#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
OVGP1	5016	broad.mit.edu	37	1	111957502	111957525	+	In_Frame_Del	DEL	TCACAGACTGATGACTCACAGGGG	TCACAGACTGATGACTCACAGGGG	-	rs3767610|rs201350653|rs111600994|rs3767609|rs3767608|rs549398942|rs113843251|rs568931117|rs61742558	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	TCACAGACTGATGACTCACAGGGG	TCACAGACTGATGACTCACAGGGG	-	-	TCACAGACTGATGACTCACAGGGG	TCACAGACTGATGACTCACAGGGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:111957502_111957525delTCACAGACTGATGACTCACAGGGG	ENST00000369732.3	-	11	1653_1676	c.1598_1621delCCCCTGTGAGTCATCAGTCTGTGA	c.(1597-1623)acccctgtgagtcatcagtctgtgagc>agc	p.TPVSHQSV533del		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	533					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T597_V604delTPVSHQSV(2)|p.T533_V540delTPVSHQSV(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCTCCAGGGCTCACAGACTGATGACTCACAGGGGTCACAGACTG	0.545																																						ENST00000369732.3		NA																	4	Deletion - In frame(4)	p.T597_V604delTPVSHQSV(2)|p.T533_V540delTPVSHQSV(2)	haematopoietic_and_lymphoid_tissue(2)|stomach(2)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1597-1623)acccctgtgagtcatcagtctgtgagc>agc		oviductal glycoprotein 1, 120kDa																																				SO:0001651	inframe_deletion	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957502_111957525delTCACAGACTGATGACTCACAGGGG	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1598_1621delCCCCTGTGAGTCATCAGTCTGTGA	1.37:g.111957502_111957525delTCACAGACTGATGACTCACAGGGG	ENSP00000358747:p.Thr533_Val540del	False	False		Somatic	1					p.TPVSHQSV533del	NM_002557.3	NP_002548.3	WXS	Illumina HiSeq	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1653_1676	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	533					A0AV19|B9EGE1|Q15841	In_Frame_Del	DEL	ENST00000369732.3	37	c.1598_1621delCCCCTGTGAGTCATCAGTCTGTGA	CCDS834.1																																																																																				0.545	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	0	NM_002557		1:111957502
PCDH15	65217	broad.mit.edu	37	10	55581883	55581885	+	In_Frame_Del	DEL	GTT	GTT	-	rs113363047|rs372345161|rs191736346	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:55581883_55581885delGTT	ENST00000320301.6	-	33	5995_5997	c.5601_5603delAAC	c.(5599-5604)acaacg>acg	p.1867_1868TT>T	PCDH15_ENST00000395433.1_In_Frame_Del_p.1844_1845TT>T|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.1827_1828TT>T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_In_Frame_Del_p.721_722TT>T|PCDH15_ENST00000395430.1_In_Frame_Del_p.1864_1865TT>T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.1869_1870TT>T|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.1798_1799TT>T|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1867			Missing (in USH1F). {ECO:0000269|PubMed:15660226}.		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)				ACACACTGTCGTTGTTGATAGCT	0.414										HNSCC(58;0.16)				157	0.0313498	0.1097	0.0144	5008	,	,		20659	0.0		0.001	False		,,,				2504	0.001					ENST00000361849.3		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	GRCh37	CD050016	PCDH15	D	rs142667566	c.(5605-5610)acaacg>acg		protocadherin-related 15			,,,,,,,,,,,	403,3859		16,371,1744					,,,,,,,,,,,	-5.8	0.0		dbSNP_132	232	37,8217		14,9,4104	no	coding,coding,intron,intron,intron,intron,coding,coding,coding,coding,coding,coding	PCDH15	NM_033056.3,NM_001142773.1,NM_001142772.1,NM_001142771.1,NM_001142770.1,NM_001142769.1,NM_001142768.1,NM_001142767.1,NM_001142766.1,NM_001142765.1,NM_001142764.1,NM_001142763.1	,,,,,,,,,,,	30,380,5848	A1A1,A1R,RR		0.4483,9.4557,3.5155	,,,,,,,,,,,	,,,,,,,,,,,		440,12076				SO:0001651	inframe_deletion	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.chr10:55581883_55581885delGTT	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.5601_5603delAAC	10.37:g.55581886_55581888delGTT	ENSP00000322604:p.Thr1869del	False	False	HNSCC(58;0.16)	Somatic	2				PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_In_Frame_Del_p.721_722TT>T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.1798_1799TT>T|PCDH15_ENST00000395433.1_In_Frame_Del_p.1844_1845TT>T|PCDH15_ENST00000395432.2_In_Frame_Del_p.1827_1828TT>T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.1867_1868TT>T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.1864_1865TT>T	p.1869_1870TT>T	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	WXS	Illumina HiSeq	Phase_I	Q96QU1	PCD15_HUMAN			34	6001_6003	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1867					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.5607_5609delAAC	CCDS7248.1																																																																																				0.414	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	0	NM_033056		10:55581883
PDE3B	5140	broad.mit.edu	37	11	14852384	14852385	+	Frame_Shift_Ins	INS	-	-	TTTACATG			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:14852384_14852385insTTTACATG	ENST00000282096.4	+	8	2301_2302	c.1948_1949insTTTACATG	c.(1948-1950)caafs	p.Q650fs	PDE3B_ENST00000455098.2_Frame_Shift_Ins_p.Q599fs	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	650					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GAGTGAACAGCAAACAAATGTA	0.327																																						ENST00000282096.4		NA																	0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1948-1950)caafs		phosphodiesterase 3B, cGMP-inhibited																																				SO:0001589	frameshift_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14852384_14852385insTTTACATG	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	Exception_encountered	11.37:g.14852384_14852385insTTTACATG	ENSP00000282096:p.Gln650fs	True	False		Somatic	0				PDE3B_ENST00000455098.2_Frame_Shift_Ins_p.Q599fs	p.Q650fs	NM_000922.3	NP_000913.2	WXS	Illumina HiSeq	Phase_I	Q13370	PDE3B_HUMAN			8	2301_2302	+			650					B7ZM37|O00639|Q14408|Q6SEI4	Frame_Shift_Ins	INS	ENST00000282096.4	37	c.1948_1949insTTTACATG	CCDS7817.1																																																																																				0.327	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	0	NM_000922		11:14852384
SLC9A7P1	121456	broad.mit.edu	37	12	98849803	98849804	+	RNA	DEL	AT	AT	-	rs61677852	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr12:98849803_98849804delAT	ENST00000554295.1	-	0	1119_1120					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		GCTCCAGGACATGAGGAAGAAG	0.485														386	0.0770767	0.1868	0.0807	5008	,	,		22145	0.0218		0.0567	False		,,,				2504	0.0041					ENST00000554295.1		NA																	0					NA																																														0							g.chr12:98849803_98849804delAT			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849803_98849804delAT		False	False		Somatic	1						NR_033801.1		WXS	Illumina HiSeq	Phase_I					0	1119_1120	-			NA						RNA	DEL	ENST00000554295.1	37																																																																																						0.485	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1	0			12:98849803
DAAM1	23002	broad.mit.edu	37	14	59834291	59834292	+	Frame_Shift_Ins	INS	-	-	TCAATGTTTCATGAGAATTCCACAATCAAATATAAAT			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:59834291_59834292insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	ENST00000395125.1	+	24	3024_3025	c.3001_3002insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	c.(3001-3003)gaafs	p.E1001fs	DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.E1001fs|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.E991fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1001	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGAGGAAGAAGAACGTCGAGCT	0.411																																						ENST00000395125.1		NA																	0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(3001-3003)gaafs		dishevelled associated activator of morphogenesis 1																																				SO:0001589	frameshift_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59834291_59834292insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	Exception_encountered	14.37:g.59834291_59834292insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	ENSP00000378557:p.Glu1001fs	True	False		Somatic	0				DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.E1001fs|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.E991fs|DAAM1_ENST00000553966.1_3'UTR	p.E1001fs	NM_014992.2	NP_055807.1	WXS	Illumina HiSeq	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	24	3024_3025	+			1001			FH2.		Q86U34|Q8N1Z8|Q8TB39	Frame_Shift_Ins	INS	ENST00000395125.1	37	c.3001_3002insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	CCDS9737.1																																																																																				0.411	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	0	NM_014992		14:59834291
SERPINA9	327657	broad.mit.edu	37	14	94935764	94935766	+	In_Frame_Del	DEL	GAC	GAC	-	rs139361603	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:94935764_94935766delGAC	ENST00000380365.3	-	2	490_492	c.412_414delGTC	c.(412-414)gtcdel	p.V138del	SERPINA9_ENST00000424550.2_In_Frame_Del_p.V7del|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000337425.5_In_Frame_Del_p.V156del|SERPINA9_ENST00000448305.2_In_Frame_Del_p.V58del|SERPINA9_ENST00000546329.1_In_Frame_Del_p.V120del			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	138					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCTCCTTCTTGACGAAGAGGGCA	0.522														110	0.0219649	0.0794	0.0072	5008	,	,		19934	0.0		0.0	False		,,,				2504	0.0					ENST00000337425.5		NA																	0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(466-468)gtcdel		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9			,	179,3649		9,161,1744					,	-1.8	0.0		dbSNP_119	112	2,7992		0,2,3995	no	coding,intron	SERPINA9	NM_175739.3,NM_001042518.1	,	9,163,5739	A1A1,A1R,RR		0.025,4.6761,1.531	,	,		181,11641				SO:0001651	inframe_deletion	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935764_94935766delGAC	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.412_414delGTC	14.37:g.94935764_94935766delGAC	ENSP00000369723:p.Val138del	False	False		Somatic	1				SERPINA9_ENST00000448305.2_In_Frame_Del_p.V58del|SERPINA9_ENST00000380365.3_In_Frame_Del_p.V138del|SERPINA9_ENST00000546329.1_In_Frame_Del_p.V120del|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000424550.2_In_Frame_Del_p.V7del	p.V156del	NM_175739.3	NP_783866.2	WXS	Illumina HiSeq	Phase_I	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	540_542	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	138					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	In_Frame_Del	DEL	ENST00000380365.3	37	c.466_468delGTC																																																																																					0.522	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	0	NM_175739		14:94935764
AKAP13	11214	broad.mit.edu	37	15	86118478	86118479	+	Frame_Shift_Ins	INS	-	-	CTTCG			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:86118478_86118479insCTTCG	ENST00000394518.2	+	6	874_875	c.779_780insCTTCG	c.(778-783)gattcafs	p.S261fs	AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.S261fs	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	261					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCTGAGTCTGATTCACATCATG	0.416																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2		NA																	0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(778-783)gattcafs		A kinase (PRKA) anchor protein 13																																				SO:0001589	frameshift_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86118478_86118479insCTTCG	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		Exception_encountered	15.37:g.86118478_86118479insCTTCG	ENSP00000378026:p.Ser261fs	False	False		Somatic	0				AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.S261fs	p.S261fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina HiSeq	Phase_I	Q12802	AKP13_HUMAN			6	874_875	+			261					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Ins	INS	ENST00000394518.2	37	c.779_780insCTTCG	CCDS32319.1																																																																																				0.416	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	NM_007200		15:86118478
VWA3A	146177	broad.mit.edu	37	16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-	rs200724524		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546																																						ENST00000389398.5		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(3028-3036)gacacgctgfs		von Willebrand factor A domain containing 3A																																				SO:0001589	frameshift_variant	146177					extracellular region		g.chr16:22161152_22161158delACACGCT	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3029_3035delACACGCT	16.37:g.22161152_22161158delACACGCT	ENSP00000374049:p.Asp1010fs	False	False		Somatic	1				VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs	p.DTL1010fs	NM_173615.3	NP_775886.3	WXS	Illumina HiSeq	Phase_I	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	29	3125_3131	+			1010			VWFA 2.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Frame_Shift_Del	DEL	ENST00000389398.5	37	c.3029_3035delACACGCT	CCDS45441.1																																																																																				0.546	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1	0			16:22161152
ZBTB4	57659	broad.mit.edu	37	17	7366346	7366348	+	In_Frame_Del	DEL	TCA	TCA	-	rs78260319|rs375158389	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	TCA	TCA	-	-	TCA	TCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7366346_7366348delTCA	ENST00000311403.4	-	4	2292_2294	c.1953_1955delTGA	c.(1951-1956)gatgag>gag	p.D651del	ZBTB4_ENST00000380599.4_In_Frame_Del_p.D651del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	651	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGATtcctcctcatcctcctcct	0.611																																						ENST00000311403.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1951-1956)gatgag>gag		zinc finger and BTB domain containing 4			,	304,3960		11,282,1839					,	-1.8	0.2			53	244,8010		17,210,3900	no	coding,coding	ZBTB4	NM_020899.3,NM_001128833.1	,	28,492,5739	A1A1,A1R,RR		2.9561,7.1295,4.3777	,	,		548,11970				SO:0001651	inframe_deletion	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366346_7366348delTCA	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1953_1955delTGA	17.37:g.7366346_7366348delTCA	ENSP00000307858:p.Asp651del	False	False		Somatic	1				ZBTB4_ENST00000380599.4_In_Frame_Del_p.D651del	p.D651del	NM_020899.3	NP_065950.2	WXS	Illumina HiSeq	Phase_I	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2292_2294	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	651			Glu-rich.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	In_Frame_Del	DEL	ENST00000311403.4	37	c.1953_1955delTGA	CCDS11107.1																																																																																				0.611	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	0	NM_020899		17:7366346
TP53	7157	broad.mit.edu	37	17	7578411	7578412	+	In_Frame_Ins	INS	-	-	ACG			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7578411_7578412insACG	ENST00000269305.4	-	5	707_708	c.518_519insCGT	c.(517-519)gtg>gtCGTg	p.173_173V>VV	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000420246.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000445888.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000359597.4_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000413465.2_In_Frame_Ins_p.173_173V>VV	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173A(12)|p.V173V(8)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.V41fs*7(1)|p.E171fs*1(1)|p.V173W(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAGCGCCTCACAACCTCCGT	0.658		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		55	Substitution - Missense(20)|Deletion - Frameshift(13)|Whole gene deletion(8)|Substitution - coding silent(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173A(12)|p.V173V(8)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.V41fs*7(1)|p.E171fs*1(1)|p.V173W(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.R174fs*7(1)	large_intestine(10)|central_nervous_system(8)|lung(7)|haematopoietic_and_lymphoid_tissue(5)|bone(5)|stomach(4)|biliary_tract(3)|oesophagus(3)|upper_aerodigestive_tract(2)|cervix(2)|liver(2)|endometrium(1)|ovary(1)|prostate(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(517-519)gtg>gtCGTg	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001652	inframe_insertion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578411_7578412insACG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.518_519insCGT	17.37:g.7578411_7578412insACG	ENSP00000269305:p.Val173dup	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000269305.4_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000359597.4_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000455263.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000445888.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Ins_p.173_173V>VV	p.173_173V>VV	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	650_651	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Ins	INS	ENST00000269305.4	37	c.518_519insCGT	CCDS11118.1																																																																																				0.658	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578411
AXDND1	126859	broad.mit.edu	37	1	179414305	179414306	+	Frame_Shift_Ins	INS	-	-	TTTTTTCTCATTCAGGAGCT			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:179414305_179414306insTTTTTTCTCATTCAGGAGCT	ENST00000367618.3	+	16	2151_2152	c.1764_1765insTTTTTTCTCATTCAGGAGCT	c.(1765-1767)aaafs	p.K589fs	AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.K589fs|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	589										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAAAACTCTACAAAGAATATGA	0.312																																						ENST00000367618.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1765-1767)aaafs		axonemal dynein light chain domain containing 1																																				SO:0001589	frameshift_variant	126859							g.chr1:179414305_179414306insTTTTTTCTCATTCAGGAGCT	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	Exception_encountered	1.37:g.179414305_179414306insTTTTTTCTCATTCAGGAGCT	ENSP00000356590:p.Lys589fs	True	False		Somatic	0				AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.K589fs|AXDND1_ENST00000461179.2_3'UTR	p.K589fs	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			16	2151_2152	+			589					Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Ins	INS	ENST00000367618.3	37	c.1764_1765insTTTTTTCTCATTCAGGAGCT	CCDS30948.1																																																																																				0.312	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179414305
BPTF	2186	broad.mit.edu	37	17	65908306	65908306	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:65908306delG	ENST00000321892.4	+	13	4745	c.4684delG	c.(4684-4686)gttfs	p.V1562fs	BPTF_ENST00000424123.3_Frame_Shift_Del_p.V1423fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.V1562fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.V1436fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1562					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTGGTAATGTTGAACCAAA	0.274																																						ENST00000306378.6		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4306-4308)gttfs		bromodomain PHD finger transcription factor							38.0	45.0	43.0					17																	65908306		2165	4275	6440	SO:0001589	frameshift_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65908306delG	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4684delG	17.37:g.65908306delG	ENSP00000315454:p.Val1562fs	False	False		Somatic	1				BPTF_ENST00000321892.4_Frame_Shift_Del_p.V1562fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.V1562fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.V1423fs	p.V1436fs	NM_182641.3	NP_872579.2	WXS	Illumina HiSeq	Phase_I	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	4366	+	all_cancers(12;6e-11)		1562					Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37	c.4306delG																																																																																					0.274	BPTF-201	KNOWN	basic	protein_coding	protein_coding		0	NM_182641, NM_004459		17:65908306
KDM5B	10765	broad.mit.edu	37	1	202731900	202731901	+	Frame_Shift_Ins	INS	-	-	GTTTAAACTTAAATTTGTACCT			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:202731900_202731901insGTTTAAACTTAAATTTGTACCT	ENST00000367265.3	-	7	2008_2009	c.844_845insAGGTACAAATTTAAGTTTAAAC	c.(844-846)attfs	p.I282fs	KDM5B_ENST00000367264.2_Frame_Shift_Ins_p.I318fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	282					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTCCTCTCAATAGGTTCTTGC	0.396																																						ENST00000367265.3		NA																	0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(844-846)attfs		lysine (K)-specific demethylase 5B																																				SO:0001589	frameshift_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202731900_202731901insGTTTAAACTTAAATTTGTACCT	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.844_845insAGGTACAAATTTAAGTTTAAAC	1.37:g.202731900_202731901insGTTTAAACTTAAATTTGTACCT	ENSP00000356234:p.Ile282fs	False	False		Somatic	0				KDM5B_ENST00000367264.2_Frame_Shift_Ins_p.I318fs	p.I282fs	NM_006618.3	NP_006609.3	WXS	Illumina HiSeq	Phase_I	Q9UGL1	KDM5B_HUMAN			7	2008_2009	-			282					O95811|Q15752|Q9Y3Q5	Frame_Shift_Ins	INS	ENST00000367265.3	37	c.844_845insAGGTACAAATTTAAGTTTAAAC	CCDS30974.1																																																																																				0.396	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	0	NM_006618		1:202731900
ZNF135	7694	broad.mit.edu	37	19	58578350	58578351	+	Frame_Shift_Ins	INS	-	-	TCTA			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:58578350_58578351insTCTA	ENST00000313434.5	+	5	599_600	c.498_499insTCTA	c.(499-501)gaafs	p.E167fs	ZNF135_ENST00000506786.1_Frame_Shift_Ins_p.E125fs|ZNF135_ENST00000511556.1_Frame_Shift_Ins_p.E179fs|ZNF135_ENST00000401053.4_Frame_Shift_Ins_p.E191fs|ZNF135_ENST00000439855.2_Frame_Shift_Ins_p.E167fs|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Frame_Shift_Ins_p.E179fs	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	167					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGGGTTTGGGGAAAACATAAG	0.54																																						ENST00000506786.1		NA																	0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(373-375)gaafs		zinc finger protein 135																																				SO:0001589	frameshift_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578350_58578351insTCTA	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		Exception_encountered	19.37:g.58578350_58578351insTCTA	ENSP00000321406:p.Glu167fs	True	False		Somatic	0				ZNF135_ENST00000401053.4_Frame_Shift_Ins_p.E191fs|ZNF135_ENST00000439855.2_Frame_Shift_Ins_p.E167fs|ZNF135_ENST00000511556.1_Frame_Shift_Ins_p.E179fs|ZNF135_ENST00000359978.6_Frame_Shift_Ins_p.E179fs|ZNF135_ENST00000313434.5_Frame_Shift_Ins_p.E167fs	p.E125fs			WXS	Illumina HiSeq	Phase_I	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	926_927	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	179					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Frame_Shift_Ins	INS	ENST00000313434.5	37	c.372_373insTCTA																																																																																					0.540	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	0	NM_003436		19:58578350
ATP9A	10079	broad.mit.edu	37	20	50238628	50238635	+	Frame_Shift_Del	DEL	GATGTCTT	GATGTCTT	-	rs370051932		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	GATGTCTT	GATGTCTT	-	-	GATGTCTT	GATGTCTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr20:50238628_50238635delGATGTCTT	ENST00000338821.5	-	19	2357_2364	c.2093_2100delAAGACATC	c.(2092-2100)caagacatcfs	p.QDI698fs	ATP9A_ENST00000311637.5_Frame_Shift_Del_p.QDI562fs|ATP9A_ENST00000402822.1_Frame_Shift_Del_p.QDI577fs	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	698					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAAAACGTGGATGTCTTGGTTTCTGGT	0.51																																						ENST00000338821.5		NA																	0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2092-2100)caagacatcfs		ATPase, class II, type 9A																																				SO:0001589	frameshift_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50238628_50238635delGATGTCTT	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2093_2100delAAGACATC	20.37:g.50238628_50238635delGATGTCTT	ENSP00000342481:p.Gln698fs	False	False		Somatic	1				ATP9A_ENST00000311637.5_Frame_Shift_Del_p.QDI562fs|ATP9A_ENST00000402822.1_Frame_Shift_Del_p.QDI577fs	p.QDI698fs	NM_006045.1	NP_006036.1	WXS	Illumina HiSeq	Phase_I	O75110	ATP9A_HUMAN			19	2357_2364	-			698					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Frame_Shift_Del	DEL	ENST00000338821.5	37	c.2093_2100delAAGACATC	CCDS33489.1																																																																																				0.510	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	0	NM_006045		20:50238628
FAM45B	55855	broad.mit.edu	37	X	129630262	129630263	+	lincRNA	INS	-	-	TCTCTGG			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:129630262_129630263insTCTCTGG	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							TCACTCTGATTACCCACTCACT	0.356																																						ENST00000458525.1		NA																	0					NA																																														0							g.chrX:129630262_129630263insTCTCTGG																													X.37:g.129630262_129630263insTCTCTGG		True	False		Somatic	0				FAM45B_ENST00000592932.1_RNA				WXS	Illumina HiSeq	Phase_I					0	1015	-			NA						RNA	INS	ENST00000458525.1	37																																																																																						0.356	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1	0			X:129630262
ARID4B	51742	broad.mit.edu	37	1	235383222	235383223	+	Frame_Shift_Ins	INS	-	-	ATGAATC			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:235383222_235383223insATGAATC	ENST00000264183.3	-	16	1965_1966	c.1468_1469insGATTCAT	c.(1468-1470)aacfs	p.N490fs	ARID4B_ENST00000349213.3_Frame_Shift_Ins_p.N490fs|ARID4B_ENST00000366603.2_Frame_Shift_Ins_p.N490fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	490	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTTTAATGTTAACTTCTTTT	0.327																																						ENST00000264183.3		NA																	0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1468-1470)aacfs		AT rich interactive domain 4B (RBP1-like)																																				SO:0001589	frameshift_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235383222_235383223insATGAATC	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1468_1469insGATTCAT	1.37:g.235383222_235383223insATGAATC	ENSP00000264183:p.Asn490fs	False	False		Somatic	0				ARID4B_ENST00000349213.3_Frame_Shift_Ins_p.N490fs|ARID4B_ENST00000366603.2_Frame_Shift_Ins_p.N490fs	p.N490fs	NM_016374.5	NP_057458.4	WXS	Illumina HiSeq	Phase_I	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		16	1965_1966	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	490			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Ins	INS	ENST00000264183.3	37	c.1468_1469insGATTCAT	CCDS31061.1																																																																																				0.327	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	0	NM_016374		1:235383222
FOXN2	3344	broad.mit.edu	37	2	48602402	48602403	+	Frame_Shift_Ins	INS	-	-	AATC			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:48602402_48602403insAATC	ENST00000340553.3	+	7	1377_1378	c.1116_1117insAATC	c.(1117-1119)gcafs	p.A373fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	373					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CACAGCCTTGTGCAAAAATCTC	0.446																																						ENST00000340553.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1117-1119)gcafs		forkhead box N2																																				SO:0001589	frameshift_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602402_48602403insAATC		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	Exception_encountered	2.37:g.48602402_48602403insAATC	ENSP00000343633:p.Ala373fs	False	False		Somatic	0					p.A373fs	NM_002158.3	NP_002149.2	WXS	Illumina HiSeq	Phase_I	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1377_1378	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	373					Q15769|Q6P4Q2	Frame_Shift_Ins	INS	ENST00000340553.3	37	c.1116_1117insAATC	CCDS1838.1																																																																																				0.446	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	0	NM_002158		2:48602402
FOXN2	3344	broad.mit.edu	37	2	48602403	48602404	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:48602403_48602404insTA	ENST00000340553.3	+	7	1378_1379	c.1117_1118insTA	c.(1117-1119)gcafs	p.A373fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	373					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ACAGCCTTGTGCAAAAATCTCT	0.45																																						ENST00000340553.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1117-1119)gcafs		forkhead box N2																																				SO:0001589	frameshift_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602403_48602404insTA		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	Exception_encountered	2.37:g.48602403_48602404insTA	ENSP00000343633:p.Ala373fs	True	False		Somatic	0					p.A373fs	NM_002158.3	NP_002149.2	WXS	Illumina HiSeq	Phase_I	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1378_1379	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	373					Q15769|Q6P4Q2	Frame_Shift_Ins	INS	ENST00000340553.3	37	c.1117_1118insTA	CCDS1838.1																																																																																				0.450	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	0	NM_002158		2:48602403
SMEK2	57223	broad.mit.edu	37	2	55812291	55812292	+	Frame_Shift_Ins	INS	-	-	ACTATTGAGAGAAAAAACATAAC			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:55812291_55812292insACTATTGAGAGAAAAAACATAAC	ENST00000345102.5	-	7	1429_1430	c.1128_1129insGTTATGTTTTTTCTCTCAATAGT	c.(1126-1131)gatttgfs	p.L377fs	SMEK2_ENST00000272313.5_Frame_Shift_Ins_p.L377fs|SMEK2_ENST00000407823.3_Frame_Shift_Ins_p.L377fs	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	377					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGACTTGCAAATCATCCATGC	0.351																																						ENST00000272313.5		NA																	0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1126-1131)gatttgfs		SMEK homolog 2, suppressor of mek1 (Dictyostelium)																																				SO:0001589	frameshift_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55812291_55812292insACTATTGAGAGAAAAAACATAAC	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1128_1129insGTTATGTTTTTTCTCTCAATAGT	2.37:g.55812291_55812292insACTATTGAGAGAAAAAACATAAC	ENSP00000339769:p.Leu377fs	True	False		Somatic	0				SMEK2_ENST00000345102.5_Frame_Shift_Ins_p.L377fs|SMEK2_ENST00000407823.3_Frame_Shift_Ins_p.L377fs	p.L377fs	NM_020463.2	NP_065196.1	WXS	Illumina HiSeq	Phase_I	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		7	1455_1456	-			377					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Frame_Shift_Ins	INS	ENST00000345102.5	37	c.1128_1129insGTTATGTTTTTTCTCTCAATAGT	CCDS46289.1																																																																																				0.351	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	0	NM_020463		2:55812291
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	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
PPIG	9360	broad.mit.edu	37	2	170493041	170493042	+	Frame_Shift_Ins	INS	-	-	ATTGGGG			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:170493041_170493042insATTGGGG	ENST00000260970.3	+	14	1493_1494	c.1273_1274insATTGGGG	c.(1273-1275)aaafs	p.K425fs	PPIG_ENST00000448752.2_Frame_Shift_Ins_p.K425fs|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Frame_Shift_Ins_p.K410fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	425					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAGGAGAAGAAAGTTAAAGAC	0.322																																						ENST00000260970.3		NA																	0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1273-1275)aaafs		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493041_170493042insATTGGGG	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	Exception_encountered	2.37:g.170493041_170493042insATTGGGG	ENSP00000260970:p.Lys425fs	True	False		Somatic	0				PPIG_ENST00000409714.3_Frame_Shift_Ins_p.K410fs|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Frame_Shift_Ins_p.K425fs	p.K425fs	NM_004792.2	NP_004783.2	WXS	Illumina HiSeq	Phase_I	Q13427	PPIG_HUMAN			14	1493_1494	+			425					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Frame_Shift_Ins	INS	ENST00000260970.3	37	c.1273_1274insATTGGGG	CCDS2235.1																																																																																				0.322	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2	0			2:170493041
RNF123	63891	broad.mit.edu	37	3	49725275	49725279	+	5'Flank	DEL	GTGCT	GTGCT	-	rs370878670		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	GTGCT	GTGCT	-	-	GTGCT	GTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:49725275_49725279delGTGCT	ENST00000327697.6	+	0	0				MST1_ENST00000449682.2_Frame_Shift_Del_p.QH49fs|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_Intron|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000383728.3_Intron	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATGTAGCAGGTGCTGTAGCTCTGT	0.61																																						ENST00000449682.2		NA																	0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(145-150)cagcacfs		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725275_49725279delGTGCT	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725275_49725279delGTGCT	Exception_encountered	False	False		Somatic	1				MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000494828.2_Intron	p.QH49fs	NM_020998.3	NP_066278.3	WXS	Illumina HiSeq	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	507_511	-			35			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Del	DEL	ENST00000327697.6	37	c.146_150delAGCAC	CCDS33758.1																																																																																				0.610	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	0	NM_022064		3:49725275
NCK1	4690	broad.mit.edu	37	3	136665132	136665133	+	Frame_Shift_Ins	INS	-	-	GGATTATTCTGCATAA			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:136665132_136665133insGGATTATTCTGCATAA	ENST00000481752.1	+	3	1098_1099	c.934_935insGGATTATTCTGCATAA	c.(934-936)tctfs	p.S312fs	NCK1_ENST00000469404.1_Frame_Shift_Ins_p.S248fs|IL20RB_ENST00000484501.1_3'UTR|NCK1_ENST00000288986.2_Frame_Shift_Ins_p.S312fs			P16333	NCK1_HUMAN	NCK adaptor protein 1	312	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGATAGTGAATCTTCGGTAAGT	0.391																																						ENST00000469404.1		NA																	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(742-744)tctfs		NCK adaptor protein 1																																				SO:0001589	frameshift_variant	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136665132_136665133insGGATTATTCTGCATAA	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	Exception_encountered	3.37:g.136665132_136665133insGGATTATTCTGCATAA	ENSP00000417273:p.Ser312fs	False	False		Somatic	0				NCK1_ENST00000288986.2_Frame_Shift_Ins_p.S312fs|NCK1_ENST00000481752.1_Frame_Shift_Ins_p.S312fs|IL20RB_ENST00000484501.1_3'UTR	p.S248fs	NM_001190796.1	NP_001177725.1	WXS	Illumina HiSeq	Phase_I	P16333	NCK1_HUMAN			2	833_834	+			312			SH3 3.		B7Z751|D3DNE3	Frame_Shift_Ins	INS	ENST00000481752.1	37	c.742_743insGGATTATTCTGCATAA	CCDS3092.1																																																																																				0.391	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	0	NM_006153		3:136665132
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
POLR2B	5431	broad.mit.edu	37	4	57891701	57891702	+	Frame_Shift_Ins	INS	-	-	AAAAATTAAACAA			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr4:57891701_57891702insAAAAATTAAACAA	ENST00000381227.1	+	24	3650_3651	c.3237_3238insAAAAATTAAACAA	c.(3238-3240)cgtfs	p.R1080fs	POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1080fs|POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R1005fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1073fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1080					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)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGGGTAGATCTCGGTAAGAACT	0.386																																						ENST00000381227.1		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(3238-3240)cgtfs		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa																																				SO:0001589	frameshift_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|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|protein binding|ribonucleoside binding	g.chr4:57891701_57891702insAAAAATTAAACAA		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	Exception_encountered	4.37:g.57891701_57891702insAAAAATTAAACAA	ENSP00000370625:p.Arg1080fs	False	False		Somatic	0				POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R1005fs|POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1080fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1073fs	p.R1080fs			WXS	Illumina HiSeq	Phase_I	P30876	RPB2_HUMAN			24	3650_3651	+	Glioma(25;0.08)|all_neural(26;0.181)		1080					A8K1A8|Q8IZ61	Frame_Shift_Ins	INS	ENST00000381227.1	37	c.3237_3238insAAAAATTAAACAA	CCDS3511.1																																																																																				0.386	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	0	NM_000938		4:57891701
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	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
PCDHB18	54660	broad.mit.edu	37	5	140615502	140615504	+	RNA	DEL	TCG	TCG	-	rs113324586|rs10574782|rs71576109	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:140615502_140615504delTCG	ENST00000526308.1	+	0	1565_1567					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TACACCCTGTTCGTCCGCGAGAA	0.611														1159	0.23143	0.4728	0.1527	5008	,	,		16693	0.0933		0.162	False		,,,				2504	0.1748					ENST00000526308.1		NA																	0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140615502_140615504delTCG	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615502_140615504delTCG		False	False		Somatic	1						NR_001281.1		WXS	Illumina HiSeq	Phase_I					0	1565_1567	+			NA					B3KTF8	RNA	DEL	ENST00000526308.1	37																																																																																						0.611	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1	0			5:140615502
MAT2B	27430	broad.mit.edu	37	5	162943708	162943709	+	In_Frame_Ins	INS	-	-	AATAAA			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:162943708_162943709insAATAAA	ENST00000321757.6	+	5	850_851	c.711_712insAATAAA	c.(712-714)aga>AATAAAaga	p.237_238insNK	MAT2B_ENST00000280969.5_In_Frame_Ins_p.226_227insNK|MAT2B_ENST00000518095.1_In_Frame_Ins_p.237_238insNK	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	237					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	TAGCAGAGAAGAGAATGCTGGT	0.495																																						ENST00000518095.1		NA																	0				endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14						c.(712-714)aga>AATAAAaga		methionine adenosyltransferase II, beta	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)																																			SO:0001652	inframe_insertion	27430				extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	g.chr5:162943708_162943709insAATAAA	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	Exception_encountered	5.37:g.162943708_162943709insAATAAA	ENSP00000325425:p.Lys237_Arg238insAsnLys	True	False		Somatic	0				MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000280969.5_In_Frame_Ins_p.226_227insNK|MAT2B_ENST00000321757.6_In_Frame_Ins_p.237_238insNK	p.237_238insNK			WXS	Illumina HiSeq	Phase_I	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	5	784_785	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	237					B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	In_Frame_Ins	INS	ENST00000321757.6	37	c.711_712insAATAAA	CCDS4365.1																																																																																				0.495	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	0	NM_013283		5:162943708
MAT2B	27430	broad.mit.edu	37	5	162943710	162943711	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:162943710_162943711insCA	ENST00000321757.6	+	5	852_853	c.713_714insCA	c.(712-717)agaatgfs	p.RM238fs	MAT2B_ENST00000280969.5_Frame_Shift_Ins_p.RM227fs|MAT2B_ENST00000518095.1_Frame_Shift_Ins_p.RM238fs	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	238					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	GCAGAGAAGAGAATGCTGGTAA	0.495																																						ENST00000518095.1		NA																	0				endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14						c.(712-717)agaatgfs		methionine adenosyltransferase II, beta	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)																																			SO:0001589	frameshift_variant	27430				extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	g.chr5:162943710_162943711insCA	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	Exception_encountered	5.37:g.162943710_162943711insCA	ENSP00000325425:p.Arg238fs	True	False		Somatic	0				MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000280969.5_Frame_Shift_Ins_p.RM227fs|MAT2B_ENST00000321757.6_Frame_Shift_Ins_p.RM238fs	p.RM238fs			WXS	Illumina HiSeq	Phase_I	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	5	786_787	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	238					B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Frame_Shift_Ins	INS	ENST00000321757.6	37	c.713_714insCA	CCDS4365.1																																																																																				0.495	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	0	NM_013283		5:162943710
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Intron	DEL	C	C	-	rs577355457|rs201441562|rs560850105|rs72613250|rs72331392	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:109850201delC	ENST00000424296.2	-	29	3710				AK9_ENST00000355283.1_Frame_Shift_Del_p.V295fs|AK9_ENST00000341338.6_Intron	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										aaaaaaaaaacaaaaCTACTT	0.413													|||unknown(HR)	663	0.132388	0.0333	0.1167	5008	,	,		17019	0.1974		0.0964	False		,,,				2504	0.2474					ENST00000355283.1		NA																	0					NA						c.(883-885)gttfs		adenylate kinase 9							40.0	27.0	32.0					6																	109850201		2117	3722	5839	SO:0001627	intron_variant	221264							g.chr6:109850201delC	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+12G>-	6.37:g.109850201delC		True	False		Somatic	1				AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron	p.V295fs			WXS	Illumina HiSeq	Phase_I					5	1129	-			NA					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	c.883delG	CCDS55048.1																																																																																				0.413	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001145128		6:109850201
TBC1D32	221322	broad.mit.edu	37	6	121560316	121560317	+	Frame_Shift_Ins	INS	-	-	CAACCAGCAGACTTTT			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:121560316_121560317insCAACCAGCAGACTTTT	ENST00000398212.2	-	20	2312_2313	c.2263_2264insAAAAGTCTGCTGGTTG	c.(2263-2265)atafs	p.I755fs	TBC1D32_ENST00000275159.6_Frame_Shift_Ins_p.I755fs|TBC1D32_ENST00000398197.2_5'Flank	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	755					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TAATTCAGTTATAAGTTCATTA	0.347																																						ENST00000275159.6		NA																	0					NA						c.(2263-2265)atafs		TBC1 domain family, member 32																																				SO:0001589	frameshift_variant	221322							g.chr6:121560316_121560317insCAACCAGCAGACTTTT	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2263_2264insAAAAGTCTGCTGGTTG	6.37:g.121560316_121560317insCAACCAGCAGACTTTT	ENSP00000381270:p.Ile755fs	False	False		Somatic	0				TBC1D32_ENST00000398212.2_Frame_Shift_Ins_p.I755fs	p.I755fs			WXS	Illumina HiSeq	Phase_I					20	2262_2263	-			NA					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Frame_Shift_Ins	INS	ENST00000398212.2	37	c.2263_2264insAAAAGTCTGCTGGTTG	CCDS43501.1																																																																																				0.347	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	0	NM_152730		6:121560316
TBC1D32	221322	broad.mit.edu	37	6	121560318	121560319	+	Frame_Shift_Ins	INS	-	-	ATAT			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:121560318_121560319insATAT	ENST00000398212.2	-	20	2310_2311	c.2261_2262insATAT	c.(2260-2262)cttfs	p.-754fs	TBC1D32_ENST00000275159.6_Frame_Shift_Ins_p.-754fs|TBC1D32_ENST00000398197.2_5'Flank	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32						cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATTCAGTTATAAGTTCATTAAT	0.342																																						ENST00000275159.6		NA																	0					NA						c.(2260-2262)cttfs		TBC1 domain family, member 32																																				SO:0001589	frameshift_variant	221322							g.chr6:121560318_121560319insATAT	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2261_2262insATAT	6.37:g.121560318_121560319insATAT	ENSP00000381270:p.Leu754fs	False	False		Somatic	0				TBC1D32_ENST00000398212.2_Frame_Shift_Ins_p.-754fs	p.-754fs			WXS	Illumina HiSeq	Phase_I					20	2260_2261	-			NA					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Frame_Shift_Ins	INS	ENST00000398212.2	37	c.2261_2262insATAT	CCDS43501.1																																																																																				0.342	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	0	NM_152730		6:121560318
SNX13	23161	broad.mit.edu	37	7	17838732	17838733	+	In_Frame_Ins	INS	-	-	TGGAAGTAG			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:17838732_17838733insTGGAAGTAG	ENST00000409389.1	-	23	2548_2549	c.2376_2377insCTACTTCCA	c.(2374-2379)gatgaa>gatCTACTTCCAgaa	p.792_793DE>DLLPE	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_In_Frame_Ins_p.781_782DE>DLLPE			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	792					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCGAATACTTCATCCATGAGAA	0.332																																						ENST00000409389.1		NA																	0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2374-2379)gatgaa>gatCTACTTCCAgaa		sorting nexin 13																																				SO:0001652	inframe_insertion	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17838732_17838733insTGGAAGTAG	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2376_2377insCTACTTCCA	7.37:g.17838732_17838733insTGGAAGTAG	ENSP00000386705:p.Asp792_Glu793insLeuLeuPro	False	False		Somatic	0				SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_In_Frame_Ins_p.781_782DE>DLLPE	p.792_793DE>DLLPE			WXS	Illumina HiSeq	Phase_I	Q9Y5W8	SNX13_HUMAN			23	2548_2549	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		792					B2RCI9|O94821|Q8WVZ2|Q8WXH8	In_Frame_Ins	INS	ENST00000409389.1	37	c.2376_2377insCTACTTCCA																																																																																					0.332	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	0	NM_015132		7:17838732
MUC5B	727897	broad.mit.edu	37	11	1250411	1250411	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:1250411C>G	ENST00000529681.1	+	9	1046	c.988C>G	c.(988-990)Ccc>Gcc	p.P330A	MUC5B_ENST00000447027.1_Missense_Mutation_p.P330A|MUC5B_ENST00000531082.1_3'UTR	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	330	TIL 1.			PL -> T (in Ref. 2; AAC67545). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGACCTGCCCCCTCAACAT	0.687																																						ENST00000447027.1		NA																	0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(988-990)Ccc>Gcc		mucin 5B, oligomeric mucus/gel-forming							25.0	32.0	30.0					11																	1250411		2074	4190	6264	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1250411C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.988C>G	11.37:g.1250411C>G	ENSP00000436812:p.Pro330Ala	True	False		Somatic	0				MUC5B_ENST00000529681.1_Missense_Mutation_p.P330A|MUC5B_ENST00000531082.1_3'UTR	p.P330A			WXS	Illumina HiSeq	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	9	1046	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	330	PL -> T (in Ref. 2; AAC67545).		TIL 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.988C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	6.296	0.422771	0.11928	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.91521	-2.86;-2.86	3.36	1.37	0.22104	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.94863	0.8340	M	0.90145	3.09	0.41081	D	0.985529	P;D;D	0.76494	0.892;0.999;0.999	P;D;D	0.69654	0.776;0.965;0.965	D	0.93936	0.7219	9	0.87932	D	0	.	9.0327	0.36269	0.0:0.8092:0.0:0.1908	.	330;986;330	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	A	330;330;330;363	ENSP00000436812:P330A;ENSP00000415793:P330A	ENSP00000343037:P330A	P	+	1	0	MUC5B	1206987	1.000000	0.71417	0.469000	0.27204	0.138000	0.21146	2.905000	0.48727	0.620000	0.30215	0.205000	0.17691	CCC		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	0	XM_001126093		11:1250411
SYT15	83849	broad.mit.edu	37	10	46965752	46965752	+	Missense_Mutation	SNP	C	C	T	rs538202309	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:46965752C>T	ENST00000374321.4	-	5	851	c.785G>A	c.(784-786)cGt>cAt	p.R262H	SYT15_ENST00000374325.3_Missense_Mutation_p.R262H|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Missense_Mutation_p.R315H|SYT15_ENST00000503753.1_Missense_Mutation_p.R262H	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCAGATGACACGCCGGCAGTC	0.607													C|||	2	0.000399361	0.0008	0.0	5008	,	,		41009	0.001		0.0	False		,,,				2504	0.0				Ovarian(57;1152 1428 19651 37745)	ENST00000374323.4		NA																	0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(943-945)cGt>cAt		synaptotagmin XV							73.0	78.0	76.0					10																	46965752		2137	4245	6382	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46965752C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.785G>A	10.37:g.46965752C>T	ENSP00000363441:p.Arg262His	False	False		Somatic	0				SYT15_ENST00000374325.3_Missense_Mutation_p.R262H|SYT15_ENST00000503753.1_Missense_Mutation_p.R262H|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.R262H	p.R315H			WXS	Illumina HiSeq	Phase_I	Q9BQS2	SYT15_HUMAN			4	1531	-			NA			C2 2.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.944G>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	6.785	0.513877	0.12944	.	.	ENSG00000204176	ENST00000416127;ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321	D;T;T;T;T	0.95272	-3.66;3.13;3.13;3.13;3.13	5.13	-5.29	0.02747	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	1.006260	0.07978	N	0.985110	D	0.83788	0.5330	N	0.12182	0.205	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.09377	0.002;0.004	T	0.71002	-0.4718	10	0.36615	T	0.2	.	3.5654	0.07897	0.1045:0.2315:0.1321:0.5319	.	262;262	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	H	262;52;262;262;101;315;262	ENSP00000363448:R52H;ENSP00000363445:R262H;ENSP00000427607:R262H;ENSP00000363443:R315H;ENSP00000363441:R262H	ENSP00000363441:R262H	R	-	2	0	SYT15	46385758	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-2.197000	0.01240	-0.739000	0.04809	-0.254000	0.11334	CGT		0.607	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	0	NM_031912		10:46965752
ECI2	10455	broad.mit.edu	37	6	4119468	4119468	+	Silent	SNP	C	C	T	rs114924821		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:4119468C>T	ENST00000380118.3	-	8	873	c.837G>A	c.(835-837)ccG>ccA	p.P279P	C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000380125.2_Silent_p.P249P|ECI2_ENST00000361538.2_Silent_p.P249P|ECI2_ENST00000413766.2_Silent_p.P112P|ECI2_ENST00000465828.1_Silent_p.P249P|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	279	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AGCATCCTTCCGGACTTTGGC	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		19607	0.0		0.001	False		,,,				2504	0.0					ENST00000465828.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.(745-747)ccG>ccA		enoyl-CoA delta isomerase 2		C	,,,	0,4406		0,0,2203	86.0	88.0	87.0		,747,747,837	-10.6	0.2	6	dbSNP_133	87	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	ECI2,C6orf201	NM_001085401.1,NM_001166010.1,NM_006117.2,NM_206836.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,249/365,249/365,279/395	4119468	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4119468C>T	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.837G>A	6.37:g.4119468C>T		False	False		Somatic	0				ECI2_ENST00000361538.2_Silent_p.P249P|ECI2_ENST00000380118.3_Silent_p.P279P|C6orf201_ENST00000430835.2_Intron|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000413766.2_Silent_p.P112P|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Silent_p.P249P	p.P249P			WXS	Illumina HiSeq	Phase_I	O75521	ECI2_HUMAN			8	1032	-			279			ECH-like.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Silent	SNP	ENST00000380118.3	37	c.747G>A	CCDS43420.2																																																																																				0.363	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	0	NM_006117		6:4119468
STRN3	29966	broad.mit.edu	37	14	31404475	31404475	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:31404475G>A	ENST00000357479.5	-	7	1078	c.882C>T	c.(880-882)gaC>gaT	p.D294D	STRN3_ENST00000355683.5_Silent_p.D294D|STRN3_ENST00000366206.2_5'Flank	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	294					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TATCAGGATCGTCAGTTAGGT	0.398																																						ENST00000355683.5		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(880-882)gaC>gaT		striatin, calmodulin binding protein 3							104.0	101.0	102.0					14																	31404475		2203	4300	6503	SO:0001819	synonymous_variant	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31404475G>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.882C>T	14.37:g.31404475G>A		False	False		Somatic	0				STRN3_ENST00000357479.5_Silent_p.D294D	p.D294D	NM_014574.3	NP_055389.3	WXS	Illumina HiSeq	Phase_I	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	7	1097	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		294					A2RTX7|A6NHZ7|Q9NRA5	Silent	SNP	ENST00000357479.5	37	c.882C>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872216	0.17322	.	.	ENSG00000196792	ENST00000556577	.	.	.	5.68	0.861	0.19048	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6586	8.8975	0.35474	0.71:0.0:0.29:0.0	.	.	.	.	X	55	.	.	R	-	1	2	STRN3	30474226	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.139000	0.31504	0.117000	0.18138	-0.367000	0.07326	CGA		0.398	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	0	NM_014574		14:31404475
BANP	54971	broad.mit.edu	37	16	88066732	88066732	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:88066732C>T	ENST00000393207.1	+	9	1278	c.1057C>T	c.(1057-1059)Cca>Tca	p.P353S	BANP_ENST00000355022.4_Missense_Mutation_p.P322S|BANP_ENST00000355163.5_Missense_Mutation_p.P328S|BANP_ENST00000538234.1_Missense_Mutation_p.P361S|BANP_ENST00000393208.2_Missense_Mutation_p.P322S|BANP_ENST00000479780.2_Missense_Mutation_p.P322S|BANP_ENST00000286122.7_Missense_Mutation_p.P353S	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	353	DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GATGAGCACCCCACCTCCTGC	0.647																																						ENST00000393207.1		NA																	0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(1057-1059)Cca>Tca		BTG3 associated nuclear protein							29.0	25.0	26.0					16																	88066732		2198	4300	6498	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88066732C>T	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1057C>T	16.37:g.88066732C>T	ENSP00000376902:p.Pro353Ser	True	False		Somatic	0				BANP_ENST00000393208.2_Missense_Mutation_p.P322S|BANP_ENST00000479780.2_Missense_Mutation_p.P322S|BANP_ENST00000355163.5_Missense_Mutation_p.P328S|BANP_ENST00000538234.1_Missense_Mutation_p.P361S|BANP_ENST00000286122.7_Missense_Mutation_p.P353S|BANP_ENST00000355022.4_Missense_Mutation_p.P322S	p.P353S	NM_001173543.1	NP_001167014.1	WXS	Illumina HiSeq	Phase_I	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	9	1278	+			353			DNA-binding (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.1057C>T	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	7.093	0.572586	0.13623	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	4.28	1.91	0.25777	.	0.524714	0.20730	N	0.086739	T	0.34106	0.0886	N	0.19112	0.55	0.28197	N	0.927508	B;B;B;D;B;B	0.76494	0.02;0.042;0.001;0.999;0.002;0.359	B;B;B;D;B;B	0.79784	0.024;0.08;0.001;0.993;0.002;0.167	T	0.17776	-1.0358	9	0.09590	T	0.72	.	6.988	0.24739	0.1477:0.4406:0.4117:0.0	.	361;328;322;353;322;322	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	S	353;328;318;322;322;322;322;361;353	.	ENSP00000286122:P353S	P	+	1	0	BANP	86624233	0.387000	0.25188	0.864000	0.33941	0.030000	0.12068	1.150000	0.31639	0.894000	0.36317	0.305000	0.20034	CCA		0.647	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	0	NM_017869		16:88066732
C1QTNF6	114904	broad.mit.edu	37	22	37578651	37578651	+	Silent	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:37578651C>T	ENST00000337843.2	-	3	489	c.414G>A	c.(412-414)ccG>ccA	p.P138P	C1QTNF6_ENST00000397110.2_Silent_p.P138P|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Intron|C1QTNF6_ENST00000470655.1_Intron	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	119	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCTTCTGGCACGGGGCGCCGG	0.672																																						ENST00000337843.2		NA																	0				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(412-414)ccG>ccA		C1q and tumor necrosis factor related protein 6							30.0	34.0	33.0					22																	37578651		2203	4300	6503	SO:0001819	synonymous_variant	114904					collagen		g.chr22:37578651C>T	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.414G>A	22.37:g.37578651C>T		True	False		Somatic	0				C1QTNF6_ENST00000255836.6_Intron|C1QTNF6_ENST00000470655.1_Intron|C1QTNF6_ENST00000397110.2_Silent_p.P138P|RP1-151B14.6_ENST00000419128.1_RNA	p.P138P	NM_031910.3	NP_114116.3	WXS	Illumina HiSeq	Phase_I	Q9BXI9	C1QT6_HUMAN			3	489	-			119			C1q.		Q5H9G8|Q6ZRM7	Silent	SNP	ENST00000337843.2	37	c.414G>A	CCDS13943.1																																																																																				0.672	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	0	NM_182486		22:37578651
OSGEP	55644	broad.mit.edu	37	14	20916117	20916117	+	Nonsense_Mutation	SNP	G	G	A	rs551255070		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:20916117G>A	ENST00000206542.4	-	8	1160	c.739C>T	c.(739-741)Cga>Tga	p.R247*	OSGEP_ENST00000554249.1_Nonsense_Mutation_p.R65*|OSGEP_ENST00000555656.1_Nonsense_Mutation_p.R48*	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase											endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GCCATGGCTCGCTCTGTGATC	0.453																																						ENST00000555656.1		NA																	0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(142-144)Cga>Tga		O-sialoglycoprotein endopeptidase							104.0	108.0	107.0					14																	20916117		2203	4300	6503	SO:0001587	stop_gained	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20916117G>A	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.739C>T	14.37:g.20916117G>A	ENSP00000206542:p.Arg247*	True	False		Somatic	0				OSGEP_ENST00000554249.1_Nonsense_Mutation_p.R65*|OSGEP_ENST00000206542.4_Nonsense_Mutation_p.R247*	p.R48*			WXS	Illumina HiSeq	Phase_I	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	4	2159	-	all_cancers(95;0.00123)	all_lung(585;0.235)	247						Nonsense_Mutation	SNP	ENST00000206542.4	37	c.142C>T	CCDS9549.1	.	.	.	.	.	.	.	.	.	.	G	38	7.251523	0.98164	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4092	16.4221	0.83766	0.0:0.0:1.0:0.0	.	.	.	.	X	48;247;65;65;48	.	ENSP00000206542:R247X	R	-	1	2	OSGEP	19985957	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.358000	0.44134	2.141000	0.66446	0.455000	0.32223	CGA		0.453	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	0	NM_017807		14:20916117
TRPV6	55503	broad.mit.edu	37	7	142574925	142574925	+	Missense_Mutation	SNP	G	G	A	rs148239732		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:142574925G>A	ENST00000359396.3	-	4	702	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	153					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGACTACGGCGGAAGGCAGTG	0.622																																						ENST00000359396.3		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(457-459)Cgc>Tgc		transient receptor potential cation channel, subfamily V, member 6		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	66.0	69.0		457	0.9	0.5	7	dbSNP_134	69	0,8600		0,0,4300	no	missense	TRPV6	NM_018646.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	153/726	142574925	1,13005	2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142574925G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.457C>T	7.37:g.142574925G>A	ENSP00000352358:p.Arg153Cys	False	False		Somatic	0				RP11-114L10.2_ENST00000438839.1_RNA	p.R153C	NM_018646.3	NP_061116	WXS	Illumina HiSeq	Phase_I	Q9H1D0	TRPV6_HUMAN			4	702	-	Melanoma(164;0.059)		153					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.457C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884573	0.33255	2.27E-4	0.0	ENSG00000165125	ENST00000359396	T	0.53640	0.61	3.86	0.902	0.19290	Ankyrin repeat-containing domain (3);	0.461329	0.22855	N	0.054809	T	0.27933	0.0688	N	0.24115	0.695	0.41057	D	0.985342	B	0.18863	0.031	B	0.21546	0.035	T	0.05716	-1.0868	10	0.46703	T	0.11	-1.2388	3.8826	0.09085	0.3834:0.0:0.4439:0.1726	.	153	Q9H1D0	TRPV6_HUMAN	C	153	ENSP00000352358:R153C	ENSP00000352358:R153C	R	-	1	0	TRPV6	142285047	0.951000	0.32395	0.502000	0.27614	0.877000	0.50540	1.532000	0.36029	0.307000	0.22880	0.655000	0.94253	CGC		0.622	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	0	NM_014274		7:142574925
ZNF804A	91752	broad.mit.edu	37	2	185802911	185802911	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:185802911G>C	ENST00000302277.6	+	4	3382	c.2788G>C	c.(2788-2790)Gac>Cac	p.D930H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	930							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAGCAATTGACAATACCCT	0.378																																						ENST00000302277.6		NA																	0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2788-2790)Gac>Cac		zinc finger protein 804A							90.0	87.0	88.0					2																	185802911		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802911G>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2788G>C	2.37:g.185802911G>C	ENSP00000303252:p.Asp930His	False	False		Somatic	0					p.D930H	NM_194250.1	NP_919226.1	WXS	Illumina HiSeq	Phase_I	Q7Z570	Z804A_HUMAN			4	3382	+			930					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2788G>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	3.883	-0.025550	0.07589	.	.	ENSG00000170396	ENST00000302277	T	0.06142	3.34	5.57	0.657	0.17850	.	1.003210	0.08031	N	0.993607	T	0.06188	0.0160	L	0.36672	1.1	0.09310	N	1	P	0.34780	0.468	B	0.35971	0.215	T	0.40850	-0.9541	10	0.62326	D	0.03	-0.8515	5.0665	0.14585	0.3841:0.2901:0.3258:0.0	.	930	Q7Z570	Z804A_HUMAN	H	930	ENSP00000303252:D930H	ENSP00000303252:D930H	D	+	1	0	ZNF804A	185511156	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.072000	0.14617	0.039000	0.15632	0.591000	0.81541	GAC		0.378	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	0	NM_194250		2:185802911
BTF3	689	broad.mit.edu	37	5	72798334	72798334	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798334A>G	ENST00000335895.8	+	3	242	c.91A>G	c.(91-93)Aag>Gag	p.K31E	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000380591.3_Missense_Mutation_p.K75E	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	0	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CAGAAAGAAGAAGGTGGTTCA	0.383																																						ENST00000380591.3		NA																	0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(223-225)Aag>Gag		basic transcription factor 3							57.0	57.0	57.0					5																	72798334		2203	4300	6503	SO:0001583	missense	689				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding	g.chr5:72798334A>G	M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"""nascent-polypeptide-associated complex beta polypeptide"""	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.91A>G	5.37:g.72798334A>G	ENSP00000338516:p.Lys31Glu	True	False		Somatic	0				BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.K31E	p.K75E	NM_001037637.1	NP_001032726.1	WXS	Illumina HiSeq	Phase_I	P20290	BTF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)	3	442	+		Lung NSC(167;0.00405)|Ovarian(174;0.0175)	75	Missing (in Ref. 2; AAA58398).				B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000335895.8	37	c.223A>G	CCDS4019.1	.	.	.	.	.	.	.	.	.	.	A	32	5.119843	0.94385	.	.	ENSG00000145741	ENST00000335895;ENST00000380591	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	T	0.55401	0.1918	M	0.64404	1.975	0.80722	D	1	P	0.36647	0.563	B	0.32022	0.139	T	0.62320	-0.6879	9	0.87932	D	0	-11.6055	15.9962	0.80250	1.0:0.0:0.0:0.0	.	75	P20290	BTF3_HUMAN	E	31;75	.	ENSP00000338516:K31E	K	+	1	0	BTF3	72834090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.252000	0.95491	2.234000	0.73211	0.533000	0.62120	AAG		0.383	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2	0	NM_001207		5:72798334
CABIN1	23523	broad.mit.edu	37	22	24451432	24451432	+	Silent	SNP	G	G	A	rs200436672	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:24451432G>A	ENST00000398319.2	+	9	1288	c.903G>A	c.(901-903)tcG>tcA	p.S301S	CABIN1_ENST00000405822.2_Silent_p.S251S|CABIN1_ENST00000263119.5_Silent_p.S301S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	301					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGATTTGTCGGACTACCAGG	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		19364	0.002		0.0	False		,,,				2504	0.0					ENST00000398319.2		NA																	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(901-903)tcG>tcA		calcineurin binding protein 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	118.0	105.0	110.0		903,753,903	-8.7	0.8	22		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	301/2221,251/2171,301/2221	24451432	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24451432G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.903G>A	22.37:g.24451432G>A		False	False		Somatic	0				CABIN1_ENST00000263119.5_Silent_p.S301S|CABIN1_ENST00000405822.2_Silent_p.S251S	p.S301S	NM_001199281.1	NP_001186210.1	WXS	Illumina HiSeq	Phase_I	Q9Y6J0	CABIN_HUMAN			9	1288	+			301					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.903G>A	CCDS13823.1																																																																																				0.572	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	0	NM_012295		22:24451432
ATR	545	broad.mit.edu	37	3	142281392	142281392	+	Silent	SNP	A	A	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:142281392A>G	ENST00000350721.4	-	4	973	c.852T>C	c.(850-852)gaT>gaC	p.D284D	ATR_ENST00000383101.3_Silent_p.D284D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	284					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTGGTCAGTATCCATTTCTA	0.348								Other conserved DNA damage response genes																														ENST00000350721.4		NA																	0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(850-852)gaT>gaC	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							83.0	89.0	87.0					3																	142281392		2202	4300	6502	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281392A>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.852T>C	3.37:g.142281392A>G		False	False		Somatic	0				ATR_ENST00000383101.3_Silent_p.D284D	p.D284D	NM_001184.3	NP_001175.2	WXS	Illumina HiSeq	Phase_I	Q13535	ATR_HUMAN			4	973	-			284					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.852T>C	CCDS3124.1																																																																																				0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	0	NM_001184		3:142281392
SPANXC	64663	broad.mit.edu	37	X	140335774	140335774	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:140335774C>T	ENST00000358993.2	-	2	208	c.170G>A	c.(169-171)aGg>aAg	p.R57K		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	57						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TTTCACGTTCCTCCTGTAGCG	0.502																																						ENST00000358993.2		NA																	0				large_intestine(2)|lung(3)|pancreas(1)	6						c.(169-171)aGg>aAg		SPANX family, member C							208.0	150.0	170.0					X																	140335774		2138	4137	6275	SO:0001583	missense	64663					cytoplasm|nucleus		g.chrX:140335774C>T	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 3"""	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.170G>A	X.37:g.140335774C>T	ENSP00000351884:p.Arg57Lys	False	False		Somatic	0					p.R57K	NM_022661.2	NP_073152.1	WXS	Illumina HiSeq	Phase_I	Q9NY87	SPNXC_HUMAN			2	208	-	Acute lymphoblastic leukemia(192;7.65e-05)		57					Q32WL9|Q5JX88	Missense_Mutation	SNP	ENST00000358993.2	37	c.170G>A	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	c	9.847	1.192504	0.21954	.	.	ENSG00000198573	ENST00000358993	T	0.05925	3.37	.	.	.	.	.	.	.	.	T	0.09818	0.0241	N	0.25485	0.75	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.33523	-0.9865	7	0.12766	T	0.61	.	.	.	.	.	57	Q9NY87	SPNXC_HUMAN	K	57	ENSP00000351884:R57K	ENSP00000351884:R57K	R	-	2	0	SPANXC	140163440	0.024000	0.19004	0.009000	0.14445	0.009000	0.06853	0.064000	0.14437	0.328000	0.23435	0.330000	0.21533	AGG		0.502	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	0	NM_022661		X:140335774
ZNF71	58491	broad.mit.edu	37	19	57133444	57133444	+	Silent	SNP	G	G	A	rs201252925		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:57133444G>A	ENST00000328070.6	+	3	1023	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGCGCACGCACACCGGGG	0.677																																						ENST00000328070.6		NA																	0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(787-789)acG>acA		zinc finger protein 71							53.0	54.0	54.0					19																	57133444		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133444G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.789G>A	19.37:g.57133444G>A		True	False		Somatic	0					p.T263T	NM_021216.4	NP_067039.1	WXS	Illumina HiSeq	Phase_I	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1023	+			263					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.789G>A	CCDS12947.1																																																																																				0.677	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	0	NM_021216		19:57133444
TSSK1B	83942	broad.mit.edu	37	5	112770240	112770240	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:112770240G>A	ENST00000390666.3	-	1	488	c.297C>T	c.(295-297)ctC>ctT	p.L99L	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	99	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGATTAACTCGAGGAGGTCGC	0.537																																						ENST00000390666.3		NA																	0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(295-297)ctC>ctT		testis-specific serine kinase 1B							61.0	66.0	64.0					5																	112770240		2190	4296	6486	SO:0001819	synonymous_variant	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770240G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.297C>T	5.37:g.112770240G>A		False	False		Somatic	0				CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	p.L99L	NM_032028.3	NP_114417.1	WXS	Illumina HiSeq	Phase_I	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	488	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	99			Protein kinase.		B2R8D9	Silent	SNP	ENST00000390666.3	37	c.297C>T	CCDS4112.1																																																																																				0.537	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	0	NM_032028		5:112770240
HDAC4	9759	broad.mit.edu	37	2	240061399	240061399	+	Missense_Mutation	SNP	A	A	G	rs144813118	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:240061399A>G	ENST00000345617.3	-	9	1750	c.959T>C	c.(958-960)gTc>gCc	p.V320A	HDAC4_ENST00000541256.1_Missense_Mutation_p.V289A|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	320					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GATGCTGGGGACGGCGGGCGC	0.657													A|||	9	0.00179712	0.0068	0.0	5008	,	,		18951	0.0		0.0	False		,,,				2504	0.0					ENST00000345617.3		NA																	0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(958-960)gTc>gCc		histone deacetylase 4		A	ALA/VAL	22,4384	26.2+/-53.5	0,22,2181	83.0	89.0	87.0		959	2.1	0.3	2	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HDAC4	NM_006037.3	64	0,23,6480	GG,GA,AA		0.0116,0.4993,0.1768	benign	320/1085	240061399	23,12983	2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240061399A>G	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.959T>C	2.37:g.240061399A>G	ENSP00000264606:p.Val320Ala	True	False		Somatic	0				HDAC4_ENST00000541256.1_Missense_Mutation_p.V289A|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR	p.V320A	NM_006037.3	NP_006028.2	WXS	Illumina HiSeq	Phase_I	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	9	1750	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	320					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.959T>C	CCDS2529.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	A|A	11.20|11.20	1.568343|1.568343	0.28003|0.28003	0.004993|0.004993	1.16E-4|1.16E-4	ENSG00000068024|ENSG00000068024	ENST00000445704|ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	.|T;T	.|0.58797	.|0.31;1.47	4.58|4.58	2.12|2.12	0.27331|0.27331	.|.	.|0.429191	.|0.25601	.|N	.|0.029556	T|T	0.39600|0.39600	0.1084|0.1084	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.17852	.|0.0;0.001;0.004;0.004;0.024;0.004	.|B;B;B;B;B;B	.|0.18263	.|0.002;0.004;0.006;0.003;0.021;0.005	T|T	0.11251|0.11251	-1.0595|-1.0595	5|9	.|.	.|.	.|.	.|.	8.1008|8.1008	0.30857|0.30857	0.8068:0.0:0.1932:0.0|0.8068:0.0:0.1932:0.0	.|.	.|315;203;289;289;288;320	.|B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.|.;.;.;.;.;HDAC4_HUMAN	P|A	64|320;203;289;203	.|ENSP00000264606:V320A;ENSP00000443057:V289A	.|.	S|V	-|-	1|2	0|0	HDAC4|HDAC4	239726336|239726336	0.991000|0.991000	0.36638|0.36638	0.252000|0.252000	0.24328|0.24328	0.347000|0.347000	0.29111|0.29111	4.544000|4.544000	0.60691|0.60691	0.719000|0.719000	0.32188|0.32188	0.477000|0.477000	0.44152|0.44152	TCC|GTC		0.657	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	0	NM_006037		2:240061399
MAGEB1	4112	broad.mit.edu	37	X	30269599	30269599	+	Missense_Mutation	SNP	C	C	T	rs145293151		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:30269599C>T	ENST00000378981.3	+	4	1310	c.989C>T	c.(988-990)aCg>aTg	p.T330M	MAGEB1_ENST00000397550.1_Missense_Mutation_p.T330M|MAGEB1_ENST00000397548.2_Missense_Mutation_p.T330M	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	330										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTACTGCCACGACTTTTAGA	0.527																																						ENST00000378981.3		NA																	0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(988-990)aCg>aTg		melanoma antigen family B, 1		C	MET/THR,MET/THR,MET/THR	0,3833		0,0,1631,571	79.0	72.0	75.0		989,989,989	-6.2	0.0	X	dbSNP_134	75	1,6727		0,1,2427,1872	yes	missense,missense,missense	MAGEB1	NM_002363.4,NM_177404.2,NM_177415.2	81,81,81	0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging	330/348,330/348,330/348	30269599	1,10560	2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269599C>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.989C>T	X.37:g.30269599C>T	ENSP00000368264:p.Thr330Met	False	False		Somatic	0				MAGEB1_ENST00000397550.1_Missense_Mutation_p.T330M|MAGEB1_ENST00000397548.2_Missense_Mutation_p.T330M	p.T330M	NM_002363.4	NP_002354.2	WXS	Illumina HiSeq	Phase_I	P43366	MAGB1_HUMAN			4	1310	+			330					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.989C>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	1.310	-0.602440	0.03744	0.0	1.49E-4	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01629	4.72;4.72;4.72	3.09	-6.18	0.02085	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	P	0.34892	0.474	B	0.19666	0.026	T	0.27806	-1.0063	9	0.31617	T	0.26	.	2.6292	0.04939	0.1313:0.4097:0.2575:0.2015	.	330	P43366	MAGB1_HUMAN	M	330	ENSP00000368264:T330M;ENSP00000380683:T330M;ENSP00000380681:T330M	ENSP00000368264:T330M	T	+	2	0	MAGEB1	30179520	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.555000	0.00925	-4.807000	0.00031	-1.407000	0.01130	ACG		0.527	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	0	NM_002363		X:30269599
ZNF783	100289678	broad.mit.edu	37	7	148979222	148979222	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:148979222C>T	ENST00000434415.1	+	6	1592	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGCCTTCCGCCGGCCCTCGGA	0.701																																						ENST00000434415.1		NA																	0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(1429-1431)Cgg>Tgg		zinc finger family member 783							14.0	17.0	16.0					7																	148979222		2158	4241	6399	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148979222C>T	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.1429C>T	7.37:g.148979222C>T	ENSP00000410890:p.Arg477Trp	False	False		Somatic	0				ZNF783_ENST00000489518.1_Intron	p.R477W	NM_001195220.1	NP_001182149.1	WXS	Illumina HiSeq	Phase_I	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		6	1592	+	Melanoma(164;0.15)		477					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.1429C>T	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719045	0.48622	.	.	ENSG00000204946	ENST00000434415	T	0.30182	1.54	4.37	3.47	0.39725	.	.	.	.	.	T	0.39253	0.1071	L	0.51422	1.61	0.80722	D	1	.	.	.	.	.	.	T	0.23084	-1.0198	7	0.56958	D	0.05	.	11.4851	0.50348	0.1814:0.8186:0.0:0.0	.	.	.	.	W	477	ENSP00000410890:R477W	ENSP00000410890:R477W	R	+	1	2	ZNF783	148610155	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.235000	0.09016	1.170000	0.42753	0.462000	0.41574	CGG		0.701	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	0	NM_001195220		7:148979222
SLC36A3	285641	broad.mit.edu	37	5	150660632	150660632	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:150660632C>G	ENST00000335230.3	-	9	1498	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E404Q	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	363						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCAGCTCTCTGACACTTGG	0.507																																						ENST00000335230.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(1087-1089)Gag>Cag		solute carrier family 36, member 3							178.0	145.0	156.0					5																	150660632		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150660632C>G	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1087G>C	5.37:g.150660632C>G	ENSP00000334750:p.Glu363Gln	True	False		Somatic	0				SLC36A3_ENST00000377713.3_Missense_Mutation_p.E404Q	p.E363Q	NM_181774.3	NP_861439.3	WXS	Illumina HiSeq	Phase_I	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1498	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	363					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.1087G>C	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070848	0.36566	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02197	4.4;4.4	4.06	4.06	0.47325	.	0.363547	0.29752	N	0.011295	T	0.04003	0.0112	L	0.57130	1.785	0.38876	D	0.956801	B;B;B	0.33777	0.041;0.425;0.109	B;B;B	0.36378	0.07;0.223;0.061	T	0.54016	-0.8356	10	0.15952	T	0.53	.	16.7998	0.85611	0.0:1.0:0.0:0.0	.	404;363;348	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	Q	363;404	ENSP00000334750:E363Q;ENSP00000366942:E404Q	ENSP00000334750:E363Q	E	-	1	0	SLC36A3	150640825	0.985000	0.35326	0.994000	0.49952	0.828000	0.46876	3.426000	0.52778	2.249000	0.74217	0.561000	0.74099	GAG		0.507	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	0	NM_181774		5:150660632
CD81-AS1	101927682	broad.mit.edu	37	11	2356954	2356954	+	RNA	SNP	G	G	A	rs532812324	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:2356954G>A	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							ACTGCGGTCCGAGGTAACGAA	0.512													-|||	2	0.000399361	0.0008	0.0	5008	,	,		21305	0.0		0.0	False		,,,				2504	0.001					ENST00000413483.1		NA																	0					NA															198.0	174.0	182.0					11																	2356954		2202	4299	6501			0							g.chr11:2356954G>A																													11.37:g.2356954G>A		False	False		Somatic	0				RPL26P30_ENST00000602923.1_RNA				WXS	Illumina HiSeq	Phase_I					0	407	-			NA						RNA	SNP	ENST00000413483.1	37																																																																																						0.512	AC129929.5-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000143277.1	0			11:2356954
EPB41L1	2036	broad.mit.edu	37	20	34785959	34785959	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr20:34785959A>G	ENST00000338074.2	+	14	1825	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	EPB41L1_ENST00000202028.5_Missense_Mutation_p.N481S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.N512S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.N481S|EPB41L1_ENST00000373950.2_Missense_Mutation_p.N446S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.N555S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	555					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGAAAGCCAATGAGGTAGGT	0.597																																						ENST00000338074.2		NA																	0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(1663-1665)aAt>aGt		erythrocyte membrane protein band 4.1-like 1							21.0	23.0	22.0					20																	34785959		2202	4298	6500	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34785959A>G	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1664A>G	20.37:g.34785959A>G	ENSP00000337168:p.Asn555Ser	False	False		Somatic	0				EPB41L1_ENST00000373950.2_Missense_Mutation_p.N446S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.N555S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.N481S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.N512S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.N481S	p.N555S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	WXS	Illumina HiSeq	Phase_I	Q9H4G0	E41L1_HUMAN			14	1825	+	Breast(12;0.0239)		555					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1664A>G	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.414|0.414	-0.911860|-0.911860	0.02434|0.02434	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000451082|ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941;ENST00000454226	.|D;T;D;D;D;D	.|0.82526	.|-1.54;-1.47;-1.54;-1.62;-1.55;-1.55	5.15|5.15	-0.0314|-0.0314	0.13910|0.13910	.|.	.|0.285159	.|0.37857	.|N	.|0.001905	T|T	0.59155|0.59155	0.2173|0.2173	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.001;0.0;0.001	T|T	0.44667|0.44667	-0.9313|-0.9313	5|10	.|0.08837	.|T	.|0.75	.|.	8.306|8.306	0.32042|0.32042	0.3337:0.138:0.5284:0.0|0.3337:0.138:0.5284:0.0	.|.	.|555;555;512;446;446;481	.|B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.|.;E41L1_HUMAN;.;.;.;.	V|S	121|481;446;555;446;481;512;129;555;555;53	.|ENSP00000202028:N481S;ENSP00000363061:N446S;ENSP00000399214:N481S;ENSP00000363057:N512S;ENSP00000337168:N555S;ENSP00000363052:N555S	.|ENSP00000202028:N481S	M|N	+|+	1|2	0|0	EPB41L1|EPB41L1	34249373|34249373	0.013000|0.013000	0.17824|0.17824	0.396000|0.396000	0.26296|0.26296	0.942000|0.942000	0.58702|0.58702	0.227000|0.227000	0.17795|0.17795	-0.280000|-0.280000	0.09154|0.09154	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.597	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	0	NM_012156		20:34785959
FBXL7	23194	broad.mit.edu	37	5	15937245	15937245	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:15937245C>T	ENST00000504595.1	+	4	1907	c.1426C>T	c.(1426-1428)Cgc>Tgc	p.R476C	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R429C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R464C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	476					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R476C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTTTGTCAAACGCCACTGCAA	0.577																																						ENST00000504595.1		NA																	1	Substitution - Missense(1)	p.R476C(1)	lung(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1426-1428)Cgc>Tgc		F-box and leucine-rich repeat protein 7							21.0	24.0	23.0					5																	15937245		2120	4246	6366	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937245C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1426C>T	5.37:g.15937245C>T	ENSP00000423630:p.Arg476Cys	True	False		Somatic	0				FBXL7_ENST00000510662.1_Missense_Mutation_p.R429C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R464C	p.R476C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	WXS	Illumina HiSeq	Phase_I	Q9UJT9	FBXL7_HUMAN			4	1907	+			476					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1426C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928841	0.92389	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.54866	0.55;0.55;0.55	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	P	0.56216	0.794	T	0.69250	-0.5194	10	0.87932	D	0	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	476	Q9UJT9	FBXL7_HUMAN	C	476;429;464	ENSP00000423630:R476C;ENSP00000425184:R429C;ENSP00000329632:R464C	ENSP00000329632:R464C	R	+	1	0	FBXL7	15990245	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.731000	0.84895	2.521000	0.84997	0.650000	0.86243	CGC		0.577	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	0	NM_012304		5:15937245
BTF3	689	broad.mit.edu	37	5	72798335	72798335	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798335A>T	ENST00000335895.8	+	3	243	c.92A>T	c.(91-93)aAg>aTg	p.K31M	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000380591.3_Missense_Mutation_p.K75M	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	0	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		AGAAAGAAGAAGGTGGTTCAT	0.388																																						ENST00000380591.3		NA																	0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(223-225)aAg>aTg		basic transcription factor 3							57.0	57.0	57.0					5																	72798335		2203	4300	6503	SO:0001583	missense	689				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding	g.chr5:72798335A>T	M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"""nascent-polypeptide-associated complex beta polypeptide"""	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.92A>T	5.37:g.72798335A>T	ENSP00000338516:p.Lys31Met	True	False		Somatic	0				BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.K31M	p.K75M	NM_001037637.1	NP_001032726.1	WXS	Illumina HiSeq	Phase_I	P20290	BTF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)	3	443	+		Lung NSC(167;0.00405)|Ovarian(174;0.0175)	75	Missing (in Ref. 2; AAA58398).				B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000335895.8	37	c.224A>T	CCDS4019.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.775465	0.90108	.	.	ENSG00000145741	ENST00000335895;ENST00000380591	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	T	0.77412	0.4126	M	0.81112	2.525	0.80722	D	1	D	0.64830	0.994	P	0.58391	0.838	T	0.81335	-0.0979	9	0.87932	D	0	-11.6055	15.9962	0.80250	1.0:0.0:0.0:0.0	.	75	P20290	BTF3_HUMAN	M	31;75	.	ENSP00000338516:K31M	K	+	2	0	BTF3	72834091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.252000	0.95491	2.234000	0.73211	0.533000	0.62120	AAG		0.388	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2	0	NM_001207		5:72798335
PPP1R26	9858	broad.mit.edu	37	9	138376844	138376844	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr9:138376844C>T	ENST00000356818.2	+	4	1037	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PPP1R26_ENST00000605286.1_Missense_Mutation_p.S163F|PPP1R26_ENST00000604351.1_Missense_Mutation_p.S163F|PPP1R26_ENST00000605660.1_Missense_Mutation_p.S163F|PPP1R26_ENST00000401470.3_Missense_Mutation_p.S163F|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	163					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCCCAGCCTTCCAGGGCCGCA	0.662																																						ENST00000356818.2		NA																	0					NA						c.(487-489)tCc>tTc		protein phosphatase 1, regulatory subunit 26							16.0	21.0	19.0					9																	138376844		2195	4277	6472	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138376844C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.488C>T	9.37:g.138376844C>T	ENSP00000349274:p.Ser163Phe	False	False		Somatic	0				PPP1R26_ENST00000605286.1_Missense_Mutation_p.S163F|PPP1R26_ENST00000605660.1_Missense_Mutation_p.S163F|PPP1R26_ENST00000604351.1_Missense_Mutation_p.S163F|PPP1R26_ENST00000401470.3_Missense_Mutation_p.S163F|PPP1R26_ENST00000602993.1_Intron	p.S163F	NM_014811.3	NP_055626.3	WXS	Illumina HiSeq	Phase_I	Q5T8A7	K0649_HUMAN			4	1037	+			163					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.488C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850195	0.51270	.	.	ENSG00000196422	ENST00000356818	T	0.42131	0.98	4.96	-1.82	0.07857	.	2.106900	0.03559	U	0.226796	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.21314	-1.0249	10	0.38643	T	0.18	.	6.7987	0.23738	0.0:0.5175:0.1538:0.3286	.	163	Q5T8A7	PPR26_HUMAN	F	163	ENSP00000349274:S163F	ENSP00000349274:S163F	S	+	2	0	KIAA0649	137516665	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.487000	0.22356	-0.225000	0.09913	-0.291000	0.09656	TCC		0.662	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	0	NM_014811		9:138376844
OTOP3	347741	broad.mit.edu	37	17	72943167	72943167	+	Missense_Mutation	SNP	C	C	T	rs145029319		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:72943167C>T	ENST00000328801.4	+	6	1217	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	406						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GAGCTGGACACGGTCAAGAAC	0.607																																						ENST00000328801.4		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1216-1218)aCg>aTg		otopetrin 3		C	MET/THR	0,4406		0,0,2203	96.0	91.0	93.0		1217	3.6	1.0	17	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTOP3	NM_178233.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	406/597	72943167	1,13005	2203	4300	6503	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72943167C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1217C>T	17.37:g.72943167C>T	ENSP00000328090:p.Thr406Met	False	False		Somatic	0					p.T406M	NM_178233.1	NP_839947.1	WXS	Illumina HiSeq	Phase_I	Q7RTS5	OTOP3_HUMAN			6	1217	+	all_lung(278;0.151)|Lung NSC(278;0.185)		406						Missense_Mutation	SNP	ENST00000328801.4	37	c.1217C>T	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136971	0.37728	0.0	1.16E-4	ENSG00000182938	ENST00000328801	T	0.23147	1.92	4.54	3.56	0.40772	.	0.323633	0.28712	N	0.014395	T	0.43919	0.1269	M	0.68317	2.08	0.32154	N	0.58386	D	0.89917	1.0	D	0.79108	0.992	T	0.53774	-0.8391	10	0.59425	D	0.04	-16.305	7.4753	0.27371	0.1649:0.7493:0.0:0.0858	.	406	Q7RTS5	OTOP3_HUMAN	M	406	ENSP00000328090:T406M	ENSP00000328090:T406M	T	+	2	0	OTOP3	70454762	0.281000	0.24258	0.978000	0.43139	0.696000	0.40369	0.869000	0.27996	0.891000	0.36235	0.462000	0.41574	ACG		0.607	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	0	NM_178233		17:72943167
SCN5A	6331	broad.mit.edu	37	3	38593036	38593036	+	Silent	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:38593036C>T	ENST00000333535.4	-	28	4976	c.4827G>A	c.(4825-4827)tcG>tcA	p.S1609S	SCN5A_ENST00000451551.2_Silent_p.S1555S|SCN5A_ENST00000449557.2_Silent_p.S1555S|SCN5A_ENST00000443581.1_Silent_p.S1608S|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000425664.1_Silent_p.S1591S|SCN5A_ENST00000450102.2_Silent_p.S1555S|SCN5A_ENST00000413689.1_Silent_p.S1609S|SCN5A_ENST00000423572.2_Silent_p.S1608S|SCN5A_ENST00000414099.2_Silent_p.S1591S|SCN5A_ENST00000455624.2_Silent_p.S1576S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1609			S -> W (in LQT3). {ECO:0000269|PubMed:16922724}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGATGATGTCCGAGAGCACAG	0.612																																						ENST00000413689.1		NA																	0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4825-4827)tcG>tcA		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						59.0	63.0	62.0					3																	38593036		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38593036C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4827G>A	3.37:g.38593036C>T		False	False		Somatic	0				SCN5A_ENST00000414099.2_Silent_p.S1591S|SCN5A_ENST00000451551.2_Silent_p.S1555S|SCN5A_ENST00000333535.4_Silent_p.S1609S|SCN5A_ENST00000423572.2_Silent_p.S1608S|SCN5A_ENST00000455624.2_Silent_p.S1576S|SCN5A_ENST00000443581.1_Silent_p.S1608S|SCN5A_ENST00000425664.1_Silent_p.S1591S|SCN5A_ENST00000450102.2_Silent_p.S1555S|SCN5A_ENST00000449557.2_Silent_p.S1555S	p.S1609S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina HiSeq	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5020	-	Medulloblastoma(35;0.163)		1609		S -> W (in LQT3).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.4827G>A	CCDS46796.1																																																																																				0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	NM_198056		3:38593036
GAB3	139716	broad.mit.edu	37	X	153927709	153927709	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:153927709C>A	ENST00000369575.3	-	6	1233	c.1202G>T	c.(1201-1203)gGt>gTt	p.G401V	GAB3_ENST00000424127.2_Missense_Mutation_p.G402V|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	401					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCAGAGGCACCAGCCTGGGG	0.547																																						ENST00000369575.3		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1201-1203)gGt>gTt		GRB2-associated binding protein 3							86.0	79.0	81.0					X																	153927709		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153927709C>A	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1202G>T	X.37:g.153927709C>A	ENSP00000358588:p.Gly401Val	False	False		Somatic	0				GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.G402V	p.G401V	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	WXS	Illumina HiSeq	Phase_I	Q8WWW8	GAB3_HUMAN			6	1233	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		401					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.1202G>T	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341281	0.24339	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.16073	2.37;2.37;2.37	5.85	-4.34	0.03666	.	1.256530	0.05135	N	0.493327	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35226	-0.9797	10	0.51188	T	0.08	-22.0678	6.7413	0.23437	0.3925:0.3004:0.3071:0.0	.	402;402;401	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	V	401;402;402	ENSP00000358588:G401V;ENSP00000358581:G402V;ENSP00000399588:G402V	ENSP00000358581:G402V	G	-	2	0	GAB3	153580903	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	0.182000	0.16900	-1.830000	0.01199	-1.178000	0.01721	GGT		0.547	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	0	NM_001081573		X:153927709
MTOR	2475	broad.mit.edu	37	1	11269497	11269497	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:11269497C>T	ENST00000361445.4	-	25	3749	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1225					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCCTCCTCTTCATCAGCAAGT	0.433																																						ENST00000361445.4		NA																	0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(3673-3675)Gaa>Aaa		mechanistic target of rapamycin (serine/threonine kinase)							231.0	222.0	225.0					1																	11269497		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11269497C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3673G>A	1.37:g.11269497C>T	ENSP00000354558:p.Glu1225Lys	False	False		Somatic	0					p.E1225K	NM_004958.3	NP_004949.1	WXS	Illumina HiSeq	Phase_I	P42345	MTOR_HUMAN			25	3749	-			1225					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.3673G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733505	0.48939	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.67523	-0.27	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.44542	1.39	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.72308	-0.4332	10	0.38643	T	0.18	-15.5656	20.3207	0.98668	0.0:1.0:0.0:0.0	.	1225	P42345	MTOR_HUMAN	K	1225	ENSP00000354558:E1225K	ENSP00000354558:E1225K	E	-	1	0	MTOR	11192084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.813000	0.96785	0.561000	0.74099	GAA		0.433	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	0	NM_004958		1:11269497
DPYSL5	56896	broad.mit.edu	37	2	27156166	27156166	+	Missense_Mutation	SNP	C	C	T	rs372829541		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:27156166C>T	ENST00000288699.6	+	7	913	c.755C>T	c.(754-756)tCg>tTg	p.S252L	DPYSL5_ENST00000401478.1_Missense_Mutation_p.S252L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	252					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S252L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGTATCTCGGCTGGTGAC	0.517																																						ENST00000288699.6		NA																	1	Substitution - Missense(1)	p.S252L(1)	lung(1)	breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(754-756)tCg>tTg		dihydropyrimidinase-like 5		C	LEU/SER	0,4406		0,0,2203	246.0	178.0	201.0		755	6.0	1.0	2		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	DPYSL5	NM_020134.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	252/565	27156166	1,13005	2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27156166C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.755C>T	2.37:g.27156166C>T	ENSP00000288699:p.Ser252Leu	False	False		Somatic	0				DPYSL5_ENST00000401478.1_Missense_Mutation_p.S252L	p.S252L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	WXS	Illumina HiSeq	Phase_I	Q9BPU6	DPYL5_HUMAN			7	913	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		252					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.755C>T	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303258	0.81136	0.0	1.16E-4	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.90385	-2.66;-2.66	6.04	6.04	0.98038	Amidohydrolase 1 (1);	0.110781	0.64402	D	0.000007	D	0.87212	0.6121	L	0.48174	1.505	0.46478	D	0.999068	P	0.40360	0.714	B	0.31390	0.129	D	0.87568	0.2476	10	0.54805	T	0.06	-9.1882	19.3507	0.94384	0.0:1.0:0.0:0.0	.	252	Q9BPU6	DPYL5_HUMAN	L	252	ENSP00000288699:S252L;ENSP00000385549:S252L	ENSP00000288699:S252L	S	+	2	0	DPYSL5	27009670	0.999000	0.42202	0.998000	0.56505	0.991000	0.79684	4.261000	0.58841	2.873000	0.98535	0.561000	0.74099	TCG		0.517	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	0	NM_020134		2:27156166
HCN4	10021	broad.mit.edu	37	15	73614835	73614835	+	Missense_Mutation	SNP	G	G	A	rs542636933	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:73614835G>A	ENST00000261917.3	-	8	4592	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1200					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TAGATTGGATGGCAGTTTGGA	0.542													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		12998	0.0		0.0	False		,,,				2504	0.0					ENST00000261917.3		NA																	0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(3598-3600)cCa>cTa		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							15.0	15.0	15.0					15																	73614835		2193	4286	6479	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73614835G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3599C>T	15.37:g.73614835G>A	ENSP00000261917:p.Pro1200Leu	False	False		Somatic	0					p.P1200L	NM_005477.2	NP_005468.1	WXS	Illumina HiSeq	Phase_I	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4592	-			1200					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.3599C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655637	0.47467	.	.	ENSG00000138622	ENST00000261917	D	0.99436	-5.9	3.52	2.57	0.30868	.	.	.	.	.	D	0.98520	0.9506	L	0.43152	1.355	0.58432	D	0.999999	D	0.60160	0.987	P	0.51516	0.672	D	0.97417	1.0006	9	0.87932	D	0	.	10.8488	0.46759	0.0:0.1926:0.8073:0.0	.	1200	Q9Y3Q4	HCN4_HUMAN	L	1200	ENSP00000261917:P1200L	ENSP00000261917:P1200L	P	-	2	0	HCN4	71401888	1.000000	0.71417	0.996000	0.52242	0.454000	0.32378	8.203000	0.89739	0.550000	0.28991	0.305000	0.20034	CCA		0.542	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	0	NM_005477		15:73614835
WNT7A	7476	broad.mit.edu	37	3	13860779	13860779	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:13860779C>T	ENST00000285018.4	-	4	1016	c.712G>A	c.(712-714)Gtg>Atg	p.V238M		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	238					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ACAGGCTCCACGTGAACGGCC	0.602																																						ENST00000285018.4		NA																	0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(712-714)Gtg>Atg		wingless-type MMTV integration site family, member 7A							111.0	105.0	107.0					3																	13860779		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860779C>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.712G>A	3.37:g.13860779C>T	ENSP00000285018:p.Val238Met	False	False		Somatic	0					p.V238M	NM_004625.3	NP_004616.2	WXS	Illumina HiSeq	Phase_I	O00755	WNT7A_HUMAN			4	1016	-			238					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.712G>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.255353	0.80135	.	.	ENSG00000154764	ENST00000285018	T	0.80994	-1.44	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.88775	0.6528	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.65010	0.931	D	0.88867	0.3330	10	0.37606	T	0.19	.	16.889	0.86082	0.0:1.0:0.0:0.0	.	238	O00755	WNT7A_HUMAN	M	238	ENSP00000285018:V238M	ENSP00000285018:V238M	V	-	1	0	WNT7A	13835780	1.000000	0.71417	0.986000	0.45419	0.963000	0.63663	7.812000	0.86109	2.048000	0.60808	0.558000	0.71614	GTG		0.602	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	0	NM_004625		3:13860779
FKBP5	2289	broad.mit.edu	37	6	35604901	35604901	+	Missense_Mutation	SNP	G	G	A	rs201013987		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:35604901G>A	ENST00000539068.1	-	3	342	c.140C>T	c.(139-141)cCg>cTg	p.P47L	FKBP5_ENST00000542713.1_Missense_Mutation_p.P47L|FKBP5_ENST00000536438.1_Missense_Mutation_p.P47L|FKBP5_ENST00000357266.4_Missense_Mutation_p.P47L|FKBP5_ENST00000540787.1_Intron	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	47	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCCAATCATCGGCGTTTCCTC	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		17360	0.001		0.0	False		,,,				2504	0.0					ENST00000542713.1		NA																	0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(139-141)cCg>cTg		FK506 binding protein 5		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	105.0	97.0	99.0		140,140,140,140	5.4	1.0	6		99	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	FKBP5	NM_001145775.1,NM_001145776.1,NM_001145777.1,NM_004117.3	98,98,98,98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	47/458,47/458,47/269,47/458	35604901	2,13004	2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35604901G>A	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.140C>T	6.37:g.35604901G>A	ENSP00000441205:p.Pro47Leu	False	False		Somatic	0				FKBP5_ENST00000539068.1_Missense_Mutation_p.P47L|FKBP5_ENST00000536438.1_Missense_Mutation_p.P47L|FKBP5_ENST00000357266.4_Missense_Mutation_p.P47L|FKBP5_ENST00000540787.1_Intron	p.P47L	NM_001145777.1	NP_001139249.1	WXS	Illumina HiSeq	Phase_I	Q13451	FKBP5_HUMAN			3	297	-			47			PPIase FKBP-type 1.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.140C>T	CCDS4808.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.0	4.879464	0.91740	0.0	2.33E-4	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.38	5.38	0.77491	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.88558	0.3121	10	0.87932	D	0	-13.9393	16.0837	0.81023	0.0:0.0:1.0:0.0	.	47;47	F5H7R1;Q13451	.;FKBP5_HUMAN	L	47;47;47;47;10;47;45	ENSP00000444810:P47L;ENSP00000349811:P47L;ENSP00000441205:P47L;ENSP00000442340:P47L	ENSP00000338160:P47L	P	-	2	0	FKBP5	35712879	1.000000	0.71417	0.989000	0.46669	0.953000	0.61014	8.309000	0.89969	2.515000	0.84797	0.655000	0.94253	CCG		0.338	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2	0			6:35604901
SRPX2	27286	broad.mit.edu	37	X	99924269	99924269	+	Missense_Mutation	SNP	C	C	T	rs370685595		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:99924269C>T	ENST00000373004.3	+	10	1548	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	374					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTGGATTTGCGGCATGTGAC	0.552																																						ENST00000373004.3		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1120-1122)Cgg>Tgg		sushi-repeat containing protein, X-linked 2		C	TRP/ARG	0,3835		0,0,1632,571	94.0	71.0	79.0		1120	3.5	1.0	X		79	1,6727		0,1,2427,1872	no	missense	SRPX2	NM_014467.2	101	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	374/466	99924269	1,10562	2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99924269C>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1120C>T	X.37:g.99924269C>T	ENSP00000362095:p.Arg374Trp	False	False		Somatic	0					p.R374W	NM_014467.2	NP_055282.1	WXS	Illumina HiSeq	Phase_I	O60687	SRPX2_HUMAN			10	1548	+			374					B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.1120C>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905934	0.72868	0.0	1.49E-4	ENSG00000102359	ENST00000373004	T	0.73897	-0.79	5.39	3.55	0.40652	.	0.106917	0.64402	D	0.000003	D	0.86024	0.5834	M	0.83223	2.63	0.51767	D	0.999933	D	0.89917	1.0	D	0.85130	0.997	D	0.85856	0.1407	9	.	.	.	-2.9549	13.6078	0.62058	0.299:0.701:0.0:0.0	.	374	O60687	SRPX2_HUMAN	W	374	ENSP00000362095:R374W	.	R	+	1	2	SRPX2	99810925	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	0.863000	0.27913	0.429000	0.26202	0.596000	0.82720	CGG		0.552	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	0	NM_014467		X:99924269
IGDCC4	57722	broad.mit.edu	37	15	65703590	65703590	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:65703590G>A	ENST00000352385.2	-	2	398	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	63	Ig-like C2-type 1.|Poly-Ala.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGGTCCAGCGGCAGCAGCCC	0.642																																						ENST00000352385.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(187-189)gcC>gcT		immunoglobulin superfamily, DCC subclass, member 4							45.0	40.0	41.0					15																	65703590		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65703590G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.189C>T	15.37:g.65703590G>A		False	False		Somatic	0					p.A63A	NM_020962.1	NP_066013.1	WXS	Illumina HiSeq	Phase_I	Q8TDY8	IGDC4_HUMAN			2	398	-			63			Ig-like C2-type 1.|Poly-Ala.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.189C>T	CCDS10206.1																																																																																				0.642	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	0	NM_020962		15:65703590
ZNF628	89887	broad.mit.edu	37	19	55993096	55993096	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:55993096G>C	ENST00000598519.1	+	3	1089	c.536G>C	c.(535-537)gGa>gCa	p.G179A	ZNF628_ENST00000391718.2_Missense_Mutation_p.G175A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	179					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TACACCTGTGGAGTCTGCGGG	0.711																																						ENST00000391718.2		NA																	0				endometrium(4)|kidney(1)|lung(2)	7						c.(523-525)gGa>gCa		zinc finger protein 628							23.0	23.0	23.0					19																	55993096		2201	4295	6496	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55993096G>C	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.536G>C	19.37:g.55993096G>C	ENSP00000469591:p.Gly179Ala	False	False		Somatic	0				ZNF628_ENST00000598519.1_Missense_Mutation_p.G179A	p.G175A	NM_033113.2	NP_149104.3	WXS	Illumina HiSeq	Phase_I	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1089	+	Breast(117;0.155)		175					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.524G>C	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	5.185	0.219611	0.09863	.	.	ENSG00000197483	ENST00000391718	T	0.07114	3.22	3.62	2.54	0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.308416	0.22071	U	0.065039	T	0.06096	0.0158	L	0.31157	0.91	0.09310	N	1	B	0.16603	0.018	B	0.16289	0.015	T	0.38779	-0.9645	10	0.20046	T	0.44	-4.2285	9.8863	0.41264	0.0:0.4083:0.5917:0.0	.	175	Q5EBL2	ZN628_HUMAN	A	175	ENSP00000375598:G175A	ENSP00000375598:G175A	G	+	2	0	ZNF628	60684908	0.003000	0.15002	0.064000	0.19789	0.009000	0.06853	1.406000	0.34646	0.845000	0.35118	0.484000	0.47621	GGA		0.711	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	0	XM_058964		19:55993096
SASH3	54440	broad.mit.edu	37	X	128927070	128927070	+	Silent	SNP	C	C	A	rs142835579		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:128927070C>A	ENST00000356892.3	+	7	1021	c.907C>A	c.(907-909)Cgg>Agg	p.R303R	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	303	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R303R(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCCACAGCACCGGGCCAAGCT	0.587																																						ENST00000356892.3		NA																	1	Substitution - coding silent(1)	p.R303R(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(907-909)Cgg>Agg		SAM and SH3 domain containing 3		C		3,3832		0,3,1629,571	83.0	69.0	74.0		907	2.8	1.0	X	dbSNP_134	74	0,6728		0,0,2428,1872	no	coding-synonymous	SASH3	NM_018990.3		0,3,4057,2443	AA,AC,CC,C		0.0,0.0782,0.0284		303/381	128927070	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	54440							g.chrX:128927070C>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.907C>A	X.37:g.128927070C>A		True	False		Somatic	0					p.R303R	NM_018990.3	NP_061863.1	WXS	Illumina HiSeq	Phase_I	O75995	SASH3_HUMAN			7	1021	+			303			SAM.		A6NCH1|A8K7K8|Q5JZ38	Silent	SNP	ENST00000356892.3	37	c.907C>A	CCDS14614.1																																																																																				0.587	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	0	NM_018990		X:128927070
KIF3C	3797	broad.mit.edu	37	2	26204102	26204102	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:26204102G>A	ENST00000264712.3	-	1	1264	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	KIF3C_ENST00000405914.1_Missense_Mutation_p.R229C	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	229	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGAGCCACGTTCGCTGCAC	0.627																																						ENST00000264712.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(685-687)Cgt>Tgt		kinesin family member 3C							59.0	58.0	59.0					2																	26204102		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204102G>A		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.685C>T	2.37:g.26204102G>A	ENSP00000264712:p.Arg229Cys	False	False		Somatic	0				KIF3C_ENST00000405914.1_Missense_Mutation_p.R229C	p.R229C	NM_002254.6	NP_002245	WXS	Illumina HiSeq	Phase_I	O14782	KIF3C_HUMAN			1	1264	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		229			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.685C>T	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	9.272	1.045812	0.19748	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.75821	-0.97;-0.97	5.67	2.82	0.32997	Kinesin, motor domain (4);	0.419809	0.26915	N	0.021842	T	0.62865	0.2463	M	0.69463	2.115	0.25228	N	0.98986	D;P	0.54964	0.969;0.919	B;B	0.35899	0.213;0.213	T	0.61792	-0.6990	10	0.56958	D	0.05	.	5.0533	0.14520	0.1584:0.0:0.5619:0.2797	.	229;229	B7ZM25;O14782	.;KIF3C_HUMAN	C	229;35;229	ENSP00000264712:R229C;ENSP00000385030:R229C	ENSP00000264712:R229C	R	-	1	0	KIF3C	26057606	0.032000	0.19561	0.708000	0.30435	0.901000	0.52897	0.305000	0.19254	0.761000	0.33130	0.655000	0.94253	CGT		0.627	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1	0			2:26204102
SALL3	27164	broad.mit.edu	37	18	76754689	76754689	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr18:76754689T>G	ENST00000537592.2	+	2	2698	c.2698T>G	c.(2698-2700)Tcg>Gcg	p.S900A	SALL3_ENST00000536229.3_Missense_Mutation_p.S767A|SALL3_ENST00000575389.2_Missense_Mutation_p.S900A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	900	Poly-Ser.				forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCCGAGTCCTCGTCCTCGCA	0.731																																						ENST00000536229.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2299-2301)Tcg>Gcg		spalt-like transcription factor 3							10.0	14.0	12.0					18																	76754689		2036	4027	6063	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754689T>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2698T>G	18.37:g.76754689T>G	ENSP00000441823:p.Ser900Ala	True	False		Somatic	0				SALL3_ENST00000537592.2_Missense_Mutation_p.S900A|SALL3_ENST00000575389.2_Missense_Mutation_p.S900A	p.S767A			WXS	Illumina HiSeq	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	3008	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	900					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2299T>G	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454670	0.26161	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08807	3.05	5.43	4.24	0.50183	.	0.000000	0.52532	D	0.000061	T	0.07279	0.0184	L	0.41824	1.3	0.53005	D	0.999964	B;P	0.41313	0.323;0.745	B;B	0.34931	0.19;0.192	T	0.36744	-0.9735	10	0.27785	T	0.31	-19.7823	12.4369	0.55604	0.0:0.0:0.1403:0.8597	.	632;900	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	900;900;632	ENSP00000441823:S900A	ENSP00000299466:S900A	S	+	1	0	SALL3	74855677	1.000000	0.71417	0.145000	0.22337	0.940000	0.58332	3.924000	0.56476	0.867000	0.35654	0.459000	0.35465	TCG		0.731	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	0	NM_171999		18:76754689
HCN4	10021	broad.mit.edu	37	15	73615826	73615826	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:73615826C>T	ENST00000261917.3	-	8	3601	c.2608G>A	c.(2608-2610)Gga>Aga	p.G870R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	870					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGCTCAGTCCAGCGGGGGCA	0.697																																						ENST00000261917.3		NA																	0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2608-2610)Gga>Aga		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							44.0	46.0	45.0					15																	73615826		2197	4294	6491	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615826C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2608G>A	15.37:g.73615826C>T	ENSP00000261917:p.Gly870Arg	False	False		Somatic	0					p.G870R	NM_005477.2	NP_005468.1	WXS	Illumina HiSeq	Phase_I	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3601	-			870					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2608G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197648	0.22037	.	.	ENSG00000138622	ENST00000261917	T	0.78003	-1.14	3.21	3.21	0.36854	.	.	.	.	.	T	0.78710	0.4326	L	0.36672	1.1	0.41256	D	0.986742	D	0.71674	0.998	D	0.64042	0.921	T	0.76293	-0.3012	9	0.35671	T	0.21	.	10.0634	0.42288	0.2012:0.7988:0.0:0.0	.	870	Q9Y3Q4	HCN4_HUMAN	R	870	ENSP00000261917:G870R	ENSP00000261917:G870R	G	-	1	0	HCN4	71402879	0.140000	0.22579	0.787000	0.31911	0.879000	0.50718	1.447000	0.35101	1.608000	0.50180	0.448000	0.29417	GGA		0.697	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	0	NM_005477		15:73615826
ATP4A	495	broad.mit.edu	37	19	36050774	36050774	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:36050774C>T	ENST00000262623.3	-	7	1017	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	330					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GACCATGGCCCGCAGGAAGGT	0.582																																						ENST00000262623.3		NA																	0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(988-990)cGg>cAg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						83.0	68.0	73.0					19																	36050774		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050774C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.989G>A	19.37:g.36050774C>T	ENSP00000262623:p.Arg330Gln	True	False		Somatic	0					p.R330Q	NM_000704.2	NP_000695.2	WXS	Illumina HiSeq	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	1017	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		330					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.989G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282969	0.59867	.	.	ENSG00000105675	ENST00000262623	D	0.88354	-2.37	3.83	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);	0.181592	0.34223	N	0.004155	T	0.79203	0.4406	N	0.10874	0.06	0.36501	D	0.869005	B	0.27264	0.173	B	0.29716	0.106	T	0.80504	-0.1353	10	0.40728	T	0.16	.	13.5911	0.61961	0.0:1.0:0.0:0.0	.	330	P20648	ATP4A_HUMAN	Q	330	ENSP00000262623:R330Q	ENSP00000262623:R330Q	R	-	2	0	ATP4A	40742614	0.048000	0.20356	1.000000	0.80357	0.997000	0.91878	2.051000	0.41307	2.146000	0.66826	0.561000	0.74099	CGG		0.582	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	0	NM_000704		19:36050774
SDPR	8436	broad.mit.edu	37	2	192711597	192711597	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:192711597G>A	ENST00000304141.4	-	1	384	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TTTTCCTGCCGCATGTCAGAC	0.607																																						ENST00000304141.4		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(55-57)Cgg>Tgg		serum deprivation response	Phosphatidylserine(DB00144)						64.0	64.0	64.0					2																	192711597		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711597G>A	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.55C>T	2.37:g.192711597G>A	ENSP00000305675:p.Arg19Trp	False	False		Somatic	0				AC098617.1_ENST00000424116.2_RNA	p.R19W	NM_004657.5	NP_004648.1	WXS	Illumina HiSeq	Phase_I	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	384	-			19						Missense_Mutation	SNP	ENST00000304141.4	37	c.55C>T	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	3.773	-0.047252	0.07407	.	.	ENSG00000168497	ENST00000304141	T	0.64618	-0.11	4.84	1.97	0.26223	.	1.325690	0.04910	N	0.453002	T	0.42426	0.1202	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.30621	-0.9972	10	0.44086	T	0.13	-0.3117	6.636	0.22883	0.0846:0.0:0.5985:0.317	.	19	O95810	SDPR_HUMAN	W	19	ENSP00000305675:R19W	ENSP00000305675:R19W	R	-	1	2	SDPR	192419842	0.008000	0.16893	0.127000	0.21898	0.208000	0.24298	1.612000	0.36889	0.304000	0.22809	0.555000	0.69702	CGG		0.607	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	0	NM_004657		2:192711597
DCAF8L2	347442	broad.mit.edu	37	X	27766141	27766141	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:27766141G>A	ENST00000451261.2	+	5	1528	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	377										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTGAATCCCGCCAATACCTA	0.408																																						ENST00000451261.2		NA																	0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1129-1131)Gcc>Acc		DDB1 and CUL4 associated factor 8-like 2							107.0	80.0	89.0					X																	27766141		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766141G>A		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1129G>A	X.37:g.27766141G>A	ENSP00000462745:p.Ala377Thr	True	False		Somatic	0					p.A377T	NM_001136533.1	NP_001130005.1	WXS	Illumina HiSeq	Phase_I					5	1528	+			NA					B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1129G>A	CCDS59162.1																																																																																				0.408	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	0	XM_293354		X:27766141
NEURL4	84461	broad.mit.edu	37	17	7225225	7225225	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7225225C>T	ENST00000399464.2	-	17	2845	c.2830G>A	c.(2830-2832)Gtc>Atc	p.V944I	NEURL4_ENST00000570460.1_Missense_Mutation_p.V920I|NEURL4_ENST00000315614.7_Missense_Mutation_p.V942I|RP11-542C16.2_ENST00000575474.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	944	NHR 5. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTACTGAAGACAAGGCCATGA	0.587																																						ENST00000399464.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2830-2832)Gtc>Atc		neuralized E3 ubiquitin protein ligase 4							100.0	101.0	101.0					17																	7225225		2134	4228	6362	SO:0001583	missense	84461							g.chr17:7225225C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2830G>A	17.37:g.7225225C>T	ENSP00000382390:p.Val944Ile	False	False		Somatic	0				NEURL4_ENST00000315614.7_Missense_Mutation_p.V942I|NEURL4_ENST00000570460.1_Missense_Mutation_p.V920I	p.V944I	NM_032442.2	NP_115818.2	WXS	Illumina HiSeq	Phase_I					17	2845	-			NA					Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.2830G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070973	0.93950	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.41065	1.02;1.01	5.87	5.87	0.94306	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	M	0.76002	2.32	0.50039	D	0.999849	D;D	0.63046	0.99;0.992	D;D	0.77004	0.98;0.989	T	0.64820	-0.6317	10	0.49607	T	0.09	-27.2431	17.7017	0.88296	0.0:1.0:0.0:0.0	.	942;944	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	I	942;944	ENSP00000319826:V942I;ENSP00000382390:V944I	ENSP00000319826:V942I	V	-	1	0	NEURL4	7165949	0.999000	0.42202	0.975000	0.42487	0.983000	0.72400	4.024000	0.57218	2.781000	0.95711	0.655000	0.94253	GTC		0.587	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	0	NM_032442		17:7225225
PCLO	27445	broad.mit.edu	37	7	82544266	82544266	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:82544266G>T	ENST00000333891.9	-	7	13373	c.13036C>A	c.(13036-13038)Caa>Aaa	p.Q4346K	PCLO_ENST00000423517.2_Missense_Mutation_p.Q4346K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q1066K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTCTACTTTGACTAATTGGC	0.488																																						ENST00000333891.9		NA																	0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13036-13038)Caa>Aaa		piccolo presynaptic cytomatrix protein							97.0	95.0	96.0					7																	82544266		1882	4118	6000	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544266G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13036C>A	7.37:g.82544266G>T	ENSP00000334319:p.Gln4346Lys	True	False		Somatic	0				PCLO_ENST00000423517.2_Missense_Mutation_p.Q4346K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q1066K	p.Q4346K	NM_033026.5	NP_149015.2	WXS	Illumina HiSeq	Phase_I	Q9Y6V0	PCLO_HUMAN			7	13373	-			NA						Missense_Mutation	SNP	ENST00000333891.9	37	c.13036C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459440	0.63401	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18338	2.22;2.22	5.61	5.61	0.85477	.	.	.	.	.	T	0.43700	0.1259	M	0.68593	2.085	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.81914	0.98;0.995;0.995	T	0.27806	-1.0063	9	0.87932	D	0	.	19.6481	0.95790	0.0:0.0:1.0:0.0	.	4277;4346;4346	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	4346;4346;1066	ENSP00000334319:Q4346K;ENSP00000388393:Q4346K	ENSP00000334319:Q4346K	Q	-	1	0	PCLO	82382202	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.869000	0.99810	2.651000	0.90000	0.557000	0.71058	CAA		0.488	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	0	NM_014510		7:82544266
DLL4	54567	broad.mit.edu	37	15	41224371	41224371	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:41224371A>T	ENST00000249749.5	+	5	937	c.661A>T	c.(661-663)Atc>Ttc	p.I221F		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	221	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCCCTTAGCTATCTGTCTTTC	0.577																																						ENST00000249749.5		NA																	0				breast(3)|large_intestine(1)	4						c.(661-663)Atc>Ttc		delta-like 4 (Drosophila)							78.0	82.0	80.0					15																	41224371		2001	4179	6180	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41224371A>T	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.661A>T	15.37:g.41224371A>T	ENSP00000249749:p.Ile221Phe	False	False		Somatic	0					p.I221F	NM_019074.3	NP_061947.1	WXS	Illumina HiSeq	Phase_I	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	5	937	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	221			EGF-like 1.		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.661A>T	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252334	0.59212	.	.	ENSG00000128917	ENST00000249749	T	0.66815	-0.23	5.74	-1.63	0.08345	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.186750	0.56097	D	0.000028	T	0.65749	0.2721	M	0.86953	2.85	0.36665	D	0.878153	B	0.30179	0.271	B	0.24701	0.055	T	0.67902	-0.5550	10	0.87932	D	0	.	12.0444	0.53471	0.758:0.0:0.242:0.0	.	221	Q9NR61	DLL4_HUMAN	F	221	ENSP00000249749:I221F	ENSP00000249749:I221F	I	+	1	0	DLL4	39011663	0.835000	0.29415	0.968000	0.41197	0.989000	0.77384	0.957000	0.29215	-0.286000	0.09076	0.533000	0.62120	ATC		0.577	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1	0			15:41224371
OBSL1	23363	broad.mit.edu	37	2	220428119	220428119	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:220428119C>T	ENST00000404537.1	-	7	2694	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	OBSL1_ENST00000289656.3_Missense_Mutation_p.V467I|OBSL1_ENST00000373876.1_Missense_Mutation_p.V880I|OBSL1_ENST00000265318.4_Missense_Mutation_p.V880I|OBSL1_ENST00000603926.1_Missense_Mutation_p.V880I|OBSL1_ENST00000373873.4_Missense_Mutation_p.V880I	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	880	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCTCCAGCGACGCACTGAAAC	0.662																																						ENST00000404537.1		NA																	0					NA						c.(2638-2640)Gtc>Atc		obscurin-like 1							34.0	40.0	38.0					2																	220428119		2077	4196	6273	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220428119C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2638G>A	2.37:g.220428119C>T	ENSP00000385636:p.Val880Ile	False	False		Somatic	0				OBSL1_ENST00000373873.4_Missense_Mutation_p.V880I|OBSL1_ENST00000373876.1_Missense_Mutation_p.V880I|OBSL1_ENST00000289656.3_Missense_Mutation_p.V467I|OBSL1_ENST00000603926.1_Missense_Mutation_p.V880I|OBSL1_ENST00000265318.4_Missense_Mutation_p.V880I	p.V880I	NM_015311.2	NP_056126.1	WXS	Illumina HiSeq	Phase_I	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	7	2694	-		Renal(207;0.0376)	880			Ig-like 6.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.2638G>A	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186517	0.38609	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	4.69	3.72	0.42706	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76593	0.4009	L	0.58810	1.83	0.09310	N	1	D;D;D;D	0.76494	0.998;0.999;0.989;0.991	D;D;P;P	0.68943	0.934;0.961;0.475;0.688	T	0.64871	-0.6305	9	0.34782	T	0.22	.	13.3942	0.60840	0.0:0.9118:0.0:0.0881	.	881;880;467;880	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	I	880;880;880;880;467	ENSP00000265318:V880I;ENSP00000385636:V880I;ENSP00000362983:V880I;ENSP00000362980:V880I;ENSP00000289656:V467I	ENSP00000265318:V880I	V	-	1	0	OBSL1	220136363	0.002000	0.14202	0.472000	0.27241	0.415000	0.31203	1.292000	0.33342	2.433000	0.82419	0.561000	0.74099	GTC		0.662	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	0			2:220428119
DNASE1L1	1774	broad.mit.edu	37	X	153631476	153631476	+	Missense_Mutation	SNP	C	C	T	rs199865662		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:153631476C>T	ENST00000393638.1	-	7	867	c.581G>A	c.(580-582)cGc>cAc	p.R194H	SNORA70_ENST00000384436.1_RNA|DNASE1L1_ENST00000369809.1_Missense_Mutation_p.R194H	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	194					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGTCCAGGCGCTTTTTGGT	0.612																																						ENST00000369809.1		NA																	0				lung(6)	6						c.(580-582)cGc>cAc		deoxyribonuclease I-like 1							62.0	60.0	60.0					X																	153631476		2203	4300	6503	SO:0001583	missense	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153631476C>T	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.581G>A	X.37:g.153631476C>T	ENSP00000377255:p.Arg194His	False	False		Somatic	0				DNASE1L1_ENST00000393638.1_Missense_Mutation_p.R194H	p.R194H	NM_001009932.1	NP_001009932.1	WXS	Illumina HiSeq	Phase_I	P49184	DNSL1_HUMAN			9	1210	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		194					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.581G>A	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278287	0.23307	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000451865	T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;1.41	5.11	3.35	0.38373	Endonuclease/exonuclease/phosphatase (2);	0.664814	0.16178	N	0.225967	T	0.65344	0.2682	L	0.27053	0.805	0.26742	N	0.970362	B	0.32160	0.358	B	0.30105	0.111	T	0.52419	-0.8578	10	0.27785	T	0.31	-14.5753	6.7231	0.23340	0.0:0.698:0.0:0.302	.	194	P49184	DNSL1_HUMAN	H	194	ENSP00000358824:R194H;ENSP00000377255:R194H;ENSP00000014935:R194H;ENSP00000358823:R194H;ENSP00000358822:R194H;ENSP00000309168:R194H;ENSP00000393346:R194H	ENSP00000014935:R194H	R	-	2	0	DNASE1L1	153284670	1.000000	0.71417	0.726000	0.30738	0.133000	0.20885	1.655000	0.37345	0.398000	0.25338	0.597000	0.82753	CGC		0.612	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2	0			X:153631476
NUPL2	11097	broad.mit.edu	37	7	23221735	23221735	+	Missense_Mutation	SNP	C	C	G	rs370296256		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:23221735C>G	ENST00000258742.5	+	1	290	c.31C>G	c.(31-33)Cgg>Ggg	p.R11G	NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Missense_Mutation_p.R11G|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	11					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTCAAGGCCGGTGCCGCTT	0.612																																						ENST00000258742.5		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(31-33)Cgg>Ggg		nucleoporin like 2							83.0	68.0	73.0					7																	23221735		2203	4300	6503	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23221735C>G	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.31C>G	7.37:g.23221735C>G	ENSP00000258742:p.Arg11Gly	False	False		Somatic	0				NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Missense_Mutation_p.R11G	p.R11G	NM_007342.2	NP_031368.1	WXS	Illumina HiSeq	Phase_I	O15504	NUPL2_HUMAN			1	290	+			11					A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.31C>G	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173319	0.57584	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.47528	0.84;0.84;0.84	5.14	3.29	0.37713	Zinc finger, CCCH-type (1);	0.129374	0.51477	D	0.000094	T	0.59770	0.2218	M	0.67700	2.07	0.45676	D	0.99859	D	0.76494	0.999	D	0.68943	0.961	T	0.57871	-0.7736	10	0.48119	T	0.1	-13.7234	6.8112	0.23805	0.2509:0.6099:0.0:0.1392	.	11	O15504	NUPL2_HUMAN	G	11	ENSP00000258742:R11G;ENSP00000387330:R11G;ENSP00000401475:R11G	ENSP00000258742:R11G	R	+	1	2	NUPL2	23188260	1.000000	0.71417	0.871000	0.34182	0.994000	0.84299	1.853000	0.39358	0.825000	0.34637	0.655000	0.94253	CGG		0.612	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	0	NM_007342		7:23221735
SALL3	27164	broad.mit.edu	37	18	76754690	76754690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr18:76754690C>A	ENST00000537592.2	+	2	2699	c.2699C>A	c.(2698-2700)tCg>tAg	p.S900*	SALL3_ENST00000536229.3_Nonsense_Mutation_p.S767*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.S900*	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	900	Poly-Ser.				forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCGAGTCCTCGTCCTCGCAG	0.731																																						ENST00000536229.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2299-2301)tCg>tAg		spalt-like transcription factor 3							10.0	13.0	12.0					18																	76754690		2032	4027	6059	SO:0001587	stop_gained	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754690C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2699C>A	18.37:g.76754690C>A	ENSP00000441823:p.Ser900*	True	False		Somatic	0				SALL3_ENST00000537592.2_Nonsense_Mutation_p.S900*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.S900*	p.S767*			WXS	Illumina HiSeq	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	3009	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	900					Q9UGH1	Nonsense_Mutation	SNP	ENST00000537592.2	37	c.2300C>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	47	13.299157	0.99733	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	.	.	.	5.43	4.54	0.55810	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-19.7823	15.3889	0.74726	0.1403:0.8597:0.0:0.0	.	.	.	.	X	900;900;632	.	ENSP00000299466:S900X	S	+	2	0	SALL3	74855678	1.000000	0.71417	0.146000	0.22360	0.920000	0.55202	4.704000	0.61831	1.251000	0.43983	0.561000	0.74099	TCG		0.731	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	0	NM_171999		18:76754690
FAM86C2P	645332	broad.mit.edu	37	11	67560590	67560590	+	RNA	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:67560590C>T	ENST00000528089.1	-	0	1160							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		AAGTTTTATCCGCTTTCCCAT	0.413																																						ENST00000528089.1		NA																	0					NA																																														0							g.chr11:67560590C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560590C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1160	-			NA						RNA	SNP	ENST00000528089.1	37																																																																																						0.413	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1	0			11:67560590
FTCD	10841	broad.mit.edu	37	21	47556871	47556871	+	3'UTR	SNP	C	C	T	rs554918083		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr21:47556871C>T	ENST00000397746.3	-	0	1699				FTCD_ENST00000355384.2_Intron|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000498355.2_Intron|FTCD_ENST00000291670.5_Intron|FTCD_ENST00000397748.1_Missense_Mutation_p.A546T|FTCD_ENST00000359679.2_Missense_Mutation_p.A546T	NM_206965.1	NP_996848.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase						cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GAGGGAGGGGCCACAGAGCCC	0.697																																						ENST00000397748.1		NA																	0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(1636-1638)Gcc>Acc		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						33.0	34.0	34.0					21																	47556871		2202	4300	6502	SO:0001624	3_prime_UTR_variant	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47556871C>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000397746.3:c.*30G>A	21.37:g.47556871C>T		True	False		Somatic	0				FTCD_ENST00000291670.5_Intron|FTCD_ENST00000397746.3_3'UTR|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000498355.2_Intron|FTCD_ENST00000359679.2_Missense_Mutation_p.A546T|FTCD_ENST00000355384.2_Intron	p.A546T			WXS	Illumina HiSeq	Phase_I	O95954	FTCD_HUMAN		Colorectal(79;0.235)	14	1679	-	Breast(49;0.214)		53					B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000397746.3	37	c.1636G>A	CCDS13731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.586703|1.586703	0.28268|0.28268	.|.	.|.	ENSG00000160282|ENSG00000160282	ENST00000397748;ENST00000359679|ENST00000446405	T;T|.	0.73575|.	-0.76;-0.76|.	3.13|3.13	-0.626|-0.626	0.11544|0.11544	.|.	.|.	.|.	.|.	.|.	T|.	0.21387|.	0.0515|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.09022|.	0.002|.	B|.	0.12156|.	0.007|.	T|.	0.25257|.	-1.0137|.	8|.	0.87932|.	D|.	0|.	.|.	3.0486|3.0486	0.06161|0.06161	0.2072:0.4868:0.0:0.3061|0.2072:0.4868:0.0:0.3061	.|.	546|.	O95954-2|.	.|.	T|X	546|86	ENSP00000380856:A546T;ENSP00000352707:A546T|.	ENSP00000352707:A546T|.	A|W	-|-	1|3	0|0	FTCD|FTCD	46381299|46381299	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.035000|0.035000	0.12851|0.12851	-1.894000|-1.894000	0.01607|0.01607	-0.013000|-0.013000	0.14199|0.14199	0.455000|0.455000	0.32223|0.32223	GCC|TGG		0.697	FTCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206959.1	0	NM_006657		21:47556871
RPA2	6118	broad.mit.edu	37	1	28240605	28240605	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:28240605G>A	ENST00000373912.3	-	2	385	c.86C>T	c.(85-87)tCg>tTg	p.S29L	RPA2_ENST00000313433.7_Missense_Mutation_p.S117L|RPA2_ENST00000373909.3_Missense_Mutation_p.S37L	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	29	Gly/Ser-rich.				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCGGGCGATCCAAAGCC	0.502								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3		NA																	0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(85-87)tCg>tTg	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							57.0	66.0	63.0					1																	28240605		2203	4300	6503	SO:0001583	missense	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28240605G>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.86C>T	1.37:g.28240605G>A	ENSP00000363021:p.Ser29Leu	False	False		Somatic	0				RPA2_ENST00000313433.7_Missense_Mutation_p.S117L|RPA2_ENST00000373909.3_Missense_Mutation_p.S37L	p.S29L	NM_002946.3	NP_002937.1	WXS	Illumina HiSeq	Phase_I	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	2	385	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	29			Gly/Ser-rich.		Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	c.86C>T	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057680	0.76074	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.26810	2.03;2.02;1.99;1.71	4.59	3.67	0.42095	.	0.184267	0.49305	D	0.000144	T	0.16896	0.0406	L	0.33485	1.01	0.40306	D	0.978667	P;B	0.39748	0.686;0.428	B;B	0.31290	0.127;0.087	T	0.04976	-1.0914	10	0.42905	T	0.14	-2.2818	12.0254	0.53367	0.0875:0.0:0.9124:0.0	.	29;37	P15927;P15927-2	RFA2_HUMAN;.	L	29;37;117;33	ENSP00000363021:S29L;ENSP00000363017:S37L;ENSP00000363015:S117L;ENSP00000387649:S33L	ENSP00000363015:S117L	S	-	2	0	RPA2	28113192	1.000000	0.71417	0.789000	0.31954	0.788000	0.44548	5.916000	0.69981	1.050000	0.40346	0.555000	0.69702	TCG		0.502	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	0	NM_002946		1:28240605
GNAO1	2775	broad.mit.edu	37	16	56362667	56362667	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:56362667G>A	ENST00000262493.6	+	4	1274	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	GNAO1_ENST00000262494.7_Missense_Mutation_p.R143Q	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	143					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGCTTCAACCGGTCCCGGGAG	0.607																																						ENST00000262494.7		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(427-429)cGg>cAg		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							78.0	74.0	75.0					16																	56362667		2198	4300	6498	SO:0001583	missense	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56362667G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.428G>A	16.37:g.56362667G>A	ENSP00000262493:p.Arg143Gln	False	False		Somatic	0				GNAO1_ENST00000262493.6_Missense_Mutation_p.R143Q	p.R143Q	NM_138736.2	NP_620073.2	WXS	Illumina HiSeq	Phase_I	P09471	GNAO_HUMAN			4	688	+		all_neural(199;0.159)	143					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.428G>A	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486569	0.96323	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.90133	-2.62;-2.62	4.95	4.95	0.65309	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.96182	0.8755	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.96	D	0.97114	0.9806	10	0.87932	D	0	.	18.1807	0.89777	0.0:0.0:1.0:0.0	.	143;143	P09471;P09471-2	GNAO_HUMAN;.	Q	143	ENSP00000262493:R143Q;ENSP00000262494:R143Q	ENSP00000262493:R143Q	R	+	2	0	GNAO1	54920168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.276000	0.75962	0.462000	0.41574	CGG		0.607	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	0	NM_020988		16:56362667
HMGXB4	10042	broad.mit.edu	37	22	35689619	35689619	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:35689619T>C	ENST00000216106.5	+	11	1909	c.1781T>C	c.(1780-1782)aTt>aCt	p.I594T	HMGXB4_ENST00000444518.2_Missense_Mutation_p.I485T	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	594					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTAGACAACATTGCTTACATC	0.408																																						ENST00000216106.5		NA																	0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1780-1782)aTt>aCt		HMG box domain containing 4							196.0	171.0	179.0					22																	35689619		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35689619T>C	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1781T>C	22.37:g.35689619T>C	ENSP00000216106:p.Ile594Thr	False	False		Somatic	0				HMGXB4_ENST00000444518.2_Missense_Mutation_p.I485T	p.I594T	NM_001003681.2	NP_001003681.1	WXS	Illumina HiSeq	Phase_I	Q9UGU5	HMGX4_HUMAN			11	1909	+			594					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.1781T>C	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756822	0.89843	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.34072	1.38;1.42	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62651	-0.6809	10	0.87932	D	0	-3.1144	16.4622	0.84064	0.0:0.0:0.0:1.0	.	594	Q9UGU5	HMGX4_HUMAN	T	485;594	ENSP00000398302:I485T;ENSP00000216106:I594T	ENSP00000216106:I594T	I	+	2	0	HMGXB4	34019619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.008000	0.88588	2.289000	0.77006	0.533000	0.62120	ATT		0.408	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	0	NM_005487		22:35689619
CDHR1	92211	broad.mit.edu	37	10	85974118	85974118	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:85974118C>T	ENST00000372117.3	+	17	2424	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	CDHR1_ENST00000440770.2_Missense_Mutation_p.P478L|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	774	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GAGAAACCTCCCAATGAGAAC	0.617																																						ENST00000372117.3		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2320-2322)cCc>cTc		cadherin-related family member 1							86.0	79.0	81.0					10																	85974118		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974118C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2321C>T	10.37:g.85974118C>T	ENSP00000361189:p.Pro774Leu	True	False		Somatic	0				CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.P478L	p.P774L	NM_033100.2	NP_149091.1	WXS	Illumina HiSeq	Phase_I	Q96JP9	CDHR1_HUMAN			17	2424	+			774			Pro-rich.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2321C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817901	0.32145	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.55930	0.64;0.49	5.44	4.54	0.55810	.	1.112700	0.06432	N	0.724327	T	0.47525	0.1450	L	0.57536	1.79	0.34497	D	0.705606	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.47971	-0.9075	10	0.21540	T	0.41	-26.0702	5.1749	0.15129	0.1663:0.6647:0.0:0.169	.	478;774	E7EN47;Q96JP9	.;CDHR1_HUMAN	L	774;478	ENSP00000361189:P774L;ENSP00000415980:P478L	ENSP00000361189:P774L	P	+	2	0	CDHR1	85964098	0.576000	0.26700	0.971000	0.41717	0.773000	0.43773	2.688000	0.46984	1.308000	0.44962	0.561000	0.74099	CCC		0.617	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	0	NM_033100		10:85974118
OTX2	5015	broad.mit.edu	37	14	57268475	57268475	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:57268475G>A	ENST00000555006.1	-	4	1256	c.848C>T	c.(847-849)tCg>tTg	p.S283L	RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Missense_Mutation_p.S283L|OTX2_ENST00000339475.5_Missense_Mutation_p.S291L			P32243	OTX2_HUMAN	orthodenticle homeobox 2	283					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAATTTCCACGAGGATGTCTG	0.408																																						ENST00000339475.5		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(871-873)tCg>tTg		orthodenticle homeobox 2							60.0	64.0	63.0					14																	57268475		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268475G>A	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.848C>T	14.37:g.57268475G>A	ENSP00000452336:p.Ser283Leu	False	False		Somatic	0				OTX2_ENST00000555006.1_Missense_Mutation_p.S283L|OTX2_ENST00000408990.3_Missense_Mutation_p.S283L	p.S291L	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	WXS	Illumina HiSeq	Phase_I	P32243	OTX2_HUMAN			5	1148	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		283					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.872C>T	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296371	0.40594	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006	D;D;D	0.93712	-3.27;-3.26;-3.26	5.65	3.84	0.44239	.	0.605732	0.13764	N	0.364391	D	0.92506	0.7620	M	0.84219	2.685	0.80722	D	1	P;P	0.51537	0.946;0.838	B;B	0.39258	0.295;0.283	D	0.91171	0.4968	10	0.72032	D	0.01	.	11.382	0.49763	0.1438:0.0:0.8562:0.0	.	291;283	F1T0D1;P32243	.;OTX2_HUMAN	L	291;283;283	ENSP00000343819:S291L;ENSP00000386185:S283L;ENSP00000452336:S283L	ENSP00000343819:S291L	S	-	2	0	OTX2	56338228	1.000000	0.71417	0.762000	0.31397	0.989000	0.77384	9.501000	0.97979	0.949000	0.37715	0.655000	0.94253	TCG		0.408	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	0	NM_021728.		14:57268475
RYR3	6263	broad.mit.edu	37	15	34102719	34102719	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:34102719C>T	ENST00000389232.4	+	71	10136	c.10066C>T	c.(10066-10068)Cgg>Tgg	p.R3356W	RYR3_ENST00000415757.3_Missense_Mutation_p.R3351W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3356					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACAAAGCGGCGGGGAGACTT	0.512																																						ENST00000389232.4		NA																	0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10066-10068)Cgg>Tgg		ryanodine receptor 3							68.0	92.0	84.0					15																	34102719		1923	4118	6041	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34102719C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10066C>T	15.37:g.34102719C>T	ENSP00000373884:p.Arg3356Trp	True	False		Somatic	0				RYR3_ENST00000415757.3_Missense_Mutation_p.R3351W	p.R3356W	NM_001036.3	NP_001027.3	WXS	Illumina HiSeq	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	71	10136	+		all_lung(180;7.18e-09)	3356					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10066C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458025	0.63401	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.68025	-0.3	5.15	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	M	0.83603	2.65	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.982	T	0.82230	-0.0560	10	0.87932	D	0	.	12.2165	0.54410	0.5396:0.4604:0.0:0.0	.	3351;3356	Q15413-2;Q15413	.;RYR3_HUMAN	W	3356;3356;3351	ENSP00000373884:R3356W	ENSP00000354735:R3351W	R	+	1	2	RYR3	31890011	0.946000	0.32159	1.000000	0.80357	0.726000	0.41606	2.244000	0.43124	0.419000	0.25927	-0.397000	0.06425	CGG		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	0			15:34102719
POU5F2	134187	broad.mit.edu	37	5	93077092	93077092	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:93077092C>T	ENST00000510627.4	-	1	251	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	60					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		ATCCTCCACACGTCAGGGCCT	0.672																																						ENST00000510627.4		NA																	0					NA						c.(178-180)Gtg>Atg		POU domain class 5, transcription factor 2							17.0	20.0	19.0					5																	93077092		1926	4128	6054	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93077092C>T		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.178G>A	5.37:g.93077092C>T	ENSP00000464890:p.Val60Met	False	False		Somatic	0				FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron	p.V60M	NM_153216.1	NP_694948.1	WXS	Illumina HiSeq	Phase_I	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	251	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	60					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.178G>A	CCDS59489.1																																																																																				0.672	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	0	NM_153216		5:93077092
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	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_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_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
NRROS	375387	broad.mit.edu	37	3	196386854	196386854	+	Missense_Mutation	SNP	G	G	A	rs551574884		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:196386854G>A	ENST00000328557.4	+	3	543	c.340G>A	c.(340-342)Gac>Aac	p.D114N		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	114					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGTCCTGGGGGACAACTGCCT	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16746	0.0		0.0	False		,,,				2504	0.0					ENST00000328557.4		NA																	0					NA						c.(340-342)Gac>Aac		negative regulator of reactive oxygen species							32.0	33.0	33.0					3																	196386854		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196386854G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.340G>A	3.37:g.196386854G>A	ENSP00000328625:p.Asp114Asn	True	False		Somatic	0					p.D114N	NM_198565.1	NP_940967.1	WXS	Illumina HiSeq	Phase_I					3	543	+			NA						Missense_Mutation	SNP	ENST00000328557.4	37	c.340G>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	0.645	-0.811780	0.02798	.	.	ENSG00000174004	ENST00000328557	T	0.00882	5.58	6.07	5.02	0.67125	.	0.146322	0.64402	D	0.000011	T	0.00845	0.0028	N	0.20574	0.59	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.66995	-0.5782	10	0.19590	T	0.45	.	10.8167	0.46580	0.1893:0.0:0.8107:0.0	.	114	Q86YC3	LRC33_HUMAN	N	114	ENSP00000328625:D114N	ENSP00000328625:D114N	D	+	1	0	LRRC33	197871251	0.998000	0.40836	1.000000	0.80357	0.048000	0.14542	3.061000	0.49963	2.884000	0.98904	0.655000	0.94253	GAC		0.677	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	0	NM_198565		3:196386854
CTSK	1513	broad.mit.edu	37	1	150776542	150776542	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:150776542C>G	ENST00000271651.3	-	5	683	c.573G>C	c.(571-573)aaG>aaC	p.K191N	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	191					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACCCCGGTTCTTCTGCACAT	0.493																																						ENST00000271651.3		NA																	0				cervix(1)|endometrium(1)|lung(4)|skin(1)	7						c.(571-573)aaG>aaC		cathepsin K							183.0	165.0	171.0					1																	150776542		2203	4300	6503	SO:0001583	missense	1513				proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	g.chr1:150776542C>G	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.573G>C	1.37:g.150776542C>G	ENSP00000271651:p.Lys191Asn	False	False		Somatic	0				CTSK_ENST00000480670.1_5'UTR	p.K191N	NM_000396.3	NP_000387.1	WXS	Illumina HiSeq	Phase_I	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	683	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		191					Q6FHS6	Missense_Mutation	SNP	ENST00000271651.3	37	c.573G>C	CCDS969.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337959	0.41398	.	.	ENSG00000143387	ENST00000271651;ENST00000443913	D;D	0.97710	-4.5;-4.5	5.57	1.37	0.22104	Peptidase C1A, papain C-terminal (2);	0.660593	0.16298	N	0.220576	D	0.89959	0.6866	L	0.39147	1.195	0.33900	D	0.638336	B	0.02656	0.0	B	0.06405	0.002	T	0.81263	-0.1012	10	0.44086	T	0.13	.	4.733	0.12974	0.0:0.4528:0.3003:0.2469	.	191	P43235	CATK_HUMAN	N	191;250	ENSP00000271651:K191N;ENSP00000405083:K250N	ENSP00000271651:K191N	K	-	3	2	CTSK	149043166	0.000000	0.05858	0.992000	0.48379	0.967000	0.64934	-0.585000	0.05794	0.303000	0.22785	-0.251000	0.11542	AAG		0.493	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	0	NM_000396		1:150776542
TPO	7173	broad.mit.edu	37	2	1426892	1426892	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:1426892C>T	ENST00000345913.4	+	3	261	c.170C>T	c.(169-171)aCg>aTg	p.T57M	TPO_ENST00000346956.3_Missense_Mutation_p.T57M|TPO_ENST00000382198.1_Missense_Mutation_p.T57M|TPO_ENST00000539820.1_Missense_Mutation_p.T57M|TPO_ENST00000337415.3_Missense_Mutation_p.T57M|TPO_ENST00000329066.4_Missense_Mutation_p.T57M|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.T57M|TPO_ENST00000382201.3_Missense_Mutation_p.T57M|TPO_ENST00000349624.3_Missense_Mutation_p.T57M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	57					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATGTACGCCACGATGCAGAGG	0.592																																						ENST00000345913.4		NA																	0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(169-171)aCg>aTg		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						77.0	66.0	69.0					2																	1426892		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1426892C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.170C>T	2.37:g.1426892C>T	ENSP00000318820:p.Thr57Met	False	False		Somatic	0				TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.T57M|TPO_ENST00000337415.3_Missense_Mutation_p.T57M|TPO_ENST00000349624.3_Missense_Mutation_p.T57M|TPO_ENST00000539820.1_Missense_Mutation_p.T57M|TPO_ENST00000346956.3_Missense_Mutation_p.T57M|TPO_ENST00000329066.4_Missense_Mutation_p.T57M|TPO_ENST00000382201.3_Missense_Mutation_p.T57M|TPO_ENST00000382269.3_Missense_Mutation_p.T57M	p.T57M	NM_000547.5	NP_000538.3	WXS	Illumina HiSeq	Phase_I	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	3	261	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	57					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.170C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977929	0.53720	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	3.72	3.72	0.42706	.	0.376195	0.25383	N	0.031063	T	0.71837	0.3387	M	0.78801	2.425	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.997	P;P;D;P;P	0.63703	0.862;0.796;0.917;0.862;0.714	T	0.63391	-0.6648	10	0.87932	D	0	-20.6374	11.2868	0.49226	0.0:1.0:0.0:0.0	.	57;57;57;57;57	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	M	57	ENSP00000371704:T57M;ENSP00000337263:T57M;ENSP00000318820:T57M;ENSP00000263886:T57M;ENSP00000332044:T57M;ENSP00000444840:T57M;ENSP00000329869:T57M;ENSP00000371636:T57M;ENSP00000390994:T57M;ENSP00000371633:T57M	ENSP00000329869:T57M	T	+	2	0	TPO	1405899	0.020000	0.18652	0.004000	0.12327	0.026000	0.11368	1.587000	0.36622	2.347000	0.79759	0.467000	0.42956	ACG		0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	NM_000547		2:1426892
RSC1A1	6248	broad.mit.edu	37	1	15987039	15987039	+	Missense_Mutation	SNP	G	G	A	rs370483687		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:15987039G>A	ENST00000345034.1	+	1	676	c.676G>A	c.(676-678)Gat>Aat	p.D226N	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	226					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGAATGTGGATCCTCCAAG	0.428																																						ENST00000345034.1		NA																	0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(676-678)Gat>Aat		regulatory solute carrier protein, family 1, member 1		G	ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	58.0	55.0	56.0		676,	2.6	0.1	1		56	0,8600		0,0,4300	no	missense,utr-3	RSC1A1,DDI2	NM_006511.1,NM_032341.4	23,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	226/618,	15987039	1,13005	2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987039G>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.676G>A	1.37:g.15987039G>A	ENSP00000341963:p.Asp226Asn	False	False		Somatic	0				DDI2_ENST00000480945.1_3'UTR	p.D226N	NM_006511.1	NP_006502.1	WXS	Illumina HiSeq	Phase_I	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	676	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	226					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.676G>A	CCDS161.1	.	.	.	.	.	.	.	.	.	.	G	1.555	-0.538146	0.04082	2.27E-4	0.0	ENSG00000215695	ENST00000345034	T	0.25749	1.78	5.61	2.6	0.31112	.	0.951788	0.08658	N	0.912835	T	0.13030	0.0316	N	0.14661	0.345	0.09310	N	1	B	0.31548	0.328	B	0.32465	0.146	T	0.33752	-0.9856	10	0.11485	T	0.65	-24.3955	4.6168	0.12430	0.0835:0.1587:0.6044:0.1534	.	226	Q92681	RSCA1_HUMAN	N	226	ENSP00000341963:D226N	ENSP00000341963:D226N	D	+	1	0	RSC1A1	15859626	0.004000	0.15560	0.065000	0.19835	0.041000	0.13682	1.461000	0.35255	0.668000	0.31126	0.561000	0.74099	GAT		0.428	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	0	NM_006511		1:15987039
ATP12A	479	broad.mit.edu	37	13	25263488	25263488	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr13:25263488C>T	ENST00000381946.3	+	5	688	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ATP12A_ENST00000218548.6_Missense_Mutation_p.S174F			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	174					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AACATCATGTCCAGCTTCAAT	0.537																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6		NA																	0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(520-522)tCc>tTc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						198.0	181.0	187.0					13																	25263488		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25263488C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.521C>T	13.37:g.25263488C>T	ENSP00000371372:p.Ser174Phe	False	False		Somatic	0				ATP12A_ENST00000381946.3_Missense_Mutation_p.S174F	p.S174F	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina HiSeq	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	5	854	+		Lung SC(185;0.0225)|Breast(139;0.077)	174					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.521C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091802	0.55968	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89050	-2.46;-2.46	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.320771	0.30101	N	0.010404	D	0.89431	0.6713	M	0.64404	1.975	0.28626	N	0.907899	P;P	0.37612	0.531;0.602	B;B	0.42282	0.382;0.378	D	0.87031	0.2135	10	0.87932	D	0	.	16.1375	0.81497	0.0:1.0:0.0:0.0	.	174;174	P54707-2;P54707	.;AT12A_HUMAN	F	174	ENSP00000218548:S174F;ENSP00000371372:S174F	ENSP00000218548:S174F	S	+	2	0	ATP12A	24161488	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	3.379000	0.52440	2.680000	0.91292	0.561000	0.74099	TCC		0.537	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	0	NM_001676		13:25263488
MUC5B	727897	broad.mit.edu	37	11	1262417	1262417	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:1262417C>T	ENST00000529681.1	+	31	4365	c.4307C>T	c.(4306-4308)cCg>cTg	p.P1436L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P1439L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1436	7 X Cys-rich subdomain repeats.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCCCTCCCCGGCCCCAGGC	0.662																																						ENST00000447027.1		NA																	0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(4315-4317)cCg>cTg		mucin 5B, oligomeric mucus/gel-forming							23.0	28.0	26.0					11																	1262417		2024	4159	6183	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1262417C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4307C>T	11.37:g.1262417C>T	ENSP00000436812:p.Pro1436Leu	True	False		Somatic	0				MUC5B_ENST00000529681.1_Missense_Mutation_p.P1436L	p.P1439L			WXS	Illumina HiSeq	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	4374	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1436			7 X Cys-rich subdomain repeats.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4316C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	7.753	0.703670	0.15172	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17054	2.3;2.5	4.28	0.654	0.17833	.	.	.	.	.	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30504	-0.9976	9	0.87932	D	0	.	6.5043	0.22186	0.1219:0.5936:0.0:0.2846	.	2129;1439	A7Y9J9;E9PBJ0	.;.	L	1436;1439;1437;1506	ENSP00000436812:P1436L;ENSP00000415793:P1439L	ENSP00000343037:P1437L	P	+	2	0	MUC5B	1218993	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.004000	0.13106	-0.519000	0.06444	-1.615000	0.00797	CCG		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	0	XM_001126093		11:1262417
LRP2	4036	broad.mit.edu	37	2	170070366	170070366	+	Silent	SNP	G	G	A	rs569277988		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:170070366G>A	ENST00000263816.3	-	36	6126	c.5841C>T	c.(5839-5841)aaC>aaT	p.N1947N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1947					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTCCATCCACGTTTCCTCTTT	0.353																																						ENST00000263816.3		NA																	0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(5839-5841)aaC>aaT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						58.0	57.0	57.0					2																	170070366		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170070366G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5841C>T	2.37:g.170070366G>A		True	False		Somatic	0					p.N1947N	NM_004525.2	NP_004516.2	WXS	Illumina HiSeq	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	36	6126	-			1947					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.5841C>T	CCDS2232.1																																																																																				0.353	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	0	NM_004525		2:170070366
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6385-6387)Cgc>Tgc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							25.0	26.0	25.0					15																	28459392		2195	4292	6487	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28459392G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys	False	False		Somatic	0					p.R2129C	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	41	6493	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2129						Missense_Mutation	SNP	ENST00000261609.7	37	c.6385C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC		0.667	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28459392
BZRAP1	9256	broad.mit.edu	37	17	56390036	56390036	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:56390036C>G	ENST00000343736.4	-	17	2309	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E716Q|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E656Q			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	716	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACACACGCTCTACAAAATTG	0.592																																						ENST00000355701.3		NA																	0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2146-2148)Gag>Cag		benzodiazapine receptor (peripheral) associated protein 1							39.0	38.0	38.0					17																	56390036		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56390036C>G	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2146G>C	17.37:g.56390036C>G	ENSP00000345824:p.Glu716Gln	False	False		Somatic	0				BZRAP1_ENST00000268893.6_Missense_Mutation_p.E656Q|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E716Q	p.E716Q	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	WXS	Illumina HiSeq	Phase_I	O95153	RIMB1_HUMAN			17	3016	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		716			SH3 1.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.2146G>C	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825303	0.90955	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.35973	1.28;1.28;1.28	5.67	5.67	0.87782	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.50993	1.605	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.91635	0.993;0.999;0.996	T	0.52313	-0.8592	10	0.48119	T	0.1	.	18.7443	0.91787	0.0:1.0:0.0:0.0	.	716;656;716	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Q	716;716;656	ENSP00000347929:E716Q;ENSP00000345824:E716Q;ENSP00000268893:E656Q	ENSP00000268893:E656Q	E	-	1	0	BZRAP1	53745035	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.818000	0.86416	2.677000	0.91161	0.462000	0.41574	GAG		0.592	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	0	NM_004758		17:56390036
GPRC5B	51704	broad.mit.edu	37	16	19883726	19883726	+	Missense_Mutation	SNP	G	G	A	rs149830893		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:19883726G>A	ENST00000300571.2	-	2	633	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	GPRC5B_ENST00000535671.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R174W|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R148W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	148					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACCAGCCTCCGCACGCGCCAT	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		17004	0.001		0.0	False		,,,				2504	0.0					ENST00000300571.2		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(442-444)Cgg>Tgg		G protein-coupled receptor, family C, group 5, member B		G	TRP/ARG	1,4387		0,1,2193	26.0	25.0	25.0		442	4.3	0.9	16	dbSNP_134	25	0,8590		0,0,4295	no	missense	GPRC5B	NM_016235.1	101	0,1,6488	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	148/404	19883726	1,12977	2194	4295	6489	SO:0001583	missense	0							g.chr16:19883726G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.442C>T	16.37:g.19883726G>A	ENSP00000300571:p.Arg148Trp	False	False		Somatic	0				GPRC5B_ENST00000537135.1_Missense_Mutation_p.R174W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R148W	p.R148W	NM_016235.1	NP_057319.1	WXS	Illumina HiSeq	Phase_I	Q9NZH0	GPC5B_HUMAN			2	633	-			148					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.442C>T	CCDS10581.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.0	4.360599	0.82353	2.28E-4	0.0	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000537135	D;D;D	0.88124	-2.34;-2.34;-2.34	5.27	4.31	0.51392	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.90235	0.4282	9	.	.	.	.	14.4869	0.67624	0.0:0.0:0.8522:0.1478	.	174;148	B7Z831;Q9NZH0	.;GPC5B_HUMAN	W	148;148;174	ENSP00000300571:R148W;ENSP00000442858:R148W;ENSP00000441775:R174W	.	R	-	1	2	GPRC5B	19791227	0.997000	0.39634	0.859000	0.33776	0.948000	0.59901	4.463000	0.60128	1.445000	0.47624	0.650000	0.86243	CGG		0.677	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	0			16:19883726
ARMC12	221481	broad.mit.edu	37	6	35716363	35716363	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:35716363C>T	ENST00000373866.3	+	6	761	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	ARMC12_ENST00000373869.3_Missense_Mutation_p.L237F|ARMC12_ENST00000288065.2_Missense_Mutation_p.L274F			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	247						nucleus (GO:0005634)											GTCAGGGAGTCTCCTGTATGA	0.507																																						ENST00000373866.3		NA																	0					NA						c.(739-741)Ctc>Ttc		armadillo repeat containing 12							89.0	82.0	85.0					6																	35716363		2203	4300	6503	SO:0001583	missense	221481						binding	g.chr6:35716363C>T	AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.739C>T	6.37:g.35716363C>T	ENSP00000362973:p.Leu247Phe	False	False		Somatic	0				ARMC12_ENST00000373869.3_Missense_Mutation_p.L237F|ARMC12_ENST00000288065.2_Missense_Mutation_p.L274F	p.L247F			WXS	Illumina HiSeq	Phase_I	Q5T9G4	CF081_HUMAN			6	761	+			247					Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37	c.739C>T		.	.	.	.	.	.	.	.	.	.	C	18.57	3.652172	0.67472	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.32753	1.44;1.5;1.5	5.0	4.12	0.48240	.	0.000000	0.43416	D	0.000569	T	0.28067	0.0692	L	0.29908	0.895	0.33946	D	0.643809	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.17137	-1.0379	10	0.54805	T	0.06	.	10.8438	0.46730	0.0:0.9094:0.0:0.0906	.	237;274	Q5T9G4-3;Q5T9G4-2	.;.	F	237;274;247	ENSP00000362976:L237F;ENSP00000288065:L274F;ENSP00000362973:L247F	ENSP00000288065:L274F	L	+	1	0	C6orf81	35824341	0.997000	0.39634	1.000000	0.80357	0.904000	0.53231	0.781000	0.26774	1.093000	0.41377	0.650000	0.86243	CTC		0.507	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	0	NM_145028		6:35716363
SLC30A7	148867	broad.mit.edu	37	1	101379319	101379319	+	Silent	SNP	T	T	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:101379319T>C	ENST00000370112.4	+	6	799	c.612T>C	c.(610-612)caT>caC	p.H204H	SLC30A7_ENST00000357650.4_Silent_p.H204H	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	204	His-rich loop.				cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GTGCTGCACATAGCCATGATC	0.463																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4		NA																	0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(610-612)caT>caC		solute carrier family 30 (zinc transporter), member 7							174.0	136.0	149.0					1																	101379319		2203	4300	6503	SO:0001819	synonymous_variant	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101379319T>C	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.612T>C	1.37:g.101379319T>C		False	False		Somatic	0				SLC30A7_ENST00000357650.4_Silent_p.H204H	p.H204H	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	WXS	Illumina HiSeq	Phase_I	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	6	799	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	204			His-rich loop.		B2R949|D3DT61|Q8TCH2	Silent	SNP	ENST00000370112.4	37	c.612T>C	CCDS776.1																																																																																				0.463	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	0	NM_133496		1:101379319
TLN2	83660	broad.mit.edu	37	15	63089584	63089584	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:63089584G>A	ENST00000561311.1	+	47	6447	c.6217G>A	c.(6217-6219)Gac>Aac	p.D2073N	TLN2_ENST00000306829.6_Missense_Mutation_p.D2073N			Q9Y4G6	TLN2_HUMAN	talin 2	2073					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGGGCTCCGACGACCCCGA	0.672																																						ENST00000561311.1		NA																	0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(6217-6219)Gac>Aac		talin 2							24.0	27.0	26.0					15																	63089584		2203	4297	6500	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63089584G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6217G>A	15.37:g.63089584G>A	ENSP00000453508:p.Asp2073Asn	False	False		Somatic	0				TLN2_ENST00000306829.6_Missense_Mutation_p.D2073N	p.D2073N			WXS	Illumina HiSeq	Phase_I	Q9Y4G6	TLN2_HUMAN			47	6447	+			2073					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.6217G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	9.079	0.998848	0.19121	.	.	ENSG00000171914	ENST00000306829	T	0.13196	2.61	5.91	0.627	0.17675	.	0.291923	0.41938	N	0.000789	T	0.08582	0.0213	L	0.28115	0.83	0.42219	D	0.991842	B	0.22080	0.064	B	0.14578	0.011	T	0.29088	-1.0023	10	0.29301	T	0.29	-4.2882	10.025	0.42066	0.3442:0.0:0.6558:0.0	.	2073	Q9Y4G6	TLN2_HUMAN	N	2073	ENSP00000303476:D2073N	ENSP00000303476:D2073N	D	+	1	0	TLN2	60876637	1.000000	0.71417	0.002000	0.10522	0.333000	0.28666	4.144000	0.58057	-0.130000	0.11599	-0.982000	0.02568	GAC		0.672	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	0			15:63089584
PALLD	23022	broad.mit.edu	37	4	169837051	169837051	+	Missense_Mutation	SNP	G	G	A	rs114171764		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr4:169837051G>A	ENST00000505667.1	+	17	2896	c.2723G>A	c.(2722-2724)cGt>cAt	p.R908H	PALLD_ENST00000507735.1_Missense_Mutation_p.R404H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.R891H|PALLD_ENST00000335742.7_Missense_Mutation_p.R733H|PALLD_ENST00000512127.1_Missense_Mutation_p.R509H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1115					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCAAGGCCTCGTTCTAGATCA	0.393									Pancreatic Cancer, Familial Clustering of				G|||	1	0.000199681	0.0	0.0	5008	,	,		16396	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7		NA																	0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2197-2199)cGt>cAt		palladin, cytoskeletal associated protein							90.0	90.0	90.0					4																	169837051		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169837051G>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2723G>A	4.37:g.169837051G>A	ENSP00000425556:p.Arg908His	False	False		Somatic	0				PALLD_ENST00000507735.1_Missense_Mutation_p.R404H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.R891H|PALLD_ENST00000505667.1_Missense_Mutation_p.R908H|PALLD_ENST00000512127.1_Missense_Mutation_p.R509H	p.R733H			WXS	Illumina HiSeq	Phase_I	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	17	3555	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1115			Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.2198G>A	CCDS54818.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.7	4.660793	0.88154	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.66638	-0.19;-0.22;0.12;-0.12;0.16	5.68	5.68	0.88126	.	0.000000	0.31859	U	0.006948	T	0.81138	0.4760	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	0.71656	0.974;0.959;0.959;0.974	T	0.80525	-0.1344	10	0.51188	T	0.08	.	19.7942	0.96472	0.0:0.0:1.0:0.0	.	908;1115;509;891	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	H	891;733;908;509;404	ENSP00000261509:R891H;ENSP00000336735:R733H;ENSP00000425556:R908H;ENSP00000426947:R509H;ENSP00000424016:R404H	ENSP00000261509:R891H	R	+	2	0	PALLD	170073626	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	9.869000	0.99810	2.684000	0.91462	0.313000	0.20887	CGT		0.393	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	0	NM_016081		4:169837051
