg		astrotactin 2							83.0	78.0	80.0					9																	119976795		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976795T>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.857A>T	9.37:g.119976795T>A	ENSP00000314038:p.Glu286Val	True	False		Somatic	0				ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E286V|ASTN2_ENST00000361209.2_Missense_Mutation_p.E286V	p.E286V			WXS	Illumina HiSeq	Phase_I	O75129	ASTN2_HUMAN			3	957	-			286					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.857A>T		.	.	.	.	.	.	.	.	.	.	T	17.28	3.349878	0.61183	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.22743	2.09;2.08;2.13;1.94	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	T	0.31544	0.0800	N	0.24115	0.695	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.83275	0.996;0.991;0.96	T	0.05616	-1.0874	9	.	.	.	-22.8697	14.6696	0.68934	0.0:0.0:0.0:1.0	.	286;286;286	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	V	286;286;13;286	ENSP00000314038:E286V;ENSP00000363108:E286V;ENSP00000363098:E13V;ENSP00000354504:E286V	.	E	-	2	0	ASTN2	119016616	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.662000	0.83803	1.935000	0.56089	0.533000	0.62120	GAG		0.617	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		0	NM_014010		9:119976795
ZSCAN10	84891	broad.mit.edu	37	16	3140385	3140385	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:3140385C>T	ENST00000252463.2	-	5	972	c.885G>A	c.(883-885)gcG>gcA	p.A295A	ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	295					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCCGCAGTCCGCGCAGATGA	0.632																																						ENST00000252463.2		NA																	0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(883-885)gcG>gcA		zinc finger and SCAN domain containing 10							50.0	52.0	52.0					16																	3140385		2165	4244	6409	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140385C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.885G>A	16.37:g.3140385C>T		False	False		Somatic	0				ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR	p.A295A	NM_032805.1	NP_116194.1	WXS	Illumina HiSeq	Phase_I	Q96SZ4	ZSC10_HUMAN			5	972	-			295					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.885G>A	CCDS10493.1																																																																																				0.632	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	0	NM_032805		16:3140385
FUT6	2528	broad.mit.edu	37	19	5831521	5831521	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:5831521C>T	ENST00000318336.4	-	3	2252	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	353					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCCGCTATGCCGCGTGTCTG	0.632																																						ENST00000318336.4		NA																	0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(1057-1059)gGc>gAc		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							70.0	80.0	77.0					19																	5831521		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831521C>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.1058G>A	19.37:g.5831521C>T	ENSP00000313398:p.Gly353Asp	False	False		Somatic	0				FUT6_ENST00000524754.1_Missense_Mutation_p.G353D|FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D	p.G353D	NM_000150.2	NP_000141.1	WXS	Illumina HiSeq	Phase_I	P51993	FUT6_HUMAN			3	2252	-			353					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.1058G>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544153	0.27563	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	3.23	3.23	0.37069	.	.	.	.	.	T	0.04634	0.0126	N	0.00182	-1.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	9	0.06236	T	0.91	.	12.6777	0.56903	0.0:1.0:0.0:0.0	.	353	P51993	FUT6_HUMAN	D	353	ENSP00000431708:G353D;ENSP00000432954:G353D;ENSP00000313398:G353D;ENSP00000286955:G353D	ENSP00000286955:G353D	G	-	2	0	FUT6	5782521	0.004000	0.15560	0.326000	0.25389	0.012000	0.07955	0.883000	0.28200	1.743000	0.51761	0.436000	0.28706	GGC		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	0	NM_000150		19:5831521
ABCG8	64241	broad.mit.edu	37	2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T	rs202028007		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGCCGCCGCGGCCCTGCTC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16315	0.001		0.0	False		,,,				2504	0.0					ENST00000272286.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1648-1650)gCg>gTg		ATP-binding cassette, sub-family G (WHITE), member 8							67.0	66.0	66.0					2																	44102445		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44102445C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1649C>T	2.37:g.44102445C>T	ENSP00000272286:p.Ala550Val	False	False		Somatic	0					p.A550V	NM_022437.2	NP_071882.1	WXS	Illumina HiSeq	Phase_I	Q9H221	ABCG8_HUMAN			11	1739	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	550			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1649C>T	CCDS1815.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.22	2.768002	0.49680	.	.	ENSG00000143921	ENST00000272286	T	0.74947	-0.89	4.73	3.85	0.44370	ABC-2 type transporter (1);	0.167185	0.52532	D	0.000066	T	0.81650	0.4867	M	0.65975	2.015	0.22968	N	0.998499	D;D	0.71674	0.998;0.998	P;P	0.61658	0.827;0.892	T	0.73528	-0.3954	10	0.42905	T	0.14	.	12.9331	0.58299	0.0:0.9209:0.0:0.0791	.	549;550	Q9H221-2;Q9H221	.;ABCG8_HUMAN	V	550	ENSP00000272286:A550V	ENSP00000272286:A550V	A	+	2	0	ABCG8	43955949	0.954000	0.32549	0.001000	0.08648	0.001000	0.01503	5.484000	0.66844	0.984000	0.38629	0.462000	0.41574	GCG		0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	0	NM_022437		2:44102445
TM9SF2	9375	broad.mit.edu	37	13	100153955	100153955	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:100153955G>A	ENST00000376387.4	+	1	285	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	LINC00449_ENST00000366259.2_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	32					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCCCGCGCCGGAGCGGCGCT	0.667																																						ENST00000376387.4		NA																	0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(94-96)cGg>cAg		transmembrane 9 superfamily member 2							39.0	46.0	44.0					13																	100153955		2200	4298	6498	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100153955G>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.95G>A	13.37:g.100153955G>A	ENSP00000365567:p.Arg32Gln	False	False		Somatic	0					p.R32Q	NM_004800.1	NP_004791.1	WXS	Illumina HiSeq	Phase_I	Q99805	TM9S2_HUMAN			1	285	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		32					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.95G>A	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177171	0.38413	.	.	ENSG00000125304	ENST00000376387	T	0.41400	1.0	4.66	-3.93	0.04143	.	0.587551	0.19001	N	0.125345	T	0.21550	0.0519	N	0.14661	0.345	0.09310	N	1	B;P	0.35908	0.052;0.527	B;B	0.21360	0.004;0.034	T	0.01460	-1.1349	10	0.23302	T	0.38	1.5671	21.9879	0.99964	0.0:0.8332:0.1668:0.0	.	32;32	E9PHW5;Q99805	.;TM9S2_HUMAN	Q	32	ENSP00000365567:R32Q	ENSP00000365567:R32Q	R	+	2	0	TM9SF2	98951956	0.018000	0.18449	0.552000	0.28243	0.996000	0.88848	-0.549000	0.06041	-0.599000	0.05798	0.655000	0.94253	CGG		0.667	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3	0			13:100153955
MIB1	57534	broad.mit.edu	37	18	19353645	19353645	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:19353645G>A	ENST00000261537.6	+	4	856	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	198	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGTCCTCTGGGATAATGGTGC	0.428																																						ENST00000261537.6		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(592-594)Gat>Aat		mindbomb E3 ubiquitin protein ligase 1							101.0	86.0	91.0					18																	19353645		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19353645G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.592G>A	18.37:g.19353645G>A	ENSP00000261537:p.Asp198Asn	True	False		Somatic	0				MIB1_ENST00000578646.1_3'UTR	p.D198N	NM_020774.2	NP_065825.1	WXS	Illumina HiSeq	Phase_I	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		4	856	+			198			MIB/HERC2 2.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.592G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795298	0.90453	.	.	ENSG00000101752	ENST00000261537	T	0.39406	1.08	5.36	5.36	0.76844	Mib-herc2 (2);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.63444	-0.6636	10	0.30078	T	0.28	-20.2918	19.0873	0.93209	0.0:0.0:1.0:0.0	.	198	Q86YT6	MIB1_HUMAN	N	198	ENSP00000261537:D198N	ENSP00000261537:D198N	D	+	1	0	MIB1	17607643	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.508000	0.84585	0.655000	0.94253	GAT		0.428	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	0	NM_020774		18:19353645
SDHAP1	255812	broad.mit.edu	37	3	195711436	195711436	+	RNA	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:195711436C>G	ENST00000427841.1	-	0	511					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AACAGACCACCAGAGCACCCA	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1		NA																	0					NA																																														0							g.chr3:195711436C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711436C>G		False	False		Somatic	0						NR_003264.2		WXS	Illumina HiSeq	Phase_I					0	511	-			NA						RNA	SNP	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1	0			3:195711436
GLI2	2736	broad.mit.edu	37	2	121742187	121742187	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:121742187G>A	ENST00000452319.1	+	12	1884	c.1824G>A	c.(1822-1824)ccG>ccA	p.P608P	GLI2_ENST00000361492.4_Silent_p.P608P|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.P280P					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCGCACACCGCTGCTCAAAG	0.652																																						ENST00000452319.1		NA																	0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1822-1824)ccG>ccA		GLI family zinc finger 2							77.0	71.0	73.0					2																	121742187		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121742187G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1824G>A	2.37:g.121742187G>A		False	False		Somatic	0				GLI2_ENST00000314490.11_Silent_p.P280P|GLI2_ENST00000361492.4_Silent_p.P608P|GLI2_ENST00000435313.2_3'UTR	p.P608P			WXS	Illumina HiSeq	Phase_I	P10070	GLI2_HUMAN			12	1884	+	Renal(3;0.0496)	Prostate(154;0.0623)	608						Silent	SNP	ENST00000452319.1	37	c.1824G>A	CCDS33283.1																																																																																				0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	0	NM_005270		2:121742187
NELL1	4745	broad.mit.edu	37	11	21556023	21556023	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:21556023C>T	ENST00000357134.5	+	16	1901	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	NELL1_ENST00000325319.5_Silent_p.D526D|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000298925.5_Silent_p.D611D|NELL1_ENST00000532434.1_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	583	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTTTCCATGACGATGGGACCT	0.527																																						ENST00000298925.5		NA																	0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1831-1833)gaC>gaT		NEL-like 1 (chicken)							183.0	149.0	161.0					11																	21556023		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21556023C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1749C>T	11.37:g.21556023C>T		False	False		Somatic	0				NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Silent_p.D583D|NELL1_ENST00000325319.5_Silent_p.D526D	p.D611D			WXS	Illumina HiSeq	Phase_I	Q92832	NELL1_HUMAN			17	1986	+			583			EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.1833C>T	CCDS7855.1																																																																																				0.527	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	0	NM_006157		11:21556023
EML1	2009	broad.mit.edu	37	14	100405553	100405553	+	Silent	SNP	G	G	A	rs553895497		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:100405553G>A	ENST00000262233.6	+	21	2350	c.2211G>A	c.(2209-2211)tcG>tcA	p.S737S	EML1_ENST00000334192.4_Silent_p.S756S|EML1_ENST00000327921.9_Silent_p.S725S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	737	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)			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)				CAGAAGGCTCGGACGGAACCG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17878	0.0		0.0	False		,,,				2504	0.0					ENST00000262233.6		NA																	0				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.(2209-2211)tcG>tcA		echinoderm microtubule associated protein like 1							110.0	98.0	102.0					14																	100405553		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405553G>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.2211G>A	14.37:g.100405553G>A		True	False		Somatic	0				EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S	p.S737S	NM_004434.2	NP_004425.2	WXS	Illumina HiSeq	Phase_I	O00423	EMAL1_HUMAN			21	2350	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	737					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.2211G>A	CCDS32155.1																																																																																				0.582	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	0	NM_001008707		14:100405553
PRR5L	79899	broad.mit.edu	37	11	36472814	36472814	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36472814T>A	ENST00000378867.3	+	9	996	c.641T>A	c.(640-642)gTg>gAg	p.V214E	PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	214					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGCTGGTGAAGCAAGTG	0.527																																						ENST00000378867.3		NA																	0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(640-642)gTg>gAg		proline rich 5 like							188.0	158.0	168.0					11																	36472814		2202	4298	6500	SO:0001583	missense	79899							g.chr11:36472814T>A		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.641T>A	11.37:g.36472814T>A	ENSP00000368144:p.Val214Glu	False	False		Somatic	0				PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000389693.3_3'UTR	p.V214E	NM_024841.4	NP_079117.3	WXS	Illumina HiSeq	Phase_I	Q6MZQ0	PRR5L_HUMAN			9	996	+			214					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.641T>A	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144704	0.77888	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.35973	1.41;1.28;1.41	5.16	4.02	0.46733	.	0.070757	0.56097	D	0.000027	T	0.51652	0.1687	M	0.72894	2.215	0.53688	D	0.999979	D;D	0.71674	0.99;0.998	P;P	0.58266	0.836;0.759	T	0.54166	-0.8334	10	0.87932	D	0	-8.0315	10.571	0.45200	0.0:0.0773:0.0:0.9227	.	86;214	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	E	214;141;214	ENSP00000435050:V214E;ENSP00000310103:V141E;ENSP00000368144:V214E	ENSP00000310103:V141E	V	+	2	0	PRR5L	36429390	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.302000	0.59092	0.810000	0.34279	0.260000	0.18958	GTG		0.527	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	0	NM_024841		11:36472814
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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>gTt		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>A	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>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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
MRPL57	78988	broad.mit.edu	37	13	21751133	21751133	+	Silent	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:21751133C>T	ENST00000309594.4	+	2	156	c.78C>T	c.(76-78)ttC>ttT	p.F26F	SKA3_ENST00000314759.5_5'Flank|SKA3_ENST00000400018.3_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		26					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGCCGCGGTTCGTGTCGTTGC	0.662																																						ENST00000309594.4		NA																	0				kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5						c.(76-78)ttC>ttT		mitochondrial ribosomal protein 63							25.0	27.0	26.0					13																	21751133		2173	4265	6438	SO:0001819	synonymous_variant	78988							g.chr13:21751133C>T																												ENST00000309594.4:c.78C>T	13.37:g.21751133C>T		False	False		Somatic	0					p.F26F	NM_024026.4	NP_076931.1	WXS	Illumina HiSeq	Phase_I	Q9BQC6	RT63_HUMAN		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)	2	156	+		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	26					A2A332	Silent	SNP	ENST00000309594.4	37	c.78C>T	CCDS9296.1																																																																																				0.662	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2	0			13:21751133
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3		NA																	6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	True	False		Somatic	0				RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	WXS	Illumina HiSeq	Phase_I	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	0	XM_929931		2:107049681
TTN	7273	broad.mit.edu	37	2	179397543	179397543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:179397543C>T	ENST00000591111.1	-	308	99100	c.98876G>A	c.(98875-98877)tGg>tAg	p.W32959*	TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W34600*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32959					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTGTTCCCATCTTGAAAG	0.428																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(103798-103800)tGg>tAg		titin							108.0	102.0	104.0					2																	179397543		1990	4160	6150	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397543C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98876G>A	2.37:g.179397543C>T	ENSP00000465570:p.Trp32959*	True	False		Somatic	0				TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32959*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA	p.W34600*	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	104023	-			32959					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.103799G>A		.	.	.	.	.	.	.	.	.	.	C	73	115.725762	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6737	0.95921	0.0:1.0:0.0:0.0	.	.	.	.	X	32032;25535;25727;25660;25532	.	ENSP00000340554:W25727X	W	-	2	0	TTN	179105789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.757000	0.94681	0.462000	0.41574	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179397543
PDE3A	5139	broad.mit.edu	37	12	20787935	20787935	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:20787935C>A	ENST00000359062.3	+	8	1986	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	649					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGAGAGAGCCTCTGAGGAAA	0.443																																						ENST00000359062.3		NA																	0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1945-1947)cCt>cAt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						140.0	119.0	126.0					12																	20787935		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20787935C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1946C>A	12.37:g.20787935C>A	ENSP00000351957:p.Pro649His	False	False		Somatic	0				PDE3A_ENST00000544307.1_3'UTR	p.P649H	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	WXS	Illumina HiSeq	Phase_I	Q14432	PDE3A_HUMAN			8	1986	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	649					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1946C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	4.426	0.078860	0.08533	.	.	ENSG00000172572	ENST00000359062	T	0.61859	0.07	5.64	3.77	0.43336	.	7739.210000	0.00166	N	0.000000	T	0.51227	0.1662	N	0.22421	0.69	0.09310	N	1	P	0.34837	0.472	B	0.33295	0.161	T	0.53114	-0.8484	10	0.52906	T	0.07	.	14.0504	0.64732	0.454:0.546:0.0:0.0	.	649	Q14432	PDE3A_HUMAN	H	649	ENSP00000351957:P649H	ENSP00000351957:P649H	P	+	2	0	PDE3A	20679202	0.242000	0.23868	0.016000	0.15963	0.040000	0.13550	0.863000	0.27913	0.699000	0.31761	-0.175000	0.13238	CCT		0.443	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	0			12:20787935
SLC12A2	6558	broad.mit.edu	37	5	127487026	127487026	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:127487026C>G	ENST00000262461.2	+	14	2390	c.2201C>G	c.(2200-2202)gCt>gGt	p.A734G	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	734					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AACTGGTGGGCTGCATTGCTA	0.378																																						ENST00000262461.2		NA																	0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2200-2202)gCt>gGt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						210.0	200.0	203.0					5																	127487026		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127487026C>G		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2201C>G	5.37:g.127487026C>G	ENSP00000262461:p.Ala734Gly	True	False		Somatic	0				SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G	p.A734G	NM_001046.2	NP_001037.1	WXS	Illumina HiSeq	Phase_I	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	14	2390	+		all_cancers(142;0.0972)|Prostate(80;0.151)	734					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2201C>G	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168369	0.78339	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98968	-5.28;-5.28	4.7	4.7	0.59300	Amino acid permease domain (1);	0.124211	0.53938	D	0.000048	D	0.99017	0.9664	M	0.90252	3.1	0.80722	D	1	D;D	0.56746	0.971;0.977	P;P	0.54544	0.641;0.755	D	0.99734	1.1013	10	0.87932	D	0	.	18.2088	0.89864	0.0:1.0:0.0:0.0	.	734;734	P55011-3;P55011	.;S12A2_HUMAN	G	734	ENSP00000262461:A734G;ENSP00000340878:A734G	ENSP00000262461:A734G	A	+	2	0	SLC12A2	127514925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.626000	0.88956	0.655000	0.94253	GCT		0.378	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	0	NM_001046		5:127487026
CENPF	1063	broad.mit.edu	37	1	214815002	214815002	+	Silent	SNP	G	G	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:214815002G>A	ENST00000366955.3	+	12	3489	c.3321G>A	c.(3319-3321)caG>caA	p.Q1107Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACAGTGCAGCAAGCTCTGA	0.373																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3		NA																	0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(3319-3321)caG>caA		centromere protein F, 350/400kDa							80.0	82.0	81.0					1																	214815002		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815002G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3321G>A	1.37:g.214815002G>A		False	False		Somatic	0					p.Q1107Q	NM_016343.3	NP_057427.3	WXS	Illumina HiSeq	Phase_I	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3489	+			1107					Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.3321G>A	CCDS31023.1																																																																																				0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	0	NM_016343		1:214815002
TMEM117	84216	broad.mit.edu	37	12	44782272	44782272	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:44782272G>T	ENST00000266534.3	+	8	1489	c.1362G>T	c.(1360-1362)caG>caT	p.Q454H	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.Q350H|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	454						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAAACACCCAGGCTTCAGTAG	0.443																																						ENST00000266534.3		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1360-1362)caG>caT		transmembrane protein 117							141.0	138.0	139.0					12																	44782272		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782272G>T	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1362G>T	12.37:g.44782272G>T	ENSP00000266534:p.Gln454His	False	False		Somatic	0				TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.Q350H	p.Q454H	NM_032256.1	NP_115632.1	WXS	Illumina HiSeq	Phase_I	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1489	+	Lung SC(27;0.192)		454						Missense_Mutation	SNP	ENST00000266534.3	37	c.1362G>T	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087281	0.36855	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.46819	0.86	5.73	2.5	0.30297	.	0.052666	0.85682	D	0.000000	T	0.38081	0.1027	L	0.41236	1.265	0.39169	D	0.962561	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.002	T	0.33007	-0.9885	10	0.48119	T	0.1	-10.3341	12.0236	0.53358	0.2193:0.0:0.7807:0.0	.	350;454	F5H3Q2;Q9H0C3	.;TM117_HUMAN	H	454;350;202	ENSP00000266534:Q454H	ENSP00000266534:Q454H	Q	+	3	2	TMEM117	43068539	1.000000	0.71417	0.994000	0.49952	0.887000	0.51463	1.298000	0.33412	0.774000	0.33427	-0.142000	0.14014	CAG		0.443	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	0	NM_032256		12:44782272
PID1	55022	broad.mit.edu	37	2	229890591	229890591	+	Silent	SNP	G	G	A	rs139231184	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:229890591G>A	ENST00000354069.6	-	3	540	c.510C>T	c.(508-510)acC>acT	p.T170T	PID1_ENST00000392055.3_Silent_p.T137T|PID1_ENST00000392054.3_Silent_p.T168T|PID1_ENST00000409462.1_Silent_p.T88T|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	170	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTGGTCGGCGGTGCAGTAGG	0.582																																						ENST00000392054.3		NA																	0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(502-504)acC>acT		phosphotyrosine interaction domain containing 1		G	,	1,4405	2.1+/-5.4	0,1,2202	143.0	130.0	134.0		411,504	-11.7	0.1	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PID1	NM_001100818.1,NM_017933.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	137/218,168/249	229890591	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55022					cytoplasm		g.chr2:229890591G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.510C>T	2.37:g.229890591G>A		False	False		Somatic	0				PID1_ENST00000354069.6_Silent_p.T170T|PID1_ENST00000409462.1_Silent_p.T88T|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.T137T	p.T168T	NM_017933.4	NP_060403.3	WXS	Illumina HiSeq	Phase_I	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	843	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	170			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37	c.504C>T																																																																																					0.582	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	0	NM_017933		2:229890591
OR4C13	283092	broad.mit.edu	37	11	49974001	49974001	+	Silent	SNP	G	G	A	rs148894043	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49974001G>A	ENST00000555099.1	+	1	59	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTGACAGAGTTTATTCTAT	0.299																																						ENST00000555099.1		NA																	0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(25-27)gaG>gaA		olfactory receptor, family 4, subfamily C, member 13							92.0	93.0	93.0					11																	49974001		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974001G>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.27G>A	11.37:g.49974001G>A		True	False		Somatic	0					p.E9E	NM_001001955.2	NP_001001955.2	WXS	Illumina HiSeq	Phase_I	Q8NGP0	OR4CD_HUMAN			1	59	+			9					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.27G>A	CCDS31495.1																																																																																				0.299	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	0	NM_001001955		11:49974001
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1		NA																	0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser	False	False		Somatic	0				POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	WXS	Illumina HiSeq	Phase_I	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1	0			7:72398976
NECAB1	64168	broad.mit.edu	37	8	91929840	91929840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:91929840C>T	ENST00000417640.2	+	6	815	c.478C>T	c.(478-480)Caa>Taa	p.Q160*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	160						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TACTGAGGAGCAAACCCGTCA	0.383																																						ENST00000417640.2		NA																	0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12						c.(478-480)Caa>Taa		N-terminal EF-hand calcium binding protein 1							114.0	112.0	113.0					8																	91929840		1860	4099	5959	SO:0001587	stop_gained	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91929840C>T	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.478C>T	8.37:g.91929840C>T	ENSP00000387380:p.Gln160*	True	False		Somatic	0					p.Q160*	NM_022351.4	NP_071746.1	WXS	Illumina HiSeq	Phase_I	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		6	815	+			160					Q6NUS7|Q96AZ7|Q9HBW8	Nonsense_Mutation	SNP	ENST00000417640.2	37	c.478C>T	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	C	39	7.736388	0.98462	.	.	ENSG00000123119	ENST00000417640	.	.	.	5.16	5.16	0.70880	.	0.110120	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.9093	18.6331	0.91368	0.0:1.0:0.0:0.0	.	.	.	.	X	160	.	ENSP00000387380:Q160X	Q	+	1	0	NECAB1	91999016	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.953000	0.75995	2.386000	0.81285	0.467000	0.42956	CAA		0.383	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	0	NM_022351		8:91929840
PLXNB1	5364	broad.mit.edu	37	3	48456620	48456620	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48456620C>T	ENST00000358536.4	-	20	4200	c.3931G>A	c.(3931-3933)Gca>Aca	p.A1311T	PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1128T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A1311T|PLXNB1_ENST00000465117.1_Splice_Site|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1128T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1311	IPT/TIG 3.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGAACATGCCGTCTCCGGG	0.647																																						ENST00000358536.4		NA																	0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3931-3933)Gca>Aca		plexin B1							62.0	62.0	62.0					3																	48456620		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48456620C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3931G>A	3.37:g.48456620C>T	ENSP00000351338:p.Ala1311Thr	False	False		Somatic	0				PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_Splice_Site|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1128T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A1311T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1128T	p.A1311T	NM_002673.4	NP_002664.2	WXS	Illumina HiSeq	Phase_I	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	20	4200	-			1311			IPT/TIG 3.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3931G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478634	0.26511	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.14	3.31	0.37934	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);	1.568640	0.03917	N	0.282842	T	0.60366	0.2263	N	0.08118	0	0.19575	N	0.999964	B;B	0.23185	0.081;0.005	B;B	0.26693	0.072;0.022	T	0.42085	-0.9472	10	0.12103	T	0.63	.	14.3733	0.66857	0.0:0.693:0.307:0.0	.	1311;1128	O43157;O43157-2	PLXB1_HUMAN;.	T	1311;1128;1311;1128	ENSP00000296440:A1311T;ENSP00000351242:A1128T;ENSP00000351338:A1311T;ENSP00000414199:A1128T	ENSP00000296440:A1311T	A	-	1	0	PLXNB1	48431624	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.403000	0.34612	0.515000	0.28320	0.655000	0.94253	GCA		0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	0	NM_002673		3:48456620
UBA7	7318	broad.mit.edu	37	3	49842859	49842859	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49842859A>T	ENST00000333486.3	-	24	3079	c.2921T>A	c.(2920-2922)cTg>cAg	p.L974Q	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	974					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGCTGAACCAGTTCTGTCAC	0.617																																						ENST00000333486.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2920-2922)cTg>cAg		ubiquitin-like modifier activating enzyme 7							93.0	83.0	86.0					3																	49842859		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49842859A>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2921T>A	3.37:g.49842859A>T	ENSP00000333266:p.Leu974Gln	False	False		Somatic	0					p.L974Q	NM_003335.2	NP_003326.2	WXS	Illumina HiSeq	Phase_I	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	24	3079	-			974					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2921T>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255794	0.59321	.	.	ENSG00000182179	ENST00000333486	T	0.57752	0.38	5.36	5.36	0.76844	Ubiquitin-activating enzyme e1, C-terminal (1);	0.261023	0.25634	N	0.029323	T	0.72358	0.3450	M	0.80183	2.485	0.45150	D	0.998165	D	0.89917	1.0	D	0.83275	0.996	T	0.76377	-0.2981	10	0.87932	D	0	-1.9099	11.7536	0.51862	1.0:0.0:0.0:0.0	.	974	P41226	UBA7_HUMAN	Q	974	ENSP00000333266:L974Q	ENSP00000333266:L974Q	L	-	2	0	UBA7	49817863	0.105000	0.21958	0.392000	0.26245	0.872000	0.50106	2.681000	0.46926	2.026000	0.59711	0.460000	0.39030	CTG		0.617	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	0	NM_003335		3:49842859
MCF2L2	23101	broad.mit.edu	37	3	183017842	183017842	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:183017842T>A	ENST00000328913.3	-	11	1553	c.1256A>T	c.(1255-1257)aAa>aTa	p.K419I	MCF2L2_ENST00000473233.1_Missense_Mutation_p.K419I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.K419I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	419							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATGTCCCATTTTTTCTTGTT	0.458																																						ENST00000328913.3		NA																	0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1255-1257)aAa>aTa		MCF.2 cell line derived transforming sequence-like 2							139.0	130.0	133.0					3																	183017842		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183017842T>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1256A>T	3.37:g.183017842T>A	ENSP00000328118:p.Lys419Ile	True	False		Somatic	0				MCF2L2_ENST00000414362.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.K419I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.K419I	p.K419I	NM_015078.2	NP_055893	WXS	Illumina HiSeq	Phase_I	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		11	1553	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		419					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1256A>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726819	0.48833	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.59	0.741	0.18336	.	0.117224	0.56097	D	0.000033	T	0.47116	0.1428	M	0.82630	2.6	0.32472	N	0.542635	P;D	0.63880	0.904;0.993	P;P	0.57371	0.465;0.819	T	0.58561	-0.7615	10	0.56958	D	0.05	.	8.7236	0.34456	0.0:0.2264:0.0:0.7736	.	419;419	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	I	419;419;419;19;419	ENSP00000328118:K419I;ENSP00000420070:K419I;ENSP00000388190:K419I;ENSP00000414131:K419I	ENSP00000328118:K419I	K	-	2	0	MCF2L2	184500536	0.996000	0.38824	0.541000	0.28102	0.201000	0.24016	2.616000	0.46376	-0.021000	0.14009	-0.290000	0.09829	AAA		0.458	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	0	NM_015078		3:183017842
FCN3	8547	broad.mit.edu	37	1	27697110	27697110	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27697110C>T	ENST00000270879.4	-	7	640	c.635G>A	c.(634-636)gGc>gAc	p.G212D	FCN3_ENST00000354982.2_Missense_Mutation_p.G201D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	212	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGAACTTGCCCAGTGCCAG	0.582																																						ENST00000270879.4		NA																	0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(634-636)gGc>gAc		ficolin (collagen/fibrinogen domain containing) 3							107.0	105.0	106.0					1																	27697110		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697110C>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.635G>A	1.37:g.27697110C>T	ENSP00000270879:p.Gly212Asp	True	False		Somatic	0				FCN3_ENST00000354982.2_Missense_Mutation_p.G201D	p.G212D	NM_003665.2	NP_003656.2	WXS	Illumina HiSeq	Phase_I	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	640	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	212			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.635G>A	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159905	0.78226	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76186	-1.0;-1.0	4.84	2.93	0.34026	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.324971	0.25288	N	0.031759	T	0.81432	0.4821	L	0.56769	1.78	0.25196	N	0.990097	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.70916	-0.4742	10	0.59425	D	0.04	.	10.1394	0.42725	0.0:0.8212:0.0:0.1788	.	201;212	Q6UXM4;O75636	.;FCN3_HUMAN	D	212;201;90	ENSP00000270879:G212D;ENSP00000347077:G201D	ENSP00000270879:G212D	G	-	2	0	FCN3	27569697	0.046000	0.20272	0.975000	0.42487	0.386000	0.30323	0.596000	0.24044	1.198000	0.43158	0.558000	0.71614	GGC		0.582	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1	0			1:27697110
OSBPL5	114879	broad.mit.edu	37	11	3129166	3129166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:3129166C>T	ENST00000263650.7	-	8	860	c.701G>A	c.(700-702)tGg>tAg	p.W234*	OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	234	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCGTCCAGCCAGCAGCGACC	0.697																																						ENST00000263650.7		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(700-702)tGg>tAg		oxysterol binding protein-like 5							28.0	34.0	32.0					11																	3129166		2201	4294	6495	SO:0001587	stop_gained	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3129166C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.701G>A	11.37:g.3129166C>T	ENSP00000263650:p.Trp234*	True	False		Somatic	0				OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*	p.W234*	NM_020896.3	NP_065947.1	WXS	Illumina HiSeq	Phase_I	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	8	860	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	234			PH.		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Nonsense_Mutation	SNP	ENST00000263650.7	37	c.701G>A	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989428	0.74589	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	.	.	.	4.2	4.2	0.49525	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0922	16.7016	0.85350	0.0:1.0:0.0:0.0	.	.	.	.	X	234;166;145;166	.	ENSP00000263650:W234X	W	-	2	0	OSBPL5	3085742	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.116000	0.77119	2.156000	0.67533	0.455000	0.32223	TGG		0.697	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2	0			11:3129166
DRC7	84229	broad.mit.edu	37	16	57764951	57764951	+	Missense_Mutation	SNP	C	C	T	rs568917398		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57764951C>T	ENST00000360716.3	+	18	2721	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	CCDC135_ENST00000394337.4_Missense_Mutation_p.R834C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R769C			Q8IY82	CC135_HUMAN		834					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCCATGTTCCGCATCCGCAT	0.597													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21079	0.0		0.0	False		,,,				2504	0.0					ENST00000360716.3		NA																	0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2500-2502)Cgc>Tgc		coiled-coil domain containing 135							102.0	90.0	94.0					16																	57764951		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57764951C>T																												ENST00000360716.3:c.2500C>T	16.37:g.57764951C>T	ENSP00000353942:p.Arg834Cys	True	False		Somatic	0				CCDC135_ENST00000394337.4_Missense_Mutation_p.R834C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R769C	p.R834C			WXS	Illumina HiSeq	Phase_I	Q8IY82	CC135_HUMAN			18	2721	+			834					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2500C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	12.08	1.831476	0.32329	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.55413	0.52;0.52;0.52	5.04	4.09	0.47781	.	0.274751	0.35646	N	0.003074	T	0.73613	0.3609	M	0.85197	2.74	0.58432	D	0.999999	B;D	0.89917	0.056;1.0	B;D	0.91635	0.026;0.999	T	0.77892	-0.2418	10	0.66056	D	0.02	-22.0214	12.618	0.56588	0.0:0.9179:0.0:0.0821	.	769;834	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	834;769;834	ENSP00000377869:R834C;ENSP00000338938:R769C;ENSP00000353942:R834C	ENSP00000338938:R769C	R	+	1	0	CCDC135	56322452	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	2.268000	0.43338	1.275000	0.44379	-0.156000	0.13503	CGC		0.597	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2	0			16:57764951
LOC101927209	101927209	broad.mit.edu	37	1	142713239	142713239	+	lincRNA	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:142713239T>A	ENST00000610091.1	-	0	2419																											TCTTCTGCATTTTCATACATC	0.383																																						ENST00000610091.1		NA																	0					NA																																														0							g.chr1:142713239T>A																													1.37:g.142713239T>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	2419	-			NA						RNA	SNP	ENST00000610091.1	37																																																																																						0.383	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2	0			1:142713239
PTPRN2	5799	broad.mit.edu	37	7	157370783	157370783	+	Missense_Mutation	SNP	G	G	A	rs567734269	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:157370783G>A	ENST00000389418.4	-	18	2555	c.2546C>T	c.(2545-2547)gCg>gTg	p.A849V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A832V|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A820V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A811V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A872V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	849	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGTTCTCCGCGAGGGGTGT	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		16184	0.002		0.0	False		,,,				2504	0.0					ENST00000389413.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(2458-2460)gCg>gTg		protein tyrosine phosphatase, receptor type, N polypeptide 2							85.0	70.0	75.0					7																	157370783		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157370783G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2546C>T	7.37:g.157370783G>A	ENSP00000374069:p.Ala849Val	False	False		Somatic	0				PTPRN2_ENST00000389418.4_Missense_Mutation_p.A849V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A811V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A832V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A872V	p.A820V	NM_130843.2	NP_570858.2	WXS	Illumina HiSeq	Phase_I	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	17	2562	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	849			Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.2459C>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	2.966	-0.213558	0.06140	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.33	5.33	0.75918	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.607774	0.16155	N	0.227082	T	0.48114	0.1482	N	0.00134	-2.025	0.09310	N	1	B;B;B;B;B	0.17667	0.02;0.009;0.003;0.023;0.009	B;B;B;B;B	0.08055	0.002;0.003;0.002;0.002;0.003	T	0.26744	-1.0094	10	0.02654	T	1	.	14.2668	0.66123	0.0732:0.0:0.9268:0.0	.	872;811;820;832;849	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	811;820;832;849;872	ENSP00000387114:A811V;ENSP00000374064:A820V;ENSP00000374067:A832V;ENSP00000374069:A849V;ENSP00000385464:A872V	ENSP00000374064:A820V	A	-	2	0	PTPRN2	157063544	0.929000	0.31497	0.190000	0.23270	0.069000	0.16628	5.203000	0.65174	2.488000	0.83962	0.655000	0.94253	GCG		0.622	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1	0			7:157370783
HLA-G	3135	broad.mit.edu	37	6	29797288	29797288	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:29797288T>C	ENST00000360323.6	+	4	737	c.713T>C	c.(712-714)aTa>aCa	p.I238T	HLA-G_ENST00000428701.1_Missense_Mutation_p.I238T|HLA-G_ENST00000376818.3_Missense_Mutation_p.I146T|HLA-G_ENST00000376828.2_Missense_Mutation_p.I243T|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	238	Alpha-3.|Ig-like C1-type.				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-dependent (GO:0002479)|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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCGGAGATCATACTGACCTGG	0.627																																						ENST00000428701.1		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(712-714)aTa>aCa		major histocompatibility complex, class I, G							82.0	81.0	81.0					6																	29797288		2203	4299	6502	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797288T>C		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.713T>C	6.37:g.29797288T>C	ENSP00000353472:p.Ile238Thr	False	False		Somatic	0				HLA-G_ENST00000360323.6_Missense_Mutation_p.I238T|HLA-G_ENST00000376818.3_Missense_Mutation_p.I146T|HLA-G_ENST00000376828.2_Missense_Mutation_p.I243T|HLA-G_ENST00000376815.3_Intron	p.I238T	NM_002127.5	NP_002118.1	WXS	Illumina HiSeq	Phase_I	P17693	HLAG_HUMAN			5	891	+			238			Alpha-3.|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000360323.6	37	c.713T>C	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.351567	0.00016	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	1.72	0.804	0.18697	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.193030	0.06727	N	0.775921	T	0.00178	0.0005	N	0.00133	-2.03	0.09310	N	0.999995	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.46005	-0.9222	10	0.02654	T	1	.	2.5661	0.04784	0.2786:0.5364:0.0:0.1851	.	243;146;238	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	T	243;238;238;146	ENSP00000366024:I243T;ENSP00000412927:I238T;ENSP00000353472:I238T;ENSP00000366014:I146T	ENSP00000353472:I238T	I	+	2	0	HLA-G	29905267	0.000000	0.05858	0.201000	0.23476	0.157000	0.22087	-0.420000	0.07062	0.070000	0.16634	-0.817000	0.03123	ATA		0.627	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	0	NM_002127		6:29797288
CDKN2A	1029	broad.mit.edu	37	9	21974702	21974702	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974702T>A	ENST00000304494.5	-	1	395	c.125A>T	c.(124-126)aAt>aTt	p.N42I	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	42					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.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(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)		ACCGTAACTATTCGGTGCGTT	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1341	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(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						c.(124-126)aAt>aTt		cyclin-dependent kinase inhibitor 2A							48.0	58.0	55.0					9																	21974702		2203	4300	6503	SO:0001583	missense	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.chr9:21974702T>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.125A>T	9.37:g.21974702T>A	ENSP00000307101:p.Asn42Ile	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron	p.N42I	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)	1	395	-		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)	42					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.125A>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153068	0.78001	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.69435	-0.4;-0.4	4.89	3.73	0.42828	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.84415	0.5467	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.858	D	0.86363	0.1718	9	0.87932	D	0	.	10.4356	0.44433	0.1463:0.0:0.0:0.8537	.	42;42	P42771;G3XAG3	CD2A1_HUMAN;.	I	42	ENSP00000307101:N42I;ENSP00000394932:N42I	ENSP00000307101:N42I	N	-	2	0	CDKN2A	21964702	1.000000	0.71417	0.034000	0.17996	0.034000	0.12701	5.683000	0.68189	0.964000	0.38108	-0.327000	0.08410	AAT		0.687	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21974702
ZNF638	27332	broad.mit.edu	37	2	71629120	71629120	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:71629120A>G	ENST00000409544.1	+	16	3362	c.2732A>G	c.(2731-2733)aAt>aGt	p.N911S	ZNF638_ENST00000264447.4_Missense_Mutation_p.N911S|ZNF638_ENST00000355812.3_Missense_Mutation_p.N911S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	911	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTGTCTCTAATTTGCCTAAT	0.269																																						ENST00000409544.1		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(2731-2733)aAt>aGt		zinc finger protein 638							84.0	88.0	87.0					2																	71629120		2202	4296	6498	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71629120A>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2732A>G	2.37:g.71629120A>G	ENSP00000386433:p.Asn911Ser	True	False		Somatic	0				ZNF638_ENST00000264447.4_Missense_Mutation_p.N911S|ZNF638_ENST00000355812.3_Missense_Mutation_p.N911S	p.N911S	NM_001252612.1	NP_001239541.1	WXS	Illumina HiSeq	Phase_I	Q14966	ZN638_HUMAN			16	3362	+			911			RRM 2.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.2732A>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981481	0.53827	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.56275	0.47;1.49;1.49	5.69	5.69	0.88448	.	0.272209	0.41500	D	0.000865	T	0.50769	0.1635	M	0.65975	2.015	0.80722	D	1	B;B;P;B	0.35272	0.361;0.287;0.493;0.361	B;B;B;B	0.33454	0.079;0.085;0.164;0.079	T	0.51132	-0.8744	10	0.33940	T	0.23	-4.9239	13.8977	0.63783	1.0:0.0:0.0:0.0	.	911;911;911;911	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	S	490;911;911;911	ENSP00000348066:N911S;ENSP00000264447:N911S;ENSP00000386433:N911S	ENSP00000264447:N911S	N	+	2	0	ZNF638	71482628	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.314000	0.65804	2.167000	0.68274	0.477000	0.44152	AAT		0.269	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	0	NM_014497		2:71629120
NTNG2	84628	broad.mit.edu	37	9	135102349	135102349	+	Missense_Mutation	SNP	G	G	A	rs557724992		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:135102349G>A	ENST00000393229.3	+	4	1747	c.971G>A	c.(970-972)cGc>cAc	p.R324H	NTNG2_ENST00000372179.3_Missense_Mutation_p.R324H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R324H|NTNG2_ENST00000393228.4_Missense_Mutation_p.R324H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	324	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AAGAATTTCCGCACCCGGTCC	0.677																																						ENST00000393229.3		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(970-972)cGc>cAc		netrin G2							40.0	37.0	38.0					9																	135102349		2203	4299	6502	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102349G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.971G>A	9.37:g.135102349G>A	ENSP00000376921:p.Arg324His	False	False		Somatic	0				NTNG2_ENST00000393228.4_Missense_Mutation_p.R324H|NTNG2_ENST00000372179.3_Missense_Mutation_p.R324H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R324H	p.R324H	NM_032536.2	NP_115925.2	WXS	Illumina HiSeq	Phase_I	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1747	+			324			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.971G>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910498	0.52439	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.75	4.75	0.60458	EGF-like, laminin (3);	0.249770	0.32852	N	0.005578	T	0.25975	0.0633	N	0.01473	-0.845	0.42692	D	0.99358	P	0.50066	0.931	B	0.36608	0.229	T	0.34329	-0.9833	10	0.10636	T	0.68	.	16.7144	0.85394	0.0:0.0:1.0:0.0	.	324	Q96CW9	NTNG2_HUMAN	H	324	ENSP00000376921:R324H;ENSP00000376920:R324H;ENSP00000353888:R324H;ENSP00000361252:R324H	ENSP00000353888:R324H	R	+	2	0	NTNG2	134092170	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.158000	0.77470	2.184000	0.69523	0.313000	0.20887	CGC		0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	0	NM_032536		9:135102349
FARP2	9855	broad.mit.edu	37	2	242373703	242373703	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242373703T>A	ENST00000264042.3	+	10	1168	c.998T>A	c.(997-999)gTc>gAc	p.V333D	FARP2_ENST00000545004.1_Missense_Mutation_p.V333D|FARP2_ENST00000373287.4_Missense_Mutation_p.V333D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	333					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCAAAAGCCGTCTTCTTCAGC	0.468																																						ENST00000264042.3		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(997-999)gTc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							95.0	99.0	98.0					2																	242373703		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373703T>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.998T>A	2.37:g.242373703T>A	ENSP00000264042:p.Val333Asp	False	False		Somatic	0				FARP2_ENST00000545004.1_Missense_Mutation_p.V333D|FARP2_ENST00000373287.4_Missense_Mutation_p.V333D	p.V333D	NM_014808.2	NP_055623.1	WXS	Illumina HiSeq	Phase_I	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1168	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	333					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.998T>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347971	0.82132	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.2	5.2	0.72013	FERM adjacent (FA) (1);	0.066906	0.64402	D	0.000010	D	0.91828	0.7414	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72625	0.978;0.968;0.978	D	0.91344	0.5099	10	0.35671	T	0.21	.	15.0632	0.71970	0.0:0.0:0.0:1.0	.	333;333;333	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	333;333;333;20	ENSP00000264042:V333D;ENSP00000443876:V333D;ENSP00000362384:V333D;ENSP00000412772:V20D	ENSP00000264042:V333D	V	+	2	0	FARP2	242022376	1.000000	0.71417	0.158000	0.22627	0.695000	0.40330	6.019000	0.70818	1.956000	0.56807	0.455000	0.32223	GTC		0.468	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1	0			2:242373703
TEX19	400629	broad.mit.edu	37	17	80320465	80320465	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:80320465T>C	ENST00000333437.4	+	2	749	c.439T>C	c.(439-441)Tgg>Cgg	p.W147R		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	147					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GGGTCTTCCCTGGAGATTTGA	0.597																																						ENST00000333437.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(439-441)Tgg>Cgg		testis expressed 19							51.0	51.0	51.0					17																	80320465		2203	4297	6500	SO:0001583	missense	400629					nucleus		g.chr17:80320465T>C	BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.439T>C	17.37:g.80320465T>C	ENSP00000331500:p.Trp147Arg	True	False		Somatic	0					p.W147R	NM_207459.3	NP_997342.1	WXS	Illumina HiSeq	Phase_I	Q8NA77	TEX19_HUMAN			2	749	+			147						Missense_Mutation	SNP	ENST00000333437.4	37	c.439T>C	CCDS11809.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901393	0.33535	.	.	ENSG00000182459	ENST00000333437	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	T	0.58524	0.2128	L	0.34521	1.04	0.36261	D	0.85455	D	0.89917	1.0	D	0.87578	0.998	T	0.66376	-0.5939	8	0.87932	D	0	-12.8215	8.7547	0.34639	0.0:0.0:0.0:1.0	.	147	Q8NA77	TEX19_HUMAN	R	147	.	ENSP00000331500:W147R	W	+	1	0	TEX19	77913754	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	1.553000	0.36255	1.836000	0.53414	0.460000	0.39030	TGG		0.597	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	0	NM_207459		17:80320465
CELSR1	9620	broad.mit.edu	37	22	46931761	46931761	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:46931761G>C	ENST00000262738.3	-	1	1306	c.1307C>G	c.(1306-1308)cCg>cGg	p.P436R	CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	436	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGCGGGCCCGGATTGCGCCC	0.667																																						ENST00000262738.3		NA																	0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1306-1308)cCg>cGg		cadherin, EGF LAG seven-pass G-type receptor 1							45.0	28.0	34.0					22																	46931761		2202	4294	6496	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931761G>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1307C>G	22.37:g.46931761G>C	ENSP00000262738:p.Pro436Arg	True	False		Somatic	0				CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R	p.P436R	NM_014246.1	NP_055061.1	WXS	Illumina HiSeq	Phase_I	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1306	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	436			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1307C>G	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585708	0.46110	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.51574	0.7;0.7	4.65	3.62	0.41486	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	U	0.000004	T	0.68072	0.2961	M	0.78637	2.42	0.39149	D	0.96218	D	0.89917	1.0	D	0.97110	1.0	T	0.74137	-0.3762	10	0.66056	D	0.02	.	13.7659	0.62995	0.0:0.0:0.8449:0.1551	.	436	Q9NYQ6	CELR1_HUMAN	R	436	ENSP00000262738:P436R;ENSP00000379293:P436R	ENSP00000262738:P436R	P	-	2	0	CELSR1	45310425	1.000000	0.71417	0.997000	0.53966	0.534000	0.34807	9.205000	0.95048	0.943000	0.37553	0.462000	0.41574	CCG		0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	0	NM_014246		22:46931761
