#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
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-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	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
KRTAP2-4	85294	broad.mit.edu	37	17	39221759	39221773	+	In_Frame_Del	DEL	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	-	rs368479035|rs200935003|rs200113657|rs532535358|rs349782	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	-	-	GCAGGGGGGCCGGCA	GCAGGGGGGCCGGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	ENST00000394015.2	-	1	358_372	c.325_339delTGCCGGCCCCCCTGC	c.(325-339)tgccggcccccctgcdel	p.CRPPC109del		NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	keratin associated protein 2-4	109	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament (GO:0045095)				skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC	0.66														90	0.0179712	0.0038	0.0202	5008	,	,		17196	0.0308		0.0288	False		,,,				2504	0.0112					ENST00000394015.2		NA																	0				skin(1)	1						c.(325-339)tgccggcccccctgcdel		keratin associated protein 2-4				32,2788		10,12,1388						4.5	1.0			17	146,5894		14,118,2888	no	coding	KRTAP2-4	NM_033184.3		24,130,4276	A1A1,A1R,RR		2.4172,1.1348,2.009				178,8682				SO:0001651	inframe_deletion	85294					keratin filament		g.chr17:39221759_39221773delGCAGGGGGGCCGGCA	AJ406930		17q21.2	2012-04-19			ENSG00000213417	ENSG00000213417		"""Keratin associated proteins"""	18891	protein-coding gene	gene with protein product						11279113	Standard	NM_033184		Approved	KAP2.4	uc002hvy.3	Q9BYR9	OTTHUMG00000133594	ENST00000394015.2:c.325_339delTGCCGGCCCCCCTGC	17.37:g.39221759_39221773delGCAGGGGGGCCGGCA	ENSP00000377583:p.Cys109_Cys113del	True	False		Somatic	1					p.CRPPC109del	NM_033184.3	NP_149440.1	WXS	Illumina HiSeq	Phase_I	Q9BYR9	KRA24_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	358_372	-		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	109			10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].		Q495J2	In_Frame_Del	DEL	ENST00000394015.2	37	c.325_339delTGCCGGCCCCCCTGC	CCDS32648.1																																																																																				0.660	KRTAP2-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257698.1	0	NM_033184		17:39221759
UQCR10	29796	broad.mit.edu	37	22	30163537	30163538	+	Splice_Site	INS	-	-	AAGCTGTGGAAACACATCAAGCACAAGTAT			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:30163537_30163538insAAGCTGTGGAAACACATCAAGCACAAGTAT	ENST00000330029.6	+	1	180	c.150_150insAAGCTGTGGAAACACATCAAGCACAAGTAT	c.(151-153)aag>aaAAGCTGTGGAAACACATCAAGCACAAGTATg	p.51_52insSCGNTSSTSM	ZMAT5_ENST00000397781.3_5'Flank|UQCR10_ENST00000401406.3_In_Frame_Ins_p.50_51insKLWKHIKHKY|ZMAT5_ENST00000344318.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	51					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TCAACGAGGGGGTGAGGGCCTG	0.599																																						ENST00000401406.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						c.(151-153)gtg>AAGCTGTGGAAACACATCAAGCACAAGTATgtg		ubiquinol-cytochrome c reductase, complex III subunit X																																				SO:0001630	splice_region_variant	29796				mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr22:30163537_30163538insAAGCTGTGGAAACACATCAAGCACAAGTAT	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.150+1->AAGCTGTGGAAACACATCAAGCACAAGTAT	22.37:g.30163537_30163538insAAGCTGTGGAAACACATCAAGCACAAGTAT		True	False		Somatic	0				UQCR10_ENST00000330029.6_Splice_Site_p.51_52insSCGNTSSTSM	p.50_51insKLWKHIKHKY			WXS	Illumina HiSeq	Phase_I	Q9UDW1	QCR9_HUMAN			1	175_176	+			50					B5MCM5|Q9T2V6	In_Frame_Ins	INS	ENST00000330029.6	37	c.150_151insAAGCTGTGGAAACACATCAAGCACAAGTAT	CCDS46680.1																																																																																				0.599	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	0	NM_013387	In_Frame_Ins	22:30163537
BRCC3	79184	broad.mit.edu	37	X	154299824	154299825	+	Frame_Shift_Ins	INS	-	-	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:154299824_154299825insC	ENST00000369462.1	+	1	47_48	c.22_23insC	c.(22-24)gcgfs	p.A8fs	BRCC3_ENST00000330045.7_Frame_Shift_Ins_p.A8fs|BRCC3_ENST00000340647.4_Frame_Shift_Ins_p.A8fs|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Frame_Shift_Ins_p.A8fs|CMC4_ENST00000369484.3_5'Flank|BRCC3_ENST00000369459.2_Frame_Shift_Ins_p.A8fs|MTCP1_ENST00000482244.1_5'Flank|MTCP1_ENST00000369476.3_5'Flank	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	8	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ggtggtgcaggcggtgcaggcg	0.639																																						ENST00000369462.1		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(22-24)gcgfs		BRCA1/BRCA2-containing complex, subunit 3																																				SO:0001589	frameshift_variant	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154299824_154299825insC	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.23dupC	X.37:g.154299825_154299825dupC	ENSP00000358474:p.Ala8fs	True	False		Somatic	1				BRCC3_ENST00000340647.4_Frame_Shift_Ins_p.A8fs|BRCC3_ENST00000330045.7_Frame_Shift_Ins_p.A8fs|BRCC3_ENST00000369459.2_Frame_Shift_Ins_p.A8fs|BRCC3_ENST00000399042.1_Frame_Shift_Ins_p.A8fs|MTCP1_ENST00000362018.2_Intron	p.A8fs	NM_024332.3	NP_077308.1	WXS	Illumina HiSeq	Phase_I	P46736	BRCC3_HUMAN			1	47_48	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		8					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Frame_Shift_Ins	INS	ENST00000369462.1	37	c.22_23insC	CCDS56611.1																																																																																				0.639	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	0	NM_024332		X:154299824
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
NFKBIZ	64332	broad.mit.edu	37	3	101576028	101576029	+	Splice_Site	INS	-	-	AAC	rs3217713|rs371844266	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:101576028_101576029insAAC	ENST00000326172.5	+	10	2050		c.e10+1		NFKBIZ_ENST00000394054.2_Splice_Site|NFKBIZ_ENST00000326151.5_Splice_Site	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta						inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GAATGCAAAGGTACACCAGAGT	0.46																																						ENST00000326172.5		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.e10+1		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta																																				SO:0001630	splice_region_variant	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101576028_101576029insAAC	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1935+1->AAC	3.37:g.101576028_101576029insAAC		False	False		Somatic	0				NFKBIZ_ENST00000394054.2_Splice_Site|NFKBIZ_ENST00000326151.5_Splice_Site		NM_031419.3	NP_113607.1	WXS	Illumina HiSeq	Phase_I	Q9BYH8	IKBZ_HUMAN			10	2050	+			NA					B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Splice_Site	INS	ENST00000326172.5	37		CCDS2946.1																																																																																				0.460	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	0	NM_031419	Intron	3:101576028
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
RELN	5649	broad.mit.edu	37	7	103180786	103180786	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:103180786delT	ENST00000428762.1	-	44	6947	c.6788delA	c.(6787-6789)gagfs	p.E2263fs	RELN_ENST00000424685.2_Frame_Shift_Del_p.E2263fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.E2263fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2263					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAAAGGAACTCCTGAAGAAG	0.542																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1		NA																	0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6787-6789)gagfs		reelin							103.0	100.0	101.0					7																	103180786		2203	4300	6503	SO:0001589	frameshift_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180786delT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6788delA	7.37:g.103180786delT	ENSP00000392423:p.Glu2263fs	False	False		Somatic	1				RELN_ENST00000424685.2_Frame_Shift_Del_p.E2263fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.E2263fs	p.E2263fs	NM_005045.3	NP_005036.2	WXS	Illumina HiSeq	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	6947	-			2263					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Frame_Shift_Del	DEL	ENST00000428762.1	37	c.6788delA	CCDS47680.1																																																																																				0.542	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	0	NM_005045		7:103180786
SPATA31A4	642629	broad.mit.edu	37	9	41321645	41321646	+	In_Frame_Ins	INS	-	-	AGA			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:41321645_41321646insAGA	ENST00000429767.1	-	4	3686_3687	c.3658_3659insTCT	c.(3658-3660)aaa>aTCTaa	p.1220_1220K>I*	RP11-95K23.3_ENST00000440883.1_RNA|SPATA31A4_ENST00000603746.1_5'Flank			Q4VX67	S31A4_HUMAN	SPATA31 subfamily A, member 4	1220					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAGTGACATTTTCTTGTCCAGC	0.5																																						ENST00000429767.1		NA																	0					NA						c.(3658-3660)aaa>aTCTaa		SPATA31 subfamily A, member 4																																				SO:0001652	inframe_insertion	642629							g.chr9:41321645_41321646insAGA			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000234214				32004	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A4"""	FAM75A4		20850414	Standard			Approved	OTTHUMG00000066731	uc004abt.4	Q4VX67	OTTHUMG00000066731	ENST00000429767.1:c.3658_3659insTCT	9.37:g.41321645_41321646insAGA	ENSP00000411237:p.Lys1220delinsIle*	True	False		Somatic	0				RP11-95K23.3_ENST00000440883.1_RNA	p.1220_1220K>I*			WXS	Illumina HiSeq	Phase_I					4	3686_3687	-			NA						In_Frame_Ins	INS	ENST00000429767.1	37	c.3658_3659insTCT																																																																																					0.500	SPATA31A4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_001242613		9:41321645
TGFBR1	7046	broad.mit.edu	37	9	101891263	101891287	+	Frame_Shift_Del	DEL	TTGACTTAATTCCTCGAGATAGGCC	TTGACTTAATTCCTCGAGATAGGCC	-	rs200543076		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	TTGACTTAATTCCTCGAGATAGGCC	TTGACTTAATTCCTCGAGATAGGCC	-	-	TTGACTTAATTCCTCGAGATAGGCC	TTGACTTAATTCCTCGAGATAGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:101891263_101891287delTTGACTTAATTCCTCGAGATAGGCC	ENST00000374994.4	+	2	341_365	c.224_248delTTGACTTAATTCCTCGAGATAGGCC	c.(223-249)attgacttaattcctcgagataggccgfs	p.IDLIPRDRP75fs	TGFBR1_ENST00000550253.1_Frame_Shift_Del_p.IDLIPRDRP6fs|TGFBR1_ENST00000374990.2_Frame_Shift_Del_p.IDLIPRDRP75fs|TGFBR1_ENST00000552516.1_Frame_Shift_Del_p.IDLIPRDRP75fs	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	75					activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATAGCTGAAATTGACTTAATTCCTCGAGATAGGCCGTTTGTATGT	0.404																																						ENST00000374994.4		NA																	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(223-249)attgacttaattcctcgagataggccgfs		transforming growth factor, beta receptor 1																																				SO:0001589	frameshift_variant	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101891263_101891287delTTGACTTAATTCCTCGAGATAGGCC		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.224_248delTTGACTTAATTCCTCGAGATAGGCC	9.37:g.101891263_101891287delTTGACTTAATTCCTCGAGATAGGCC	ENSP00000364133:p.Ile75fs	False	False		Somatic	1				TGFBR1_ENST00000374990.2_Frame_Shift_Del_p.IDLIPRDRP75fs|TGFBR1_ENST00000552516.1_Frame_Shift_Del_p.IDLIPRDRP75fs|TGFBR1_ENST00000550253.1_Frame_Shift_Del_p.IDLIPRDRP6fs	p.IDLIPRDRP75fs	NM_004612.2	NP_004603.1	WXS	Illumina HiSeq	Phase_I	P36897	TGFR1_HUMAN			2	341_365	+		Acute lymphoblastic leukemia(62;0.0559)	75					Q6IR47|Q706C0|Q706C1	Frame_Shift_Del	DEL	ENST00000374994.4	37	c.224_248delTTGACTTAATTCCTCGAGATAGGCC	CCDS6738.1																																																																																				0.404	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3	0			9:101891263
ANGEL2	90806	broad.mit.edu	37	1	213178772	213178772	+	Missense_Mutation	SNP	C	C	A	rs373606563		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213178772C>A	ENST00000366962.3	-	5	891	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246								p.R246L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTTCCTGTCCGCATCTTATA	0.363																																						ENST00000366962.3		NA																	1	Substitution - Missense(1)	p.R246L(1)	lung(1)	central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(736-738)cGg>cTg		angel homolog 2 (Drosophila)							96.0	102.0	100.0					1																	213178772		2195	4299	6494	SO:0001583	missense	90806							g.chr1:213178772C>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.737G>T	1.37:g.213178772C>A	ENSP00000355929:p.Arg246Leu	False	False		Somatic	0				ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L	p.R246L	NM_144567.3	NP_653168.2	WXS	Illumina HiSeq	Phase_I	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	891	-			246					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.737G>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606850	0.87157	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95622	-3.76;-3.16;-3.16;-3.76;-3.16	5.45	4.53	0.55603	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.98137	0.9385	M	0.93420	3.415	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	D;D	0.77557	0.959;0.99	D	0.99007	1.0813	10	0.87932	D	0	-10.8417	13.6511	0.62312	0.0:0.9244:0.0:0.0756	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	L	246;77;77;120;77	ENSP00000355929:R246L;ENSP00000353696:R77L;ENSP00000443193:R77L;ENSP00000446124:R120L;ENSP00000438141:R77L	ENSP00000353696:R77L	R	-	2	0	ANGEL2	211245395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.604000	0.67626	1.398000	0.46701	0.650000	0.86243	CGG		0.363	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	0	NM_144567		1:213178772
TUBB4A	10382	broad.mit.edu	37	19	6495371	6495371	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:6495371C>T	ENST00000264071.2	-	4	1510	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	380					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R380L(1)									CTCGGAGATGCGCTTGAACAG	0.637																																						ENST00000264071.2		NA																	1	Substitution - Missense(1)	p.R380L(1)	lung(1)		NA						c.(1138-1140)cGc>cAc		tubulin, beta 4A class IVa							156.0	141.0	146.0					19																	6495371		2203	4298	6501	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495371C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1139G>A	19.37:g.6495371C>T	ENSP00000264071:p.Arg380His	False	False		Somatic	0				TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H	p.R380H			WXS	Illumina HiSeq	Phase_I	P04350	TBB4_HUMAN			4	1510	-			380					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1139G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189398	0.57909	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.83673	-1.75;-1.75	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000002	D	0.88187	0.6369	M	0.91818	3.245	0.58432	D	0.999991	P	0.48764	0.915	P	0.47118	0.538	D	0.91052	0.4879	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	380	P04350	TBB4A_HUMAN	H	380;380;298	ENSP00000264071:R380H;ENSP00000443590:R380H	ENSP00000264071:R380H	R	-	2	0	TUBB4	6446371	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.681000	0.84073	1.473000	0.48159	0.306000	0.20318	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	0	NM_006087		19:6495371
LAMA3	3909	broad.mit.edu	37	18	21355821	21355821	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:21355821C>G	ENST00000313654.9	+	10	1580	c.1339C>G	c.(1339-1341)Cca>Gca	p.P447A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	447	Domain V.|Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCACTGCAAGCCAAATTTCCA	0.498																																						ENST00000313654.9		NA																	0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1339-1341)Cca>Gca		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						78.0	75.0	76.0					18																	21355821		1972	4163	6135	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21355821C>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1339C>G	18.37:g.21355821C>G	ENSP00000324532:p.Pro447Ala	False	False		Somatic	0				LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	p.P447A	NM_198129.1	NP_937762.1	WXS	Illumina HiSeq	Phase_I	Q16787	LAMA3_HUMAN			10	1580	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		447			Domain V.|Laminin EGF-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1339C>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	7.523	0.657060	0.14580	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.62105	0.05;0.05	4.76	1.88	0.25563	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.53158	0.1779	L	0.58510	1.815	0.48288	D	0.99962	B;B;B	0.34399	0.452;0.216;0.064	B;B;B	0.36567	0.228;0.069;0.069	T	0.37596	-0.9699	9	0.18710	T	0.47	.	7.7107	0.28675	0.0:0.7066:0.1346:0.1588	.	447;447;447	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	A	447;447;445;447	ENSP00000324532:P447A;ENSP00000382432:P447A	ENSP00000324532:P447A	P	+	1	0	LAMA3	19609819	0.034000	0.19679	0.358000	0.25811	0.709000	0.40893	0.580000	0.23803	0.603000	0.29913	-0.186000	0.12905	CCA		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	0	NM_000227, NM_198129		18:21355821
COA6	388753	broad.mit.edu	37	1	234519507	234519507	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:234519507C>A	ENST00000366613.1	+	3	357	c.321C>A	c.(319-321)ttC>ttA	p.F107L	COA6_ENST00000366615.4_Missense_Mutation_p.F137L|COA6_ENST00000366612.1_Missense_Mutation_p.F61L	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	107						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										ACTTAAAATTCAAAGAAAAAT	0.303																																						ENST00000366612.1		NA																	0					NA						c.(181-183)ttC>ttA		cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)							41.0	45.0	44.0					1																	234519507		2202	4298	6500	SO:0001583	missense	388753							g.chr1:234519507C>A		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.321C>A	1.37:g.234519507C>A	ENSP00000355572:p.Phe107Leu	True	False		Somatic	0				COA6_ENST00000366613.1_Missense_Mutation_p.F107L|COA6_ENST00000366615.4_Missense_Mutation_p.F137L	p.F61L			WXS	Illumina HiSeq	Phase_I					2	728	+			NA					Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP	ENST00000366613.1	37	c.183C>A	CCDS31059.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895545	0.72639	.	.	ENSG00000168275	ENST00000366615;ENST00000424237;ENST00000366613;ENST00000366612	D;D;D	0.86097	-2.07;-2.07;-2.07	5.78	2.92	0.33932	.	0.063954	0.64402	D	0.000005	D	0.89174	0.6640	M	0.76170	2.325	0.35379	D	0.7897	D	0.67145	0.996	P	0.62298	0.9	D	0.89736	0.3930	10	0.48119	T	0.1	.	8.8568	0.35234	0.0:0.6461:0.0:0.3539	.	107	Q5JTJ3	CA031_HUMAN	L	137;138;107;61	ENSP00000355574:F137L;ENSP00000355572:F107L;ENSP00000355571:F61L	ENSP00000355571:F61L	F	+	3	2	C1orf31	232586130	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.799000	0.27028	0.462000	0.27095	-0.150000	0.13652	TTC		0.303	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	0	NM_001012985		1:234519507
RNF41	10193	broad.mit.edu	37	12	56600246	56600246	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:56600246G>A	ENST00000345093.4	-	7	1308	c.939C>T	c.(937-939)ggC>ggT	p.G313G	RNF41_ENST00000552656.1_Silent_p.G313G|RNF41_ENST00000394013.2_Silent_p.G242G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	313					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCTCTTCCACGCCATGCGCAA	0.522											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000345093.4		NA																	0				breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						c.(937-939)ggC>ggT		ring finger protein 41							173.0	167.0	169.0					12																	56600246		2203	4300	6503	SO:0001819	synonymous_variant	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56600246G>A	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.939C>T	12.37:g.56600246G>A		False	False		Somatic	0	OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	RNF41_ENST00000552656.1_Silent_p.G313G|RNF41_ENST00000394013.2_Silent_p.G242G	p.G313G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	WXS	Illumina HiSeq	Phase_I	Q9H4P4	RNF41_HUMAN			7	1308	-			313					A6NFW0|B2RBT8|O75598	Silent	SNP	ENST00000345093.4	37	c.939C>T	CCDS8909.1																																																																																				0.522	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	0	NM_005785		12:56600246
ARID1A	8289	broad.mit.edu	37	1	27099950	27099950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:27099950C>T	ENST00000324856.7	+	15	4200	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1277*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1277					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGACCACGACAGCACTATCC	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7		NA		Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Deletion - Frameshift(2)|Complex(1)	p.G1274fs*7(2)|p.M1273fs(1)	liver(3)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3829-3831)Cag>Tag		AT rich interactive domain 1A (SWI-like)							73.0	65.0	67.0					1																	27099950		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099950C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3829C>T	1.37:g.27099950C>T	ENSP00000320485:p.Gln1277*	False	False		Somatic	0				ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1277*	p.Q1277*	NM_006015.4	NP_006006.3	WXS	Illumina HiSeq	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4200	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1277					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3829C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.172493|9.172493	0.99089|0.99089	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.053822|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73938	.|0.3651	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72997	.|-0.4121	.|4	0.09843|.	T|.	0.71|.	-1.2962|-1.2962	18.2413|18.2413	0.89968|0.89968	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1277;1277;894|173	.|.	ENSP00000320485:Q1277X|.	Q|T	+|+	1|2	0|0	ARID1A|ARID1A	26972537|26972537	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.231000|7.231000	0.78106|0.78106	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	0	NM_139135		1:27099950
CTNND2	1501	broad.mit.edu	37	5	11364949	11364949	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:11364949G>A	ENST00000304623.8	-	8	1420	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	411					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAGGGCCCGCAACTCTGGG	0.577																																						ENST00000304623.8		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1231-1233)Cgg>Tgg		catenin (cadherin-associated protein), delta 2							49.0	54.0	52.0					5																	11364949		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364949G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1231C>T	5.37:g.11364949G>A	ENSP00000307134:p.Arg411Trp	True	False		Somatic	0				CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W	p.R411W	NM_001332.2	NP_001323.1	WXS	Illumina HiSeq	Phase_I	Q9UQB3	CTND2_HUMAN			8	1420	-			411					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1231C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504805	0.85176	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	D;D;D;T	0.83419	-1.6;-1.72;-1.6;-1.41	5.47	4.52	0.55395	.	0.000000	0.64402	D	0.000019	D	0.88097	0.6345	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.88375	0.2997	10	0.87932	D	0	-20.37	10.9741	0.47456	0.0:0.0:0.5842:0.4157	.	74;411	B4DRK2;Q9UQB3	.;CTND2_HUMAN	W	411;411;320;74;151	ENSP00000307134:R411W;ENSP00000352661:R411W;ENSP00000426510:R320W;ENSP00000426887:R74W	ENSP00000307134:R411W	R	-	1	2	CTNND2	11417949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.008000	0.49544	2.581000	0.87130	0.655000	0.94253	CGG		0.577	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	0	NM_001332		5:11364949
GRIK2	2898	broad.mit.edu	37	6	102266348	102266348	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266348C>T	ENST00000421544.1	+	9	1797	c.1307C>T	c.(1306-1308)aCc>aTc	p.T436I	GRIK2_ENST00000369138.1_Missense_Mutation_p.T436I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTGATTGTTACCACCATTTTG	0.383																																						ENST00000369138.1		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1306-1308)aCc>aTc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						192.0	172.0	179.0					6																	102266348		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102266348C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1307C>T	6.37:g.102266348C>T	ENSP00000397026:p.Thr436Ile	False	False		Somatic	0				GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436I	p.T436I	NM_001166247.1	NP_001159719.1	WXS	Illumina HiSeq	Phase_I	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1797	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	436					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1307C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935787	0.73442	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35789	2.8;2.8;2.8;2.8;2.8;2.8;1.29;2.8	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.56673	0.2001	M	0.77406	2.37	0.54753	D	0.999982	D;P;D	0.58970	0.984;0.932;0.984	D;P;P	0.65573	0.936;0.794;0.899	T	0.57665	-0.7772	10	0.59425	D	0.04	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436I;ENSP00000405596:T436I;ENSP00000358134:T436I;ENSP00000358133:T436I;ENSP00000313276:T436I;ENSP00000358130:T387I;ENSP00000391988:T149I;ENSP00000407140:T35I	ENSP00000313276:T436I	T	+	2	0	GRIK2	102373041	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.753000	0.94483	0.643000	0.83706	ACC		0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	0			6:102266348
USP17L2	377630	broad.mit.edu	37	8	11995011	11995011	+	Nonsense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11995011A>T	ENST00000333796.3	-	1	1575	c.1259T>A	c.(1258-1260)tTg>tAg	p.L420*	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	420	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCGCTCGTCCAACTCGGGTGC	0.567																																						ENST00000333796.3		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1258-1260)tTg>tAg		ubiquitin specific peptidase 17-like family member 2							59.0	64.0	62.0					8																	11995011		1603	3597	5200	SO:0001587	stop_gained	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995011A>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1259T>A	8.37:g.11995011A>T	ENSP00000333329:p.Leu420*	False	False		Somatic	0				FAM66D_ENST00000434078.2_RNA	p.L420*	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	WXS	Illumina HiSeq	Phase_I	Q6R6M4	U17L2_HUMAN			1	1575	-			420						Nonsense_Mutation	SNP	ENST00000333796.3	37	c.1259T>A	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836544	0.71373	.	.	ENSG00000223443	ENST00000333796	.	.	.	0.36	-0.721	0.11189	.	0.944627	0.08527	U	0.932543	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	.	.	.	.	.	.	.	X	420	.	ENSP00000333329:L420X	L	-	2	0	USP17L2	12032420	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.011000	0.12721	-0.718000	0.04949	-0.731000	0.03576	TTG		0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	0	NM_201402		8:11995011
MYO9A	4649	broad.mit.edu	37	15	72300289	72300289	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:72300289A>G	ENST00000356056.5	-	8	1730	c.1258T>C	c.(1258-1260)Ttc>Ctc	p.F420L	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.F420L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	420	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGAGAAAATCCTGGGA	0.343																																						ENST00000356056.5		NA																	0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1258-1260)Ttc>Ctc		myosin IXA							90.0	92.0	91.0					15																	72300289		2199	4296	6495	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72300289A>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1258T>C	15.37:g.72300289A>G	ENSP00000348349:p.Phe420Leu	True	False		Somatic	0				RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.F420L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L	p.F420L	NM_006901.3	NP_008832.2	WXS	Illumina HiSeq	Phase_I	B2RTY4	MYO9A_HUMAN			8	1730	-			420			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1258T>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657601	0.88154	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87256	-2.23;-2.23;-2.23	5.28	5.28	0.74379	Myosin head, motor domain (2);	.	.	.	.	D	0.89966	0.6868	L	0.59436	1.845	0.80722	D	1	D;P;P;P	0.69078	0.997;0.474;0.794;0.859	P;P;P;P	0.59643	0.861;0.523;0.523;0.781	D	0.90607	0.4549	9	0.72032	D	0.01	.	11.2077	0.48780	0.8465:0.1535:0.0:0.0	.	401;420;401;420	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	L	420;420;401;401;420	ENSP00000348349:F420L;ENSP00000399162:F420L;ENSP00000398250:F401L	ENSP00000261864:F401L	F	-	1	0	MYO9A	70087343	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.834000	0.75339	2.107000	0.64212	0.460000	0.39030	TTC		0.343	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	NM_006901		15:72300289
SLC35G5	83650	broad.mit.edu	37	8	11188791	11188791	+	Missense_Mutation	SNP	G	G	A	rs370522572		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11188791G>A	ENST00000382435.4	+	1	395	c.176G>A	c.(175-177)cGt>cAt	p.R59H		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	59	EamA 1.					integral component of membrane (GO:0016021)											CCCCTTTCTCGTATGGCTTAC	0.647																																						ENST00000382435.4		NA																	0					NA						c.(175-177)cGt>cAt		solute carrier family 35, member G5		G	HIS/ARG	0,4406		0,0,2203	111.0	109.0	110.0		176	0.3	0.9	8		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35G5	NM_054028.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	59/339	11188791	1,13005	2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11188791G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.176G>A	8.37:g.11188791G>A	ENSP00000371872:p.Arg59His	False	False		Somatic	0					p.R59H	NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	WXS	Illumina HiSeq	Phase_I	Q96KT7	AMCL2_HUMAN			1	395	+			59			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.176G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814400	0.32053	0.0	1.16E-4	ENSG00000177710	ENST00000382435	T	0.54279	0.58	0.34	0.34	0.15985	.	0.000000	0.45867	D	0.000330	T	0.35068	0.0919	L	0.32530	0.975	0.41837	D	0.990104	B	0.12013	0.005	B	0.14023	0.01	T	0.10451	-1.0629	10	0.41790	T	0.15	-1.8351	6.5344	0.22344	2.0E-4:0.0:0.9998:0.0	.	59	Q96KT7	S35G5_HUMAN	H	59	ENSP00000371872:R59H	ENSP00000371872:R59H	R	+	2	0	SLC35G5	11226201	0.908000	0.30866	0.916000	0.36221	0.263000	0.26337	3.696000	0.54757	0.426000	0.26116	0.089000	0.15464	CGT		0.647	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	0	NM_054028		8:11188791
ARHGEF15	22899	broad.mit.edu	37	17	8216367	8216367	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	243					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGCCTCCCCGCTGCGGACCT	0.697																																						ENST00000361926.3		NA																	0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(727-729)ccG>ccA		Rho guanine nucleotide exchange factor (GEF) 15							50.0	56.0	54.0					17																	8216367		2203	4299	6502	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216367G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.729G>A	17.37:g.8216367G>A		True	False		Somatic	0				ARHGEF15_ENST00000421050.1_Silent_p.P243P	p.P243P	NM_173728.3	NP_776089.2	WXS	Illumina HiSeq	Phase_I	O94989	ARHGF_HUMAN			3	839	+			243					A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.729G>A	CCDS11139.1																																																																																				0.697	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	0	NM_173728		17:8216367
TCEB3B	51224	broad.mit.edu	37	18	44559687	44559687	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:44559687G>A	ENST00000332567.4	-	1	2301	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	650	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATCATAAGGCGTCTTGGCCAC	0.537																																						ENST00000332567.4		NA																	0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1948-1950)aCg>aTg		transcription elongation factor B polypeptide 3B (elongin A2)							132.0	133.0	133.0					18																	44559687		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559687G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1949C>T	18.37:g.44559687G>A	ENSP00000331302:p.Thr650Met	False	False		Somatic	0				KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.T650M	NM_016427.2	NP_057511.2	WXS	Illumina HiSeq	Phase_I	Q8IYF1	ELOA2_HUMAN			1	2301	-			650			Activation domain (By similarity).		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1949C>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307100	0.23821	.	.	ENSG00000206181	ENST00000332567	T	0.07216	3.21	1.4	-0.709	0.11237	.	0.754074	0.11156	U	0.593616	T	0.16471	0.0396	L	0.44542	1.39	0.09310	N	1	D	0.71674	0.998	D	0.71414	0.973	T	0.15636	-1.0430	10	0.62326	D	0.03	-1.8221	6.9376	0.24474	0.0:0.5733:0.4267:0.0	.	650	Q8IYF1	ELOA2_HUMAN	M	650	ENSP00000331302:T650M	ENSP00000331302:T650M	T	-	2	0	TCEB3B	42813685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.276000	0.18716	-0.250000	0.09555	-0.222000	0.12452	ACG		0.537	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	0	NM_016427		18:44559687
MAST2	23139	broad.mit.edu	37	1	46493452	46493452	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:46493452T>C	ENST00000361297.2	+	17	2252	c.1969T>C	c.(1969-1971)Tcc>Ccc	p.S657P	MAST2_ENST00000372009.2_Missense_Mutation_p.S587P	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTTGGACTGTCCAAAATTGG	0.443																																						ENST00000361297.2		NA																	0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1969-1971)Tcc>Ccc		microtubule associated serine/threonine kinase 2							116.0	112.0	113.0					1																	46493452		1911	4145	6056	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46493452T>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1969T>C	1.37:g.46493452T>C	ENSP00000354671:p.Ser657Pro	False	False		Somatic	0				MAST2_ENST00000372009.2_Missense_Mutation_p.S587P	p.S657P	NM_015112.2	NP_055927.2	WXS	Illumina HiSeq	Phase_I	Q6P0Q8	MAST2_HUMAN			17	2252	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		657			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.1969T>C	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.959572	0.92791	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.31769	1.48;1.48;1.48	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057231	0.64402	D	0.000001	T	0.63674	0.2531	M	0.90759	3.145	0.80722	D	1	D;P;D;D	0.89917	0.981;0.939;1.0;0.972	D;P;D;P	0.91635	0.972;0.798;0.999;0.835	T	0.72507	-0.4272	10	0.87932	D	0	-15.7057	15.761	0.78080	0.0:0.0:0.0:1.0	.	587;331;587;657	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	P	657;587;331;542	ENSP00000354671:S657P;ENSP00000361079:S587P;ENSP00000361078:S542P	ENSP00000354671:S657P	S	+	1	0	MAST2	46266039	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.040000	0.89188	2.190000	0.69967	0.459000	0.35465	TCC		0.443	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	0	NM_015112		1:46493452
ATRNL1	26033	broad.mit.edu	37	10	117226743	117226743	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:117226743G>A	ENST00000355044.3	+	23	3603	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ATRNL1_ENST00000423111.2_Silent_p.T210T|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1159					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAACATTACGTGGTCTGTCG	0.294																																						ENST00000355044.3		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3475-3477)acG>acA		attractin-like 1							130.0	125.0	127.0					10																	117226743		2202	4296	6498	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117226743G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3477G>A	10.37:g.117226743G>A		False	False		Somatic	0				ATRNL1_ENST00000423111.2_Silent_p.T210T|ATRNL1_ENST00000303745.7_Intron	p.T1159T	NM_207303.2	NP_997186.1	WXS	Illumina HiSeq	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3603	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1159					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3477G>A	CCDS7592.1																																																																																				0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	0	XM_049349		10:117226743
FARSA	2193	broad.mit.edu	37	19	13039582	13039582	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:13039582C>T	ENST00000314606.4	-	5	601	c.583G>A	c.(583-585)Gag>Aag	p.E195K	FARSA_ENST00000588025.1_Missense_Mutation_p.E235K|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Intron	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	195					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAGATCATCTCTGGGCTCAGC	0.627																																						ENST00000588025.1		NA																	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(703-705)Gag>Aag		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						114.0	96.0	103.0					19																	13039582		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039582C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.583G>A	19.37:g.13039582C>T	ENSP00000320309:p.Glu195Lys	False	False		Somatic	0				FARSA_ENST00000423140.2_Intron|FARSA_ENST00000314606.4_Missense_Mutation_p.E195K	p.E235K			WXS	Illumina HiSeq	Phase_I	Q9Y285	SYFA_HUMAN			6	843	-			195					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.703G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517058	0.85495	.	.	ENSG00000179115	ENST00000314606	T	0.68903	-0.36	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.91872	3.25	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.55222	0.771;0.771	D	0.87035	0.2137	10	0.87932	D	0	-15.1624	17.0788	0.86593	0.0:1.0:0.0:0.0	.	195;195	Q6IBR2;Q9Y285	.;SYFA_HUMAN	K	195	ENSP00000320309:E195K	ENSP00000320309:E195K	E	-	1	0	FARSA	12900582	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.952000	0.75989	2.563000	0.86464	0.563000	0.77884	GAG		0.627	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	0	NM_004461		19:13039582
HDAC9	9734	broad.mit.edu	37	7	18767353	18767353	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:18767353C>A	ENST00000432645.2	+	12	1873	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	HDAC9_ENST00000406451.4_Missense_Mutation_p.R625S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S|HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	625					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAATGGACCGCCCCCTCCA	0.527																																						ENST00000406451.4		NA																	0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1873-1875)Cgc>Agc		histone deacetylase 9	Valproic Acid(DB00313)						41.0	46.0	44.0					7																	18767353		1988	4143	6131	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18767353C>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1873C>A	7.37:g.18767353C>A	ENSP00000410337:p.Arg625Ser	False	False		Somatic	0				HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S|HDAC9_ENST00000432645.2_Missense_Mutation_p.R625S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S	p.R625S	NM_178423.1	NP_848510.1	WXS	Illumina HiSeq	Phase_I	Q9UKV0	HDAC9_HUMAN			13	2023	+	all_lung(11;0.187)		NA					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1873C>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	5.499	0.276989	0.10403	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.57107	0.43;0.42;0.42;0.43	4.87	1.44	0.22558	.	0.387462	0.22358	N	0.061105	T	0.35537	0.0935	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B;B	0.19817	0.001;0.01;0.034;0.01;0.02;0.01;0.039	B;B;B;B;B;B;B	0.17979	0.003;0.01;0.018;0.018;0.008;0.018;0.02	T	0.10337	-1.0634	10	0.09338	T	0.73	-24.6513	9.38	0.38306	0.0:0.7311:0.0:0.2689	.	625;537;584;628;625;625;603	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	S	625;584;625;628;537	ENSP00000384657:R625S;ENSP00000383912:R584S;ENSP00000410337:R625S;ENSP00000408617:R628S	ENSP00000339165:R537S	R	+	1	0	HDAC9	18733878	1.000000	0.71417	0.829000	0.32907	0.991000	0.79684	1.096000	0.30976	0.150000	0.19136	0.557000	0.71058	CGC		0.527	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	0			7:18767353
CAPN6	827	broad.mit.edu	37	X	110494274	110494274	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:110494274C>A	ENST00000324068.1	-	8	1196	c.1029G>T	c.(1027-1029)gtG>gtT	p.V343V	CAPN6_ENST00000541758.1_Silent_p.V88V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	343	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TAGGGTTGTTCACATTGCGGC	0.463																																						ENST00000324068.1		NA																	0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1027-1029)gtG>gtT		calpain 6							330.0	294.0	306.0					X																	110494274		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494274C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1029G>T	X.37:g.110494274C>A		False	False		Somatic	0				CAPN6_ENST00000541758.1_Silent_p.V88V	p.V343V	NM_014289.3	NP_055104.2	WXS	Illumina HiSeq	Phase_I	Q9Y6Q1	CAN6_HUMAN			8	1196	-			343			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.1029G>T	CCDS14555.1																																																																																				0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1	0			X:110494274
CYP11B1	1584	broad.mit.edu	37	8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A	rs372115638		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCTCCTGGCGCAGGGCCTGC	0.642									Familial Hyperaldosteronism type I																													ENST00000292427.4		NA																	0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	GRCh37	HM972176	CYP11B1	M		c.(1021-1023)Cgc>Tgc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	78.0	80.0	79.0		1021,1021	2.2	1.0	8		79	1,8599		0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	341/504,341/438	143957228	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957228G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1021C>T	8.37:g.143957228G>A	ENSP00000292427:p.Arg341Cys	False	False		Somatic	0				CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C	p.R341C	NM_000497.3	NP_000488.3	WXS	Illumina HiSeq	Phase_I	P15538	C11B1_HUMAN			6	1053	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		341					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1021C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456204	0.63401	0.0	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73152	-0.72;2.31;-0.72	4.42	2.16	0.27623	.	0.126247	0.31963	N	0.006789	D	0.85652	0.5746	M	0.93854	3.465	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.997;0.976;0.999	D	0.86599	0.1865	10	0.66056	D	0.02	.	9.7347	0.40382	0.0:0.0:0.4473:0.5527	.	412;341;341;341;57	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	C	341;341;412	ENSP00000292427:R341C;ENSP00000428043:R341C;ENSP00000366903:R412C	ENSP00000292427:R341C	R	-	1	0	CYP11B1	143954230	0.011000	0.17503	0.991000	0.47740	0.808000	0.45660	0.560000	0.23500	0.949000	0.37715	0.555000	0.69702	CGC		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2	0			8:143957228
VAX2	25806	broad.mit.edu	37	2	71148347	71148347	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:71148347C>T	ENST00000234392.2	+	2	399	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	123					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R123S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAGTTCCAGCGCTGCCAGTA	0.637																																						ENST00000234392.2		NA																	1	Substitution - Missense(1)	p.R123S(1)	lung(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(367-369)Cgc>Tgc		ventral anterior homeobox 2							43.0	42.0	42.0					2																	71148347		2203	4300	6503	SO:0001583	missense	25806				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:71148347C>T	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.367C>T	2.37:g.71148347C>T	ENSP00000234392:p.Arg123Cys	False	False		Somatic	0					p.R123C	NM_012476.2	NP_036608.1	WXS	Illumina HiSeq	Phase_I	Q9UIW0	VAX2_HUMAN			2	399	+			123					Q53Y33	Missense_Mutation	SNP	ENST00000234392.2	37	c.367C>T	CCDS1911.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967070	0.74131	.	.	ENSG00000116035	ENST00000234392	D	0.96365	-3.99	5.43	4.47	0.54385	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.059173	0.64402	D	0.000005	D	0.96632	0.8901	L	0.52905	1.665	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.96374	0.9276	10	0.72032	D	0.01	-14.5215	12.2143	0.54398	0.2453:0.7547:0.0:0.0	.	123	Q9UIW0	VAX2_HUMAN	C	123	ENSP00000234392:R123C	ENSP00000234392:R123C	R	+	1	0	VAX2	71001855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.230000	0.42999	2.547000	0.85894	0.655000	0.94253	CGC		0.637	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1	0			2:71148347
CCDC70	83446	broad.mit.edu	37	13	52439534	52439534	+	Missense_Mutation	SNP	G	G	T	rs141731440		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52439534G>T	ENST00000242819.4	+	2	316	c.20G>T	c.(19-21)cGg>cTg	p.R7L		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	7						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCGCCATTCCGGCTGATAAGG	0.577																																						ENST00000242819.4		NA																	0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(19-21)cGg>cTg		coiled-coil domain containing 70							46.0	46.0	46.0					13																	52439534		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439534G>T		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.20G>T	13.37:g.52439534G>T	ENSP00000242819:p.Arg7Leu	False	False		Somatic	0					p.R7L	NM_031290.2	NP_112580.2	WXS	Illumina HiSeq	Phase_I	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	316	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	7					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.20G>T	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	3.641	-0.073442	0.07184	.	.	ENSG00000123171	ENST00000242819	T	0.35789	1.29	4.67	1.94	0.25998	.	1.136360	0.06681	N	0.767977	T	0.25827	0.0629	N	0.24115	0.695	0.09310	N	1	B	0.23185	0.081	B	0.23275	0.045	T	0.29488	-1.0010	10	0.46703	T	0.11	-2.2162	6.8951	0.24251	0.2994:0.0:0.7006:0.0	.	7	Q6NSX1	CCD70_HUMAN	L	7	ENSP00000242819:R7L	ENSP00000242819:R7L	R	+	2	0	CCDC70	51337535	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.745000	0.26259	0.143000	0.18926	-0.672000	0.03802	CGG		0.577	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	0	NM_031290		13:52439534
PLEC	5339	broad.mit.edu	37	8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	rs137853161		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144994985G>A	ENST00000322810.4	-	32	9584	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCACCTCGCTGCAGCTGC	0.687																																						ENST00000322810.4		NA																	0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137	GRCh37	CM050309	PLEC	M	rs137853161	c.(9415-9417)Cga>Tga		plectin							20.0	24.0	22.0					8																	144994985		2052	4156	6208	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994985G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9415C>T	8.37:g.144994985G>A	ENSP00000323856:p.Arg3139*	False	False		Somatic	0				PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*	p.R3139*	NM_201380.2	NP_958782.1	WXS	Illumina HiSeq	Phase_I	Q15149	PLEC_HUMAN			32	9584	-			3139			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.9415C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	49	15.377758	0.99832	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.6	3.71	0.42584	.	0.750881	0.11464	U	0.561429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	13.7863	0.63112	0.0:0.1557:0.8443:0.0	.	.	.	.	X	3002;3006;3002;2970;3139;2980;2988;3029;3025	.	ENSP00000323856:R3139X	R	-	1	2	PLEC	145066973	0.864000	0.29904	0.748000	0.31131	0.005000	0.04900	2.894000	0.48640	1.042000	0.40150	0.448000	0.29417	CGA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	NM_000445		8:144994985
FBN2	2201	broad.mit.edu	37	5	127624885	127624885	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:127624885C>T	ENST00000508053.1	-	58	7545	c.6571G>A	c.(6571-6573)Gac>Aac	p.D2191N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N			P35556	FBN2_HUMAN	fibrillin 2	2191	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAAGATCCGTCGGTGTTGATA	0.413																																						ENST00000508053.1		NA																	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6571-6573)Gac>Aac		fibrillin 2							161.0	150.0	154.0					5																	127624885		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127624885C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6571G>A	5.37:g.127624885C>T	ENSP00000424571:p.Asp2191Asn	False	False		Somatic	0				FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N	p.D2191N			WXS	Illumina HiSeq	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	58	7545	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2191			EGF-like 36; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6571G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715887	0.89112	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92299	-3.01;-3.01	5.76	4.88	0.63580	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.090325	0.48286	D	0.000191	D	0.87087	0.6090	L	0.46885	1.475	0.51233	D	0.999917	P	0.51933	0.949	B	0.35470	0.203	D	0.86989	0.2109	10	0.34782	T	0.22	.	15.7202	0.77705	0.0:0.9314:0.0:0.0686	.	2191	P35556	FBN2_HUMAN	N	2191	ENSP00000262464:D2191N;ENSP00000424571:D2191N	ENSP00000262464:D2191N	D	-	1	0	FBN2	127652784	1.000000	0.71417	0.702000	0.30337	0.730000	0.41778	5.939000	0.70179	2.882000	0.98803	0.655000	0.94253	GAC		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	0	NM_001999		5:127624885
FAM160A2	84067	broad.mit.edu	37	11	6235766	6235766	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:6235766G>A	ENST00000449352.2	-	11	2695	c.2432C>T	c.(2431-2433)gCg>gTg	p.A811V	FAM160A2_ENST00000265978.4_Missense_Mutation_p.A825V|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	811					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGGGAAGCCGCAAAGTTCTC	0.532																																						ENST00000265978.4		NA																	0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2473-2475)gCg>gTg		family with sequence similarity 160, member A2							117.0	119.0	118.0					11																	6235766		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6235766G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2432C>T	11.37:g.6235766G>A	ENSP00000416918:p.Ala811Val	False	False		Somatic	0				FAM160A2_ENST00000449352.2_Missense_Mutation_p.A811V|FAM160A2_ENST00000529360.1_5'UTR	p.A825V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	WXS	Illumina HiSeq	Phase_I	Q8N612	F16A2_HUMAN			11	2832	-			811					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2474C>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.717264	0.89205	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.11277	2.81;2.79	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.00731	-1.1590	10	0.30078	T	0.28	-9.5991	17.6957	0.88281	0.0:0.0:1.0:0.0	.	811;825	Q8N612;Q8N612-2	F16A2_HUMAN;.	V	811;825	ENSP00000416918:A811V;ENSP00000265978:A825V	ENSP00000265978:A825V	A	-	2	0	FAM160A2	6192342	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	9.136000	0.94489	2.391000	0.81399	0.457000	0.33378	GCG		0.532	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	0	NM_032127		11:6235766
PSMB4	5692	broad.mit.edu	37	1	151372581	151372581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:151372581C>T	ENST00000290541.6	+	2	319	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	89					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)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGCATTATGCGAGTCAACAA	0.537																																						ENST00000290541.6		NA																	0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(265-267)Cga>Tga		proteasome (prosome, macropain) subunit, beta type, 4							168.0	169.0	168.0					1																	151372581		2203	4300	6503	SO:0001587	stop_gained	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372581C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.265C>T	1.37:g.151372581C>T	ENSP00000290541:p.Arg89*	False	False		Somatic	0					p.R89*	NM_002796.2	NP_002787.2	WXS	Illumina HiSeq	Phase_I	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	319	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		89					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Nonsense_Mutation	SNP	ENST00000290541.6	37	c.265C>T	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459609	0.84317	.	.	ENSG00000159377	ENST00000290541	.	.	.	5.34	2.32	0.28847	.	0.261003	0.36703	N	0.002445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.0211	13.7733	0.63038	0.6506:0.3494:0.0:0.0	.	.	.	.	X	89	.	ENSP00000290541:R89X	R	+	1	2	PSMB4	149639205	0.998000	0.40836	0.954000	0.39281	0.610000	0.37248	0.845000	0.27668	0.197000	0.20387	-0.314000	0.08810	CGA		0.537	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	0	NM_002796		1:151372581
PCDH10	57575	broad.mit.edu	37	4	134073128	134073128	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:134073128C>T	ENST00000264360.5	+	1	2659	c.1833C>T	c.(1831-1833)ggC>ggT	p.G611G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGACGACGGCGAGAACGCCC	0.692																																						ENST00000264360.5		NA																	0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1831-1833)ggC>ggT		protocadherin 10							27.0	31.0	29.0					4																	134073128		2132	4234	6366	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073128C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1833C>T	4.37:g.134073128C>T		False	False		Somatic	0					p.G611G	NM_032961.1	NP_116586.1	WXS	Illumina HiSeq	Phase_I	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2659	+			NA			Cadherin 6.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1833C>T	CCDS34063.1																																																																																				0.692	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	NM_032961		4:134073128
FZD10	11211	broad.mit.edu	37	12	130648711	130648711	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:130648711C>T	ENST00000229030.4	+	1	1708	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	FZD10_ENST00000539839.1_Missense_Mutation_p.R376W|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	408					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCTGGTCATCGGCACGTCCT	0.642																																						ENST00000539839.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1126-1128)Cgg>Tgg		frizzled family receptor 10							146.0	133.0	137.0					12																	130648711		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648711C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1224C>T	12.37:g.130648711C>T		False	False		Somatic	0				FZD10_ENST00000229030.4_Silent_p.I408I	p.R376W	NM_007197.3	NP_009128.1	WXS	Illumina HiSeq	Phase_I	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1708	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.1126C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	8.505	0.865101	0.17250	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.21	-2.84	0.05751	.	.	.	.	.	T	0.68888	0.3050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72903	-0.4151	5	0.87932	D	0	.	12.273	0.54716	0.0:0.2908:0.5973:0.1119	.	.	.	.	W	376	.	ENSP00000438460:R376W	R	+	1	2	FZD10	129214664	0.038000	0.19896	0.092000	0.20876	0.725000	0.41563	-0.798000	0.04565	-0.407000	0.07576	-0.305000	0.09177	CGG		0.642	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			12:130648711
CNTNAP1	8506	broad.mit.edu	37	17	40839935	40839935	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:40839935C>A	ENST00000264638.4	+	8	1459	c.1242C>A	c.(1240-1242)ctC>ctA	p.L414L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	414	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCTGACGCTCAGCGAAGGGC	0.637																																						ENST00000264638.4		NA																	0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1240-1242)ctC>ctA		contactin associated protein 1							58.0	57.0	57.0					17																	40839935		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40839935C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1242C>A	17.37:g.40839935C>A		False	False		Somatic	0				CTD-3193K9.3_ENST00000592440.1_RNA	p.L414L	NM_003632.2	NP_003623.1	WXS	Illumina HiSeq	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	8	1459	+		Breast(137;0.000143)	414			Laminin G-like 2.			Silent	SNP	ENST00000264638.4	37	c.1242C>A	CCDS11436.1																																																																																				0.637	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	0	NM_003632		17:40839935
MRPS14	63931	broad.mit.edu	37	1	174983906	174983906	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:174983906G>A	ENST00000476371.1	-	3	302	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14									p.R96S(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CCACGCGGACGGGACGTCATA	0.522																																						ENST00000476371.1		NA																	1	Substitution - Missense(1)	p.R96S(1)	lung(1)	large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						c.(286-288)Cgt>Tgt		mitochondrial ribosomal protein S14							155.0	143.0	147.0					1																	174983906		2203	4300	6503	SO:0001583	missense	63931				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr1:174983906G>A	AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"""Mitochondrial ribosomal proteins / small subunits"""	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.286C>T	1.37:g.174983906G>A	ENSP00000420714:p.Arg96Cys	True	False		Somatic	0				MRPS14_ENST00000498253.1_5'UTR	p.R96C	NM_022100.2	NP_071383.1	WXS	Illumina HiSeq	Phase_I	O60783	RT14_HUMAN			3	302	-			96						Missense_Mutation	SNP	ENST00000476371.1	37	c.286C>T	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899841	0.91962	.	.	ENSG00000120333	ENST00000476371	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94083	0.7346	9	0.87932	D	0	-16.0916	20.6593	0.99626	0.0:0.0:1.0:0.0	.	96	O60783	RT14_HUMAN	C	96	.	ENSP00000420714:R96C	R	-	1	0	MRPS14	173250529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.365000	0.73090	2.885000	0.99019	0.655000	0.94253	CGT		0.522	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084416.2	0	NM_022100		1:174983906
UGDH	7358	broad.mit.edu	37	4	39512385	39512385	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:39512385T>C	ENST00000316423.6	-	4	703	c.361A>G	c.(361-363)Aat>Gat	p.N121D	UGDH_ENST00000507089.1_Missense_Mutation_p.N24D|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D|UGDH_ENST00000515398.1_5'Flank	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	121					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TTGTACCCATTTGAGTTTTGC	0.433																																						ENST00000316423.6		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(361-363)Aat>Gat		UDP-glucose 6-dehydrogenase	NADH(DB00157)						169.0	157.0	161.0					4																	39512385		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39512385T>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.361A>G	4.37:g.39512385T>C	ENSP00000319501:p.Asn121Asp	True	False		Somatic	0				UGDH_ENST00000507089.1_Missense_Mutation_p.N24D|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D	p.N121D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	WXS	Illumina HiSeq	Phase_I	O60701	UGDH_HUMAN			4	703	-			121					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.361A>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563464	0.45694	.	.	ENSG00000109814	ENST00000316423;ENST00000506179;ENST00000507089;ENST00000515021;ENST00000514106;ENST00000509391	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.95	-0.408	0.12381	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.233858	0.49916	D	0.000133	T	0.53238	0.1784	N	0.17922	0.545	0.37435	D	0.914199	B	0.02656	0.0	B	0.06405	0.002	T	0.41998	-0.9477	10	0.12430	T	0.62	0.1388	11.693	0.51527	0.0828:0.0:0.1465:0.7707	.	121	O60701	UGDH_HUMAN	D	121;121;24;134;121;121	ENSP00000319501:N121D;ENSP00000421757:N121D;ENSP00000426560:N24D;ENSP00000421954:N134D;ENSP00000425834:N121D;ENSP00000422603:N121D	ENSP00000319501:N121D	N	-	1	0	UGDH	39188780	0.994000	0.37717	0.980000	0.43619	0.998000	0.95712	1.356000	0.34079	0.011000	0.14865	0.528000	0.53228	AAT		0.433	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	0	NM_003359		4:39512385
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	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
NANOS2	339345	broad.mit.edu	37	19	46417571	46417571	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46417571G>A	ENST00000341294.2	-	1	465	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	127					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGTTGCGCCCGCTGCGGCGGT	0.667																																						ENST00000341294.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6						c.(379-381)agC>agT		nanos homolog 2 (Drosophila)							28.0	27.0	28.0					19																	46417571		2201	4299	6500	SO:0001819	synonymous_variant	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417571G>A	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.381C>T	19.37:g.46417571G>A		True	False		Somatic	0					p.S127S	NM_001029861.2	NP_001025032.1	WXS	Illumina HiSeq	Phase_I	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	465	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	127					Q17R30|Q4G0P8	Silent	SNP	ENST00000341294.2	37	c.381C>T	CCDS33056.1																																																																																				0.667	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1	0			19:46417571
LYAR	55646	broad.mit.edu	37	4	4276258	4276258	+	Missense_Mutation	SNP	C	C	T	rs201663400		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:4276258C>T	ENST00000343470.4	-	7	908	c.668G>A	c.(667-669)cGc>cAc	p.R223H	LYAR_ENST00000452476.1_Missense_Mutation_p.R223H	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	223	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCTTTTTGCGCTTCTTAGG	0.483																																						ENST00000343470.4		NA																	0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(667-669)cGc>cAc		Ly1 antibody reactive							249.0	236.0	240.0					4																	4276258		2203	4300	6503	SO:0001583	missense	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276258C>T	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.668G>A	4.37:g.4276258C>T	ENSP00000345917:p.Arg223His	False	False		Somatic	0				LYAR_ENST00000452476.1_Missense_Mutation_p.R223H	p.R223H	NM_017816.2	NP_060286	WXS	Illumina HiSeq	Phase_I	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	908	-			223			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	c.668G>A	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	C	7.555	0.663452	0.14710	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.32515	1.45;1.45	5.34	0.47	0.16747	.	0.598136	0.16812	N	0.198485	T	0.12860	0.0312	N	0.08118	0	0.28701	N	0.904077	B	0.33135	0.399	B	0.23275	0.045	T	0.09930	-1.0652	10	0.49607	T	0.09	-1.7228	9.5296	0.39185	0.0:0.6196:0.0:0.3804	.	223	Q9NX58	LYAR_HUMAN	H	223	ENSP00000345917:R223H;ENSP00000397367:R223H	ENSP00000345917:R223H	R	-	2	0	LYAR	4327159	0.491000	0.26019	0.318000	0.25279	0.008000	0.06430	0.021000	0.13489	-0.162000	0.10964	-0.291000	0.09656	CGC		0.483	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	0	NM_017816		4:4276258
SEMA4C	54910	broad.mit.edu	37	2	97527586	97527586	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:97527586C>T	ENST00000305476.5	-	13	1621	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	497	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CAGTCGGCCACGGGCAGCTGC	0.682																																						ENST00000305476.5		NA																	0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1489-1491)Gtg>Atg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							20.0	19.0	19.0					2																	97527586		2201	4298	6499	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527586C>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1489G>A	2.37:g.97527586C>T	ENSP00000306844:p.Val497Met	True	False		Somatic	0					p.V497M	NM_017789.4	NP_060259.4	WXS	Illumina HiSeq	Phase_I	Q9C0C4	SEM4C_HUMAN			13	1621	-			497			Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1489G>A	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906697	0.33628	.	.	ENSG00000168758	ENST00000305476	T	0.36340	1.26	4.93	1.01	0.19927	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.261632	0.33075	N	0.005317	T	0.22085	0.0532	L	0.28649	0.875	0.20489	N	0.999892	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.14868	-1.0457	10	0.52906	T	0.07	.	5.9613	0.19301	0.2318:0.4117:0.3565:0.0	.	497;207	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	M	497	ENSP00000306844:V497M	ENSP00000306844:V497M	V	-	1	0	SEMA4C	96891313	1.000000	0.71417	0.960000	0.40013	0.749000	0.42624	0.770000	0.26618	0.274000	0.22072	-0.232000	0.12228	GTG		0.682	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	0	NM_017789		2:97527586
MAGEE2	139599	broad.mit.edu	37	X	75004797	75004797	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:75004797G>A	ENST00000373359.2	-	1	282	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	30								p.N30N(2)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCGGAGGCGTTAGTAGCTT	0.577																																						ENST00000373359.2		NA																	2	Substitution - coding silent(2)	p.N30N(2)	large_intestine(1)|endometrium(1)	autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(88-90)aaC>aaT		melanoma antigen family E, 2							41.0	33.0	36.0					X																	75004797		2203	4299	6502	SO:0001819	synonymous_variant	139599							g.chrX:75004797G>A	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.90C>T	X.37:g.75004797G>A		False	False		Somatic	0					p.N30N	NM_138703.4	NP_619648.1	WXS	Illumina HiSeq	Phase_I	Q8TD90	MAGE2_HUMAN			1	282	-			30					Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.90C>T	CCDS14431.1																																																																																				0.577	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	0	NM_138703		X:75004797
NDUFA4	4697	broad.mit.edu	37	7	10979646	10979646	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:10979646C>A	ENST00000339600.5	-	1	237	c.39G>T	c.(37-39)ccG>ccT	p.P13P	RP5-855F16.1_ENST00000604183.1_lincRNA|NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	13					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AACTTACGCTCGGATGCTTCT	0.567																																						ENST00000339600.5		NA																	0				large_intestine(2)|lung(1)	3						c.(37-39)ccG>ccT		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	NADH(DB00157)						213.0	187.0	196.0					7																	10979646		2203	4300	6503	SO:0001819	synonymous_variant	4697				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:10979646C>A	U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"""complex I 9kDa subunit"", ""NADH-ubiquinone oxidoreductase MLRQ subunit"""	603833	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"""			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.39G>T	7.37:g.10979646C>A		False	False		Somatic	0				NDUFA4_ENST00000492822.1_5'UTR	p.P13P	NM_002489.3	NP_002480.1	WXS	Illumina HiSeq	Phase_I	O00483	NDUA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	1	237	-			13					A4D109|Q6FHN5	Silent	SNP	ENST00000339600.5	37	c.39G>T	CCDS5357.1																																																																																				0.567	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	0	NM_002489		7:10979646
HERC5	51191	broad.mit.edu	37	4	89414249	89414249	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:89414249G>A	ENST00000264350.3	+	17	2373	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	HERC5_ENST00000508159.1_Silent_p.P378P|AC083829.1_ENST00000408152.2_RNA	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	740	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGATCCAGCCGGAATATGGGA	0.443																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3		NA																	0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(2218-2220)ccG>ccA		HECT and RLD domain containing E3 ubiquitin protein ligase 5							189.0	166.0	174.0					4																	89414249		2203	4300	6503	SO:0001819	synonymous_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89414249G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2220G>A	4.37:g.89414249G>A		False	False		Somatic	0				HERC5_ENST00000508159.1_Silent_p.P378P	p.P740P	NM_016323.3	NP_057407.2	WXS	Illumina HiSeq	Phase_I	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	17	2373	+		Hepatocellular(203;0.114)	740			HECT.		B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	c.2220G>A	CCDS3630.1																																																																																				0.443	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	0	NM_016323		4:89414249
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	355	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000187910.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1063-1065)gCg>gTg		pregnancy specific beta-1-glycoprotein 6							185.0	196.0	192.0					19																	43411250		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411250G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1064C>T	19.37:g.43411250G>A	ENSP00000292125:p.Ala355Val	False	False		Somatic	0				PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	p.A355V	NM_001031850.3	NP_001027020.1	WXS	Illumina HiSeq	Phase_I					5	1129	-		Prostate(69;0.00899)	NA					O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.1064C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		0.448	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	0	NM_002782		19:43411250
SREK1IP1	285672	broad.mit.edu	37	5	64023957	64023957	+	Silent	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:64023957G>T	ENST00000513458.4	-	4	422	c.255C>A	c.(253-255)atC>atA	p.I85I		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	85	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ttttcaatttgattttttctt	0.269																																						ENST00000513458.4		NA																	0				breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						c.(253-255)atC>atA		SREK1-interacting protein 1							17.0	21.0	19.0					5																	64023957		2130	4185	6315	SO:0001819	synonymous_variant	285672				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding	g.chr5:64023957G>T	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.255C>A	5.37:g.64023957G>T		True	False		Somatic	0					p.I85I	NM_173829.3	NP_776190.1	WXS	Illumina HiSeq	Phase_I	Q8N9Q2	SR1IP_HUMAN			4	422	-			85			Lys-rich.		Q32NC8	Silent	SNP	ENST00000513458.4	37	c.255C>A	CCDS34171.1																																																																																				0.269	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	0	NM_173829		5:64023957
BSND	7809	broad.mit.edu	37	1	55470697	55470697	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:55470697C>T	ENST00000371265.4	+	2	434	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	60					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCTTGCAGATCACCTTCGTCC	0.577																																					Ovarian(191;1657 2078 22894 42033 48899)	ENST00000371265.4		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(178-180)atC>atT		Bartter syndrome, infantile, with sensorineural deafness (Barttin)							114.0	94.0	101.0					1																	55470697		2203	4300	6503	SO:0001819	synonymous_variant	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55470697C>T	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.180C>T	1.37:g.55470697C>T		False	False		Somatic	0					p.I60I	NM_057176.2	NP_476517.1	WXS	Illumina HiSeq	Phase_I	Q8WZ55	BSND_HUMAN			2	434	+			60					Q6NT28	Silent	SNP	ENST00000371265.4	37	c.180C>T	CCDS602.1																																																																																				0.577	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	0	NM_057176		1:55470697
SSX9	280660	broad.mit.edu	37	X	48161191	48161191	+	RNA	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:48161191C>T	ENST00000608568.1	-	0	373					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						CATCTGAGAACGTTCAACTGC	0.448																																						ENST00000608568.1		NA																	0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8															127.0	120.0	123.0					X																	48161191		2203	4299	6502			0							g.chrX:48161191C>T	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48161191C>T		False	False		Somatic	0						NR_073393.1		WXS	Illumina HiSeq	Phase_I					0	373	-			NA						RNA	SNP	ENST00000608568.1	37			.	.	.	.	.	.	.	.	.	.	c	1.372	-0.585823	0.03827	.	.	ENSG00000204648	ENST00000376909;ENST00000407081	T;T	0.08720	3.06;3.06	1.21	0.252	0.15545	.	2.729110	0.01808	N	0.033290	T	0.04634	0.0126	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.35001	-0.9806	9	0.13108	T	0.6	.	4.7519	0.13064	0.0:0.4129:0.5871:0.0	.	96	Q7RTT3	SSX9_HUMAN	H	96	ENSP00000366107:R96H;ENSP00000385293:R96H	ENSP00000366107:R96H	R	-	2	0	SSX9	48046135	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-1.059000	0.03479	0.012000	0.14892	0.171000	0.16805	CGT		0.448	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	0	NR_073393		X:48161191
ZNF709	163051	broad.mit.edu	37	19	12575884	12575884	+	Silent	SNP	T	T	C	rs200559980		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:12575884T>C	ENST00000397732.3	-	4	1023	c.852A>G	c.(850-852)caA>caG	p.Q284Q	ZNF709_ENST00000428311.1_Silent_p.Q284Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACATTGCTTACACT	0.373													T|||	1	0.000199681	0.0	0.0	5008	,	,		20833	0.001		0.0	False		,,,				2504	0.0				GBM(33;565 669 12371 29134 51667)	ENST00000397732.3		NA																	0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(850-852)caA>caG		zinc finger protein 709							32.0	34.0	34.0					19																	12575884		2160	4279	6439	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575884T>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.852A>G	19.37:g.12575884T>C		False	False		Somatic	0				ZNF709_ENST00000428311.1_Silent_p.Q284Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q284Q	NM_152601.3	NP_689814.1	WXS	Illumina HiSeq	Phase_I	Q8N972	ZN709_HUMAN			4	1023	-			284					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.852A>G	CCDS42504.1																																																																																				0.373	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	0	NM_152601		19:12575884
UNC79	57578	broad.mit.edu	37	14	94173190	94173190	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:94173190C>A	ENST00000393151.2	+	50	7848	c.7848C>A	c.(7846-7848)ttC>ttA	p.F2616L	UNC79_ENST00000555664.1_Missense_Mutation_p.F2577L|UNC79_ENST00000553484.1_Missense_Mutation_p.F2638L|UNC79_ENST00000256339.4_Missense_Mutation_p.F2439L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2616					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCACTCAGTTCAAAATGGCCC	0.577																																						ENST00000553484.1		NA																	0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7912-7914)ttC>ttA		unc-79 homolog (C. elegans)							73.0	76.0	75.0					14																	94173190		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94173190C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7848C>A	14.37:g.94173190C>A	ENSP00000376858:p.Phe2616Leu	True	False		Somatic	0				UNC79_ENST00000256339.4_Missense_Mutation_p.F2439L|UNC79_ENST00000393151.2_Missense_Mutation_p.F2616L|UNC79_ENST00000555664.1_Missense_Mutation_p.F2577L	p.F2638L			WXS	Illumina HiSeq	Phase_I	Q9P2D8	UNC79_HUMAN			51	8068	+			2616					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7914C>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.350856	0.82132	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.26660	1.72;1.78;1.72;1.72	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.55743	1.74	0.58432	D	0.999999	P	0.48230	0.907	P	0.54026	0.74	T	0.07539	-1.0767	10	0.87932	D	0	-24.3522	11.5318	0.50614	0.0:0.8938:0.0:0.1062	.	2638	C9JQL1	.	L	2439;2577;2638;2616;2638	ENSP00000256339:F2439L;ENSP00000450868:F2577L;ENSP00000451360:F2638L;ENSP00000376858:F2616L	ENSP00000256339:F2439L	F	+	3	2	KIAA1409	93242943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.910000	0.56371	2.894000	0.99253	0.655000	0.94253	TTC		0.577	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	0	XM_028395		14:94173190
SSPO	23145	broad.mit.edu	37	7	149503953	149503953	+	RNA	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:149503953G>T	ENST00000378016.2	+	0	8777							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCCCGGCTGCACCTGCCCC	0.657																																						ENST00000378016.2		NA																	0					NA								SCO-spondin							22.0	30.0	27.0					7																	149503953		1923	4114	6037			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149503953G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149503953G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8777	+	Melanoma(164;0.165)|Ovarian(565;0.177)		NA					Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0			7:149503953
ABCC5	10057	broad.mit.edu	37	3	183663704	183663704	+	Silent	SNP	C	C	A	rs375899840		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:183663704C>A	ENST00000334444.6	-	24	3678	c.3438G>T	c.(3436-3438)acG>acT	p.T1146T	ABCC5_ENST00000265586.6_Silent_p.T1103T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1146	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCAGTCTGACCGTAAACTGGA	0.448																																						ENST00000334444.6		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3436-3438)acG>acT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							238.0	227.0	230.0					3																	183663704		1934	4149	6083	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183663704C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3438G>T	3.37:g.183663704C>A		False	False		Somatic	0				ABCC5_ENST00000265586.6_Silent_p.T1103T	p.T1146T	NM_005688.2	NP_005679.2	WXS	Illumina HiSeq	Phase_I	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		24	3678	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1146			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.3438G>T	CCDS43176.1																																																																																				0.448	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	0	NM_005688		3:183663704
ASS1	445	broad.mit.edu	37	9	133355188	133355188	+	Splice_Site	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:133355188G>A	ENST00000372394.1	+	11	1254		c.e11+1		ASS1_ENST00000352480.5_Splice_Site|ASS1_ENST00000493984.2_Splice_Site|ASS1_ENST00000372393.3_Splice_Site			P00966	ASSY_HUMAN	argininosuccinate synthase 1						acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ACGAAGTCGCGTGAGTGTCTG	0.617																																						ENST00000372394.1		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.e11+1		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						71.0	62.0	65.0					9																	133355188		2203	4300	6503	SO:0001630	splice_region_variant	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133355188G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.773+1G>A	9.37:g.133355188G>A		False	False		Somatic	0				ASS1_ENST00000352480.5_Splice_Site|ASS1_ENST00000493984.2_Splice_Site|ASS1_ENST00000372393.3_Splice_Site				WXS	Illumina HiSeq	Phase_I	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	11	1254	+			NA					Q6LDL2|Q86UZ0|Q96GT4	Splice_Site	SNP	ENST00000372394.1	37		CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686809	0.14973	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0774	0.86590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASS1	132345009	1.000000	0.71417	0.999000	0.59377	0.096000	0.18686	8.569000	0.90744	2.270000	0.75569	0.467000	0.42956	.		0.617	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	0	NM_000050	Intron	9:133355188
PCDH15	65217	broad.mit.edu	37	10	55849770	55849770	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:55849770A>G	ENST00000320301.6	-	16	2365	c.1971T>C	c.(1969-1971)ccT>ccC	p.P657P	PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000373965.2_Silent_p.P664P|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000414778.1_Silent_p.P662P|PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P620P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Silent_p.P635P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAACTCTCTGAGGATCTCCAT	0.338										HNSCC(58;0.16)																												ENST00000373965.2		NA																	0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1990-1992)ccT>ccC		protocadherin-related 15							64.0	66.0	66.0					10																	55849770		2203	4298	6501	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55849770A>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1971T>C	10.37:g.55849770A>G		False	False	HNSCC(58;0.16)	Somatic	0				PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000414778.1_Silent_p.P662P|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000395432.2_Silent_p.P620P|PCDH15_ENST00000320301.6_Silent_p.P657P|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Silent_p.P635P	p.P664P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina HiSeq	Phase_I	Q96QU1	PCD15_HUMAN			17	2386	-		Melanoma(3;0.117)|Lung SC(717;0.238)	657			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.1992T>C	CCDS7248.1																																																																																				0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	0	NM_033056		10:55849770
MCU	90550	broad.mit.edu	37	10	74631317	74631317	+	Silent	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:74631317A>T	ENST00000373053.3	+	6	861	c.840A>T	c.(838-840)gcA>gcT	p.A280A	MCU_ENST00000536019.1_Silent_p.A231A|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000357157.6_Silent_p.A259A	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	280					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CAATGTATGCATATTTTGTAA	0.378																																						ENST00000536019.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(691-693)gcA>gcT		mitochondrial calcium uniporter							103.0	97.0	99.0					10																	74631317		2203	4300	6503	SO:0001819	synonymous_variant	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74631317A>T	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.840A>T	10.37:g.74631317A>T		False	False		Somatic	0				MCU_ENST00000357157.6_Silent_p.A259A|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Silent_p.A280A	p.A231A	NM_001270680.1	NP_001257609.1	WXS	Illumina HiSeq	Phase_I	Q8NE86	MCU_HUMAN			6	1138	+			280					B2RDF3|B3KXV7|Q96FL3	Silent	SNP	ENST00000373053.3	37	c.693A>T	CCDS7317.1																																																																																				0.378	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	0	NM_138357		10:74631317
PPFIA1	8500	broad.mit.edu	37	11	70171012	70171012	+	Silent	SNP	C	C	A	rs144282210		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:70171012C>A	ENST00000253925.7	+	4	641	c.426C>A	c.(424-426)acC>acA	p.T142T	PPFIA1_ENST00000389547.3_Silent_p.T142T|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	142					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.T142T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTAGGATGACCGTGGTGAAGA	0.473																																						ENST00000253925.7		NA																	1	Substitution - coding silent(1)	p.T142T(1)	lung(1)	breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(424-426)acC>acA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							132.0	137.0	135.0					11																	70171012		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171012C>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.426C>A	11.37:g.70171012C>A		False	False		Somatic	0				CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T142T|AP000487.6_ENST00000528607.1_RNA	p.T142T	NM_003626.3	NP_003617.1	WXS	Illumina HiSeq	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		4	641	+			142					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.426C>A	CCDS31627.1																																																																																				0.473	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	0	NM_003626		11:70171012
GPC4	2239	broad.mit.edu	37	X	132445300	132445300	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:132445300C>A	ENST00000370828.3	-	4	1387	c.863G>T	c.(862-864)tGg>tTg	p.W288L	GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	288					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GAAATTGTTCCATTCAAAATC	0.443																																						ENST00000370828.3		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(862-864)tGg>tTg		glypican 4							154.0	140.0	145.0					X																	132445300		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132445300C>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.863G>T	X.37:g.132445300C>A	ENSP00000359864:p.Trp288Leu	False	False		Somatic	0				GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	p.W288L	NM_001448.2	NP_001439.2	WXS	Illumina HiSeq	Phase_I	O75487	GPC4_HUMAN			4	1387	-	Acute lymphoblastic leukemia(192;0.000127)		288					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.863G>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763050	0.89932	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.80566	-1.39;-1.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.90082	3.085	0.80722	D	1	D	0.63880	0.993	D	0.69142	0.962	D	0.93066	0.6478	10	0.87932	D	0	-19.8545	17.5641	0.87914	0.0:1.0:0.0:0.0	.	288	O75487	GPC4_HUMAN	L	288;282;218	ENSP00000359864:W288L;ENSP00000444959:W218L	ENSP00000359864:W288L	W	-	2	0	GPC4	132272966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.754000	0.85163	2.363000	0.80096	0.600000	0.82982	TGG		0.443	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	0	NM_001448		X:132445300
DDB1	1642	broad.mit.edu	37	11	61083828	61083828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:61083828C>A	ENST00000301764.7	-	12	1736	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	447	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCATCAGTTCGGTTTCTTCT	0.517								Nucleotide excision repair (NER)																														ENST00000301764.7		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1339-1341)Gaa>Taa	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							196.0	180.0	185.0					11																	61083828		2203	4299	6502	SO:0001587	stop_gained	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61083828C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1339G>T	11.37:g.61083828C>A	ENSP00000301764:p.Glu447*	False	False		Somatic	0				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.E447*	NM_001923.4	NP_001914.3	WXS	Illumina HiSeq	Phase_I	Q16531	DDB1_HUMAN			12	1736	-			447			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Nonsense_Mutation	SNP	ENST00000301764.7	37	c.1339G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	42	9.381356	0.99155	.	.	ENSG00000167986	ENST00000301764;ENST00000537877;ENST00000535967;ENST00000539739;ENST00000535174	.	.	.	5.35	5.35	0.76521	.	0.046308	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-16.5751	19.0687	0.93123	0.0:1.0:0.0:0.0	.	.	.	.	X	447;11;98;166;230	.	ENSP00000301764:E447X	E	-	1	0	DDB1	60840404	1.000000	0.71417	0.893000	0.35052	0.968000	0.65278	7.797000	0.85911	2.522000	0.85027	0.655000	0.94253	GAA		0.517	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	0	NM_001923		11:61083828
SAMD9L	219285	broad.mit.edu	37	7	92764937	92764937	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:92764937T>C	ENST00000318238.4	-	5	1564	c.348A>G	c.(346-348)tcA>tcG	p.S116S	SAMD9L_ENST00000411955.1_Silent_p.S116S|SAMD9L_ENST00000437805.1_Silent_p.S116S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	116					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAATATTAGATGACATTGAAT	0.323																																						ENST00000318238.4		NA																	0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(346-348)tcA>tcG		sterile alpha motif domain containing 9-like							107.0	118.0	114.0					7																	92764937		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92764937T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.348A>G	7.37:g.92764937T>C		False	False		Somatic	0				SAMD9L_ENST00000437805.1_Silent_p.S116S|SAMD9L_ENST00000411955.1_Silent_p.S116S	p.S116S	NM_152703.2	NP_689916.2	WXS	Illumina HiSeq	Phase_I	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	1564	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		116					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.348A>G	CCDS34681.1																																																																																				0.323	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	0	NM_152703		7:92764937
PCDHA2	56146	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																						ENST00000526136.1		NA																	0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1489-1491)Cgg>Tgg									53.0	57.0	56.0					5																	140176038		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176038C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1489C>T	5.37:g.140176038C>T	ENSP00000431748:p.Arg497Trp	False	False		Somatic	0				PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W	p.R497W	NM_018905.2	NP_061728.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+			NA					O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1489C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149674	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52295	0.67;0.67;0.67	4.05	2.03	0.26663	Cadherin (4);Cadherin-like (1);	0.194082	0.23035	U	0.052684	T	0.58018	0.2093	M	0.63208	1.945	0.24455	N	0.994467	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.959;0.986;0.959	T	0.44620	-0.9316	10	0.87932	D	0	.	4.5007	0.11863	0.3983:0.4929:0.0:0.1087	.	497;497;497	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	497	ENSP00000430584:R497W;ENSP00000367372:R497W;ENSP00000431748:R497W	ENSP00000367372:R497W	R	+	1	2	PCDHA2	140156222	0.000000	0.05858	0.998000	0.56505	0.939000	0.58152	-0.526000	0.06207	0.812000	0.34326	-0.195000	0.12781	CGG		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	0	NM_018905		5:140176038
ZNF350	59348	broad.mit.edu	37	19	52469393	52469393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52469393C>A	ENST00000243644.4	-	5	540	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	105					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GCATCATGTTCATGACATGGT	0.363																																						ENST00000243644.4		NA																	0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(313-315)Gaa>Taa		zinc finger protein 350							70.0	71.0	71.0					19																	52469393		2203	4299	6502	SO:0001587	stop_gained	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52469393C>A	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.313G>T	19.37:g.52469393C>A	ENSP00000243644:p.Glu105*	False	False		Somatic	0				HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	p.E105*	NM_021632.3	NP_067645.3	WXS	Illumina HiSeq	Phase_I	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	540	-		all_neural(266;0.0505)	105					Q96G73|Q9HAQ4	Nonsense_Mutation	SNP	ENST00000243644.4	37	c.313G>T	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054148	0.55218	.	.	ENSG00000256683	ENST00000243644	.	.	.	3.25	-3.54	0.04653	.	0.733993	0.11162	N	0.592957	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	4.1621	0.10289	0.0:0.3024:0.19:0.5075	.	.	.	.	X	105	.	ENSP00000243644:E105X	E	-	1	0	ZNF350	57161205	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.533000	0.06157	-0.395000	0.07715	-0.142000	0.14014	GAA		0.363	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	0	NM_021632		19:52469393
INA	9118	broad.mit.edu	37	10	105037160	105037160	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:105037160G>A	ENST00000369849.4	+	1	241	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	64	Head.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCCTCGGCCTGGCCTATCGCC	0.741																																						ENST00000369849.4		NA																	0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(190-192)ctG>ctA		internexin neuronal intermediate filament protein, alpha							8.0	10.0	9.0					10																	105037160		1987	4030	6017	SO:0001819	synonymous_variant	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037160G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.192G>A	10.37:g.105037160G>A		True	False		Somatic	0					p.L64L	NM_032727.3	NP_116116.1	WXS	Illumina HiSeq	Phase_I	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	241	+			64			Head.		B1AQK0|Q9BRC5	Silent	SNP	ENST00000369849.4	37	c.192G>A	CCDS7545.1																																																																																				0.741	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	0	NM_032727		10:105037160
MRPS27	23107	broad.mit.edu	37	5	71533926	71533926	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:71533926A>G	ENST00000261413.5	-	5	350	c.311T>C	c.(310-312)cTg>cCg	p.L104P	MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P|MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P|MRPS27_ENST00000522562.1_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	104						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CCAGTTTCTCAGGTACCAGCA	0.413																																						ENST00000261413.5		NA																	0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(310-312)cTg>cCg		mitochondrial ribosomal protein S27							103.0	92.0	96.0					5																	71533926		2203	4300	6503	SO:0001583	missense	23107					mitochondrion|ribosome		g.chr5:71533926A>G	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.311T>C	5.37:g.71533926A>G	ENSP00000261413:p.Leu104Pro	False	False		Somatic	0				MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P|MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P	p.L104P	NM_015084.2	NP_055899.2	WXS	Illumina HiSeq	Phase_I	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	5	350	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	104					B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	c.311T>C	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518352	0.85495	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.75657	0.3879	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.79317	-0.1853	10	0.87932	D	0	-18.2091	15.0979	0.72250	1.0:0.0:0.0:0.0	.	118;48;104	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	P	104;48;118;48;48	ENSP00000261413:L104P;ENSP00000428120:L48P;ENSP00000426941:L118P;ENSP00000426176:L48P;ENSP00000427237:L48P	ENSP00000261413:L104P	L	-	2	0	MRPS27	71569682	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.771000	0.91751	1.970000	0.57323	0.374000	0.22700	CTG		0.413	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	0	NM_015084		5:71533926
NKX2-5	1482	broad.mit.edu	37	5	172660081	172660081	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:172660081G>A	ENST00000329198.4	-	2	739	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	NKX2-5_ENST00000521848.1_3'UTR|NKX2-5_ENST00000424406.2_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	156					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTGAAGCGCCGCTCCAGC	0.677																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	ENST00000329198.4		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12						c.(466-468)Cgc>Tgc		NK2 homeobox 5							16.0	14.0	15.0					5																	172660081		2203	4296	6499	SO:0001583	missense	0				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172660081G>A	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.466C>T	5.37:g.172660081G>A	ENSP00000327758:p.Arg156Cys	False	False		Somatic	0				NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	p.R156C	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	WXS	Illumina HiSeq	Phase_I	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	739	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	156					A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	c.466C>T	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038907	0.75617	.	.	ENSG00000183072	ENST00000329198	D	0.96136	-3.92	4.12	3.16	0.36331	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.52532	D	0.000063	D	0.96589	0.8887	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96214	0.9155	10	0.87932	D	0	.	11.6702	0.51396	0.0:0.0:0.7125:0.2875	.	156	P52952	NKX25_HUMAN	C	156	ENSP00000327758:R156C	ENSP00000327758:R156C	R	-	1	0	NKX2-5	172592687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.303000	0.51858	2.307000	0.77673	0.462000	0.41574	CGC		0.677	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2	0			5:172660081
ZNF585B	92285	broad.mit.edu	37	19	37677796	37677796	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:37677796C>T	ENST00000532828.2	-	5	894	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|ZNF585B_ENST00000527838.1_Silent_p.*158*|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACTACATTCATATAGTTTT	0.388																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2		NA																	0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(643-645)Gaa>Aaa		zinc finger protein 585B							112.0	113.0	113.0					19																	37677796		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677796C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.643G>A	19.37:g.37677796C>T	ENSP00000433773:p.Glu215Lys	False	False		Somatic	0				CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|ZNF585B_ENST00000527838.1_Silent_p.*158*|ZNF585B_ENST00000312908.5_5'UTR	p.E215K	NM_152279.3	NP_689492.3	WXS	Illumina HiSeq	Phase_I	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	894	-			215					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.643G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	0.207	-1.040081	0.02013	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19250	2.16;2.16	2.78	0.507	0.16967	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.683944	0.12041	N	0.505100	T	0.06280	0.0162	N	0.04148	-0.265	0.09310	N	0.999998	B;B	0.14438	0.006;0.01	B;B	0.12156	0.007;0.007	T	0.37267	-0.9713	10	0.08599	T	0.76	.	0.6148	0.00767	0.1968:0.3698:0.1925:0.2409	.	160;215	E9PQH3;Q52M93	.;Z585B_HUMAN	K	160;215	ENSP00000436774:E160K;ENSP00000433773:E215K	ENSP00000436774:E160K	E	-	1	0	ZNF585B	42369636	0.000000	0.05858	0.080000	0.20451	0.159000	0.22180	-2.725000	0.00808	0.069000	0.16605	-0.384000	0.06662	GAA		0.388	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	0	NM_152279		19:37677796
RPS6KA6	27330	broad.mit.edu	37	X	83362013	83362013	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:83362013G>C	ENST00000262752.2	-	14	1154	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	383	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTGAAGAGCTGATGAGCATTT	0.343																																						ENST00000262752.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1147-1149)Cag>Gag		ribosomal protein S6 kinase, 90kDa, polypeptide 6							72.0	66.0	68.0					X																	83362013		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83362013G>C	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1147C>G	X.37:g.83362013G>C	ENSP00000262752:p.Gln383Glu	False	False		Somatic	0				RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E	p.Q383E	NM_014496.4	NP_055311.1	WXS	Illumina HiSeq	Phase_I	Q9UK32	KS6A6_HUMAN			14	1154	-			383			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1147C>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280893	0.23392	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.50548	0.74;0.74	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.115806	0.64402	D	0.000014	T	0.26738	0.0654	N	0.04148	-0.265	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.18263	0.021;0.015	T	0.12243	-1.0555	10	0.09843	T	0.71	.	17.563	0.87912	0.0:0.0:1.0:0.0	.	383;383	B7ZL90;Q9UK32	.;KS6A6_HUMAN	E	383	ENSP00000262752:Q383E;ENSP00000440830:Q383E	ENSP00000262752:Q383E	Q	-	1	0	RPS6KA6	83248669	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.577000	0.82486	2.162000	0.67917	0.600000	0.82982	CAG		0.343	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	0	NM_014496		X:83362013
GNB1L	54584	broad.mit.edu	37	22	19794255	19794255	+	Missense_Mutation	SNP	T	T	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19794255T>A	ENST00000329517.6	-	6	679	c.443A>T	c.(442-444)aAg>aTg	p.K148M	GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M|GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	148					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CACTGACGTCTTGGAGGGCAT	0.572																																						ENST00000329517.6		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(442-444)aAg>aTg		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							54.0	44.0	47.0					22																	19794255		2203	4300	6503	SO:0001583	missense	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19794255T>A	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.443A>T	22.37:g.19794255T>A	ENSP00000331313:p.Lys148Met	False	False		Somatic	0				GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M	p.K148M	NM_053004.2	NP_443730.1	WXS	Illumina HiSeq	Phase_I	Q9BYB4	GNB1L_HUMAN			6	679	-	Colorectal(54;0.0993)		148					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.443A>T	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640031	0.87760	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.40756	1.02;1.02;5.0	5.21	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.128959	0.50627	U	0.000116	T	0.52273	0.1724	M	0.77103	2.36	0.49299	D	0.999779	D	0.56746	0.977	P	0.49887	0.625	T	0.57774	-0.7753	10	0.87932	D	0	-3.2795	11.353	0.49598	0.1361:0.0:0.0:0.8639	.	148	Q9BYB4	GNB1L_HUMAN	M	148	ENSP00000331313:K148M;ENSP00000385154:K148M;ENSP00000384626:K148M	ENSP00000331313:K148M	K	-	2	0	GNB1L	18174255	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.204000	0.65180	0.798000	0.33994	-0.333000	0.08304	AAG		0.572	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1	0			22:19794255
MAGEB6	158809	broad.mit.edu	37	X	26213024	26213024	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:26213024G>A	ENST00000379034.1	+	2	1210	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	354	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GATCCTCCATGCTATGAGTTC	0.498																																						ENST00000379034.1		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(1060-1062)tGc>tAc		melanoma antigen family B, 6							66.0	64.0	64.0					X																	26213024		2202	4292	6494	SO:0001583	missense	158809							g.chrX:26213024G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1061G>A	X.37:g.26213024G>A	ENSP00000368320:p.Cys354Tyr	False	False		Somatic	0					p.C354Y	NM_173523.2	NP_775794.2	WXS	Illumina HiSeq	Phase_I	Q8N7X4	MAGB6_HUMAN			2	1210	+			354			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1061G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	5.430	0.264533	0.10294	.	.	ENSG00000176746	ENST00000379034	T	0.04706	3.57	3.29	-2.14	0.07123	.	0.617794	0.14414	U	0.321058	T	0.04770	0.0129	M	0.66439	2.03	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.49881	-0.8892	10	0.08381	T	0.77	.	5.8566	0.18722	0.2283:0.511:0.2607:0.0	.	354	Q8N7X4	MAGB6_HUMAN	Y	354	ENSP00000368320:C354Y	ENSP00000368320:C354Y	C	+	2	0	MAGEB6	26122945	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.416000	0.02467	-0.702000	0.05056	-0.957000	0.02645	TGC		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	0	NM_173523		X:26213024
ZNF208	7757	broad.mit.edu	37	19	22171676	22171676	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:22171676G>T	ENST00000397126.4	-	2	187	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L|ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L|ZNF208_ENST00000597040.1_5'UTR	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTCCAGAGAGAATTCTATGG	0.408																																						ENST00000397126.4		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(37-39)ttC>ttA		zinc finger protein 208							121.0	131.0	128.0					19																	22171676		2203	4300	6503	SO:0001583	missense	7757							g.chr19:22171676G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.39C>A	19.37:g.22171676G>T	ENSP00000380315:p.Phe13Leu	True	False		Somatic	0				ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L|ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L	p.F13L	NM_007153.3	NP_009084.2	WXS	Illumina HiSeq	Phase_I					2	187	-		all_lung(12;0.0961)|Lung NSC(12;0.103)	NA						Missense_Mutation	SNP	ENST00000397126.4	37	c.39C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805557	0.31961	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.12879	2.64	1.32	-0.37	0.12530	Krueppel-associated box (4);	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	D;B	0.57571	0.98;0.087	P;B	0.60012	0.867;0.084	T	0.12785	-1.0534	8	0.72032	D	0.01	.	3.7697	0.08636	0.0:0.0:0.5735:0.4265	.	13;13	O43345;F8WEA0	ZN208_HUMAN;.	L	13	ENSP00000380315:F13L	ENSP00000380315:F13L	F	-	3	2	ZNF208	21963516	0.005000	0.15991	0.009000	0.14445	0.601000	0.36947	-0.135000	0.10420	0.636000	0.30508	0.281000	0.19383	TTC		0.408	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	0	NM_007153		19:22171676
RNF43	54894	broad.mit.edu	37	17	56448366	56448366	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56448366C>A	ENST00000584437.1	-	2	2236	c.281G>T	c.(280-282)aGt>aTt	p.S94I	RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000583753.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	94					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCGTCATCACTGGCATTGCA	0.582																																						ENST00000584437.1		NA																	0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(280-282)aGt>aTt		ring finger protein 43							86.0	71.0	76.0					17																	56448366		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56448366C>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.281G>T	17.37:g.56448366C>A	ENSP00000463069:p.Ser94Ile	False	False		Somatic	0				RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000577625.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA	p.S94I			WXS	Illumina HiSeq	Phase_I	Q68DV7	RNF43_HUMAN			2	2236	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		94					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.281G>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006071	0.93287	.	.	ENSG00000108375	ENST00000407977	T	0.47177	0.85	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.27053	0.805	0.80722	D	1	D	0.57257	0.979	P	0.60415	0.874	T	0.41787	-0.9489	10	0.22706	T	0.39	-22.6639	18.2765	0.90085	0.0:1.0:0.0:0.0	.	94	Q68DV7	RNF43_HUMAN	I	94	ENSP00000385328:S94I	ENSP00000385328:S94I	S	-	2	0	RNF43	53803365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.495000	0.73665	2.555000	0.86185	0.655000	0.94253	AGT		0.582	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	0	NM_017763		17:56448366
PCDHA9	9752	broad.mit.edu	37	5	140229544	140229544	+	Silent	SNP	C	C	G	rs527334652	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140229544C>G	ENST00000532602.1	+	1	2497	c.1464C>G	c.(1462-1464)gcC>gcG	p.A488A	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A488A|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACGCCCTGGTGTCCT	0.667													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)	ENST00000378122.3		NA																	0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1462-1464)gcC>gcG																																						SO:0001819	synonymous_variant	0							g.chr5:140229544C>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1464C>G	5.37:g.140229544C>G		True	False		Somatic	0				PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A488A|PCDHA6_ENST00000529310.1_Intron	p.A488A	NM_014005.3	NP_054724.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2188	+			NA					O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1464C>G	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	0	NM_031857		5:140229544
SLC6A1	6529	broad.mit.edu	37	3	11058924	11058924	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:11058924C>T	ENST00000287766.4	+	3	448	c.27C>T	c.(25-27)gcC>gcT	p.A9A	SLC6A1_ENST00000536032.1_5'UTR|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000462473.1_3'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	9					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)	GCAAGGTGGCCGACGGGCAGA	0.632																																						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.(25-27)gcC>gcT		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						46.0	43.0	44.0					3																	11058924		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.chr3:11058924C>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.27C>T	3.37:g.11058924C>T		False	False		Somatic	0				SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_5'UTR|SLC6A1_ENST00000462473.1_3'UTR	p.A9A	NM_003042.3	NP_003033.3	WXS	Illumina HiSeq	Phase_I	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	3	448	+		Ovarian(110;0.0392)	9					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.27C>T	CCDS2603.1																																																																																				0.632	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	0	NM_003042		3:11058924
ANKRD2	26287	broad.mit.edu	37	10	99338074	99338074	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:99338074C>A	ENST00000307518.5	+	3	615	c.348C>A	c.(346-348)atC>atA	p.I116I	ANKRD2_ENST00000370655.1_Silent_p.I89I|ANKRD2_ENST00000298808.5_Silent_p.I116I|ANKRD2_ENST00000455090.1_Silent_p.I89I			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	116	May mediate interaction with PML, p53/TP53 and YBX1.				muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		AGAACCTCATCGAGCTGCGGA	0.662																																						ENST00000307518.5		NA																	0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(346-348)atC>atA		ankyrin repeat domain 2 (stretch responsive muscle)							31.0	31.0	31.0					10																	99338074		2203	4300	6503	SO:0001819	synonymous_variant	26287				muscle contraction|muscle organ development		structural constituent of muscle	g.chr10:99338074C>A	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.348C>A	10.37:g.99338074C>A		False	False		Somatic	0				ANKRD2_ENST00000455090.1_Silent_p.I89I|ANKRD2_ENST00000298808.5_Silent_p.I116I|ANKRD2_ENST00000370655.1_Silent_p.I89I	p.I116I			WXS	Illumina HiSeq	Phase_I	Q9GZV1	ANKR2_HUMAN		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)	3	615	+		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)	116					Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	ENST00000307518.5	37	c.348C>A	CCDS7466.1																																																																																				0.662	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			10:99338074
MKI67	4288	broad.mit.edu	37	10	129905212	129905212	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:129905212C>T	ENST00000368654.3	-	13	5267	c.4892G>A	c.(4891-4893)cGa>cAa	p.R1631Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1631	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTGAGCCGTCGCTTGGAGCT	0.502																																						ENST00000368654.3		NA																	0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4891-4893)cGa>cAa		marker of proliferation Ki-67							218.0	218.0	218.0					10																	129905212		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905212C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4892G>A	10.37:g.129905212C>T	ENSP00000357643:p.Arg1631Gln	False	False		Somatic	0				MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	p.R1631Q	NM_002417.4	NP_002408.3	WXS	Illumina HiSeq	Phase_I	P46013	KI67_HUMAN			13	5267	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1631			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4892G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912034	0.17907	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03152	4.03;4.03	2.6	0.628	0.17681	.	0.461817	0.16195	N	0.225197	T	0.02230	0.0069	L	0.34521	1.04	0.09310	N	1	B;P;B	0.34562	0.053;0.457;0.275	B;B;B	0.22753	0.007;0.041;0.033	T	0.47355	-0.9124	10	0.25751	T	0.34	.	4.3863	0.11318	0.0:0.5705:0.1925:0.237	.	1630;1271;1631	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1631;1271;1630	ENSP00000357643:R1631Q;ENSP00000357642:R1271Q	ENSP00000357642:R1271Q	R	-	2	0	MKI67	129795202	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.262000	0.32992	0.166000	0.19597	-0.244000	0.11960	CGA		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	NM_002417		10:129905212
OR10G9	219870	broad.mit.edu	37	11	123894641	123894641	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:123894641T>C	ENST00000375024.1	+	1	922	c.922T>C	c.(922-924)Tct>Cct	p.S308P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTAGCACATTCTCAGGGAGA	0.358																																						ENST00000375024.1		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(922-924)Tct>Cct		olfactory receptor, family 10, subfamily G, member 9							71.0	68.0	69.0					11																	123894641		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894641T>C	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.922T>C	11.37:g.123894641T>C	ENSP00000364164:p.Ser308Pro	False	False		Somatic	0					p.S308P	NM_001001953.1	NP_001001953.1	WXS	Illumina HiSeq	Phase_I	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	922	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	308						Missense_Mutation	SNP	ENST00000375024.1	37	c.922T>C	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	T	5.525	0.281841	0.10458	.	.	ENSG00000236981	ENST00000375024	T	0.05382	3.45	3.48	2.33	0.28932	.	0.684276	0.12078	N	0.501557	T	0.04497	0.0123	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44236	-0.9341	10	0.24483	T	0.36	.	8.861	0.35258	0.0:0.0:0.2124:0.7876	.	308	Q8NGN4	O10G9_HUMAN	P	308	ENSP00000364164:S308P	ENSP00000364164:S308P	S	+	1	0	OR10G9	123399851	0.000000	0.05858	0.012000	0.15200	0.028000	0.11728	0.227000	0.17795	0.514000	0.28300	0.533000	0.62120	TCT		0.358	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	0	NM_001001953		11:123894641
CACNA1D	776	broad.mit.edu	37	3	53736723	53736723	+	Missense_Mutation	SNP	C	C	T	rs554225579		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:53736723C>T	ENST00000350061.5	+	9	1787	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	CACNA1D_ENST00000288139.4_Missense_Mutation_p.R426W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R426W	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	426					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGAAGCTCCGGGAGAAGCA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20930	0.0		0.0	False		,,,				2504	0.0					ENST00000288139.4		NA																	0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1276-1278)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						65.0	67.0	66.0					3																	53736723		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53736723C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1276C>T	3.37:g.53736723C>T	ENSP00000288133:p.Arg426Trp	True	False		Somatic	0				CACNA1D_ENST00000350061.5_Missense_Mutation_p.R426W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R426W	p.R426W	NM_000720.2	NP_000711.1	WXS	Illumina HiSeq	Phase_I	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	9	1394	+			NA					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1276C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706827	0.89018	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.39	5.39	0.77823	.	0.075737	0.53938	D	0.000056	D	0.98473	0.9491	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.999;0.999	D	0.99007	1.0813	10	0.87932	D	0	.	14.2225	0.65836	0.149:0.8509:0.0:0.0	.	426;99;426;426	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	W	426;426;426;99	ENSP00000288133:R426W;ENSP00000288139:R426W;ENSP00000409174:R426W;ENSP00000418014:R99W	ENSP00000288139:R426W	R	+	1	2	CACNA1D	53711763	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.818000	0.69236	2.804000	0.96469	0.655000	0.94253	CGG		0.512	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	0	NM_000720		3:53736723
BCOR	54880	broad.mit.edu	37	X	39922163	39922163	+	Missense_Mutation	SNP	C	C	T	rs370685925		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39922163C>T	ENST00000378444.4	-	9	4237	c.4009G>A	c.(4009-4011)Gaa>Aaa	p.E1337K	BCOR_ENST00000378463.1_Missense_Mutation_p.E180K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000342274.4_Missense_Mutation_p.E1303K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTCTTCTTCGTCTGCACAC	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4		NA		Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3907-3909)Gaa>Aaa		BCL6 corepressor		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,3833		0,0,0,1631,571	141.0	112.0	121.0		3907,3853,4009,3907	5.7	0.3	X		121	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	56,56,56,56	0,0,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1303/1722,1285/1704,1337/1756,1303/1722	39922163	1,10560	2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922163C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4009G>A	X.37:g.39922163C>T	ENSP00000367705:p.Glu1337Lys	False	False		Somatic	0				BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1337K|BCOR_ENST00000378463.1_Missense_Mutation_p.E180K	p.E1303K	NM_001123383.1	NP_001116855.1	WXS	Illumina HiSeq	Phase_I	Q6W2J9	BCOR_HUMAN			9	4269	-			1337					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3907G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518746	0.85495	0.0	1.49E-4	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	T;T;T;T;T;T;T	0.70516	-0.42;0.97;1.0;0.98;0.93;0.98;-0.49	5.67	5.67	0.87782	.	.	.	.	.	T	0.75845	0.3905	N	0.19112	0.55	0.53005	D	0.999965	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.78314	0.951;0.991;0.896	T	0.78889	-0.2026	9	0.56958	D	0.05	-10.0684	18.7655	0.91871	0.0:1.0:0.0:0.0	.	1285;1337;1303	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	K	207;180;1285;1303;1337;1303;10	ENSP00000408006:E207K;ENSP00000367724:E180K;ENSP00000367716:E1285K;ENSP00000380512:E1303K;ENSP00000367705:E1337K;ENSP00000345923:E1303K;ENSP00000387552:E10K	ENSP00000345923:E1303K	E	-	1	0	BCOR	39807107	1.000000	0.71417	0.350000	0.25708	0.966000	0.64601	3.518000	0.53451	2.376000	0.81061	0.600000	0.82982	GAA		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	0	NM_017745		X:39922163
KSR2	283455	broad.mit.edu	37	12	118405988	118405988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:118405988C>A	ENST00000339824.5	-	1	800	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	KSR2_ENST00000425217.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	25					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGACCAGTTCGCACTGCTGT	0.507																																						ENST00000339824.5		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(73-75)Gaa>Taa		kinase suppressor of ras 2							192.0	170.0	177.0					12																	118405988		1568	3582	5150	SO:0001587	stop_gained	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118405988C>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.73G>T	12.37:g.118405988C>A	ENSP00000339952:p.Glu25*	False	False		Somatic	0				KSR2_ENST00000425217.1_5'UTR	p.E25*			WXS	Illumina HiSeq	Phase_I	Q6VAB6	KSR2_HUMAN			1	800	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		25					A0PJT2|Q3B828|Q8N775	Nonsense_Mutation	SNP	ENST00000339824.5	37	c.73G>T		.	.	.	.	.	.	.	.	.	.	C	46	12.515743	0.99674	.	.	ENSG00000171435	ENST00000339824	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.2228	0.73327	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000339952:E25X	E	-	1	0	KSR2	116890371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.802000	0.75175	2.158000	0.67659	0.491000	0.48974	GAA		0.507	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	0	NM_173598		12:118405988
RAB3GAP2	25782	broad.mit.edu	37	1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	rs151225064	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493																																						ENST00000358951.2		NA																	1	Substitution - Missense(1)	p.A469V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1405-1407)gCg>gTg		RAB3 GTPase activating protein subunit 2 (non-catalytic)		G	VAL/ALA	0,4406		0,0,2203	137.0	134.0	135.0		1406	5.7	0.9	1	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAB3GAP2	NM_012414.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	469/1394	220364491	2,13004	2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364491G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1406C>T	1.37:g.220364491G>A	ENSP00000351832:p.Ala469Val	False	False		Somatic	0					p.A469V	NM_012414.3	NP_036546.2	WXS	Illumina HiSeq	Phase_I	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1522	-			469					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1406C>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508939	0.96386	0.0	2.33E-4	ENSG00000118873	ENST00000358951	D	0.90444	-2.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94568	0.7768	10	0.56958	D	0.05	.	19.7176	0.96129	0.0:0.0:1.0:0.0	.	469	Q9H2M9	RBGPR_HUMAN	V	469	ENSP00000351832:A469V	ENSP00000351832:A469V	A	-	2	0	RAB3GAP2	218431114	1.000000	0.71417	0.907000	0.35723	0.936000	0.57629	9.090000	0.94144	2.670000	0.90874	0.563000	0.77884	GCG		0.493	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	0	NM_012414		1:220364491
OR1F2P	26184	broad.mit.edu	37	16	3265988	3265988	+	RNA	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:3265988C>T	ENST00000576468.1	+	0	418																											TCGCCGTGTGCCGCCCCTTAC	0.532																																						ENST00000576468.1		NA																	0					NA																																														0							g.chr16:3265988C>T																													16.37:g.3265988C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	418	+			NA						RNA	SNP	ENST00000576468.1	37																																																																																						0.532	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1	0			16:3265988
NIPA1	123606	broad.mit.edu	37	15	23049053	23049053	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:23049053C>T	ENST00000337435.4	-	5	790	c.766G>A	c.(766-768)Gac>Aac	p.D256N	NIPA1_ENST00000437912.2_Missense_Mutation_p.D181N|NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	256					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		ACCGAGGAGTCGAAGCACTCC	0.612																																						ENST00000437912.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(541-543)Gac>Aac		non imprinted in Prader-Willi/Angelman syndrome 1							124.0	89.0	101.0					15																	23049053		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23049053C>T	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.766G>A	15.37:g.23049053C>T	ENSP00000337452:p.Asp256Asn	False	False		Somatic	0				NIPA1_ENST00000337435.4_Missense_Mutation_p.D256N|NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N	p.D181N			WXS	Illumina HiSeq	Phase_I	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	1838	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	256					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.541G>A	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	8.788	0.929927	0.18131	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.87887	-2.31;-2.31;-2.31	5.46	5.46	0.80206	.	0.090329	0.85682	D	0.000000	T	0.78394	0.4276	N	0.04880	-0.145	0.47737	D	0.999502	D	0.67145	0.996	P	0.49561	0.615	T	0.76677	-0.2871	10	0.02654	T	1	-31.8615	19.2935	0.94112	0.0:1.0:0.0:0.0	.	256	Q7RTP0	NIPA1_HUMAN	N	256;181;86	ENSP00000337452:D256N;ENSP00000393962:D181N;ENSP00000440957:D86N	ENSP00000337452:D256N	D	-	1	0	NIPA1	20600494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.979000	0.56888	2.572000	0.86782	0.591000	0.81541	GAC		0.612	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	0	NM_144599		15:23049053
GRIK2	2898	broad.mit.edu	37	6	102266347	102266347	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266347A>T	ENST00000421544.1	+	9	1796	c.1306A>T	c.(1306-1308)Acc>Tcc	p.T436S	GRIK2_ENST00000369138.1_Missense_Mutation_p.T436S|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTTGATTGTTACCACCATTTT	0.383																																						ENST00000369138.1		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1306-1308)Acc>Tcc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						192.0	172.0	179.0					6																	102266347		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102266347A>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1306A>T	6.37:g.102266347A>T	ENSP00000397026:p.Thr436Ser	False	False		Somatic	0				GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436S	p.T436S	NM_001166247.1	NP_001159719.1	WXS	Illumina HiSeq	Phase_I	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1796	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	436					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1306A>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541984	0.45280	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35973	2.79;2.79;2.79;2.79;2.79;2.79;1.28;2.79	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.28830	0.0715	L	0.61218	1.895	0.43226	D	0.995116	B;B;B	0.18863	0.031;0.002;0.007	B;B;B	0.27380	0.079;0.022;0.049	T	0.15723	-1.0427	10	0.72032	D	0.01	.	16.151	0.81622	1.0:0.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	S	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436S;ENSP00000405596:T436S;ENSP00000358134:T436S;ENSP00000358133:T436S;ENSP00000313276:T436S;ENSP00000358130:T387S;ENSP00000391988:T149S;ENSP00000407140:T35S	ENSP00000313276:T436S	T	+	1	0	GRIK2	102373040	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.412000	0.66392	2.221000	0.72209	0.523000	0.50628	ACC		0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	0			6:102266347
LPA	4018	broad.mit.edu	37	6	161020546	161020546	+	Missense_Mutation	SNP	T	T	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:161020546T>G	ENST00000316300.5	-	20	3317	c.3273A>C	c.(3271-3273)gaA>gaC	p.E1091D	LPA_ENST00000447678.1_Missense_Mutation_p.E1091D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3599	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGGGTAGTTTTCTGGGGTCC	0.483																																						ENST00000447678.1		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3271-3273)gaA>gaC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						307.0	333.0	324.0					6																	161020546		2201	4300	6501	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020546T>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3273A>C	6.37:g.161020546T>G	ENSP00000321334:p.Glu1091Asp	True	False		Somatic	0				LPA_ENST00000316300.5_Missense_Mutation_p.E1091D	p.E1091D	NM_005577.2	NP_005568.2	WXS	Illumina HiSeq	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3393	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3599			Kringle 10.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3273A>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	8.354	0.831520	0.16820	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.68025	-0.3;-0.3	2.48	-2.05	0.07321	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.31009	0.0783	L	0.41824	1.3	0.09310	N	1	B	0.15141	0.012	B	0.31751	0.135	T	0.39683	-0.9602	9	0.30078	T	0.28	.	2.9399	0.05826	0.0:0.3134:0.2443:0.4423	.	3599	P08519	APOA_HUMAN	D	1091	ENSP00000321334:E1091D;ENSP00000395608:E1091D	ENSP00000321334:E1091D	E	-	3	2	LPA	160940536	0.000000	0.05858	0.013000	0.15412	0.003000	0.03518	-0.976000	0.03786	-0.618000	0.05656	-0.782000	0.03352	GAA		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	0	NM_005577		6:161020546
DIDO1	11083	broad.mit.edu	37	20	61538515	61538515	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:61538515G>T	ENST00000266070.4	-	5	1683	c.1358C>A	c.(1357-1359)cCg>cAg	p.P453Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.P453Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P453Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	453					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P453L(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCGCATTTCGGAAGACTGGG	0.527																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4		NA																	1	Substitution - Missense(1)	p.P453L(1)	ovary(1)	NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1357-1359)cCg>cAg		death inducer-obliterator 1							219.0	190.0	200.0					20																	61538515		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61538515G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1358C>A	20.37:g.61538515G>T	ENSP00000266070:p.Pro453Gln	False	False		Somatic	0				DIDO1_ENST00000395340.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.P453Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P453Q	p.P453Q	NM_033081.2	NP_149072.2	WXS	Illumina HiSeq	Phase_I	Q9BTC0	DIDO1_HUMAN			5	1683	-	Breast(26;5.68e-08)		453					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1358C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	1.689	-0.504488	0.04261	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18338	3.06;3.06;2.72;2.72;2.22;2.22;2.22;2.23;2.23	4.91	1.78	0.24846	.	0.173706	0.27622	N	0.018547	T	0.11793	0.0287	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.33494	0.239;0.414;0.203;0.128	B;B;B;B	0.28991	0.097;0.097;0.034;0.026	T	0.17258	-1.0375	10	0.36615	T	0.2	-8.571	8.456	0.32899	0.0737:0.0:0.6357:0.2906	.	453;453;453;453	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	Q	453	ENSP00000266070:P453Q;ENSP00000378752:P453Q;ENSP00000378749:P453Q;ENSP00000378744:P453Q;ENSP00000359397:P453Q;ENSP00000359394:P453Q;ENSP00000346692:P453Q;ENSP00000359391:P453Q;ENSP00000266071:P453Q	ENSP00000266070:P453Q	P	-	2	0	DIDO1	61008960	0.105000	0.21958	0.097000	0.21041	0.010000	0.07245	0.494000	0.22467	0.557000	0.29117	0.561000	0.74099	CCG		0.527	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	NM_080796		20:61538515
FNDC3A	22862	broad.mit.edu	37	13	49775956	49775956	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:49775956G>C	ENST00000492622.2	+	24	3313	c.3008G>C	c.(3007-3009)gGa>gCa	p.G1003A	FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1003	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTATACAGAGGACCATGTCAT	0.328																																						ENST00000492622.2		NA																	0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3007-3009)gGa>gCa		fibronectin type III domain containing 3A							81.0	81.0	81.0					13																	49775956		2202	4300	6502	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49775956G>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3008G>C	13.37:g.49775956G>C	ENSP00000417257:p.Gly1003Ala	False	False		Somatic	0				FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A	p.G1003A	NM_001079673.1	NP_001073141.1	WXS	Illumina HiSeq	Phase_I	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	24	3313	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1003			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3008G>C	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833531	0.91036	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56611	0.45;0.45;0.45	6.16	6.16	0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.78723	0.4328	M	0.90082	3.085	0.80722	D	1	D;P	0.89917	1.0;0.936	D;P	0.91635	0.999;0.908	T	0.76822	-0.2817	10	0.33141	T	0.24	-24.3933	19.848	0.96722	0.0:0.0:1.0:0.0	.	947;1003	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	A	1003;939;1003;947	ENSP00000417257:G1003A;ENSP00000441831:G1003A;ENSP00000381362:G947A	ENSP00000338579:G939A	G	+	2	0	FNDC3A	48673957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GGA		0.328	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	0	NM_014923		13:49775956
ANLN	54443	broad.mit.edu	37	7	36489379	36489379	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:36489379C>A	ENST00000265748.2	+	23	3405	c.3184C>A	c.(3184-3186)Cga>Aga	p.R1062R	ANLN_ENST00000396068.2_Silent_p.R1025R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1062	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AATTACTGTCCGACCACAAAG	0.408																																						ENST00000265748.2		NA																	0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(3184-3186)Cga>Aga		anillin, actin binding protein							96.0	92.0	93.0					7																	36489379		2203	4300	6503	SO:0001819	synonymous_variant	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36489379C>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3184C>A	7.37:g.36489379C>A		False	False		Somatic	0				ANLN_ENST00000396068.2_Silent_p.R1025R	p.R1062R	NM_018685.2	NP_061155.2	WXS	Illumina HiSeq	Phase_I	Q9NQW6	ANLN_HUMAN			23	3405	+			1062			Localization to the cleavage furrow.|PH.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Silent	SNP	ENST00000265748.2	37	c.3184C>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348424	0.24426	.	.	ENSG00000011426	ENST00000428612	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.74596	0.3737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73065	-0.4100	4	.	.	.	-10.8384	18.3032	0.90171	0.0:1.0:0.0:0.0	.	.	.	.	Q	226	.	.	P	+	2	0	ANLN	36455904	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	1.405000	0.34635	2.577000	0.86979	0.655000	0.94253	CCG		0.408	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	0	NM_018685		7:36489379
ATP7B	540	broad.mit.edu	37	13	52585461	52585461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52585461C>A	ENST00000242839.4	-	1	169	c.13G>T	c.(13-15)Gag>Tag	p.E5*	ALG11_ENST00000521508.1_5'Flank|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ALG11_ENST00000523764.1_5'Flank|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	5					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATCTGTCTCTCCTGCTCAGGC	0.592									Wilson disease																													ENST00000242839.4		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(13-15)Gag>Tag		ATPase, Cu++ transporting, beta polypeptide							70.0	84.0	79.0					13																	52585461		2054	4209	6263	SO:0001587	stop_gained	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52585461C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.13G>T	13.37:g.52585461C>A	ENSP00000242839:p.Glu5*	True	False		Somatic	0				ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*	p.E5*	NM_000053.3	NP_000044.2	WXS	Illumina HiSeq	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	1	169	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	5					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Nonsense_Mutation	SNP	ENST00000242839.4	37	c.13G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225575	0.79576	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	.	.	.	3.89	1.0	0.19881	.	0.976046	0.08296	U	0.967727	.	.	.	.	.	.	0.19945	N	0.999943	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.074	2.4796	0.04584	0.1932:0.5103:0.1876:0.1088	.	.	.	.	X	5	.	ENSP00000242839:E5X	E	-	1	0	ATP7B	51483462	0.002000	0.14202	0.001000	0.08648	0.037000	0.13140	0.524000	0.22940	0.051000	0.15978	-0.378000	0.06908	GAG		0.592	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	0	NM_000053		13:52585461
FAM193A	8603	broad.mit.edu	37	4	2691390	2691390	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2691390A>T	ENST00000324666.5	+	12	1967	c.1616A>T	c.(1615-1617)aAg>aTg	p.K539M	FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M|FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M|FAM193A_ENST00000502458.1_Missense_Mutation_p.K561M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	539										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATGAATGATAAGAACTGGAAT	0.353																																						ENST00000324666.5		NA																	0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1615-1617)aAg>aTg		family with sequence similarity 193, member A							68.0	73.0	72.0					4																	2691390		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2691390A>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1616A>T	4.37:g.2691390A>T	ENSP00000324587:p.Lys539Met	False	False		Somatic	0				FAM193A_ENST00000502458.1_Missense_Mutation_p.K561M|FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M|FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M	p.K539M	NM_001256666.1	NP_001243595.1	WXS	Illumina HiSeq	Phase_I	P78312	F193A_HUMAN			12	1967	+			539					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1616A>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973078	0.74246	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.998;0.997;0.998	T	0.47724	-0.9095	10	0.72032	D	0.01	-39.2116	14.6205	0.68582	1.0:0.0:0.0:0.0	.	539;561;539;561;539	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	M	539;539;539;561;393	ENSP00000372290:K539M;ENSP00000324587:K539M;ENSP00000443617:K539M;ENSP00000427505:K561M;ENSP00000427260:K393M	ENSP00000324587:K539M	K	+	2	0	FAM193A	2661188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.217000	0.72218	2.048000	0.60808	0.456000	0.33151	AAG		0.353	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	0	NM_003704		4:2691390
MECP2	4204	broad.mit.edu	37	X	153296299	153296299	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:153296299G>A	ENST00000303391.6	-	4	1229	c.980C>T	c.(979-981)aCc>aTc	p.T327I	MECP2_ENST00000453960.2_Missense_Mutation_p.T339I|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	327					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.T327N(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACCGAGGGTGGACACCAG	0.617																																						ENST00000303391.6		NA																	1	Substitution - Missense(1)	p.T327N(1)	lung(1)	breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(979-981)aCc>aTc		methyl CpG binding protein 2 (Rett syndrome)							75.0	67.0	70.0					X																	153296299		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296299G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.980C>T	X.37:g.153296299G>A	ENSP00000301948:p.Thr327Ile	True	False		Somatic	0				MECP2_ENST00000453960.2_Missense_Mutation_p.T339I	p.T327I	NM_004992.3	NP_004983.1	WXS	Illumina HiSeq	Phase_I	P51608	MECP2_HUMAN			4	1229	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		327					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.980C>T	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599919	0.46318	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.91295	-2.82;-2.81	5.06	5.06	0.68205	.	0.554194	0.19741	N	0.107108	T	0.81531	0.4842	N	0.14661	0.345	0.80722	D	1	B;B	0.26400	0.144;0.148	B;B	0.27170	0.077;0.035	T	0.76683	-0.2869	10	0.19147	T	0.46	-5.948	11.8253	0.52263	0.0:0.0:0.8245:0.1755	.	339;327	P51608-2;P51608	.;MECP2_HUMAN	I	327;327;339	ENSP00000301948:T327I;ENSP00000395535:T339I	ENSP00000301948:T327I	T	-	2	0	MECP2	152949493	0.912000	0.30974	0.128000	0.21923	0.887000	0.51463	5.301000	0.65727	2.344000	0.79699	0.600000	0.82982	ACC		0.617	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	0	NM_004992		X:153296299
TTN	7273	broad.mit.edu	37	2	179433869	179433869	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179433869G>T	ENST00000591111.1	-	276	72291	c.72067C>A	c.(72067-72069)Cag>Aag	p.Q24023K	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q25664K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24023	Fibronectin type-III 74. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TCTTGGAGCTGATCGATTTTC	0.388																																						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.(76990-76992)Cag>Aag		titin							191.0	193.0	192.0					2																	179433869		1930	4117	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433869G>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.72067C>A	2.37:g.179433869G>T	ENSP00000465570:p.Gln24023Lys	False	False		Somatic	0				TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q24023K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.Q25664K	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)		326	77214	-			24023			Ig-like 125.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.76990C>A		.	.	.	.	.	.	.	.	.	.	G	2.557	-0.302746	0.05495	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.93	3.1	0.35709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26048	0.0635	N	0.02266	-0.62	0.33359	D	0.572126	B;B;B;B	0.14012	0.009;0.009;0.009;0.002	B;B;B;B	0.14023	0.005;0.005;0.005;0.01	T	0.16808	-1.0390	9	0.87932	D	0	.	14.5358	0.67960	0.0589:0.212:0.7291:0.0	.	16599;16724;16791;24023	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23096;16599;16791;16724;16597	ENSP00000343764:Q23096K;ENSP00000434586:Q16599K;ENSP00000340554:Q16791K;ENSP00000352154:Q16724K	ENSP00000340554:Q16791K	Q	-	1	0	TTN	179142115	1.000000	0.71417	0.163000	0.22734	0.218000	0.24690	4.194000	0.58393	0.087000	0.17167	-0.810000	0.03169	CAG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179433869
ZNF536	9745	broad.mit.edu	37	19	30936183	30936183	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:30936183G>T	ENST00000355537.3	+	2	1861	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	572					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTGGGAGCAGATGGCTCCAA	0.527																																						ENST00000355537.3		NA																	0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1714-1716)Gat>Tat		zinc finger protein 536							82.0	87.0	85.0					19																	30936183		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936183G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1714G>T	19.37:g.30936183G>T	ENSP00000347730:p.Asp572Tyr	False	False		Somatic	0					p.D572Y	NM_014717.1	NP_055532.1	WXS	Illumina HiSeq	Phase_I	O15090	ZN536_HUMAN			2	1861	+	Esophageal squamous(110;0.0834)		572					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1714G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973891	0.34848	.	.	ENSG00000198597	ENST00000355537	T	0.46819	0.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51450	-0.8704	10	0.08599	T	0.76	-22.8705	19.4573	0.94900	0.0:0.0:1.0:0.0	.	572;572	A7E228;O15090	.;ZN536_HUMAN	Y	572	ENSP00000347730:D572Y	ENSP00000347730:D572Y	D	+	1	0	ZNF536	35628023	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.435000	0.97529	2.582000	0.87167	0.655000	0.94253	GAT		0.527	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	0	NM_014717		19:30936183
CSDE1	7812	broad.mit.edu	37	1	115276409	115276409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:115276409C>A	ENST00000358528.4	-	9	1207	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E276*|CSDE1_ENST00000438362.2_Nonsense_Mutation_p.E307*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E131*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E230*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E261*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E230*	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	261					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAATGTTCAATGCTGATA	0.403																																						ENST00000438362.2		NA																	0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(919-921)Gaa>Taa		cold shock domain containing E1, RNA-binding							99.0	97.0	97.0					1																	115276409		2203	4300	6503	SO:0001587	stop_gained	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115276409C>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.781G>T	1.37:g.115276409C>A	ENSP00000351329:p.Glu261*	False	False		Somatic	0				CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E230*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E261*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E131*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E276*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E230*|CSDE1_ENST00000358528.4_Nonsense_Mutation_p.E261*	p.E307*	NM_001242891.1	NP_001229820.1	WXS	Illumina HiSeq	Phase_I	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1297	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	261			CSD 4; truncated.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Nonsense_Mutation	SNP	ENST00000358528.4	37	c.919G>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	39	7.578037	0.98368	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699;ENST00000529046	.	.	.	6.07	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-7.0899	15.2523	0.73556	0.0:0.9332:0.0:0.0668	.	.	.	.	X	230;307;261;230;131;276;261;131	.	ENSP00000261443:E230X	E	-	1	0	CSDE1	115077932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	1.584000	0.49913	0.655000	0.94253	GAA		0.403	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	0	NM_007158		1:115276409
BLM	641	broad.mit.edu	37	15	91303899	91303899	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:91303899T>C	ENST00000355112.3	+	7	1414	c.1296T>C	c.(1294-1296)ccT>ccC	p.P432P	BLM_ENST00000560509.1_Silent_p.P432P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	432	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATACAGGCCTGATTCACTTG	0.418			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1294-1296)ccT>ccC	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							121.0	122.0	122.0					15																	91303899		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91303899T>C	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1296T>C	15.37:g.91303899T>C		False	False		Somatic	0				BLM_ENST00000560509.1_Silent_p.P432P	p.P432P	NM_000057.2	NP_000048.1	WXS	Illumina HiSeq	Phase_I	P54132	BLM_HUMAN	Lung(145;0.189)		7	1414	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		432					Q52M96	Silent	SNP	ENST00000355112.3	37	c.1296T>C	CCDS10363.1																																																																																				0.418	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	0			15:91303899
KRT17	3872	broad.mit.edu	37	17	39778723	39778723	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:39778723C>A	ENST00000311208.8	-	3	623	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	JUP_ENST00000540235.1_Missense_Mutation_p.D345Y	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	186	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCATTGATGTCGGCCTCCACA	0.612																																					Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1033-1035)Gac>Tac		junction plakoglobin							66.0	68.0	68.0					17																	39778723		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39778723C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.556G>T	17.37:g.39778723C>A	ENSP00000308452:p.Asp186Tyr	False	False		Somatic	0				KRT17_ENST00000311208.8_Missense_Mutation_p.D186Y	p.D345Y			WXS	Illumina HiSeq	Phase_I	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	6	1032	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1033G>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663356	0.88251	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.90197	-2.63;-2.63	4.31	4.31	0.51392	Filament (1);	0.000000	0.46758	D	0.000279	D	0.97133	0.9063	H	0.97291	3.975	0.48571	D	0.999672	D	0.89917	1.0	D	0.83275	0.996	D	0.98740	1.0716	10	0.87932	D	0	.	17.3475	0.87313	0.0:1.0:0.0:0.0	.	186	Q04695	K1C17_HUMAN	Y	186;345	ENSP00000308452:D186Y;ENSP00000441751:D345Y	ENSP00000441751:D345Y	D	-	1	0	JUP;KRT17	37032249	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.651000	0.83577	2.390000	0.81377	0.655000	0.94253	GAC		0.612	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	0	NM_000422		17:39778723
ZHX3	23051	broad.mit.edu	37	20	39832133	39832133	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:39832133G>A	ENST00000309060.3	-	4	1839	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	475	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A475V(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGACTGGGCCGCATTGACCAC	0.537																																						ENST00000309060.3		NA																	1	Substitution - Missense(1)	p.A475V(1)	large_intestine(1)	endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1423-1425)gCg>gTg		zinc fingers and homeoboxes 3							72.0	58.0	62.0					20																	39832133		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832133G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1424C>T	20.37:g.39832133G>A	ENSP00000312222:p.Ala475Val	False	False		Somatic	0				ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V	p.A475V			WXS	Illumina HiSeq	Phase_I	Q9H4I2	ZHX3_HUMAN			4	1839	-		Myeloproliferative disorder(115;0.00425)	475			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.1424C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.997092	0.35226	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.34859	1.34;2.8;2.8;2.59;1.34	5.93	5.93	0.95920	.	0.242897	0.40469	N	0.001094	T	0.32645	0.0836	L	0.40543	1.245	0.18873	N	0.999981	P;B;P	0.41673	0.532;0.348;0.759	B;B;B	0.37480	0.251;0.102;0.176	T	0.38394	-0.9663	10	0.72032	D	0.01	-9.9771	16.3863	0.83505	0.0:0.1314:0.8686:0.0	.	475;475;475	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	V	475;475;475;475;253;475	ENSP00000312222:A475V;ENSP00000362360:A475V;ENSP00000442290:A475V;ENSP00000443783:A475V;ENSP00000415498:A475V	ENSP00000312222:A475V	A	-	2	0	ZHX3	39265547	0.534000	0.26362	0.181000	0.23098	0.707000	0.40811	2.718000	0.47236	2.815000	0.96918	0.561000	0.74099	GCG		0.537	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	0	NM_015035		20:39832133
TCERG1	10915	broad.mit.edu	37	5	145851118	145851118	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:145851118C>A	ENST00000296702.5	+	9	1618	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	527					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCTACTGCTCCTATTCCT	0.423																																						ENST00000296702.5		NA																	0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1579-1581)gCt>gAt		transcription elongation regulator 1							124.0	124.0	124.0					5																	145851118		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145851118C>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1580C>A	5.37:g.145851118C>A	ENSP00000296702:p.Ala527Asp	False	False		Somatic	0				TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	p.A527D	NM_006706.3	NP_006697.2	WXS	Illumina HiSeq	Phase_I	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1618	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	527					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1580C>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095411	0.56075	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.44482	0.92;0.92	5.63	5.63	0.86233	.	0.094736	0.64402	D	0.000001	T	0.30978	0.0782	N	0.08118	0	0.31301	N	0.688266	P;P;B	0.42649	0.786;0.762;0.041	B;B;B	0.43082	0.407;0.242;0.003	T	0.15263	-1.0443	10	0.30078	T	0.28	-8.6494	19.6756	0.95930	0.0:1.0:0.0:0.0	.	506;506;527	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	D	527;506	ENSP00000296702:A527D;ENSP00000377943:A506D	ENSP00000296702:A527D	A	+	2	0	TCERG1	145831311	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	4.739000	0.62080	2.664000	0.90586	0.313000	0.20887	GCT		0.423	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	0	NM_001040006		5:145851118
HSF5	124535	broad.mit.edu	37	17	56557381	56557381	+	Silent	SNP	G	G	A	rs115372024	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56557381G>A	ENST00000323777.3	-	2	907	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	266					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTGTATAGGTAACCTCAG	0.478													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		18766	0.0		0.0	False		,,,				2504	0.0					ENST00000323777.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(796-798)acC>acT		heat shock transcription factor family member 5		G		44,4362	46.7+/-81.2	0,44,2159	277.0	240.0	253.0		798	-0.4	1.0	17	dbSNP_132	253	0,8600		0,0,4300	no	coding-synonymous	HSF5	NM_001080439.1		0,44,6459	AA,AG,GG		0.0,0.9986,0.3383		266/597	56557381	44,12962	2203	4300	6503	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557381G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.798C>T	17.37:g.56557381G>A		False	False		Somatic	0					p.T266T	NM_001080439.1	NP_001073908.1	WXS	Illumina HiSeq	Phase_I	Q4G112	HSF5_HUMAN			2	907	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		266					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.798C>T	CCDS32690.1																																																																																				0.478	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	0	XM_064190		17:56557381
CFHR1	3078	broad.mit.edu	37	1	196797211	196797211	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:196797211G>T	ENST00000320493.5	+	4	530	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	148	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CACTTCCTGTGTGAATCCGCC	0.383																																						ENST00000320493.5		NA																	0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(442-444)Gtg>Ttg		complement factor H-related 1							55.0	73.0	67.0					1																	196797211		1827	4114	5941	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196797211G>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.442G>T	1.37:g.196797211G>T	ENSP00000314299:p.Val148Leu	True	False		Somatic	0				CFHR1_ENST00000367424.4_Intron|CFHR2_ENST00000367421.3_Intron	p.V148L	NM_002113.2	NP_002104.2	WXS	Illumina HiSeq	Phase_I	Q03591	FHR1_HUMAN			4	530	+			148			Sushi 3.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.442G>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	6.008	0.369878	0.11352	.	.	ENSG00000244414	ENST00000320493	T	0.64260	-0.09	2.89	1.95	0.26073	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.55561	0.1928	L	0.37466	1.105	0.80722	D	1	B;D	0.54047	0.387;0.964	B;P	0.52554	0.326;0.702	T	0.47995	-0.9073	9	0.28530	T	0.3	.	6.0102	0.19571	0.1541:0.0:0.8459:0.0	.	148;1049	Q03591;A8K5T0	FHR1_HUMAN;.	L	148	ENSP00000314299:V148L	ENSP00000314299:V148L	V	+	1	0	CFHR1	195063834	0.321000	0.24625	0.995000	0.50966	0.022000	0.10575	0.327000	0.19663	0.520000	0.28426	0.398000	0.26397	GTG		0.383	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	0	NM_002113		1:196797211
RBP3	5949	broad.mit.edu	37	10	48388910	48388910	+	Silent	SNP	G	G	A	rs545131365		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:48388910G>A	ENST00000224600.4	-	1	2081	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	656	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCTGCCCCACGACCTCTGGCC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		17624	0.001		0.0	False		,,,				2504	0.0					ENST00000224600.4		NA																	0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1966-1968)gtC>gtT		retinol binding protein 3, interstitial	Vitamin A(DB00162)						17.0	19.0	18.0					10																	48388910		2198	4286	6484	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388910G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1968C>T	10.37:g.48388910G>A		False	False		Somatic	0					p.V656V	NM_002900.2	NP_002891.1	WXS	Illumina HiSeq	Phase_I	P10745	RET3_HUMAN			1	2081	-			656			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1968C>T	CCDS7218.1																																																																																				0.662	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	0	NM_002900		10:48388910
MAP10	54627	broad.mit.edu	37	1	232941470	232941470	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:232941470G>A	ENST00000418460.1	+	1	828	c.701G>A	c.(700-702)gGc>gAc	p.G234D		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	92					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TTCGGTCGCGGCAAGTCCTGC	0.716																																						ENST00000418460.1		NA																	0					NA						c.(700-702)gGc>gAc		microtubule-associated protein 10							8.0	11.0	10.0					1																	232941470		1973	4119	6092	SO:0001583	missense	54627							g.chr1:232941470G>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.701G>A	1.37:g.232941470G>A	ENSP00000403208:p.Gly234Asp	False	False		Somatic	0					p.G234D	NM_019090.2	NP_061963.2	WXS	Illumina HiSeq	Phase_I					1	828	+			NA					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.701G>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064286	0.93898	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	4.34	0.51931	.	0.000000	0.64402	U	0.000015	T	0.78477	0.4289	M	0.77103	2.36	0.49051	D	0.999746	D	0.89917	1.0	D	0.76575	0.988	T	0.81747	-0.0791	9	0.87932	D	0	-13.0448	13.9888	0.64353	0.0733:0.0:0.9267:0.0	.	92	Q9P2G4	K1383_HUMAN	D	234	.	ENSP00000403208:G234D	G	+	2	0	KIAA1383	231008093	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.751000	0.74893	1.341000	0.45600	0.555000	0.69702	GGC		0.716	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	0	NM_019090		1:232941470
MYO1D	4642	broad.mit.edu	37	17	31094737	31094737	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:31094737C>G	ENST00000318217.5	-	7	1052	c.748G>C	c.(748-750)Gtt>Ctt	p.V250L	MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L|MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L|MYO1D_ENST00000394649.4_Missense_Mutation_p.V162L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	250	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCATCAGCAACAACTCTGAAT	0.388																																						ENST00000318217.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(748-750)Gtt>Ctt		myosin ID							100.0	84.0	90.0					17																	31094737		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31094737C>G	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.748G>C	17.37:g.31094737C>G	ENSP00000324527:p.Val250Leu	False	False		Somatic	0				MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L|MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L|MYO1D_ENST00000394649.4_Missense_Mutation_p.V162L	p.V250L	NM_015194.1	NP_056009.1	WXS	Illumina HiSeq	Phase_I	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		7	1052	-			250			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.748G>C	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288156	0.95517	.	.	ENSG00000176658	ENST00000318217	D	0.86627	-2.15	6.0	6.0	0.97389	Myosin head, motor domain (2);	0.000000	0.35646	U	0.003065	D	0.89329	0.6684	L	0.45698	1.435	0.58432	D	0.999999	P;P	0.51933	0.949;0.913	P;P	0.53760	0.734;0.649	D	0.89435	0.3719	10	0.62326	D	0.03	.	17.9887	0.89162	0.0:1.0:0.0:0.0	.	161;250	Q7Z3N6;O94832	.;MYO1D_HUMAN	L	250	ENSP00000324527:V250L	ENSP00000324527:V250L	V	-	1	0	MYO1D	28118850	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.487000	0.81328	2.848000	0.98002	0.655000	0.94253	GTT		0.388	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1	0			17:31094737
APRT	353	broad.mit.edu	37	16	88877975	88877975	+	Missense_Mutation	SNP	C	C	T	rs370646722		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:88877975C>T	ENST00000378364.3	-	2	214	c.170G>A	c.(169-171)cGc>cAc	p.R57H	APRT_ENST00000426324.2_Missense_Mutation_p.R57H|APRT_ENST00000563655.1_Missense_Mutation_p.R57H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	57					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GTAGTCGATGCGGCCCCCGTG	0.716																																						ENST00000378364.3		NA																	0				cervix(1)|endometrium(1)|liver(1)	3						c.(169-171)cGc>cAc		adenine phosphoribosyltransferase	Adenine(DB00173)|Adenosine monophosphate(DB00131)						8.0	8.0	8.0					16																	88877975		2116	4182	6298	SO:0001583	missense	353				purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding	g.chr16:88877975C>T		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.170G>A	16.37:g.88877975C>T	ENSP00000367615:p.Arg57His	False	False		Somatic	0				APRT_ENST00000563655.1_Missense_Mutation_p.R57H|APRT_ENST00000426324.2_Missense_Mutation_p.R57H	p.R57H	NM_000485.2	NP_000476.1	WXS	Illumina HiSeq	Phase_I	P07741	APT_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	214	-			57					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.170G>A	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610499	0.46527	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.99369	-3.3;-5.78	4.63	-0.359	0.12571	Phosphoribosyltransferase (1);	0.950123	0.08812	N	0.890115	D	0.95510	0.8541	N	0.03891	-0.335	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	D	0.90882	0.4754	10	0.72032	D	0.01	-3.3317	9.307	0.37881	0.0:0.5341:0.0:0.4659	.	57;57	G5E9J2;P07741	.;APT_HUMAN	H	57	ENSP00000367615:R57H;ENSP00000397007:R57H	ENSP00000367615:R57H	R	-	2	0	APRT	87405476	0.001000	0.12720	0.026000	0.17262	0.926000	0.56050	0.200000	0.17257	-0.387000	0.07809	0.313000	0.20887	CGC		0.716	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	0	NM_000485		16:88877975
ZXDB	158586	broad.mit.edu	37	X	57620752	57620752	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:57620752G>A	ENST00000374888.1	+	1	2484	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A757A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAACCAAAGCGGAGTGGAACG	0.488																																						ENST00000374888.1		NA																	1	Substitution - coding silent(1)	p.A757A(1)	lung(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(2269-2271)gcG>gcA		zinc finger, X-linked, duplicated B							163.0	124.0	138.0					X																	57620752		2203	4300	6503	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57620752G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2271G>A	X.37:g.57620752G>A		False	False		Somatic	0					p.A757A	NM_007157.3	NP_009088.1	WXS	Illumina HiSeq	Phase_I	P98169	ZXDB_HUMAN			1	2484	+			757					A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.2271G>A	CCDS35313.1																																																																																				0.488	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	0	NM_007157		X:57620752
CLCNKA	1187	broad.mit.edu	37	1	16353850	16353850	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:16353850G>A	ENST00000331433.4	+	8	720	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	234					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTCTCTGTCCGGGATTACTGG	0.637																																						ENST00000375692.1		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(700-702)cGg>cAg		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						95.0	99.0	98.0					1																	16353850		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353850G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.701G>A	1.37:g.16353850G>A	ENSP00000332771:p.Arg234Gln	True	False		Somatic	0				CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q|CLCNKA_ENST00000331433.4_Missense_Mutation_p.R234Q	p.R234Q			WXS	Illumina HiSeq	Phase_I	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	9	829	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	234					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.701G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397759	0.62177	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	3.02	3.02	0.34903	Chloride channel, core (2);	0.189554	0.45606	D	0.000349	D	0.94212	0.8142	M	0.68728	2.09	0.28863	N	0.895394	B;P;B	0.39480	0.364;0.675;0.364	B;P;B	0.46026	0.342;0.501;0.342	D	0.90856	0.4735	10	0.51188	T	0.08	.	13.4842	0.61355	0.0:0.0:1.0:0.0	.	191;234;234	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	Q	234;234;191;234	ENSP00000364844:R234Q;ENSP00000410353:R234Q;ENSP00000414445:R191Q;ENSP00000332771:R234Q	ENSP00000332771:R234Q	R	+	2	0	CLCNKA	16226437	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.291000	0.65667	1.674000	0.50907	0.313000	0.20887	CGG		0.637	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1	0			1:16353850
GATAD2B	57459	broad.mit.edu	37	1	153789912	153789912	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:153789912G>A	ENST00000368655.4	-	6	1079	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	279					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGCTTAGGCGGGCCCCGCTG	0.527																																						ENST00000368655.4		NA																	0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(835-837)cCg>cTg		GATA zinc finger domain containing 2B							115.0	101.0	106.0					1																	153789912		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153789912G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.836C>T	1.37:g.153789912G>A	ENSP00000357644:p.Pro279Leu	True	False		Somatic	0					p.P279L	NM_020699.2	NP_065750.1	WXS	Illumina HiSeq	Phase_I	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1079	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		279					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.836C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284508	0.40394	.	.	ENSG00000143614	ENST00000368655	T	0.35605	1.3	5.87	5.87	0.94306	.	0.054498	0.85682	D	0.000000	T	0.19248	0.0462	L	0.38175	1.15	0.80722	D	1	D	0.53619	0.961	B	0.36989	0.238	T	0.02126	-1.1209	10	0.40728	T	0.16	-4.5218	19.3531	0.94398	0.0:0.0:1.0:0.0	.	279	Q8WXI9	P66B_HUMAN	L	279	ENSP00000357644:P279L	ENSP00000357644:P279L	P	-	2	0	GATAD2B	152056536	1.000000	0.71417	0.931000	0.37212	0.149000	0.21700	6.016000	0.70798	2.941000	0.99782	0.655000	0.94253	CCG		0.527	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	0	NM_020699		1:153789912
ACRBP	84519	broad.mit.edu	37	12	6753307	6753307	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:6753307C>T	ENST00000229243.2	-	5	1033	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S|ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S|ACRBP_ENST00000542357.1_5'Flank	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTATACCTGCCAGGGTTTTGG	0.463																																						ENST00000229243.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(940-942)Ggc>Agc		acrosin binding protein							69.0	70.0	70.0					12																	6753307		2203	4299	6502	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6753307C>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.940G>A	12.37:g.6753307C>T	ENSP00000229243:p.Gly314Ser	False	False		Somatic	0				ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S|ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S	p.G314S	NM_032489.2	NP_115878.2	WXS	Illumina HiSeq	Phase_I	Q8NEB7	ACRBP_HUMAN			5	1033	-			314						Missense_Mutation	SNP	ENST00000229243.2	37	c.940G>A	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612970	0.46631	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.44881	0.92;0.91	4.25	2.41	0.29592	.	0.596770	0.15767	N	0.245645	T	0.29914	0.0748	L	0.50919	1.6	0.21325	N	0.999725	P;P	0.37525	0.598;0.598	B;B	0.31614	0.133;0.133	T	0.14504	-1.0470	10	0.41790	T	0.15	.	5.855	0.18714	0.0:0.767:0.0:0.233	.	281;314	E7EP66;Q8NEB7	.;ACRBP_HUMAN	S	314;281;314	ENSP00000229243:G314S;ENSP00000402725:G281S	ENSP00000229243:G314S	G	-	1	0	ACRBP	6623568	0.505000	0.26131	0.620000	0.29132	0.535000	0.34838	0.691000	0.25467	1.135000	0.42183	0.561000	0.74099	GGC		0.463	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	0	NM_032489		12:6753307
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCGCCATCCGCACTGGAGAG	0.592																																						ENST00000422113.2		NA																	0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1117-1119)gCg>gTg		transmembrane protein 132D							76.0	72.0	73.0					12																	129822360		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822360G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1118C>T	12.37:g.129822360G>A	ENSP00000408581:p.Ala373Val	False	False		Somatic	0					p.A373V	NM_133448.2	NP_597705.2	WXS	Illumina HiSeq	Phase_I	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	373					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1118C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611470	0.14066	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.15	-9.46	0.00597	.	1.098670	0.06965	N	0.817048	T	0.05547	0.0146	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44251	-0.9340	9	.	.	.	-7.6336	13.872	0.63624	0.2209:0.0943:0.6848:0.0	.	373	Q14C87	T132D_HUMAN	V	373	ENSP00000408581:A373V	.	A	-	2	0	TMEM132D	128388313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.065000	0.11617	-2.151000	0.00795	-0.889000	0.02933	GCG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	0	NM_133448		12:129822360
CR1	1378	broad.mit.edu	37	1	207785308	207785308	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207785308G>A	ENST00000367049.4	+	39	6497	c.6497G>A	c.(6496-6498)gGc>gAc	p.G2166D	CR1_ENST00000400960.2_Missense_Mutation_p.G1716D|CR1_ENST00000367052.1_Missense_Mutation_p.G1716D|CR1_ENST00000367053.1_Missense_Mutation_p.G1716D|CR1_ENST00000367051.1_Missense_Mutation_p.G1716D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1716					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACTTCCTGGGCCAACTCCCT	0.488																																						ENST00000367049.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6496-6498)gGc>gAc		complement component (3b/4b) receptor 1 (Knops blood group)							273.0	262.0	266.0					1																	207785308		1936	4132	6068	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207785308G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6497G>A	1.37:g.207785308G>A	ENSP00000356016:p.Gly2166Asp	True	False		Somatic	0				CR1_ENST00000400960.2_Missense_Mutation_p.G1716D|CR1_ENST00000367051.1_Missense_Mutation_p.G1716D|CR1_ENST00000367052.1_Missense_Mutation_p.G1716D|CR1_ENST00000367053.1_Missense_Mutation_p.G1716D	p.G2166D	NM_000651.4	NP_000642.3	WXS	Illumina HiSeq	Phase_I	P17927	CR1_HUMAN			39	6497	+			1716					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.6497G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.958684	0.00465	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	3.21	-1.18	0.09617	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.16300	0.0392	L	0.31120	0.905	0.09310	N	1	B;B	0.28713	0.002;0.22	B;B	0.32762	0.006;0.152	T	0.36696	-0.9737	9	0.20519	T	0.43	.	6.8921	0.24234	0.7728:0.0:0.2272:0.0	.	1716;2166	P17927;E9PDY4	CR1_HUMAN;.	D	1716;1716;1716;1716;2166	ENSP00000356019:G1716D;ENSP00000356018:G1716D;ENSP00000356020:G1716D;ENSP00000383744:G1716D;ENSP00000356016:G2166D	ENSP00000356016:G2166D	G	+	2	0	CR1	205851931	0.000000	0.05858	0.000000	0.03702	0.600000	0.36913	0.102000	0.15272	-0.240000	0.09696	0.511000	0.50034	GGC		0.488	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	0	NM_000573		1:207785308
CCDC178	374864	broad.mit.edu	37	18	30846964	30846964	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:30846964A>G	ENST00000383096.3	-	14	1507	c.1325T>C	c.(1324-1326)aTt>aCt	p.I442T	CCDC178_ENST00000403303.1_Missense_Mutation_p.I442T|CCDC178_ENST00000406524.2_Missense_Mutation_p.I442T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I442T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.I442T|CCDC178_ENST00000300227.8_Missense_Mutation_p.I442T|CCDC178_ENST00000579947.1_Missense_Mutation_p.I442T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	442																	TGCCAAAGAAATAGCTGAAAA	0.269																																						ENST00000383096.3		NA																	0					NA						c.(1324-1326)aTt>aCt		coiled-coil domain containing 178							52.0	52.0	52.0					18																	30846964		2203	4289	6492	SO:0001583	missense	374864							g.chr18:30846964A>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1325T>C	18.37:g.30846964A>G	ENSP00000372576:p.Ile442Thr	True	False		Somatic	0				CCDC178_ENST00000402325.1_Missense_Mutation_p.I442T|CCDC178_ENST00000300227.8_Missense_Mutation_p.I442T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.I442T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I442T|CCDC178_ENST00000406524.2_Missense_Mutation_p.I442T|CCDC178_ENST00000579947.1_Missense_Mutation_p.I442T	p.I442T			WXS	Illumina HiSeq	Phase_I					14	1507	-			NA					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1325T>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	5.280	0.237027	0.10023	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	4.16	4.16	0.48862	.	.	.	.	.	T	0.39332	0.1074	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.46784	0.884;0.884;0.884;0.884	P;P;P;P	0.48677	0.503;0.586;0.509;0.586	T	0.13072	-1.0523	9	0.30078	T	0.28	0.483	9.8834	0.41247	1.0:0.0:0.0:0.0	.	442;442;442;442	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	T	442	ENSP00000385591:I442T;ENSP00000372576:I442T;ENSP00000300227:I442T;ENSP00000385867:I442T;ENSP00000385234:I442T	ENSP00000300227:I442T	I	-	2	0	C18orf34	29100962	0.109000	0.22037	0.005000	0.12908	0.004000	0.04260	3.359000	0.52292	2.101000	0.63845	0.377000	0.23210	ATT		0.269	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	0	NM_198995		18:30846964
KMT2D	8085	broad.mit.edu	37	12	49416371	49416371	+	Splice_Site	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:49416371A>C	ENST00000301067.7	-	51	16338		c.e51+1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCCAGCTCATACCTGCTCTTC	0.547																																						ENST00000301067.7		NA																	0					NA						c.e51+1		lysine (K)-specific methyltransferase 2D							159.0	162.0	161.0					12																	49416371		2028	4187	6215	SO:0001630	splice_region_variant	8085							g.chr12:49416371A>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16338+1T>G	12.37:g.49416371A>C		False	False		Somatic	0						NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					51	16338	-			NA					O14687	Splice_Site	SNP	ENST00000301067.7	37		CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.303615	0.40795	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0915	0.64993	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47702638	1.000000	0.71417	0.998000	0.56505	0.434000	0.31775	8.672000	0.91181	2.040000	0.60383	0.482000	0.46254	.		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0		Intron	12:49416371
MAP4K3	8491	broad.mit.edu	37	2	39492429	39492429	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:39492429C>T	ENST00000263881.3	-	28	2375	c.2051G>A	c.(2050-2052)gGc>gAc	p.G684D	MAP4K3_ENST00000536018.1_Missense_Mutation_p.G237D|MAP4K3_ENST00000437545.1_Missense_Mutation_p.G600D|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G663D	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	684	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTATTTATGGCCCGTGTAAGG	0.313																																						ENST00000263881.3		NA																	0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2050-2052)gGc>gAc		mitogen-activated protein kinase kinase kinase kinase 3							111.0	123.0	119.0					2																	39492429		2203	4295	6498	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39492429C>T	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2051G>A	2.37:g.39492429C>T	ENSP00000263881:p.Gly684Asp	True	False		Somatic	0				MAP4K3_ENST00000437545.1_Missense_Mutation_p.G600D|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G663D|MAP4K3_ENST00000536018.1_Missense_Mutation_p.G237D	p.G684D	NM_003618.3	NP_003609.2	WXS	Illumina HiSeq	Phase_I	Q8IVH8	M4K3_HUMAN			28	2375	-		all_hematologic(82;0.211)	684			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2051G>A	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342466	0.61073	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	5.05	5.05	0.67936	Citron-like (3);	0.052839	0.85682	D	0.000000	T	0.21801	0.0525	L	0.58810	1.83	0.80722	D	1	P;D	0.63880	0.571;0.993	P;D	0.68192	0.453;0.956	T	0.00154	-1.1981	10	0.41790	T	0.15	.	18.5768	0.91158	0.0:1.0:0.0:0.0	.	663;684	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	D	684;600;663;237	ENSP00000263881:G684D;ENSP00000416958:G600D;ENSP00000345434:G663D;ENSP00000440580:G237D	ENSP00000263881:G684D	G	-	2	0	MAP4K3	39345933	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.493000	0.81493	2.615000	0.88500	0.591000	0.81541	GGC		0.313	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	0	NM_003618		2:39492429
PNLIPRP3	119548	broad.mit.edu	37	10	118203960	118203960	+	Missense_Mutation	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:118203960A>C	ENST00000369230.3	+	4	537	c.391A>C	c.(391-393)Atc>Ctc	p.I131L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	131					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACGGGAATACATCCATGCTGT	0.318																																						ENST00000369230.3		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(391-393)Atc>Ctc		pancreatic lipase-related protein 3							169.0	160.0	163.0					10																	118203960		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118203960A>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.391A>C	10.37:g.118203960A>C	ENSP00000358232:p.Ile131Leu	False	False		Somatic	0					p.I131L	NM_001011709.2	NP_001011709.2	WXS	Illumina HiSeq	Phase_I	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	4	537	+			131						Missense_Mutation	SNP	ENST00000369230.3	37	c.391A>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117608	0.37339	.	.	ENSG00000203837	ENST00000369230	D	0.90620	-2.7	5.28	-0.352	0.12598	Lipase, N-terminal (1);	0.753542	0.11427	N	0.565260	T	0.82070	0.4957	L	0.33668	1.02	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.69435	-0.5146	10	0.66056	D	0.02	.	2.765	0.05317	0.6175:0.1526:0.1158:0.114	.	131	Q17RR3	LIPR3_HUMAN	L	131	ENSP00000358232:I131L	ENSP00000358232:I131L	I	+	1	0	PNLIPRP3	118193950	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.284000	0.18864	-0.211000	0.10124	0.482000	0.46254	ATC		0.318	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	0	XM_058404		10:118203960
GPR4	2828	broad.mit.edu	37	19	46094142	46094142	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46094142G>T	ENST00000323040.4	-	2	1927	c.983C>A	c.(982-984)aCc>aAc	p.T328N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	328					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTCTTGGAGGTGAGTGGGGT	0.652																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4		NA																	0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(982-984)aCc>aAc		G protein-coupled receptor 4							95.0	85.0	88.0					19																	46094142		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094142G>T	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.983C>A	19.37:g.46094142G>T	ENSP00000319744:p.Thr328Asn	False	False		Somatic	0				OPA3_ENST00000544371.1_Intron	p.T328N	NM_005282.2	NP_005273.1	WXS	Illumina HiSeq	Phase_I	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1927	-			328					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.983C>A	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674372	0.47781	.	.	ENSG00000177464	ENST00000323040	T	0.61742	0.08	4.53	4.53	0.55603	.	0.190762	0.35378	N	0.003255	T	0.32133	0.0819	N	0.08118	0	0.30785	N	0.741534	B	0.34103	0.437	B	0.27500	0.08	T	0.28870	-1.0030	10	0.19147	T	0.46	.	12.6317	0.56661	0.0:0.0:1.0:0.0	.	328	P46093	GPR4_HUMAN	N	328	ENSP00000319744:T328N	ENSP00000319744:T328N	T	-	2	0	GPR4	50785982	0.977000	0.34250	0.425000	0.26659	0.971000	0.66376	6.583000	0.74053	2.356000	0.79943	0.455000	0.32223	ACC		0.652	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	0	NM_005282		19:46094142
GLI3	2737	broad.mit.edu	37	7	42116379	42116379	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:42116379C>T	ENST00000395925.3	-	4	529	c.445G>A	c.(445-447)Gat>Aat	p.D149N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	149					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGAGATGGATCGTAATGGTAA	0.433									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3		NA																	0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(445-447)Gat>Aat		GLI family zinc finger 3							167.0	142.0	150.0					7																	42116379		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42116379C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.445G>A	7.37:g.42116379C>T	ENSP00000379258:p.Asp149Asn	False	False		Somatic	0				GLI3_ENST00000479210.1_5'UTR	p.D149N	NM_000168.5	NP_000159.3	WXS	Illumina HiSeq	Phase_I	P10071	GLI3_HUMAN			4	529	-			149					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.445G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070585	0.93950	.	.	ENSG00000106571	ENST00000395925;ENST00000448703	T;T	0.69561	-0.41;-0.41	5.65	5.65	0.86999	.	0.099090	0.64402	D	0.000003	T	0.72510	0.3469	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.57960	0.83	T	0.74411	-0.3674	10	0.72032	D	0.01	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	149	P10071	GLI3_HUMAN	N	149	ENSP00000379258:D149N;ENSP00000406135:D149N	ENSP00000379258:D149N	D	-	1	0	GLI3	42082904	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	7.252000	0.78309	2.817000	0.96982	0.563000	0.77884	GAT		0.433	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	NM_000168		7:42116379
COL1A2	1278	broad.mit.edu	37	7	94039063	94039063	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:94039063G>A	ENST00000297268.6	+	19	1436	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	322					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGGCTCCCGGCCTCCCTGGA	0.577										HNSCC(75;0.22)																												ENST00000297268.6		NA																COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(964-966)gGc>gAc		collagen, type I, alpha 2	Collagenase(DB00048)						98.0	101.0	100.0					7																	94039063		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039063G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.965G>A	7.37:g.94039063G>A	ENSP00000297268:p.Gly322Asp	False	False	HNSCC(75;0.22)	Somatic	0					p.G322D	NM_000089.3	NP_000080.2	WXS	Illumina HiSeq	Phase_I	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		19	1436	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		322					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.965G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335985	0.81801	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97235	0.9887	10	0.87932	D	0	.	19.966	0.97266	0.0:0.0:1.0:0.0	.	322	P08123	CO1A2_HUMAN	D	322;323	ENSP00000297268:G322D	ENSP00000297268:G322D	G	+	2	0	COL1A2	93876999	1.000000	0.71417	0.985000	0.45067	0.772000	0.43724	9.439000	0.97543	2.802000	0.96397	0.655000	0.94253	GGC		0.577	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	0	NM_000089		7:94039063
RPS6KA5	9252	broad.mit.edu	37	14	91372565	91372565	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:91372565C>T	ENST00000261991.3	-	8	1058	c.885G>A	c.(883-885)atG>atA	p.M295I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I|RPS6KA5_ENST00000556304.1_5'UTR	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	295	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGGGATCTTTCATCAAAAGAC	0.383																																						ENST00000261991.3		NA																	0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(883-885)atG>atA		ribosomal protein S6 kinase, 90kDa, polypeptide 5							114.0	106.0	108.0					14																	91372565		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91372565C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.885G>A	14.37:g.91372565C>T	ENSP00000261991:p.Met295Ile	True	False		Somatic	0				RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I|RPS6KA5_ENST00000556304.1_5'UTR|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I	p.M295I	NM_004755.2	NP_004746.2	WXS	Illumina HiSeq	Phase_I	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	8	1058	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	295			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.885G>A	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031697	0.35797	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52983	0.64;0.64;0.64	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239079	0.49916	D	0.000136	T	0.24812	0.0602	N	0.03999	-0.3	0.41859	D	0.990216	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09292	-1.0681	10	0.35671	T	0.21	.	9.9904	0.41868	0.0:0.8486:0.0:0.1514	.	295;295	O75582-2;O75582	.;KS6A5_HUMAN	I	295;216;295	ENSP00000261991:M295I;ENSP00000442803:M216I;ENSP00000402787:M295I	ENSP00000261991:M295I	M	-	3	0	RPS6KA5	90442318	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.240000	0.32731	2.640000	0.89533	0.585000	0.79938	ATG		0.383	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	0	NM_004755		14:91372565
KIAA0825	285600	broad.mit.edu	37	5	93856355	93856355	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:93856355A>G	ENST00000329378.7	-	5	817	c.568T>C	c.(568-570)Tta>Cta	p.L190L	KIAA0825_ENST00000513200.3_Silent_p.L190L|KIAA0825_ENST00000427991.2_Silent_p.L190L|KIAA0825_ENST00000312498.7_Silent_p.L190L	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	190										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTTTCAATAAAATTTTTTGC	0.318																																						ENST00000513200.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(568-570)Tta>Cta		KIAA0825							110.0	113.0	112.0					5																	93856355		2203	4299	6502	SO:0001819	synonymous_variant	285600							g.chr5:93856355A>G	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.568T>C	5.37:g.93856355A>G		True	False		Somatic	0				KIAA0825_ENST00000427991.2_Silent_p.L190L|KIAA0825_ENST00000329378.7_Silent_p.L190L|KIAA0825_ENST00000312498.7_Silent_p.L190L	p.L190L	NM_001145678.1	NP_001139150.1	WXS	Illumina HiSeq	Phase_I	Q8IV33	K0825_HUMAN			4	640	-			190					O94914|Q6ZNN2	Silent	SNP	ENST00000329378.7	37	c.568T>C	CCDS4070.1																																																																																				0.318	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	0	NM_173665		5:93856355
SGSM3	27352	broad.mit.edu	37	22	40797636	40797636	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:40797636C>G	ENST00000248929.9	+	3	236	c.47C>G	c.(46-48)aCt>aGt	p.T16S	SGSM3_ENST00000454798.2_Intron	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAGCCCTGACTCCGAGCATA	0.567																																						ENST00000248929.9		NA																	0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(46-48)aCt>aGt		small G protein signaling modulator 3							142.0	136.0	138.0					22																	40797636		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40797636C>G	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.47C>G	22.37:g.40797636C>G	ENSP00000248929:p.Thr16Ser	False	False		Somatic	0				SGSM3_ENST00000454798.2_Intron	p.T16S	NM_015705.4	NP_056520.2	WXS	Illumina HiSeq	Phase_I	Q96HU1	SGSM3_HUMAN			3	236	+			16						Missense_Mutation	SNP	ENST00000248929.9	37	c.47C>G	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814574	0.90790	.	.	ENSG00000100359	ENST00000248929	T	0.13901	2.55	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.71581	2.175	0.80722	D	1	P;P;P	0.48230	0.887;0.907;0.907	P;B;B	0.52217	0.693;0.437;0.437	T	0.01045	-1.1470	10	0.54805	T	0.06	.	19.6801	0.95958	0.0:1.0:0.0:0.0	.	16;16;16	Q96HU1-2;B9A6J5;Q96HU1	.;.;SGSM3_HUMAN	S	16	ENSP00000248929:T16S	ENSP00000248929:T16S	T	+	2	0	SGSM3	39127582	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.973000	0.76116	2.749000	0.94314	0.655000	0.94253	ACT		0.567	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	0	NM_015705		22:40797636
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179579856C>T	ENST00000591111.1	-	88	25330	c.25106G>A	c.(25105-25107)gGc>gAc	p.G8369D	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G8686D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12543	Ig-like 66.				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)	p.G7442D(1)		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)			GTACTTCTTGCCGCTCCTAAG	0.443																																						ENST00000589042.1		NA																	1	Substitution - Missense(1)	p.G7442D(1)	lung(1)	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.(26056-26058)gGc>gAc		titin							327.0	308.0	314.0					2																	179579856		1930	4126	6056	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579856C>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.25106G>A	2.37:g.179579856C>T	ENSP00000465570:p.Gly8369Asp	False	False		Somatic	0				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8369D	p.G8686D	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)		90	26281	-			8369			Ig-like 69.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.26057G>A		.	.	.	.	.	.	.	.	.	.	C	16.73	3.205284	0.58234	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39963	0.1098	N	0.25825	0.765	0.80722	D	1	B	0.29671	0.254	B	0.35770	0.21	T	0.34925	-0.9809	9	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	8369	Q8WZ42	TITIN_HUMAN	D	7442	ENSP00000343764:G7442D	ENSP00000343764:G7442D	G	-	2	0	TTN	179288101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.672000	0.46850	2.653000	0.90120	0.655000	0.94253	GGC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179579856
ZNF555	148254	broad.mit.edu	37	19	2852530	2852530	+	Missense_Mutation	SNP	G	G	A	rs370507327		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:2852530G>A	ENST00000334241.4	+	4	605	c.467G>A	c.(466-468)cGc>cAc	p.R156H	ZNF555_ENST00000591539.1_Missense_Mutation_p.R155H|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	156					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)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCATCGCCGCACATCCCTC	0.468																																						ENST00000334241.4		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(466-468)cGc>cAc		zinc finger protein 555							157.0	138.0	145.0					19																	2852530		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852530G>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.467G>A	19.37:g.2852530G>A	ENSP00000334853:p.Arg156His	False	False		Somatic	0				ZNF555_ENST00000591539.1_Missense_Mutation_p.R155H|AC006130.3_ENST00000589365.1_RNA	p.R156H	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	WXS	Illumina HiSeq	Phase_I	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	605	+			156					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.467G>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	7.901	0.734449	0.15574	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.76448	-1.02	3.4	-6.8	0.01709	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54062	0.1835	N	0.20685	0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42965	-0.9420	9	0.12430	T	0.62	.	7.4147	0.27038	0.2247:0.2852:0.4901:0.0	.	156;155	Q8NEP9;A8KA89	ZN555_HUMAN;.	H	156;155	ENSP00000334853:R156H	ENSP00000334853:R156H	R	+	2	0	ZNF555	2803530	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.082000	0.14847	-1.664000	0.01479	-1.567000	0.00876	CGC		0.468	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	0	NM_152791		19:2852530
RPL36	25873	broad.mit.edu	37	19	5691442	5691442	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:5691442C>T	ENST00000577222.1	+	5	750	c.206C>T	c.(205-207)gCc>gTc	p.A69V	RPL36_ENST00000579649.1_Missense_Mutation_p.A69V|RPL36_ENST00000347512.3_Missense_Mutation_p.A69V|RPL36_ENST00000579446.1_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	69					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GACAAACGGGCCCTCAAATTT	0.642											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1		NA																	0				breast(1)|upper_aerodigestive_tract(1)	2						c.(205-207)gCc>gTc		ribosomal protein L36							44.0	49.0	47.0					19																	5691442		2203	4299	6502	SO:0001583	missense	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691442C>T		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.206C>T	19.37:g.5691442C>T	ENSP00000464342:p.Ala69Val	True	False		Somatic	0	OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000347512.3_Missense_Mutation_p.A69V|RPL36_ENST00000579649.1_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V|RPL36_ENST00000579446.1_Missense_Mutation_p.A69V	p.A69V			WXS	Illumina HiSeq	Phase_I	Q9Y3U8	RL36_HUMAN			5	750	+			69					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.206C>T	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311575	0.81358	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.60920	0.15;0.15	4.21	4.21	0.49690	.	0.000000	0.85682	U	0.000000	T	0.77850	0.4192	H	0.95574	3.69	0.80722	D	1	P	0.48503	0.911	P	0.53360	0.724	D	0.85194	0.1011	10	0.72032	D	0.01	.	14.0553	0.64764	0.0:1.0:0.0:0.0	.	69	Q9Y3U8	RL36_HUMAN	V	69	ENSP00000252543:A69V;ENSP00000378081:A69V	ENSP00000252543:A69V	A	+	2	0	RPL36	5642442	1.000000	0.71417	0.959000	0.39883	0.303000	0.27691	7.568000	0.82369	1.881000	0.54492	0.467000	0.42956	GCC		0.642	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	0	NM_015414		19:5691442
ACSL4	2182	broad.mit.edu	37	X	108906514	108906514	+	Missense_Mutation	SNP	T	T	C	rs148996116		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108906514T>C	ENST00000469796.2	-	13	2027	c.1631A>G	c.(1630-1632)gAt>gGt	p.D544G	ACSL4_ENST00000340800.2_Missense_Mutation_p.D544G|ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	544					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TCCATTTTCATCCACAGAATA	0.378																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1630-1632)gAt>gGt		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)	T	GLY/ASP,GLY/ASP	1,3834		0,1,1631,571	233.0	235.0	234.0		1508,1631	5.5	1.0	X	dbSNP_134	234	0,6728		0,0,2428,1872	no	missense,missense	ACSL4	NM_004458.2,NM_022977.2	94,94	0,1,4059,2443	CC,CT,TT,T		0.0,0.0261,0.0095	probably-damaging,probably-damaging	503/671,544/712	108906514	1,10562	2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108906514T>C	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1631A>G	X.37:g.108906514T>C	ENSP00000419171:p.Asp544Gly	False	False		Somatic	0				ACSL4_ENST00000469796.2_Missense_Mutation_p.D544G|ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G	p.D544G	NM_022977.2	NP_075266.1	WXS	Illumina HiSeq	Phase_I	O60488	ACSL4_HUMAN			14	2135	-			544					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1631A>G	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608081	0.87258	2.61E-4	0.0	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.13420	2.59;2.59;2.59	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.64525	-0.6387	10	0.87932	D	0	-21.9098	14.6742	0.68967	0.0:0.0:0.0:1.0	.	544	O60488	ACSL4_HUMAN	G	503;544;544	ENSP00000262835:D503G;ENSP00000419171:D544G;ENSP00000339787:D544G	ENSP00000339787:D544G	D	-	2	0	ACSL4	108793170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.035000	0.88872	1.846000	0.53633	0.486000	0.48141	GAT		0.378	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	0	NM_004458		X:108906514
MDGA2	161357	broad.mit.edu	37	14	47426671	47426671	+	Silent	SNP	G	G	A	rs368219229		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:47426671G>A	ENST00000399232.2	-	9	2152	c.1788C>T	c.(1786-1788)taC>taT	p.Y596Y	MDGA2_ENST00000426342.1_Silent_p.Y367Y|MDGA2_ENST00000439988.3_Silent_p.Y665Y|SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000357362.3_Silent_p.Y367Y	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	596	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTTCACAGCGTACTCTGTGT	0.443																																						ENST00000426342.1		NA																	0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1099-1101)taC>taT		MAM domain containing glycosylphosphatidylinositol anchor 2		G	,	0,3798		0,0,1899	98.0	96.0	97.0		1995,1101	2.7	1.0	14		97	1,8243		0,1,4121	no	coding-synonymous,coding-synonymous	MDGA2	NM_001113498.2,NM_182830.3	,	0,1,6020	AA,AG,GG		0.0121,0.0,0.0083	,	665/1026,367/728	47426671	1,12041	1899	4122	6021	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426671G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1788C>T	14.37:g.47426671G>A		False	False		Somatic	0				MDGA2_ENST00000399232.2_Silent_p.Y596Y|MDGA2_ENST00000439988.3_Silent_p.Y665Y|MDGA2_ENST00000357362.3_Silent_p.Y367Y	p.Y367Y	NM_182830.3	NP_878250.2	WXS	Illumina HiSeq	Phase_I	Q7Z553	MDGA2_HUMAN			9	1847	-			596			Ig-like 4.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1101C>T																																																																																					0.443	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	0	NM_182830		14:47426671
DGCR2	9993	broad.mit.edu	37	22	19035956	19035956	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19035956G>A	ENST00000263196.7	-	7	1250	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	DGCR11_ENST00000609958.1_RNA|DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	335					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GTCTCACCTGGGTCCAGACAC	0.587																																						ENST00000263196.7		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(1003-1005)Cca>Tca		DiGeorge syndrome critical region gene 2							153.0	154.0	154.0					22																	19035956		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19035956G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1003C>T	22.37:g.19035956G>A	ENSP00000263196:p.Pro335Ser	True	False		Somatic	0				DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S|DGCR2_ENST00000545799.1_3'UTR	p.P335S	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	WXS	Illumina HiSeq	Phase_I	P98153	IDD_HUMAN			7	1250	-	Colorectal(54;0.0993)		335					A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.1003C>T	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711467	0.68730	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97114	0.87;-4.25	5.8	5.8	0.92144	.	0.100398	0.64402	D	0.000001	D	0.95338	0.8487	L	0.46157	1.445	0.80722	D	1	P;P	0.41232	0.743;0.485	B;B	0.38755	0.281;0.146	D	0.94464	0.7679	10	0.34782	T	0.22	.	19.6734	0.95921	0.0:0.0:1.0:0.0	.	291;335	B7Z3T5;P98153	.;IDD_HUMAN	S	294;335	ENSP00000440062:P294S;ENSP00000263196:P335S	ENSP00000263196:P335S	P	-	1	0	DGCR2	17415956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.485000	0.73625	2.735000	0.93741	0.655000	0.94253	CCA		0.587	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	0	NM_005137		22:19035956
POLR2A	5430	broad.mit.edu	37	17	7416998	7416998	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:7416998C>T	ENST00000322644.6	+	29	5814	c.5415C>T	c.(5413-5415)tcC>tcT	p.S1805S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1805	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAAGTTACTCCCCTTCCAGCC	0.572																																						ENST00000322644.6		NA																	0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5413-5415)tcC>tcT		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							468.0	447.0	454.0					17																	7416998		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7416998C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5415C>T	17.37:g.7416998C>T		True	False		Somatic	0					p.S1805S	NM_000937.4	NP_000928	WXS	Illumina HiSeq	Phase_I	P24928	RPB1_HUMAN			29	5814	+		Prostate(122;0.173)	1805			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.5415C>T	CCDS32548.1																																																																																				0.572	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	0	NM_000937		17:7416998
FBXO40	51725	broad.mit.edu	37	3	121340995	121340995	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:121340995G>A	ENST00000338040.4	+	3	1133	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	240					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGCTGTGAGAGCAAGAACAAG	0.458																																						ENST00000338040.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(718-720)aGc>aAc		F-box protein 40							68.0	74.0	72.0					3																	121340995		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340995G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.719G>A	3.37:g.121340995G>A	ENSP00000337510:p.Ser240Asn	False	False		Somatic	0					p.S240N	NM_016298.3	NP_057382.2	WXS	Illumina HiSeq	Phase_I	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1133	+			240					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.719G>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041439	0.02013	.	.	ENSG00000163833	ENST00000338040	T	0.43688	0.94	5.64	2.3	0.28687	.	1.305700	0.04337	N	0.353342	T	0.22475	0.0542	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.19647	-1.0299	10	0.17832	T	0.49	-0.1509	4.5317	0.12008	0.3425:0.1562:0.5013:0.0	.	240	Q9UH90	FBX40_HUMAN	N	240	ENSP00000337510:S240N	ENSP00000337510:S240N	S	+	2	0	FBXO40	122823685	0.057000	0.20700	0.014000	0.15608	0.512000	0.34134	0.903000	0.28475	0.121000	0.18284	0.591000	0.81541	AGC		0.458	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	0	NM_016298		3:121340995
RYR1	6261	broad.mit.edu	37	19	39070714	39070714	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:39070714G>A	ENST00000359596.3	+	100	14457	c.14457G>A	c.(14455-14457)atG>atA	p.M4819I	RYR1_ENST00000355481.4_Missense_Mutation_p.M4814I|RYR1_ENST00000360985.3_Missense_Mutation_p.M4814I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4819					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACATCGCCATGGGGGTCAAGA	0.597																																						ENST00000355481.4		NA																	0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(14440-14442)atG>atA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						134.0	93.0	107.0					19																	39070714		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39070714G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14457G>A	19.37:g.39070714G>A	ENSP00000352608:p.Met4819Ile	True	False		Somatic	0				RYR1_ENST00000359596.3_Missense_Mutation_p.M4819I|RYR1_ENST00000360985.3_Missense_Mutation_p.M4814I	p.M4814I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina HiSeq	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		99	14573	+	all_cancers(60;7.91e-06)		4819		L -> F (in CCD).			Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14442G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962210	0.53400	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98400	-4.91;-4.91;-4.91	4.57	4.57	0.56435	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98040	0.9354	L	0.38953	1.18	0.58432	D	0.999997	D;D	0.54964	0.962;0.969	D;D	0.70227	0.946;0.968	D	0.98600	1.0658	10	0.46703	T	0.11	.	17.129	0.86722	0.0:0.0:1.0:0.0	.	4814;4819	P21817-2;P21817	.;RYR1_HUMAN	I	4819;4814;4814	ENSP00000352608:M4819I;ENSP00000347667:M4814I;ENSP00000354254:M4814I	ENSP00000347667:M4814I	M	+	3	0	RYR1	43762554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.612000	0.98347	2.357000	0.79964	0.462000	0.41574	ATG		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0			19:39070714
RDX	5962	broad.mit.edu	37	11	110108333	110108333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:110108333G>A	ENST00000343115.4	-	11	1454	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Nonsense_Mutation_p.R379*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	379	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GCTCGTTTTCGTTCTTGATCC	0.423																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4		NA																	0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1135-1137)Cga>Tga		radixin							183.0	175.0	177.0					11																	110108333		2201	4298	6499	SO:0001587	stop_gained	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110108333G>A	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1135C>T	11.37:g.110108333G>A	ENSP00000342830:p.Arg379*	False	False		Somatic	0				RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R379*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000530301.1_Intron	p.R379*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	WXS	Illumina HiSeq	Phase_I	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	11	1454	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	379			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Nonsense_Mutation	SNP	ENST00000343115.4	37	c.1135C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	41	8.635797	0.98895	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.78	3.73	0.42828	.	0.148841	0.44688	D	0.000430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	14.0536	0.64754	0.0:0.0:0.6747:0.3253	.	.	.	.	X	379;379;32;379;243;49	.	ENSP00000342830:R379X	R	-	1	2	RDX	109613543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.822000	0.48073	2.730000	0.93505	0.650000	0.86243	CGA		0.423	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	0	NM_002906		11:110108333
EHHADH	1962	broad.mit.edu	37	3	184910478	184910478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:184910478G>A	ENST00000231887.3	-	7	1783	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R474*|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	570	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGGCCAAATCGTCCTAATTCA	0.473																																						ENST00000231887.3		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1708-1710)Cga>Tga		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						91.0	81.0	84.0					3																	184910478		2203	4300	6503	SO:0001587	stop_gained	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910478G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1708C>T	3.37:g.184910478G>A	ENSP00000231887:p.Arg570*	False	False		Somatic	0				EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R474*	p.R570*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina HiSeq	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1783	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		570			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	ENST00000231887.3	37	c.1708C>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	39	7.633440	0.98403	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	.	.	.	5.91	-0.0269	0.13928	.	0.058373	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3739	17.2992	0.87177	0.0:0.0:0.3145:0.6855	.	.	.	.	X	570;474	.	ENSP00000231887:R570X	R	-	1	2	EHHADH	186393172	1.000000	0.71417	0.893000	0.35052	0.999000	0.98932	1.576000	0.36504	0.050000	0.15949	0.655000	0.94253	CGA		0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1	0			3:184910478
TRPC7	57113	broad.mit.edu	37	5	135692940	135692940	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:135692940G>A	ENST00000513104.1	-	2	418	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	46					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCAGGAAGCGCTCCTCCTCG	0.612																																						ENST00000513104.1		NA																	0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(136-138)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 7							90.0	101.0	97.0					5																	135692940		2131	4259	6390	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692940G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.136C>T	5.37:g.135692940G>A	ENSP00000426070:p.Arg46Cys	True	False		Somatic	0				TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C	p.R46C	NM_020389.2	NP_065122.1	WXS	Illumina HiSeq	Phase_I	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	418	-			46					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.136C>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.814083|4.814083	0.90790|0.90790	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.79247	.|-1.09;-1.25;-1.21	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85327|0.85327	0.5671|0.5671	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999993|0.999993	.|P;D;D;D	.|0.89917	.|0.916;1.0;0.999;0.999	.|B;D;P;P	.|0.65010	.|0.232;0.931;0.899;0.899	D|D	0.86290|0.86290	0.1673|0.1673	5|10	.|0.72032	.|D	.|0.01	-15.4883|-15.4883	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|46;46;46;46	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	V|C	45|46	.|ENSP00000347312:R46C;ENSP00000441628:R46C;ENSP00000426070:R46C	.|ENSP00000265193:R46C	A|R	-|-	2|1	0|0	TRPC7|TRPC7	135720839|135720839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.761000|7.761000	0.85260|0.85260	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.612	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	0	NM_020389		5:135692940
ARHGAP36	158763	broad.mit.edu	37	X	130215846	130215846	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:130215846C>A	ENST00000276211.5	+	2	552	c.207C>A	c.(205-207)caC>caA	p.H69Q	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H57Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	69					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTTACCACGAACTCGTGG	0.577																																						ENST00000276211.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(205-207)caC>caA		Rho GTPase activating protein 36							112.0	98.0	103.0					X																	130215846		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130215846C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.207C>A	X.37:g.130215846C>A	ENSP00000276211:p.His69Gln	False	False		Somatic	0				ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H57Q	p.H69Q	NM_144967.3	NP_659404.2	WXS	Illumina HiSeq	Phase_I	Q6ZRI8	RHG36_HUMAN			2	552	+			69					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.207C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436770	0.25900	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.09255	3.0;3.0;3.01	4.36	-2.17	0.07059	.	0.475884	0.18258	N	0.146730	T	0.04363	0.0120	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.44050	-0.9353	10	0.22706	T	0.39	.	1.0036	0.01482	0.4372:0.2288:0.1417:0.1922	.	38;57;69	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	69;57;21;38	ENSP00000276211:H69Q;ENSP00000359960:H57Q;ENSP00000408515:H38Q	ENSP00000276211:H69Q	H	+	3	2	ARHGAP36	130043527	0.778000	0.28640	0.937000	0.37676	0.976000	0.68499	-0.888000	0.04148	-0.670000	0.05282	-0.268000	0.10319	CAC		0.577	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	0	NM_144967		X:130215846
RNF43	54894	broad.mit.edu	37	17	56434978	56434978	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56434978G>A	ENST00000584437.1	-	8	4114	c.2159C>T	c.(2158-2160)tCa>tTa	p.S720L	RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L			Q68DV7	RNF43_HUMAN	ring finger protein 43	720	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGAATTTGAGTAACAGGG	0.592																																						ENST00000584437.1		NA																	0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(2158-2160)tCa>tTa		ring finger protein 43							83.0	88.0	86.0					17																	56434978		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434978G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2159C>T	17.37:g.56434978G>A	ENSP00000463069:p.Ser720Leu	True	False		Somatic	0				RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L|BZRAP1-AS1_ENST00000583841.1_RNA	p.S720L			WXS	Illumina HiSeq	Phase_I	Q68DV7	RNF43_HUMAN			8	4114	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		720			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2159C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720039	0.48728	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08807	3.19;3.05	5.71	5.71	0.89125	.	0.652107	0.13771	N	0.363914	T	0.10337	0.0253	N	0.19112	0.55	0.25753	N	0.985036	B;P;B	0.41131	0.13;0.739;0.079	B;P;B	0.45232	0.149;0.474;0.071	T	0.20940	-1.0260	10	0.66056	D	0.02	-8.0908	15.33	0.74200	0.0:0.0:1.0:0.0	.	679;720;720	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	720;679	ENSP00000385328:S720L;ENSP00000441969:S679L	ENSP00000385328:S720L	S	-	2	0	RNF43	53789977	1.000000	0.71417	0.989000	0.46669	0.968000	0.65278	3.986000	0.56937	2.698000	0.92095	0.511000	0.50034	TCA		0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	0	NM_017763		17:56434978
OPRK1	4986	broad.mit.edu	37	8	54142191	54142191	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:54142191C>T	ENST00000265572.3	-	4	1106	c.809G>A	c.(808-810)cGt>cAt	p.R270H	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	270					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGTGATCCTACGCAGGTTGCG	0.572																																						ENST00000265572.3		NA																	0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(808-810)cGt>cAt		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						78.0	83.0	81.0					8																	54142191		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142191C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.809G>A	8.37:g.54142191C>T	ENSP00000265572:p.Arg270His	False	False		Somatic	0				RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H|OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H	p.R270H	NM_000912.3	NP_000903.2	WXS	Illumina HiSeq	Phase_I	P41145	OPRK_HUMAN			4	1106	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	270					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.809G>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017222	0.54576	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.73681	-0.77;-0.77;-0.77	5.8	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.047781	0.85682	D	0.000000	D	0.87176	0.6112	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89336	0.3650	10	0.87932	D	0	.	16.2563	0.82519	0.1338:0.8662:0.0:0.0	.	270	P41145	OPRK_HUMAN	H	270;181;270;256	ENSP00000265572:R270H;ENSP00000430923:R181H;ENSP00000429706:R270H	ENSP00000265572:R270H	R	-	2	0	OPRK1	54304744	1.000000	0.71417	0.055000	0.19348	0.004000	0.04260	7.818000	0.86416	1.433000	0.47394	-0.188000	0.12872	CGT		0.572	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1	0			8:54142191
OSBPL11	114885	broad.mit.edu	37	3	125279224	125279224	+	Splice_Site	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:125279224C>A	ENST00000296220.5	-	8	1443	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	385					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATTACTTACTCTTGTTAAATC	0.383																																						ENST00000296220.5		NA																	0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1153-1155)aGa>aTa		oxysterol binding protein-like 11							159.0	138.0	145.0					3																	125279224		2203	4300	6503	SO:0001630	splice_region_variant	114885				lipid transport		lipid binding	g.chr3:125279224C>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1155+1G>T	3.37:g.125279224C>A		True	False		Somatic	0					p.R385I	NM_022776.4	NP_073613.2	WXS	Illumina HiSeq	Phase_I	Q9BXB4	OSB11_HUMAN			8	1443	-			385					A8K9I7	Splice_Site	SNP	ENST00000296220.5	37	c.1154G>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977820	0.74360	.	.	ENSG00000144909	ENST00000296220	T	0.34072	1.38	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.76451	-0.2954	10	0.87932	D	0	-26.5516	18.9367	0.92589	0.0:1.0:0.0:0.0	.	385	Q9BXB4	OSB11_HUMAN	I	385	ENSP00000296220:R385I	ENSP00000296220:R385I	R	-	2	0	OSBPL11	126761914	1.000000	0.71417	0.922000	0.36590	0.516000	0.34256	7.555000	0.82223	2.776000	0.95493	0.655000	0.94253	AGA		0.383	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	0	NM_022776	Missense_Mutation	3:125279224
C10orf53	282966	broad.mit.edu	37	10	50916592	50916592	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:50916592G>A	ENST00000374112.3	+	3	415	c.403G>A	c.(403-405)Gac>Aac	p.D135N	C10orf53_ENST00000535836.1_Missense_Mutation_p.D135N	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				caatctttgtgacctgggttg	0.488																																						ENST00000374112.3		NA																	0				endometrium(1)|lung(6)	7						c.(403-405)Gac>Aac		chromosome 10 open reading frame 53							126.0	126.0	126.0					10																	50916592		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50916592G>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.403G>A	10.37:g.50916592G>A	ENSP00000363226:p.Asp135Asn	False	False		Somatic	0				C10orf53_ENST00000535836.1_Missense_Mutation_p.D135N	p.D135N	NM_182554.2	NP_872360.2	WXS	Illumina HiSeq	Phase_I	Q8N6V4	CJ053_HUMAN			3	415	+		all_neural(218;0.107)	0					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374112.3	37	c.403G>A	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594908	0.28445	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	T	0.12987	0.0315	N	0.08118	0	0.09310	N	1	P	0.41947	0.766	B	0.33521	0.165	T	0.10268	-1.0637	8	0.87932	D	0	.	6.7374	0.23417	0.0:0.0:1.0:0.0	.	135	B9ZVK6	.	N	135	.	ENSP00000363226:D135N	D	+	1	0	C10orf53	50586598	0.028000	0.19301	0.022000	0.16811	0.046000	0.14306	0.550000	0.23345	1.229000	0.43630	0.491000	0.48974	GAC		0.488	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1	0	NM_182554		10:50916592
MRVI1	10335	broad.mit.edu	37	11	10622527	10622527	+	Missense_Mutation	SNP	G	G	A	rs376317552	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:10622527G>A	ENST00000436272.1	-	14	1952	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	MRVI1_ENST00000547195.1_Missense_Mutation_p.A561V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Missense_Mutation_p.A652V|LYVE1_ENST00000531706.1_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	625					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CATGAGCTCCGCATGGTCCTT	0.517													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21157	0.0		0.0	False		,,,				2504	0.001					ENST00000547195.1		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1681-1683)gCg>gTg		murine retrovirus integration site 1 homolog		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,3876		0,0,1938	191.0	186.0	187.0		1931,1682,1010,1337,1010,1955	5.4	1.0	11		187	1,8269		0,1,4134	no	missense,missense,missense,missense,missense,missense	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	64,64,64,64,64,64	0,1,6072	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	644/905,561/822,337/598,446/707,337/598,652/913	10622527	1,12145	1938	4135	6073	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10622527G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1874C>T	11.37:g.10622527G>A	ENSP00000412229:p.Ala625Val	False	False		Somatic	0				MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A625V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A652V	p.A561V	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	WXS	Illumina HiSeq	Phase_I	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	14	2182	-			625					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1682C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.484238	0.96307	0.0	1.21E-4	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.57075	-0.7873	10	0.72032	D	0.01	-10.4332	19.2679	0.93997	0.0:0.0:1.0:0.0	.	446;625;644;643	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	643;626;625;561;561;337;337;652;446;644;561	ENSP00000414598:A643V;ENSP00000412229:A625V;ENSP00000448278:A561V;ENSP00000446764:A561V;ENSP00000441971:A337V;ENSP00000401205:A337V;ENSP00000412130:A652V;ENSP00000437784:A446V;ENSP00000432436:A644V;ENSP00000432067:A561V	ENSP00000307885:A626V	A	-	2	0	MRVI1	10579103	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GCG		0.517	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		0	NM_001098579		11:10622527
GABRG2	2566	broad.mit.edu	37	5	161580182	161580182	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:161580182C>T	ENST00000361925.4	+	9	1432	c.1212C>T	c.(1210-1212)taC>taT	p.Y404Y	GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000356592.3_Silent_p.Y412Y			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	404					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGAAGAGTACGGCTATGAGT	0.488																																						ENST00000356592.3		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1234-1236)taC>taT		gamma-aminobutyric acid (GABA) A receptor, gamma 2							185.0	170.0	175.0					5																	161580182		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580182C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1212C>T	5.37:g.161580182C>T		False	False		Somatic	0				GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y|GABRG2_ENST00000414552.2_Silent_p.Y452Y	p.Y412Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	WXS	Illumina HiSeq	Phase_I	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	10	1696	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	404					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.1236C>T	CCDS4358.1																																																																																				0.488	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1	0			5:161580182
CHD6	84181	broad.mit.edu	37	20	40033309	40033309	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:40033309G>A	ENST00000373233.3	-	37	8249	c.8072C>T	c.(8071-8073)cCt>cTt	p.P2691L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2691					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCGGGCAAAGGGGCACTGGG	0.537																																						ENST00000373233.3		NA																	0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(8071-8073)cCt>cTt		chromodomain helicase DNA binding protein 6							110.0	119.0	116.0					20																	40033309		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033309G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.8072C>T	20.37:g.40033309G>A	ENSP00000362330:p.Pro2691Leu	True	False		Somatic	0				CHD6_ENST00000480022.1_5'UTR	p.P2691L	NM_032221.3	NP_115597.3	WXS	Illumina HiSeq	Phase_I	Q8TD26	CHD6_HUMAN			37	8249	-		Myeloproliferative disorder(115;0.00425)	2691					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.8072C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	0.782	-0.762079	0.02996	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	5.99	-1.45	0.08828	.	0.799456	0.11164	N	0.592701	T	0.68329	0.2989	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51872	-0.8650	10	0.20519	T	0.43	0.3624	7.7246	0.28753	0.1983:0.0893:0.6218:0.0906	.	2691	Q8TD26	CHD6_HUMAN	L	2691	ENSP00000362330:P2691L	ENSP00000362330:P2691L	P	-	2	0	CHD6	39466723	0.115000	0.22152	0.002000	0.10522	0.007000	0.05969	2.706000	0.47135	-0.113000	0.11958	-1.004000	0.02495	CCT		0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1	0			20:40033309
KCTD7	154881	broad.mit.edu	37	7	66103879	66103879	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:66103879G>A	ENST00000275532.3	+	4	714	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	177					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R177H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCCGGCTGCGTGCGGTCCAG	0.577																																						ENST00000275532.3		NA																	1	Substitution - Missense(1)	p.R177H(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(529-531)cGt>cAt		potassium channel tetramerization domain containing 7							62.0	63.0	63.0					7																	66103879		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66103879G>A	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.530G>A	7.37:g.66103879G>A	ENSP00000275532:p.Arg177His	True	False		Somatic	0				KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	WXS	Illumina HiSeq	Phase_I	Q96MP8	KCTD7_HUMAN			4	714	+			177					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.530G>A	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	g	34	5.320885	0.95682	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.79033	-1.23;-1.23	5.36	5.36	0.76844	.	.	.	.	.	T	0.79411	0.4441	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.51170	0.661	T	0.80476	-0.1366	9	0.52906	T	0.07	.	18.4294	0.90620	0.0:0.0:1.0:0.0	.	177	Q96MP8	KCTD7_HUMAN	H	177	ENSP00000275532:R177H;ENSP00000411624:R177H	ENSP00000275532:R177H	R	+	2	0	KCTD7	65741314	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	9.097000	0.94193	2.675000	0.91044	0.655000	0.94253	CGT		0.577	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	0	NM_153033		7:66103879
DNER	92737	broad.mit.edu	37	2	230377562	230377562	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:230377562C>T	ENST00000341772.4	-	6	1218	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	362	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATACAGCTCGCGTTGTTTTGG	0.438																																						ENST00000341772.4		NA																	0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1084-1086)Gcg>Acg		delta/notch-like EGF repeat containing							226.0	187.0	200.0					2																	230377562		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230377562C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1084G>A	2.37:g.230377562C>T	ENSP00000345229:p.Ala362Thr	False	False		Somatic	0					p.A362T	NM_139072.3	NP_620711.3	WXS	Illumina HiSeq	Phase_I	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	6	1218	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	362			EGF-like 4.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1084G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281809	0.59758	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.94232	-3.38	5.76	5.76	0.90799	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.221819	0.45867	D	0.000328	D	0.95082	0.8407	M	0.77486	2.375	0.27064	N	0.963488	D	0.57899	0.981	P	0.50049	0.629	D	0.91199	0.4990	10	0.72032	D	0.01	.	18.7207	0.91692	0.0:1.0:0.0:0.0	.	362	Q8NFT8	DNER_HUMAN	T	362;90	ENSP00000345229:A362T	ENSP00000345229:A362T	A	-	1	0	DNER	230085806	0.921000	0.31238	0.021000	0.16686	0.046000	0.14306	5.864000	0.69575	2.724000	0.93272	0.591000	0.81541	GCG		0.438	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	0	NM_139072		2:230377562
PHIP	55023	broad.mit.edu	37	6	79711802	79711802	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:79711802G>A	ENST00000275034.4	-	17	1860	c.1693C>T	c.(1693-1695)Ctt>Ttt	p.L565F		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	565					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCACGAATAAGTGGCCGATAA	0.358																																						ENST00000275034.4		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1693-1695)Ctt>Ttt		pleckstrin homology domain interacting protein							113.0	104.0	107.0					6																	79711802		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79711802G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1693C>T	6.37:g.79711802G>A	ENSP00000275034:p.Leu565Phe	False	False		Somatic	0					p.L565F	NM_017934.5	NP_060404	WXS	Illumina HiSeq	Phase_I	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	17	1860	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	565					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1693C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950918	0.73787	.	.	ENSG00000146247	ENST00000275034	T	0.61392	0.11	5.63	4.75	0.60458	.	0.088632	0.45867	D	0.000337	T	0.77890	0.4198	M	0.92604	3.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.82327	-0.0512	9	.	.	.	-16.7819	14.5837	0.68310	0.074:0.0:0.926:0.0	.	565;565	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	565	ENSP00000275034:L565F	.	L	-	1	0	PHIP	79768521	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	6.205000	0.72148	2.799000	0.96334	0.650000	0.86243	CTT		0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	0			6:79711802
GNB2	2783	broad.mit.edu	37	7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	rs147810006		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	268					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCCCATGACAACATCATCTGT	0.607																																						ENST00000303210.4		NA																	0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(802-804)aAc>aTc		guanine nucleotide binding protein (G protein), beta polypeptide 2		A	ILE/ASN	0,4406		0,0,2203	60.0	60.0	60.0		803	4.4	1.0	7	dbSNP_134	60	2,8598		0,2,4298	no	missense	GNB2	NM_005273.3	149	0,2,6501	TT,TA,AA		0.0233,0.0,0.0154	possibly-damaging	268/341	100276124	2,13004	2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100276124A>T	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.803A>T	7.37:g.100276124A>T	ENSP00000305260:p.Asn268Ile	False	False		Somatic	0				GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I	p.N268I	NM_005273.3	NP_005264.2	WXS	Illumina HiSeq	Phase_I	P62879	GBB2_HUMAN			9	1285	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	268					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.803A>T	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.125242	0.77436	0.0	2.33E-4	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;D;D;D;D;T;T	0.82619	5.0;-1.63;-1.63;-1.63;-1.63;5.0;5.0	5.67	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.75264	2.295	0.58432	D	0.999996	B	0.32409	0.37	P	0.44732	0.459	D	0.86865	0.2032	10	0.72032	D	0.01	-11.881	10.667	0.45736	0.8397:0.1603:0.0:0.0	.	268	P62879	GBB2_HUMAN	I	268;224;224;168;168;268;268	ENSP00000305260:N268I;ENSP00000401873:N224I;ENSP00000389391:N224I;ENSP00000390543:N168I;ENSP00000400286:N168I;ENSP00000377503:N268I;ENSP00000377501:N268I	ENSP00000305260:N268I	N	+	2	0	GNB2	100114060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.846000	0.39289	2.174000	0.68829	0.454000	0.30748	AAC		0.607	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	0	NM_005273		7:100276124
CCT8L2	150160	broad.mit.edu	37	22	17072527	17072527	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:17072527G>T	ENST00000359963.3	-	1	1173	c.914C>A	c.(913-915)aCa>aAa	p.T305K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	305					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCCGCCAGTGTGAGGGTCTC	0.517																																						ENST00000359963.3		NA																	0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(913-915)aCa>aAa		chaperonin containing TCP1, subunit 8 (theta)-like 2							194.0	172.0	179.0					22																	17072527		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072527G>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.914C>A	22.37:g.17072527G>T	ENSP00000353048:p.Thr305Lys	False	False		Somatic	0					p.T305K	NM_014406.4	NP_055221.1	WXS	Illumina HiSeq	Phase_I	Q96SF2	TCPQM_HUMAN			1	1173	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	305					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.914C>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	6.540	0.467967	0.12402	.	.	ENSG00000198445	ENST00000359963	T	0.74526	-0.85	1.98	-1.43	0.08884	.	1.219940	0.06186	U	0.680487	T	0.64327	0.2588	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.53954	-0.8365	10	0.87932	D	0	-0.7241	5.2737	0.15638	0.5034:0.0:0.4966:0.0	.	305	Q96SF2	TCPQM_HUMAN	K	305	ENSP00000353048:T305K	ENSP00000353048:T305K	T	-	2	0	CCT8L2	15452527	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.513000	0.06305	-0.295000	0.08960	-1.325000	0.01285	ACA		0.517	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1	0			22:17072527
MUC16	94025	broad.mit.edu	37	19	9058858	9058858	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:9058858C>G	ENST00000397910.4	-	3	28791	c.28588G>C	c.(28588-28590)Gag>Cag	p.E9530Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9532	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAGTTCCTCTGTAGCACTG	0.483																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28588-28590)Gag>Cag		mucin 16, cell surface associated							116.0	116.0	116.0					19																	9058858		1961	4150	6111	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058858C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28588G>C	19.37:g.9058858C>G	ENSP00000381008:p.Glu9530Gln	False	False		Somatic	0					p.E9530Q	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			3	28791	-			9532			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28588G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.207	0.223796	0.09863	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.3	-0.0756	0.13726	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	.	.	.	B	0.16603	0.018	B	0.17979	0.02	T	0.16748	-1.0392	8	0.87932	D	0	.	8.0918	0.30805	0.0:0.5336:0.4664:0.0	.	9530	B5ME49	.	Q	9530	ENSP00000381008:E9530Q	ENSP00000381008:E9530Q	E	-	1	0	MUC16	8919858	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.149000	0.10204	0.072000	0.16694	0.305000	0.20034	GAG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9058858
VBP1	7411	broad.mit.edu	37	X	154464621	154464621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:154464621C>T	ENST00000286428.5	+	5	613	c.496C>T	c.(496-498)Cga>Tga	p.R166*	VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	166					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)		p.R166G(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGACTTTCTTCGAGATCAATT	0.353																																						ENST00000286428.5		NA																	1	Substitution - Missense(1)	p.R166G(1)	NS(1)	NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(496-498)Cga>Tga		von Hippel-Lindau binding protein 1							104.0	97.0	100.0					X																	154464621		2203	4300	6503	SO:0001587	stop_gained	7411				'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	g.chrX:154464621C>T	U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.496C>T	X.37:g.154464621C>T	ENSP00000286428:p.Arg166*	False	False		Somatic	0				VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*|VBP1_ENST00000459836.1_3'UTR	p.R166*	NM_003372.5	NP_003363.1	WXS	Illumina HiSeq	Phase_I	P61758	PFD3_HUMAN			5	613	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		166					B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Nonsense_Mutation	SNP	ENST00000286428.5	37	c.496C>T	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	C	37	6.295580	0.97449	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	.	.	.	4.86	4.86	0.63082	.	0.109676	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9083	10.1751	0.42933	0.1991:0.8008:0.0:0.0	.	.	.	.	X	161;166	.	ENSP00000286428:R166X	R	+	1	2	VBP1	154117815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.440000	0.52886	2.324000	0.78689	0.594000	0.82650	CGA		0.353	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1	0			X:154464621
MYH4	4622	broad.mit.edu	37	17	10350494	10350494	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:10350494C>T	ENST00000255381.2	-	35	5115	c.5005G>A	c.(5005-5007)Gat>Aat	p.D1669N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1669					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.D1669N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAAGGTCATCTTGGCCTCTG	0.478																																						ENST00000255381.2		NA																	1	Substitution - Missense(1)	p.D1669N(1)	central_nervous_system(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5005-5007)Gat>Aat		myosin, heavy chain 4, skeletal muscle							129.0	106.0	113.0					17																	10350494		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350494C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5005G>A	17.37:g.10350494C>T	ENSP00000255381:p.Asp1669Asn	False	False		Somatic	0				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.D1669N	NM_017533.2	NP_060003.2	WXS	Illumina HiSeq	Phase_I	Q9Y623	MYH4_HUMAN			35	5115	-			1669						Missense_Mutation	SNP	ENST00000255381.2	37	c.5005G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200015	0.94997	.	.	ENSG00000141048	ENST00000255381	T	0.79845	-1.31	5.29	5.29	0.74685	Myosin tail (1);	0.189171	0.25052	U	0.033501	D	0.86226	0.5882	M	0.85197	2.74	0.52099	D	0.999943	P	0.37781	0.608	B	0.42462	0.388	D	0.88012	0.2763	10	0.72032	D	0.01	.	19.286	0.94069	0.0:1.0:0.0:0.0	.	1669	Q9Y623	MYH4_HUMAN	N	1669	ENSP00000255381:D1669N	ENSP00000255381:D1669N	D	-	1	0	MYH4	10291219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.763000	0.85283	2.646000	0.89796	0.563000	0.77884	GAT		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	0	NM_017533		17:10350494
KIAA1919	91749	broad.mit.edu	37	6	111585122	111585122	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:111585122G>T	ENST00000368847.4	+	3	639	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	96					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTCTATCTTCGGTGTTTCAAT	0.428																																						ENST00000368847.4		NA																	0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(286-288)Ggt>Tgt		KIAA1919							198.0	184.0	189.0					6																	111585122		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111585122G>T	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.286G>T	6.37:g.111585122G>T	ENSP00000357840:p.Gly96Cys	False	False		Somatic	0					p.G96C	NM_153369.2	NP_699200.2	WXS	Illumina HiSeq	Phase_I	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	3	639	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	96					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.286G>T	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523947	0.64747	.	.	ENSG00000173214	ENST00000368847	T	0.77877	-1.13	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90031	0.4135	10	0.87932	D	0	-18.7946	20.0591	0.97667	0.0:0.0:1.0:0.0	.	96	Q5TF39	NAGT1_HUMAN	C	96	ENSP00000357840:G96C	ENSP00000357840:G96C	G	+	1	0	KIAA1919	111691815	1.000000	0.71417	0.693000	0.30195	0.038000	0.13279	8.978000	0.93450	2.747000	0.94245	0.462000	0.41574	GGT		0.428	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	0	NM_153369		6:111585122
PLEKHG1	57480	broad.mit.edu	37	6	151121938	151121938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:151121938C>A	ENST00000358517.2	+	6	924	c.713C>A	c.(712-714)tCg>tAg	p.S238*	PLEKHG1_ENST00000367328.1_Nonsense_Mutation_p.S238*			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	238	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						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)		CTGAAACACTCGCTGCCTCTG	0.498																																						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.(712-714)tCg>tAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							122.0	120.0	120.0					6																	151121938		2203	4300	6503	SO:0001587	stop_gained	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151121938C>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.713C>A	6.37:g.151121938C>A	ENSP00000351318:p.Ser238*	False	False		Somatic	0				PLEKHG1_ENST00000358517.2_Nonsense_Mutation_p.S238*	p.S238*	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)	7	1025	+			238			DH.		Q5T1F2	Nonsense_Mutation	SNP	ENST00000358517.2	37	c.713C>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	39	7.723855	0.98453	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	6.16	5.3	0.74995	.	0.053244	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4253	0.75045	0.0:0.934:0.0:0.066	.	.	.	.	X	238	.	ENSP00000351318:S238X	S	+	2	0	PLEKHG1	151163631	1.000000	0.71417	0.837000	0.33122	0.491000	0.33493	7.818000	0.86416	1.623000	0.50342	0.650000	0.86243	TCG		0.498	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	0			6:151121938
OR2K2	26248	broad.mit.edu	37	9	114090184	114090184	+	Missense_Mutation	SNP	G	G	A	rs137871340	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:114090184G>A	ENST00000374428.1	-	1	616	c.617C>T	c.(616-618)aCg>aTg	p.T206M	OR2K2_ENST00000302681.1_Missense_Mutation_p.T177M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AATTTCACACGTGAAGTGATC	0.517													G|||	4	0.000798722	0.0	0.0	5008	,	,		21515	0.004		0.0	False		,,,				2504	0.0					ENST00000374428.1		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(616-618)aCg>aTg		olfactory receptor, family 2, subfamily K, member 2							81.0	75.0	77.0					9																	114090184		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090184G>A	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.617C>T	9.37:g.114090184G>A	ENSP00000363550:p.Thr206Met	False	False		Somatic	0				OR2K2_ENST00000302681.1_Missense_Mutation_p.T177M	p.T206M			WXS	Illumina HiSeq	Phase_I	Q8NGT1	OR2K2_HUMAN			1	616	-			206					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.617C>T		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	7.211	0.595400	0.13875	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00084	8.75;8.75	4.92	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000834	T	0.00144	0.0004	L	0.31926	0.97	0.18873	N	0.999982	D	0.89917	1.0	D	0.70716	0.97	T	0.52975	-0.8503	10	0.62326	D	0.03	.	3.5372	0.07798	0.2438:0.0:0.4545:0.3016	.	206	Q8NGT1	OR2K2_HUMAN	M	177;206	ENSP00000305055:T177M;ENSP00000363550:T206M	ENSP00000305055:T177M	T	-	2	0	OR2K2	113130005	0.000000	0.05858	0.023000	0.16930	0.086000	0.17979	0.148000	0.16224	0.096000	0.17463	-0.194000	0.12790	ACG		0.517	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		0	NM_205859		9:114090184
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A	rs561539227		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408																																						ENST00000296091.4		NA																	0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(913-915)Cga>Aga		zinc finger protein 502							164.0	170.0	168.0					3																	44763222		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763222C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.913C>A	3.37:g.44763222C>A		True	False		Somatic	0				ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	WXS	Illumina HiSeq	Phase_I	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1169	+			305						Silent	SNP	ENST00000296091.4	37	c.913C>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	0	NM_033210		3:44763222
F5	2153	broad.mit.edu	37	1	169519117	169519117	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:169519117G>C	ENST00000367797.3	-	10	1734	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	F5_ENST00000367796.3_Missense_Mutation_p.I511M|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	511	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTCTCTCATGATGTCCACGT	0.433																																						ENST00000367796.3		NA																	0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1531-1533)atC>atG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						210.0	187.0	195.0					1																	169519117		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519117G>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1533C>G	1.37:g.169519117G>C	ENSP00000356771:p.Ile511Met	False	False		Somatic	0				F5_ENST00000367797.3_Missense_Mutation_p.I511M|F5_ENST00000546081.1_3'UTR	p.I511M			WXS	Illumina HiSeq	Phase_I	P12259	FA5_HUMAN			10	1734	-	all_hematologic(923;0.208)		511			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1533C>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	9.285	1.049094	0.19827	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98602	-5.02;-5.02	5.71	0.262	0.15597	Cupredoxin (2);	0.596635	0.18720	N	0.133041	D	0.85600	0.5734	N	0.11064	0.09	0.25005	N	0.991444	B	0.26195	0.144	B	0.18263	0.021	T	0.74819	-0.3535	9	0.15066	T	0.55	-0.6017	7.1569	0.25643	0.2659:0.4684:0.2657:0.0	.	511	P12259	FA5_HUMAN	M	511	ENSP00000356771:I511M;ENSP00000356770:I511M	ENSP00000356770:I511M	I	-	3	3	F5	167785741	0.072000	0.21174	0.226000	0.23910	0.924000	0.55760	-0.367000	0.07553	0.060000	0.16281	-0.175000	0.13238	ATC		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	NM_000130		1:169519117
RPS6KC1	26750	broad.mit.edu	37	1	213415604	213415604	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213415604G>T	ENST00000366960.3	+	11	2935	c.2785G>T	c.(2785-2787)Gat>Tat	p.D929Y	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D717Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D632Y|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D917Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	929	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGTGTGCCGCGATTTGAACCC	0.438																																						ENST00000366960.3		NA																	0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2785-2787)Gat>Tat		ribosomal protein S6 kinase, 52kDa, polypeptide 1							88.0	92.0	90.0					1																	213415604		2192	4293	6485	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415604G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2785G>T	1.37:g.213415604G>T	ENSP00000355927:p.Asp929Tyr	False	False		Somatic	0				RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D717Y|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D632Y|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D917Y|RPS6KC1_ENST00000490299.1_3'UTR	p.D929Y	NM_012424.3	NP_036556.2	WXS	Illumina HiSeq	Phase_I	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2935	+			929			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2785G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653057	0.67472	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.098052	0.64402	D	0.000002	D	0.98191	0.9402	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98994	1.0809	10	0.87932	D	0	-14.4772	19.9598	0.97242	0.0:0.0:1.0:0.0	.	717;929;917	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	Y	717;929;917;632	ENSP00000442306:D717Y;ENSP00000355927:D929Y;ENSP00000355926:D917Y;ENSP00000439282:D632Y	ENSP00000355926:D917Y	D	+	1	0	RPS6KC1	211482227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.716000	0.92895	0.655000	0.94253	GAT		0.438	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	0	NM_012424		1:213415604
PPP2R1A	5518	broad.mit.edu	37	19	52714630	52714630	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52714630C>T	ENST00000322088.6	+	4	446	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	130	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.			P -> A (in Ref. 1; AAA35531). {ECO:0000305}.	apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCACTTTGTGCCGCTAGTGAA	0.657			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(388-390)Ccg>Tcg		protein phosphatase 2, regulatory subunit A, alpha							62.0	66.0	65.0					19																	52714630		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52714630C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.388C>T	19.37:g.52714630C>T	ENSP00000324804:p.Pro130Ser	False	False		Somatic	0				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR	p.P130S	NM_014225.5	NP_055040.2	WXS	Illumina HiSeq	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	4	446	+			130	P -> A (in Ref. 1; AAA35531).		PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.388C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624587	0.46840	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.35973	1.28;1.28	4.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.43897	0.1268	M	0.85373	2.75	0.58432	D	0.999999	P;P;P	0.37233	0.493;0.588;0.588	B;B;B	0.34301	0.179;0.102;0.102	T	0.56757	-0.7926	10	0.66056	D	0.02	-36.5931	15.0187	0.71609	0.0:1.0:0.0:0.0	.	75;130;130	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	S	120;130;75	ENSP00000324804:P130S;ENSP00000415067:P75S	ENSP00000324804:P130S	P	+	1	0	PPP2R1A	57406442	1.000000	0.71417	0.994000	0.49952	0.038000	0.13279	6.787000	0.75099	2.482000	0.83794	0.655000	0.94253	CCG		0.657	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	0	NM_014225		19:52714630
CXCR6	10663	broad.mit.edu	37	3	45988477	45988477	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:45988477C>A	ENST00000458629.1	+	1	1967	c.504C>A	c.(502-504)atC>atA	p.I168I	FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000438735.1_Silent_p.I168I|CXCR6_ENST00000304552.4_Silent_p.I168I|CXCR6_ENST00000457814.1_Silent_p.I168I|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000296137.2_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	168					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCAAATTATCTATGGCAATG	0.502																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)	ENST00000458629.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8						c.(502-504)atC>atA		chemokine (C-X-C motif) receptor 6							114.0	108.0	110.0					3																	45988477		2203	4300	6503	SO:0001819	synonymous_variant	10663				viral genome replication	integral to plasma membrane	coreceptor activity	g.chr3:45988477C>A	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.504C>A	3.37:g.45988477C>A		False	False		Somatic	0				CXCR6_ENST00000438735.1_Silent_p.I168I|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.I168I|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Silent_p.I168I	p.I168I			WXS	Illumina HiSeq	Phase_I	O00574	CXCR6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	1	1967	+			168					O00575|Q9HCA5	Silent	SNP	ENST00000458629.1	37	c.504C>A	CCDS2735.1																																																																																				0.502	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1	0			3:45988477
SPON1	10418	broad.mit.edu	37	11	14157106	14157106	+	RNA	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:14157106C>A	ENST00000310358.7	+	0	1352				RNA5SP332_ENST00000391063.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGAAGAAATTCGACAACAGGT	0.418																																						ENST00000310358.7		NA																	0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							80.0	78.0	79.0					11																	14157106		1884	4118	6002			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14157106C>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14157106C>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1352	+			NA					A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37																																																																																						0.418	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		0	NM_145584		11:14157106
NDUFV2	4729	broad.mit.edu	37	18	9126881	9126881	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:9126881G>A	ENST00000318388.6	+	7	746	c.632G>A	c.(631-633)gGc>gAc	p.G211D	RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.G214D|RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	211					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						CTCAAGGCTGGCAAAATCCCA	0.294																																						ENST00000400033.1		NA																	0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(640-642)gGc>gAc		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						123.0	147.0	139.0					18																	9126881		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9126881G>A	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.632G>A	18.37:g.9126881G>A	ENSP00000327268:p.Gly211Asp	False	False		Somatic	0				RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.G211D|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR	p.G214D			WXS	Illumina HiSeq	Phase_I	P19404	NDUV2_HUMAN			8	758	+			211					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.641G>A	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560585	0.65538	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.53206	0.63;0.63	5.41	5.41	0.78517	Thioredoxin-like fold (2);	0.045334	0.85682	D	0.000000	T	0.52805	0.1757	M	0.76328	2.33	0.80722	D	1	B	0.17465	0.022	B	0.22386	0.039	T	0.51474	-0.8701	10	0.48119	T	0.1	-9.1245	17.734	0.88387	0.0:0.0:1.0:0.0	.	211	P19404	NDUV2_HUMAN	D	211;214	ENSP00000327268:G211D;ENSP00000382908:G214D	ENSP00000327268:G211D	G	+	2	0	NDUFV2	9116881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.698000	0.98700	2.688000	0.91661	0.655000	0.94253	GGC		0.294	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	0	NM_021074		18:9126881
ZFYVE28	57732	broad.mit.edu	37	4	2355738	2355738	+	Silent	SNP	G	G	A	rs542809889	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2355738G>A	ENST00000290974.2	-	2	441	c.102C>T	c.(100-102)gcC>gcT	p.A34A	ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000503000.1_Silent_p.A34A|ZFYVE28_ENST00000511071.1_Silent_p.A34A|ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000515169.1_5'UTR	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	34					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCAGCTCCGCGGCCACCTGGT	0.677													g|||	7	0.00139776	0.0	0.0	5008	,	,		16128	0.001		0.0	False		,,,				2504	0.0061					ENST00000290974.2		NA																	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(100-102)gcC>gcT		zinc finger, FYVE domain containing 28							18.0	17.0	18.0					4																	2355738		2201	4300	6501	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2355738G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.102C>T	4.37:g.2355738G>A		False	False		Somatic	0				ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000503000.1_Silent_p.A34A|ZFYVE28_ENST00000511071.1_Silent_p.A34A	p.A34A	NM_020972.2	NP_066023.2	WXS	Illumina HiSeq	Phase_I	Q9HCC9	LST2_HUMAN			2	441	-			34					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.102C>T	CCDS33942.1																																																																																				0.677	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	0	XM_035371		4:2355738
ADAR	103	broad.mit.edu	37	1	154569625	154569625	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:154569625T>C	ENST00000368474.4	-	5	2252	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	ADAR_ENST00000368471.3_Missense_Mutation_p.T390A|ADAR_ENST00000292205.5_Missense_Mutation_p.T728A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	685					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATGGAGTTGGTCGCCTCCCCA	0.522																																						ENST00000368474.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2053-2055)Acc>Gcc		adenosine deaminase, RNA-specific							67.0	65.0	66.0					1																	154569625		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154569625T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2053A>G	1.37:g.154569625T>C	ENSP00000357459:p.Thr685Ala	False	False		Somatic	0				ADAR_ENST00000368471.3_Missense_Mutation_p.T390A|ADAR_ENST00000292205.5_Missense_Mutation_p.T728A	p.T685A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	WXS	Illumina HiSeq	Phase_I	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	5	2252	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		685					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2053A>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.14022	2.74;2.75;2.54;2.76	5.43	-3.95	0.04118	.	0.826008	0.10923	N	0.619176	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.47837	-0.9086	10	0.06625	T	0.88	-5.3793	9.0032	0.36094	0.1254:0.5779:0.0:0.2967	.	685;685;685	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	A	728;685;390;680	ENSP00000292205:T728A;ENSP00000357459:T685A;ENSP00000357456:T390A;ENSP00000431794:T680A	ENSP00000292205:T728A	T	-	1	0	ADAR	152836249	0.001000	0.12720	0.000000	0.03702	0.428000	0.31595	0.036000	0.13819	-0.609000	0.05724	0.533000	0.62120	ACC		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	0	NM_001111		1:154569625
C9orf72	203228	broad.mit.edu	37	9	27567059	27567059	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:27567059A>T	ENST00000380003.3	-	2	123	c.60T>A	c.(58-60)agT>agA	p.S20R	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Missense_Mutation_p.S20R	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	20					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GTGATTTGCCACTTAAAGCAA	0.458																																						ENST00000380003.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23						c.(58-60)agT>agA		chromosome 9 open reading frame 72							81.0	76.0	78.0					9																	27567059		2203	4300	6503	SO:0001583	missense	203228							g.chr9:27567059A>T	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.60T>A	9.37:g.27567059A>T	ENSP00000369339:p.Ser20Arg	False	False		Somatic	0				C9orf72_ENST00000379997.3_Missense_Mutation_p.S20R|C9orf72_ENST00000488117.1_5'UTR	p.S20R	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	WXS	Illumina HiSeq	Phase_I	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	2	123	-		all_neural(11;7.57e-10)	20					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	c.60T>A	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242614	0.39598	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.44083	0.93;0.93;0.93	5.99	5.99	0.97316	.	0.225686	0.53938	D	0.000046	T	0.22859	0.0552	N	0.08118	0	0.33621	D	0.604779	B;B	0.16603	0.018;0.011	B;B	0.18871	0.023;0.003	T	0.32587	-0.9901	9	.	.	.	.	11.5134	0.50507	0.931:0.0:0.069:0.0	.	20;20	Q96LT7-2;Q96LT7	.;CI072_HUMAN	R	20	ENSP00000369339:S20R;ENSP00000369333:S20R;ENSP00000369331:S20R	.	S	-	3	2	C9orf72	27557059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.511000	0.35801	2.291000	0.77112	0.533000	0.62120	AGT		0.458	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	0	NM_018325		9:27567059
INSRR	3645	broad.mit.edu	37	1	156824033	156824033	+	Missense_Mutation	SNP	C	C	T	rs558428940		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:156824033C>T	ENST00000368195.3	-	2	544	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	50					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTCCACCACGCTGCAGTTC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		20162	0.0		0.0	False		,,,				2504	0.001					ENST00000368195.3		NA																	0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(148-150)Gtg>Atg		insulin receptor-related receptor							49.0	50.0	49.0					1																	156824033		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156824033C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.148G>A	1.37:g.156824033C>T	ENSP00000357178:p.Val50Met	False	False		Somatic	0				NTRK1_ENST00000392302.2_Intron	p.V50M	NM_014215.2	NP_055030.1	WXS	Illumina HiSeq	Phase_I	P14616	INSRR_HUMAN			2	544	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		50					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.148G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450024	0.63290	.	.	ENSG00000027644	ENST00000368195	D	0.82081	-1.57	5.06	4.15	0.48705	EGF receptor, L domain (1);	0.000000	0.41294	D	0.000916	D	0.87939	0.6304	.	.	.	0.48341	D	0.999632	D	0.89917	1.0	D	0.81914	0.995	D	0.89318	0.3638	9	0.72032	D	0.01	.	11.4951	0.50404	0.0:0.9113:0.0:0.0887	.	50	P14616	INSRR_HUMAN	M	50	ENSP00000357178:V50M	ENSP00000357178:V50M	V	-	1	0	INSRR	155090657	0.646000	0.27295	0.893000	0.35052	0.832000	0.47134	1.287000	0.33284	1.146000	0.42352	-0.252000	0.11476	GTG		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	0	NM_014215		1:156824033
ABCA3	21	broad.mit.edu	37	16	2347398	2347398	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:2347398C>T	ENST00000301732.5	-	17	2895	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R674H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	732	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GATGGCGATGCGGTCTCCCAG	0.632																																						ENST00000301732.5		NA																	0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2194-2196)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 3							142.0	104.0	117.0					16																	2347398		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347398C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2195G>A	16.37:g.2347398C>T	ENSP00000301732:p.Arg732His	False	False		Somatic	0				ABCA3_ENST00000382381.3_Missense_Mutation_p.R674H	p.R732H	NM_001089.2	NP_001080.2	WXS	Illumina HiSeq	Phase_I	Q99758	ABCA3_HUMAN			17	2895	-		Ovarian(90;0.17)	732			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2195G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497450	0.96355	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	T	0.79247	-1.25	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.88026	0.2772	10	0.87932	D	0	.	19.4575	0.94900	0.0:1.0:0.0:0.0	.	732;736;732	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	H	732;736	ENSP00000301732:R732H	ENSP00000301732:R732H	R	-	2	0	ABCA3	2287399	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	0	NM_001089		16:2347398
FGF13	2258	broad.mit.edu	37	X	137793125	137793125	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:137793125C>G	ENST00000315930.6	-	1	702	c.41G>C	c.(40-42)aGg>aCg	p.R14T	FGF13_ENST00000541469.1_Intron|FGF13-AS1_ENST00000438238.1_RNA|FGF13_ENST00000305414.4_Intron|FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000441825.2_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	14	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCGGGCTTGCCTCTTCTGACG	0.597																																						ENST00000315930.6		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(40-42)aGg>aCg		fibroblast growth factor 13							84.0	80.0	82.0					X																	137793125		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137793125C>G	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.41G>C	X.37:g.137793125C>G	ENSP00000322390:p.Arg14Thr	False	False		Somatic	0				FGF13_ENST00000370603.3_Intron|FGF13_ENST00000541469.1_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000305414.4_Intron	p.R14T	NM_004114.3	NP_004105.1	WXS	Illumina HiSeq	Phase_I	Q92913	FGF13_HUMAN			1	702	-	Acute lymphoblastic leukemia(192;0.000127)		14					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.41G>C	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473036	0.84640	.	.	ENSG00000129682	ENST00000315930	D	0.84944	-1.92	4.29	4.29	0.51040	.	.	.	.	.	D	0.86464	0.5939	L	0.60455	1.87	0.80722	D	1	P	0.46277	0.875	P	0.48524	0.58	D	0.88447	0.3046	9	0.72032	D	0.01	.	15.3424	0.74309	0.0:1.0:0.0:0.0	.	14	Q92913	FGF13_HUMAN	T	14	ENSP00000322390:R14T	ENSP00000322390:R14T	R	-	2	0	FGF13	137620791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.318000	0.79029	1.889000	0.54706	0.529000	0.55759	AGG		0.597	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	0	NM_004114		X:137793125
COL11A1	1301	broad.mit.edu	37	1	103427802	103427802	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:103427802C>G	ENST00000370096.3	-	40	3356	c.3044G>C	c.(3043-3045)gGt>gCt	p.G1015A	COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1027A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1015	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)		CCCTGAGATACCTTGAGGACC	0.383																																						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.(3079-3081)gGt>gCt		collagen, type XI, alpha 1							85.0	87.0	87.0					1																	103427802		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.chr1:103427802C>G	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.3044G>C	1.37:g.103427802C>G	ENSP00000359114:p.Gly1015Ala	False	False		Somatic	0				COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1015A	p.G1027A	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)	40	3397	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1015		G -> R (in STL2).	Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3080G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822094	0.71028	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.37	5.37	0.77165	.	0.061018	0.64402	D	0.000003	D	0.99753	0.9901	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.997;0.998;0.998;0.995;0.994	D	0.97603	1.0124	10	0.59425	D	0.04	.	19.1062	0.93296	0.0:1.0:0.0:0.0	.	899;976;1027;1015;235	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1015;1027;976;235;899	ENSP00000359114:G1015A;ENSP00000351163:G1027A;ENSP00000302551:G976A;ENSP00000426533:G899A	ENSP00000302551:G976A	G	-	2	0	COL11A1	103200390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	2.509000	0.84616	0.557000	0.71058	GGT		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	0	NM_080630		1:103427802
LRRFIP2	9209	broad.mit.edu	37	3	37154441	37154441	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:37154441T>C	ENST00000336686.4	-	8	483	c.403A>G	c.(403-405)Aag>Gag	p.K135E	LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.K135E|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K104E|LRRFIP2_ENST00000421276.2_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	135	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GACCTCTTCTTCATTCCATGA	0.328																																						ENST00000421307.1		NA																	1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(403-405)Aag>Gag		leucine rich repeat (in FLII) interacting protein 2							123.0	126.0	125.0					3																	37154441		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37154441T>C	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.403A>G	3.37:g.37154441T>C	ENSP00000338727:p.Lys135Glu	False	False		Somatic	0				LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.K135E|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K104E	p.K135E	NM_006309.2	NP_006300.1	WXS	Illumina HiSeq	Phase_I	Q9Y608	LRRF2_HUMAN			9	825	-			135			DVL3-binding.|Ser-rich.		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.403A>G	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886492	0.51908	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.46063	0.88;0.88;1.21	5.31	5.31	0.75309	.	0.394787	0.25872	N	0.027745	T	0.30355	0.0762	N	0.14661	0.345	0.32566	N	0.530498	P;P	0.45348	0.762;0.856	B;B	0.42738	0.303;0.396	T	0.40794	-0.9544	10	0.40728	T	0.16	-25.7202	14.3757	0.66874	0.0:0.0:0.0:1.0	.	104;135	A8MXR0;Q9Y608	.;LRRF2_HUMAN	E	135;135;104	ENSP00000392217:K135E;ENSP00000338727:K135E;ENSP00000379705:K104E	ENSP00000338727:K135E	K	-	1	0	LRRFIP2	37129445	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.517000	0.67061	2.145000	0.66743	0.482000	0.46254	AAG		0.328	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	0	NM_006309		3:37154441
BMP1	649	broad.mit.edu	37	8	22054897	22054897	+	Missense_Mutation	SNP	G	G	A	rs200401797		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:22054897G>A	ENST00000306385.5	+	15	2741	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	BMP1_ENST00000306349.8_Missense_Mutation_p.V691M|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.V691M	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	691	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGACAACACCGTGTCCAAAAA	0.567																																						ENST00000306385.5		NA																	0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2071-2073)Gtg>Atg		bone morphogenetic protein 1		G	MET/VAL,MET/VAL	0,4406		0,0,2203	236.0	214.0	222.0		2071,2071	5.3	1.0	8		222	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BMP1	NM_001199.3,NM_006129.4	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	691/731,691/987	22054897	1,13005	2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054897G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2071G>A	8.37:g.22054897G>A	ENSP00000305714:p.Val691Met	False	False		Somatic	0				BMP1_ENST00000306349.8_Missense_Mutation_p.V691M|BMP1_ENST00000397816.3_Missense_Mutation_p.V691M|BMP1_ENST00000354870.5_3'UTR	p.V691M	NM_006129.4	NP_006120.1	WXS	Illumina HiSeq	Phase_I	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	15	2741	+			691			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2071G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895680	0.91962	0.0	1.16E-4	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	T;T;T	0.30981	1.51;1.51;1.51	5.29	5.29	0.74685	CUB (5);	0.000000	0.34853	U	0.003625	T	0.58836	0.2150	M	0.79343	2.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.993	T	0.63346	-0.6658	10	0.72032	D	0.01	.	17.6986	0.88289	0.0:0.0:1.0:0.0	.	691;764;691;691	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	M	691	ENSP00000305714:V691M;ENSP00000380917:V691M;ENSP00000306121:V691M	ENSP00000306121:V691M	V	+	1	0	BMP1	22110842	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.451000	0.82905	0.563000	0.77884	GTG		0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	0	NM_006132		8:22054897
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTAATGCCCTTCTCAGG	0.308																																						ENST00000435803.1		NA																	0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7102-7104)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							40.0	40.0	40.0					7																	48317894		1803	4069	5872	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48317894C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7103C>T	7.37:g.48317894C>T	ENSP00000411096:p.Ala2368Val	True	False		Somatic	0					p.A2368V	NM_152701.3	NP_689914.2	WXS	Illumina HiSeq	Phase_I	Q86UQ4	ABCAD_HUMAN			18	7127	+			2368					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7103C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	0	NM_152701		7:48317894
TRIM67	440730	broad.mit.edu	37	1	231339749	231339749	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:231339749A>G	ENST00000366653.5	+	6	1671	c.1671A>G	c.(1669-1671)ggA>ggG	p.G557G	TRIM67_ENST00000444294.3_Silent_p.G555G|TRIM67_ENST00000366652.2_Silent_p.G557G|TRIM67_ENST00000449018.3_Silent_p.G495G			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	557	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGCCGGGGGACAGTTCCGGG	0.637																																						ENST00000444294.3		NA																	0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1663-1665)ggA>ggG		tripartite motif containing 67							54.0	69.0	64.0					1																	231339749		2035	4177	6212	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339749A>G	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1671A>G	1.37:g.231339749A>G		True	False		Somatic	0				TRIM67_ENST00000366653.5_Silent_p.G557G|TRIM67_ENST00000366652.2_Silent_p.G557G|TRIM67_ENST00000449018.3_Silent_p.G495G	p.G555G	NM_001004342.3	NP_001004342.3	WXS	Illumina HiSeq	Phase_I	Q6ZTA4	TRI67_HUMAN			6	2523	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	557			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1665A>G	CCDS44333.1																																																																																				0.637	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	0	NM_001004342		1:231339749
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_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
NCOA6	23054	broad.mit.edu	37	20	33337236	33337236	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:33337236C>A	ENST00000374796.2	-	10	5332	c.2762G>T	c.(2761-2763)cGg>cTg	p.R921L	NCOA6_ENST00000359003.2_Missense_Mutation_p.R921L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	921	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTCTTCTTCCGAGGGGGTTT	0.358																																						ENST00000374796.2		NA																	0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2761-2763)cGg>cTg		nuclear receptor coactivator 6							96.0	95.0	95.0					20																	33337236		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337236C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2762G>T	20.37:g.33337236C>A	ENSP00000363929:p.Arg921Leu	True	False		Somatic	0				NCOA6_ENST00000359003.2_Missense_Mutation_p.R921L	p.R921L			WXS	Illumina HiSeq	Phase_I	Q14686	NCOA6_HUMAN			10	5332	-			921			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2762G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248337	0.80024	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.37584	1.19;1.19	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000008	T	0.51805	0.1696	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.47824	-0.9087	10	0.45353	T	0.12	-13.717	19.464	0.94931	0.0:1.0:0.0:0.0	.	921	Q14686	NCOA6_HUMAN	L	921	ENSP00000363929:R921L;ENSP00000351894:R921L	ENSP00000351894:R921L	R	-	2	0	NCOA6	32800897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.584000	0.87258	0.655000	0.94253	CGG		0.358	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	0	NM_014071		20:33337236
LARP4	113251	broad.mit.edu	37	12	50847262	50847262	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:50847262A>G	ENST00000398473.2	+	9	936	c.824A>G	c.(823-825)aAt>aGt	p.N275S	LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000518444.1_Missense_Mutation_p.N274S|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000518561.1_Missense_Mutation_p.N205S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	275	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AAAGCCATCAATACATTTTTT	0.308																																						ENST00000398473.2		NA																	0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(823-825)aAt>aGt		La ribonucleoprotein domain family, member 4							109.0	96.0	100.0					12																	50847262		1848	4091	5939	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50847262A>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.824A>G	12.37:g.50847262A>G	ENSP00000381490:p.Asn275Ser	False	False		Somatic	0				LARP4_ENST00000518444.1_Missense_Mutation_p.N274S|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000518561.1_Missense_Mutation_p.N205S	p.N275S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	WXS	Illumina HiSeq	Phase_I	Q71RC2	LARP4_HUMAN			9	936	+			275			RRM.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.824A>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926632	0.73327	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064	T;T;T;T;T;T	0.57595	1.24;0.94;0.92;0.39;0.89;0.5	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.74258	2.255	0.80722	D	1	D;D;D;D;P	0.69078	0.997;0.957;0.996;0.995;0.553	D;D;D;D;P	0.77557	0.985;0.914;0.99;0.956;0.627	T	0.72899	-0.4152	10	0.49607	T	0.09	.	13.3994	0.60874	1.0:0.0:0.0:0.0	.	176;274;275;275;281	Q71RC2-2;Q71RC2-3;G3XAA8;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	S	275;281;275;275;275;274;205;176	ENSP00000293618:N275S;ENSP00000415464:N281S;ENSP00000381490:N275S;ENSP00000429781:N275S;ENSP00000429077:N274S;ENSP00000430851:N205S	ENSP00000293618:N275S	N	+	2	0	LARP4	49133529	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.707000	0.91367	1.724000	0.51502	0.260000	0.18958	AAT		0.308	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	0	NM_052879		12:50847262
TTN	7273	broad.mit.edu	37	2	179434141	179434141	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179434141C>A	ENST00000591111.1	-	276	72019	c.71795G>T	c.(71794-71796)cGa>cTa	p.R23932L	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25573L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23932	Ig-like 120.				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)			ACTATCATATCGGTTGACATT	0.423																																						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.(76717-76719)cGa>cTa		titin							94.0	87.0	90.0					2																	179434141		1906	4114	6020	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434141C>A	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.71795G>T	2.37:g.179434141C>A	ENSP00000465570:p.Arg23932Leu	False	False		Somatic	0				TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23932L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.R25573L	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)		326	76942	-			23932			Fibronectin type-III 86.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.76718G>T		.	.	.	.	.	.	.	.	.	.	C	14.92	2.679673	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65913	0.2737	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.67114	-0.5752	9	0.87932	D	0	.	19.8644	0.96799	0.0:1.0:0.0:0.0	.	16508;16633;16700;23932	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	23005;16508;16700;16633;16506	ENSP00000343764:R23005L;ENSP00000434586:R16508L;ENSP00000340554:R16700L;ENSP00000352154:R16633L	ENSP00000340554:R16700L	R	-	2	0	TTN	179142387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179434141
TTN	7273	broad.mit.edu	37	2	179440550	179440550	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179440550C>T	ENST00000591111.1	-	276	65610	c.65386G>A	c.(65386-65388)Ggc>Agc	p.G21796S	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23437S|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21796				PGPVLN -> ARPSPQ (in Ref. 13; CAA45939). {ECO:0000305}.	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)	p.G14372C(1)|p.G20867C(1)		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)			AGGACTGGGCCTGGCGTGTCC	0.493																																						ENST00000589042.1		NA																	2	Substitution - Missense(2)	p.G14372C(1)|p.G20867C(1)	ovary(2)	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.(70309-70311)Ggc>Agc		titin							94.0	101.0	98.0					2																	179440550		2103	4242	6345	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440550C>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.65386G>A	2.37:g.179440550C>T	ENSP00000465570:p.Gly21796Ser	False	False		Somatic	0				TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21796S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.G23437S	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)		326	70533	-			21796			Fibronectin type-III 70.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.70309G>A		.	.	.	.	.	.	.	.	.	.	C	16.49	3.138080	0.56936	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.67	5.67	0.87782	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70298	0.3208	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.72124	-0.4385	9	0.87932	D	0	.	19.7429	0.96238	0.0:1.0:0.0:0.0	.	14372;14497;14564;21796	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20869;14372;14564;14497;14370	ENSP00000343764:G20869S;ENSP00000434586:G14372S;ENSP00000340554:G14564S;ENSP00000352154:G14497S	ENSP00000340554:G14564S	G	-	1	0	TTN	179148796	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.685000	0.91497	0.655000	0.94253	GGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179440550
TENM2	57451	broad.mit.edu	37	5	167626955	167626955	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:167626955G>A	ENST00000518659.1	+	17	3288	c.3249G>A	c.(3247-3249)ctG>ctA	p.L1083L	TENM2_ENST00000403607.2_Silent_p.L907L|TENM2_ENST00000520394.1_Silent_p.L851L|TENM2_ENST00000545108.1_Silent_p.L1083L|TENM2_ENST00000519204.1_Silent_p.L962L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1083					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGTCACTGCTGAAGATCACCA	0.507																																						ENST00000519204.1		NA																	0					NA						c.(2884-2886)ctG>ctA		teneurin transmembrane protein 2							127.0	127.0	127.0					5																	167626955		1970	4177	6147	SO:0001819	synonymous_variant	57451							g.chr5:167626955G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3249G>A	5.37:g.167626955G>A		False	False		Somatic	0				TENM2_ENST00000545108.1_Silent_p.L1083L|TENM2_ENST00000518659.1_Silent_p.L1083L|TENM2_ENST00000403607.2_Silent_p.L907L|TENM2_ENST00000520394.1_Silent_p.L851L	p.L962L			WXS	Illumina HiSeq	Phase_I					16	3004	+			NA					Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.2886G>A																																																																																					0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	0	NM_001122679		5:167626955
COL4A1	1282	broad.mit.edu	37	13	110857736	110857736	+	Silent	SNP	G	G	A	rs138809869		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:110857736G>A	ENST00000375820.4	-	17	1042	c.921C>T	c.(919-921)ccC>ccT	p.P307P	COL4A1_ENST00000543140.1_Silent_p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	307	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGGTACCCGGGTTCACCAG	0.512																																						ENST00000375820.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(919-921)ccC>ccT		collagen, type IV, alpha 1		G		0,4406		0,0,2203	91.0	103.0	99.0		921	-10.1	0.0	13	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL4A1	NM_001845.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		307/1670	110857736	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857736G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.921C>T	13.37:g.110857736G>A		True	False		Somatic	0				COL4A1_ENST00000543140.1_Silent_p.P307P	p.P307P	NM_001845.4	NP_001836.2	WXS	Illumina HiSeq	Phase_I	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		17	1042	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	307			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.921C>T	CCDS9511.1																																																																																				0.512	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3	0			13:110857736
VRK1	7443	broad.mit.edu	37	14	97319216	97319216	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:97319216A>G	ENST00000216639.3	+	6	572	c.423A>G	c.(421-423)atA>atG	p.I141M		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTCAGAAAATATATGAAGCAA	0.328																																						ENST00000216639.3		NA																	0				NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12						c.(421-423)atA>atG		vaccinia related kinase 1							90.0	88.0	89.0					14																	97319216		2203	4300	6503	SO:0001583	missense	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97319216A>G	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.423A>G	14.37:g.97319216A>G	ENSP00000216639:p.Ile141Met	True	False		Somatic	0					p.I141M	NM_003384.2	NP_003375.1	WXS	Illumina HiSeq	Phase_I	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	6	572	+		Melanoma(154;0.155)	141			Protein kinase.		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	c.423A>G	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165260	0.38217	.	.	ENSG00000100749	ENST00000216639	T	0.21191	2.02	5.76	3.01	0.34805	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.418609	0.30446	N	0.009607	T	0.18509	0.0444	M	0.65498	2.005	0.41806	D	0.989943	P	0.44734	0.842	B	0.39876	0.312	T	0.07462	-1.0771	10	0.72032	D	0.01	-21.5458	1.8397	0.03147	0.4436:0.3034:0.106:0.1471	.	141	Q99986	VRK1_HUMAN	M	141	ENSP00000216639:I141M	ENSP00000216639:I141M	I	+	3	3	VRK1	96388969	0.957000	0.32711	1.000000	0.80357	0.997000	0.91878	0.138000	0.16016	0.978000	0.38470	0.482000	0.46254	ATA		0.328	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	0	NM_003384		14:97319216
DNAAF3	352909	broad.mit.edu	37	19	55676757	55676757	+	Silent	SNP	C	C	T	rs371199276		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:55676757C>T	ENST00000524407.2	-	4	336	c.303G>A	c.(301-303)ccG>ccA	p.P101P	CTD-2587H24.5_ENST00000591665.1_RNA|snoU13_ENST00000459370.1_RNA|DNAAF3_ENST00000391720.4_Silent_p.P148P|DNAAF3_ENST00000455045.1_Silent_p.P47P|DNAAF3_ENST00000527223.2_Silent_p.P169P			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	101					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CCATCTTCTCCGGTTCCTCCA	0.532																																						ENST00000527223.2		NA																	0					NA						c.(505-507)ccG>ccA		dynein, axonemal, assembly factor 3		C		0,3930		0,0,1965	66.0	71.0	70.0		444	-8.2	0.1	19		70	1,8307		0,1,4153	no	coding-synonymous	C19orf51	NM_178837.3		0,1,6118	TT,TC,CC		0.012,0.0,0.0082		148/589	55676757	1,12237	1965	4154	6119	SO:0001819	synonymous_variant	352909							g.chr19:55676757C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.303G>A	19.37:g.55676757C>T		False	False		Somatic	0				CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Silent_p.P101P|DNAAF3_ENST00000455045.1_Silent_p.P47P|DNAAF3_ENST00000391720.4_Silent_p.P148P	p.P169P	NM_001256714.1	NP_001243643	WXS	Illumina HiSeq	Phase_I	Q8N9W5	CS051_HUMAN			4	508	-			101					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	ENST00000524407.2	37	c.507G>A	CCDS59422.1																																																																																				0.532	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	0	NM_178837		19:55676757
FAM188B	84182	broad.mit.edu	37	7	30825421	30825421	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:30825421C>A	ENST00000265299.6	+	4	553	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	159										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAAGGCCCCCGCACAAAAGT	0.448																																						ENST00000265299.6		NA																	0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(475-477)cCg>cAg		family with sequence similarity 188, member B							99.0	104.0	102.0					7																	30825421		1846	4097	5943	SO:0001583	missense	84182							g.chr7:30825421C>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.476C>A	7.37:g.30825421C>A	ENSP00000265299:p.Pro159Gln	True	False		Somatic	0				INMT-FAM188B_ENST00000458257.1_3'UTR	p.P159Q	NM_032222.2	NP_115598.2	WXS	Illumina HiSeq	Phase_I	Q4G0A6	F188B_HUMAN			4	553	+			159					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.476C>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251521	0.05867	.	.	ENSG00000106125	ENST00000265299	T	0.23552	1.9	5.19	2.32	0.28847	.	0.790451	0.11983	N	0.510580	T	0.16642	0.0400	L	0.41236	1.265	0.09310	N	1	P	0.34955	0.477	B	0.24701	0.055	T	0.19943	-1.0290	10	0.87932	D	0	-7.9428	4.8572	0.13564	0.1701:0.6496:0.0:0.1803	.	159	Q4G0A6	F188B_HUMAN	Q	159	ENSP00000265299:P159Q	ENSP00000265299:P159Q	P	+	2	0	FAM188B	30791946	0.001000	0.12720	0.104000	0.21259	0.172000	0.22775	1.070000	0.30653	0.762000	0.33152	0.650000	0.86243	CCG		0.448	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	0	NM_032222		7:30825421
