#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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HIST2H2BA	337875	broad.mit.edu	37	1	120906148	120906148	+	lincRNA	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:120906148G>T	ENST00000427872.1	-	0	0				HIST2H2BA_ENST00000430394.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA																							CAGCCGCAAGGAGAGCTACTC	0.582																																						ENST00000430394.1																			0																																																			337875							g.chr1:120906148G>T																													1.37:g.120906148G>T								NR_027337.1						0	121	+									RNA	SNP	ENST00000427872.1	37																																																																																						0.582	RP11-439A17.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098238.1			73	79	73	79	---	---	---	---
SELE	6401	broad.mit.edu	37	1	169696555	169696555	+	Missense_Mutation	SNP	T	T	C	rs373583487		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:169696555T>C	ENST00000333360.7	-	10	1719	c.1580A>G	c.(1579-1581)aAt>aGt	p.N527S	SELE_ENST00000367775.1_Missense_Mutation_p.N402S|SELE_ENST00000367782.4_Missense_Mutation_p.N464S|SELE_ENST00000367776.1_Missense_Mutation_p.N464S|SELE_ENST00000367780.4_Missense_Mutation_p.N402S|SELE_ENST00000367779.4_Missense_Mutation_p.N401S|SELE_ENST00000367781.4_Missense_Mutation_p.N464S|SELE_ENST00000367777.1_Missense_Mutation_p.N464S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.N401S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	527	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TGCAGAGCCATTGAGCGTCCA	0.552																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1579-1581)aAt>aGt		selectin E		T	SER/ASN	0,4406		0,0,2203	107.0	92.0	97.0		1580	5.8	1.0	1		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	SELE	NM_000450.2	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	527/611	169696555	1,13005	2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169696555T>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1580A>G	1.37:g.169696555T>C	ENSP00000331736:p.Asn527Ser					SELE_ENST00000367782.4_Missense_Mutation_p.N464S|SELE_ENST00000367774.1_Missense_Mutation_p.N401S|SELE_ENST00000367779.4_Missense_Mutation_p.N401S|SELE_ENST00000367775.1_Missense_Mutation_p.N402S|SELE_ENST00000367776.1_Missense_Mutation_p.N464S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.N464S|SELE_ENST00000367780.4_Missense_Mutation_p.N402S|SELE_ENST00000367777.1_Missense_Mutation_p.N464S	p.N527S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			10	1719	-	all_hematologic(923;0.208)		527			Sushi 6.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1580A>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	T	0.986	-0.695572	0.03279	0.0	1.16E-4	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.83	5.83	0.93111	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.43579	D	0.000553	T	0.53802	0.1819	L	0.41710	1.295	0.20489	N	0.999892	D	0.65815	0.995	D	0.74674	0.984	T	0.48007	-0.9072	10	0.15952	T	0.53	-24.7917	10.2498	0.43362	0.0:0.0:0.1661:0.8339	.	527	P16581	LYAM2_HUMAN	S	464;464;402;401;527;464;402;464;401	ENSP00000356755:N464S;ENSP00000356756:N464S;ENSP00000356754:N402S;ENSP00000356753:N401S;ENSP00000331736:N527S;ENSP00000356751:N464S;ENSP00000356749:N402S;ENSP00000356750:N464S;ENSP00000356748:N401S	ENSP00000331736:N527S	N	-	2	0	SELE	167963179	0.919000	0.31177	0.975000	0.42487	0.114000	0.19823	1.398000	0.34554	2.223000	0.72356	0.528000	0.53228	AAT		0.552	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		6	69	6	69	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1677528	1677528	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:1677528A>G	ENST00000252804.4	-	9	955	c.905T>C	c.(904-906)cTg>cCg	p.L302P	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	302	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGATCATCAGGGTCCCATC	0.502																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(904-906)cTg>cCg		peroxidasin homolog (Drosophila)							158.0	161.0	160.0					2																	1677528		2074	4213	6287	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677528A>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.905T>C	2.37:g.1677528A>G	ENSP00000252804:p.Leu302Pro					PXDN_ENST00000483018.1_5'UTR	p.L302P	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	955	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	302			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.905T>C	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.05|18.05	3.537829|3.537829	0.65085|0.65085	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.74315|.	-0.83|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|.	0.89577|.	0.6755|.	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.994;0.994|.	D|.	0.93665|.	0.6985|.	10|.	0.87932|.	D|.	0|.	-17.834|-17.834	13.9908|13.9908	0.64364|0.64364	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	302;302|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	P|R	302|298	ENSP00000252804:L302P|.	ENSP00000252804:L302P|.	L|X	-|-	2|1	0|0	PXDN|PXDN	1656535|1656535	1.000000|1.000000	0.71417|0.71417	0.330000|0.330000	0.25442|0.25442	0.502000|0.502000	0.33828|0.33828	9.173000|9.173000	0.94815|0.94815	2.088000|2.088000	0.63022|0.63022	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.502	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		3	137	3	137	---	---	---	---
C2orf42	54980	broad.mit.edu	37	2	70408850	70408850	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:70408850C>T	ENST00000264434.2	-	3	647	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	C2orf42_ENST00000420306.1_Missense_Mutation_p.V90M|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	90										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCGAGCTCCACAAAGCATCGG	0.522																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(268-270)Gtg>Atg		chromosome 2 open reading frame 42							104.0	93.0	97.0					2																	70408850		2203	4300	6503	SO:0001583	missense	54980							g.chr2:70408850C>T	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.268G>A	2.37:g.70408850C>T	ENSP00000264434:p.Val90Met					C2orf42_ENST00000420306.1_Missense_Mutation_p.V90M|C2orf42_ENST00000470096.1_5'UTR	p.V90M	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	647	-			90					D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	c.268G>A	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385709	0.82792	.	.	ENSG00000115998	ENST00000264434;ENST00000420306;ENST00000447804;ENST00000417865;ENST00000419381;ENST00000457952	T;T	0.58210	0.35;0.35	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.64404	1.975	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.73285	-0.4031	10	0.87932	D	0	-12.2802	16.994	0.86361	0.0:1.0:0.0:0.0	.	90	Q9NWW7	CB042_HUMAN	M	90	ENSP00000264434:V90M;ENSP00000404515:V90M	ENSP00000264434:V90M	V	-	1	0	C2orf42	70262354	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.768000	0.74980	2.576000	0.86940	0.485000	0.47835	GTG		0.522	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		8	75	8	75	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218673380	218673380	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:218673380C>T	ENST00000171887.4	-	31	5428	c.4976G>A	c.(4975-4977)cGc>cAc	p.R1659H	TNS1_ENST00000419504.1_Missense_Mutation_p.R1645H|TNS1_ENST00000430930.1_Missense_Mutation_p.R1638H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1659					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGTAGTGGCGTCTGAAAAA	0.502																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(4975-4977)cGc>cAc		tensin 1							277.0	258.0	264.0					2																	218673380		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218673380C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4976G>A	2.37:g.218673380C>T	ENSP00000171887:p.Arg1659His					TNS1_ENST00000430930.1_Missense_Mutation_p.R1638H|TNS1_ENST00000419504.1_Missense_Mutation_p.R1645H	p.R1659H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	31	5428	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1659					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.4976G>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760664	0.89932	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	4.02	4.02	0.46733	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.153836	0.44097	D	0.000492	T	0.67011	0.2848	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.77024	-0.2741	10	0.87932	D	0	.	16.3875	0.83521	0.0:1.0:0.0:0.0	.	1659;1638;1645	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	H	1659;797;1645;1638	ENSP00000171887:R1659H;ENSP00000394171:R797H;ENSP00000408724:R1645H;ENSP00000406016:R1638H	ENSP00000171887:R1659H	R	-	2	0	TNS1	218381625	1.000000	0.71417	0.981000	0.43875	0.904000	0.53231	7.477000	0.81069	2.065000	0.61736	0.456000	0.33151	CGC		0.502	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		21	105	21	105	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35871289	35871289	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:35871289C>A	ENST00000303115.3	+	4	640	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K|IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCTTACCGCCAGGAAAAGGA	0.348			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(511-513)Cag>Aag		interleukin 7 receptor							74.0	73.0	73.0					5																	35871289		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871289C>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.511C>A	5.37:g.35871289C>A	ENSP00000306157:p.Gln171Lys					IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K|IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K	p.Q171K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		4	640	+	all_lung(31;0.00015)		171			Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.511C>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606172	0.46527	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	T;T;T	0.74842	-0.88;-0.88;-0.88	5.41	5.41	0.78517	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.539264	0.20291	N	0.095225	T	0.67785	0.2930	L	0.59436	1.845	0.41639	D	0.989063	B;B	0.33198	0.109;0.401	B;B	0.28465	0.063;0.09	T	0.64694	-0.6347	10	0.15066	T	0.55	-18.401	14.6955	0.69118	0.0:1.0:0.0:0.0	.	171;171	D6RGV2;P16871	.;IL7RA_HUMAN	K	171	ENSP00000306157:Q171K;ENSP00000345819:Q171K;ENSP00000421207:Q171K	ENSP00000306157:Q171K	Q	+	1	0	IL7R	35907046	0.540000	0.26410	1.000000	0.80357	0.896000	0.52359	1.185000	0.32065	2.536000	0.85505	0.655000	0.94253	CAG		0.348	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			5	44	5	44	---	---	---	---
EFNA5	1946	broad.mit.edu	37	5	106723460	106723460	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:106723460G>A	ENST00000333274.6	-	3	712	c.431C>T	c.(430-432)cCa>cTa	p.P144L	EFNA5_ENST00000509503.1_Missense_Mutation_p.P144L|EFNA5_ENST00000510359.1_5'UTR	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	144	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TCCATTATCTGGGATTGCAGA	0.423																																						ENST00000333274.6																			0				large_intestine(6)	6						c.(430-432)cCa>cTa		ephrin-A5							137.0	131.0	133.0					5																	106723460		2202	4300	6502	SO:0001583	missense	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106723460G>A	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.431C>T	5.37:g.106723460G>A	ENSP00000328777:p.Pro144Leu					EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.P144L	p.P144L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	3	712	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	144						Missense_Mutation	SNP	ENST00000333274.6	37	c.431C>T	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903332	0.33628	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	T;T	0.43688	0.94;0.94	5.7	5.7	0.88788	Cupredoxin (2);	0.104686	0.64402	D	0.000003	T	0.44477	0.1295	L	0.60845	1.875	0.80722	D	1	B	0.21225	0.053	B	0.20767	0.031	T	0.23833	-1.0177	10	0.31617	T	0.26	-9.7841	19.843	0.96697	0.0:0.0:1.0:0.0	.	144	P52803	EFNA5_HUMAN	L	144	ENSP00000328777:P144L;ENSP00000426989:P144L	ENSP00000328777:P144L	P	-	2	0	EFNA5	106751359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.338000	0.72963	2.679000	0.91253	0.655000	0.94253	CCA		0.423	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962		15	80	15	80	---	---	---	---
TBCC	6903	broad.mit.edu	37	6	42713803	42713803	+	Silent	SNP	G	G	A	rs537953279		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:42713803G>A	ENST00000372876.1	-	1	31	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TBCC_ENST00000244625.2_Silent_p.S3S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	3					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.S3S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		12523	0.0		0.001	False		,,,				2504	0.0					ENST00000244625.2																			1	Substitution - coding silent(1)	p.S3S(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(7-9)tcC>tcT		tubulin folding cofactor C							41.0	42.0	41.0					6																	42713803		2202	4299	6501	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713803G>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.9C>T	6.37:g.42713803G>A						TBCC_ENST00000372876.1_Silent_p.S3S	p.S3S			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	572	-	Colorectal(47;0.196)		3					Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.9C>T	CCDS4872.1																																																																																				0.617	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		19	44	19	44	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	53010374	53010374	+	Silent	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:53010374A>G	ENST00000259803.7	-	2	268	c.57T>C	c.(55-57)aaT>aaC	p.N19N	U3_ENST00000516121.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	19					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTTTCACATCATTAATATCCC	0.423																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(55-57)aaT>aaC		glial cells missing homolog 1 (Drosophila)							152.0	138.0	143.0					6																	53010374		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:53010374A>G	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.57T>C	6.37:g.53010374A>G							p.N19N	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			2	268	-	Lung NSC(77;0.0755)		19					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.57T>C	CCDS4950.1																																																																																				0.423	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			3	112	3	112	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378577	31378577	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:31378577G>A	ENST00000297142.3	-	2	628	c.306C>T	c.(304-306)cgC>cgT	p.R102R		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	102	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGTTCCTCTCGCGCGCGTTCG	0.473																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(304-306)cgC>cgT		neuronal differentiation 6							222.0	218.0	220.0					7																	31378577		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378577G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.306C>T	7.37:g.31378577G>A							p.R102R	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	628	-			102					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.306C>T	CCDS5434.1																																																																																				0.473	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		14	137	14	137	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48266917	48266917	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:48266917C>T	ENST00000435803.1	+	6	551	c.527C>T	c.(526-528)cCt>cTt	p.P176L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	176					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATCAGCAGCCTCATATCTGG	0.433																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(526-528)cCt>cTt		ATP-binding cassette, sub-family A (ABC1), member 13							162.0	159.0	160.0					7																	48266917		1881	4106	5987	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48266917C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.527C>T	7.37:g.48266917C>T	ENSP00000411096:p.Pro176Leu						p.P176L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			6	551	+			176					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.527C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073083	0.55646	.	.	ENSG00000179869	ENST00000435803	T	0.30448	1.53	5.37	5.37	0.77165	.	0.000000	0.40908	D	0.000997	T	0.51415	0.1673	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.47849	-0.9085	10	0.49607	T	0.09	.	14.6062	0.68481	0.0:1.0:0.0:0.0	.	176;176	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	L	176	ENSP00000411096:P176L	ENSP00000409268:P176L	P	+	2	0	ABCA13	48237463	0.548000	0.26473	0.942000	0.38095	0.230000	0.25150	1.634000	0.37123	2.489000	0.83994	0.557000	0.71058	CCT		0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		14	103	14	103	---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70981761	70981761	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:70981761G>A	ENST00000276594.2	-	2	536	c.335C>T	c.(334-336)cCg>cTg	p.P112L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGGAAGGGCGGCACTTCCCT	0.627																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(334-336)cCg>cTg		PR domain containing 14							35.0	26.0	29.0					8																	70981761		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981761G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.335C>T	8.37:g.70981761G>A	ENSP00000276594:p.Pro112Leu						p.P112L	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	536	-	Breast(64;0.193)		112					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.335C>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408687	0.62399	.	.	ENSG00000147596	ENST00000276594	T	0.12255	2.7	5.63	1.24	0.21308	.	0.196102	0.46145	N	0.000312	T	0.06735	0.0172	L	0.34521	1.04	0.09310	N	0.999999	B	0.18310	0.027	B	0.09377	0.004	T	0.41858	-0.9485	10	0.02654	T	1	-1.4711	4.9314	0.13919	0.1768:0.0:0.5282:0.295	.	112	Q9GZV8	PRD14_HUMAN	L	112	ENSP00000276594:P112L	ENSP00000276594:P112L	P	-	2	0	PRDM14	71144315	0.395000	0.25254	0.008000	0.14137	0.004000	0.04260	0.909000	0.28558	0.306000	0.22856	-0.140000	0.14226	CCG		0.627	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			11	8	11	8	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52595833	52595833	+	Splice_Site	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:52595833C>A	ENST00000373993.1	-	4	649		c.e4+1		A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000374001.2_Splice_Site|A1CF_ENST00000395489.2_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000282641.2_Splice_Site			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGATTGCTAACCTGGTAGCAG	0.463																																						ENST00000374001.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.e5+1		APOBEC1 complementation factor							99.0	90.0	93.0					10																	52595833		2203	4300	6503	SO:0001630	splice_region_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595833C>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.604+1G>T	10.37:g.52595833C>A						A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000395489.2_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site				Q9NQ94	A1CF_HUMAN			5	744	-								A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Splice_Site	SNP	ENST00000373993.1	37		CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746428	0.69418	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	A1CF	52265839	1.000000	0.71417	0.998000	0.56505	0.559000	0.35586	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	.		0.463	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	Intron	29	49	29	49	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129905901	129905901	+	Silent	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:129905901C>T	ENST00000368654.3	-	13	4578	c.4203G>A	c.(4201-4203)caG>caA	p.Q1401Q	MKI67_ENST00000368653.3_Silent_p.Q1041Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1401	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCTCCTTCTGTACGTCCC	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4201-4203)caG>caA		marker of proliferation Ki-67							285.0	264.0	271.0					10																	129905901		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905901C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4203G>A	10.37:g.129905901C>T						MKI67_ENST00000368653.3_Silent_p.Q1041Q	p.Q1401Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4578	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1401			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.4203G>A	CCDS7659.1																																																																																				0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	205	4	205	---	---	---	---
OR51G1	79324	broad.mit.edu	37	11	4945119	4945119	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:4945119C>A	ENST00000321961.2	-	1	518	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTAAGCACTGAGCTTAGC	0.532																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(451-453)Gtg>Ttg		olfactory receptor, family 51, subfamily G, member 1							102.0	85.0	91.0					11																	4945119		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945119C>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.451G>T	11.37:g.4945119C>A	ENSP00000322546:p.Val151Leu					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.V151L	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	518	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	151					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.451G>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.593264	0.00126	.	.	ENSG00000176879	ENST00000321961	T	0.35789	1.29	4.2	-1.09	0.09904	GPCR, rhodopsin-like superfamily (1);	0.436815	0.16621	U	0.206478	T	0.12902	0.0313	N	0.04959	-0.14	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.34900	-0.9810	10	0.02654	T	1	.	8.9718	0.35910	0.0:0.5789:0.0:0.4211	.	151	Q8NGK1	O51G1_HUMAN	L	151	ENSP00000322546:V151L	ENSP00000322546:V151L	V	-	1	0	OR51G1	4901695	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-2.861000	0.00726	-0.133000	0.11537	-0.252000	0.11476	GTG		0.532	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		34	35	34	35	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62289690	62289690	+	Nonsense_Mutation	SNP	T	T	A	rs377426848		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:62289690T>A	ENST00000378024.4	-	5	12473	c.12199A>T	c.(12199-12201)Aaa>Taa	p.K4067*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4067					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGCTGAATTTGGGCATTTTC	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12199-12201)Aaa>Taa		AHNAK nucleoprotein							178.0	188.0	185.0					11																	62289690		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62289690T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12199A>T	11.37:g.62289690T>A	ENSP00000367263:p.Lys4067*					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K4067*	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12473	-		Melanoma(852;0.155)	4067					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.12199A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	53	21.018077	0.99936	.	.	ENSG00000124942	ENST00000378024	.	.	.	3.89	3.89	0.44902	.	0.206647	0.29838	N	0.011062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3896	0.55350	0.0:0.0:0.0:1.0	.	.	.	.	X	4067	.	ENSP00000367263:K4067X	K	-	1	0	AHNAK	62046266	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	3.225000	0.51246	1.409000	0.46915	0.318000	0.21364	AAA		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		31	265	31	265	---	---	---	---
OR6C76	390326	broad.mit.edu	37	12	55820867	55820867	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:55820867C>G	ENST00000328314.3	+	1	830	c.830C>G	c.(829-831)tCt>tGt	p.S277C		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCAATACCTCTGTCGCTCCT	0.378																																						ENST00000328314.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(829-831)tCt>tGt		olfactory receptor, family 6, subfamily C, member 76							74.0	69.0	71.0					12																	55820867		2203	4299	6502	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820867C>G		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.830C>G	12.37:g.55820867C>G	ENSP00000328402:p.Ser277Cys						p.S277C	NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN			1	830	+			277						Missense_Mutation	SNP	ENST00000328314.3	37	c.830C>G	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	c	6.352	0.432979	0.12045	.	.	ENSG00000185821	ENST00000328314	T	0.00107	8.72	4.11	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.149414	0.31233	N	0.008001	T	0.00412	0.0013	M	0.87038	2.855	0.09310	N	1	D	0.63046	0.992	D	0.64776	0.929	T	0.30119	-0.9989	10	0.87932	D	0	.	7.0274	0.24948	0.1887:0.5969:0.2144:0.0	.	277	A6NM76	O6C76_HUMAN	C	277	ENSP00000328402:S277C	ENSP00000328402:S277C	S	+	2	0	OR6C76	54107134	0.060000	0.20803	0.014000	0.15608	0.009000	0.06853	3.017000	0.49615	1.053000	0.40415	-0.337000	0.08149	TCT		0.378	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		22	29	22	29	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81110950	81110950	+	Silent	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:81110950G>T	ENST00000228644.3	+	1	260	c.108G>T	c.(106-108)gtG>gtT	p.V36V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	36					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCCGCGAGTGGCTGCCTTCG	0.612																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(106-108)gtG>gtT		myogenic factor 5							41.0	38.0	39.0					12																	81110950		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110950G>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.108G>T	12.37:g.81110950G>T							p.V36V	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	260	+			36					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.108G>T	CCDS9020.1																																																																																				0.612	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		10	13	10	13	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121434123	121434123	+	Silent	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000402929.1_Silent_p.G338G			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1012-1014)ggC>ggT		HNF1 homeobox A							150.0	112.0	125.0					12																	121434123		2203	4300	6503	SO:0001819	synonymous_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121434123C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1014C>T	12.37:g.121434123C>T						HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G	p.G338G			P20823	HNF1A_HUMAN			5	1240	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		338					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	c.1014C>T	CCDS9209.1																																																																																				0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		29	118	29	118	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124241431	124241431	+	Missense_Mutation	SNP	T	T	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:124241431T>G	ENST00000330342.3	+	19	2611	c.2363T>G	c.(2362-2364)tTg>tGg	p.L788W	ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.L70W	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	788					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TATGGCGTCTTGCTACTGCTC	0.552																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2362-2364)tTg>tGg		ATPase, H+ transporting, lysosomal V0 subunit a2							228.0	175.0	193.0					12																	124241431		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124241431T>G	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2363T>G	12.37:g.124241431T>G	ENSP00000332247:p.Leu788Trp					ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.L70W	p.L788W	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	19	2611	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		788					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2363T>G	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573230	0.65765	.	.	ENSG00000185344	ENST00000330342;ENST00000534943;ENST00000544833	D;D;D	0.87029	-2.2;-2.2;-2.2	5.71	5.71	0.89125	.	0.201337	0.44483	D	0.000441	D	0.91838	0.7417	M	0.64567	1.98	0.53005	D	0.999967	D	0.62365	0.991	D	0.64506	0.926	D	0.92392	0.5922	10	0.62326	D	0.03	-14.9934	15.9869	0.80160	0.0:0.0:0.0:1.0	.	788	Q9Y487	VPP2_HUMAN	W	788;68;70	ENSP00000332247:L788W;ENSP00000443726:L68W;ENSP00000441143:L70W	ENSP00000332247:L788W	L	+	2	0	ATP6V0A2	122807384	1.000000	0.71417	0.964000	0.40570	0.041000	0.13682	6.217000	0.72218	2.171000	0.68590	0.533000	0.62120	TTG		0.552	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		9	127	9	127	---	---	---	---
JPH4	84502	broad.mit.edu	37	14	24040359	24040359	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:24040359G>A	ENST00000397118.3	-	6	2483	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	JPH4_ENST00000356300.4_Silent_p.D527D|JPH4_ENST00000544177.1_Silent_p.D192D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	527					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGGGGAACCGTCTCTGGGCC	0.667																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1579-1581)gaC>gaT		junctophilin 4							146.0	152.0	150.0					14																	24040359		2203	4299	6502	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040359G>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1581C>T	14.37:g.24040359G>A						JPH4_ENST00000356300.4_Silent_p.D527D|JPH4_ENST00000544177.1_Silent_p.D192D	p.D527D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2483	-	all_cancers(95;0.000251)		527					D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1581C>T	CCDS9603.1																																																																																				0.667	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		72	173	72	173	---	---	---	---
SAV1	60485	broad.mit.edu	37	14	51132328	51132328	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:51132328G>A	ENST00000324679.4	-	2	467	c.104C>T	c.(103-105)cCt>cTt	p.P35L	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	35					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GATGAATGAAGGCATAAGATC	0.358																																						ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(103-105)cCt>cTt		salvador homolog 1 (Drosophila)							29.0	30.0	30.0					14																	51132328		2193	4285	6478	SO:0001583	missense	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132328G>A	AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.104C>T	14.37:g.51132328G>A	ENSP00000324729:p.Pro35Leu						p.P35L	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN			2	467	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		35					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	37	c.104C>T	CCDS9701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.510210|4.510210	0.85282|0.85282	.|.	.|.	ENSG00000151748|ENSG00000151748	ENST00000556735|ENST00000324679;ENST00000535862	.|T	.|0.44482	.|0.92	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37019|0.37019	0.0988|0.0988	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P	.|0.47762	.|0.9	.|B	.|0.41135	.|0.348	T|T	0.36744|0.36744	-0.9735|-0.9735	5|10	.|0.72032	.|D	.|0.01	-12.3855|-12.3855	17.6718|17.6718	0.88220|0.88220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|35	.|Q9H4B6	.|SAV1_HUMAN	F|L	75|35;2	.|ENSP00000324729:P35L	.|ENSP00000324729:P35L	L|P	-|-	1|2	0|0	SAV1|SAV1	50202078|50202078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	9.364000|9.364000	0.97136|0.97136	2.422000|2.422000	0.82143|0.82143	0.563000|0.563000	0.77884|0.77884	CTT|CCT		0.358	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			5	16	5	16	---	---	---	---
DNM1P34	729809	broad.mit.edu	37	15	75594869	75594869	+	RNA	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:75594869C>T	ENST00000567292.1	-	0	437							Q6PK57	DMP34_HUMAN	DNM1 pseudogene 34							microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CATGAGGTCCCACACGGTCTT	0.587																																						ENST00000567292.1																			0																																																			729809							g.chr15:75594869C>T	AJ576251		15q24.2	2013-04-25			ENSG00000260357	ENSG00000260357			35181	pseudogene	pseudogene				DNM1DN8@			Standard	NG_009143		Approved	DNM1DN8-1, DNM1DN8-5	uc002azx.1	Q6PK57	OTTHUMG00000172673		15.37:g.75594869C>T														0	437	-									RNA	SNP	ENST00000567292.1	37																																																																																						0.587	DNM1P34-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419799.1	NG_009143		5	35	5	35	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79748639	79748639	+	Silent	SNP	C	C	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:79748639C>G	ENST00000305428.3	+	2	225	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	50						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAGTGTGCTCTTCTACACAG	0.458																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(148-150)ctC>ctG		KIAA1024							120.0	113.0	115.0					15																	79748639		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79748639C>G	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.150C>G	15.37:g.79748639C>G							p.L50L	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	225	+			50					A7MD43	Silent	SNP	ENST00000305428.3	37	c.150C>G	CCDS32306.1																																																																																				0.458	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		49	60	49	60	---	---	---	---
DYNC1LI2	1783	broad.mit.edu	37	16	66770148	66770148	+	Splice_Site	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr16:66770148C>T	ENST00000258198.2	-	5	736		c.e5-1		DYNC1LI2_ENST00000443351.2_Splice_Site|DYNC1LI2_ENST00000440564.2_Splice_Site|DYNC1LI2_ENST00000379482.2_Splice_Site|RP11-63M22.1_ENST00000565082.1_lincRNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCTTTCACAACTGGGGGAAAA	0.393																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.e5-1		dynein, cytoplasmic 1, light intermediate chain 2							58.0	57.0	58.0					16																	66770148		2200	4300	6500	SO:0001630	splice_region_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66770148C>T	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.530-1G>A	16.37:g.66770148C>T						DYNC1LI2_ENST00000440564.2_Splice_Site|DYNC1LI2_ENST00000443351.2_Splice_Site|DYNC1LI2_ENST00000379482.2_Splice_Site		NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	5	736	-		Ovarian(137;0.0563)						A8K6V1|B4DZP4|Q8TAT3	Splice_Site	SNP	ENST00000258198.2	37		CCDS10818.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658249	0.29425	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000443351;ENST00000440564	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9925	0.92798	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DYNC1LI2	65327649	1.000000	0.71417	0.998000	0.56505	0.138000	0.21146	7.320000	0.79064	2.714000	0.92807	0.563000	0.77884	.		0.393	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141	Intron	17	4	17	4	---	---	---	---
OR3A2	4995	broad.mit.edu	37	17	3181633	3181633	+	Silent	SNP	G	G	A	rs202057099		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:3181633G>A	ENST00000408891.2	-	1	635	c.597C>T	c.(595-597)tcC>tcT	p.S199S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	199					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						GTTGGGTGCTGGAGCAGGAGA	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21981	0.0		0.0	False		,,,				2504	0.0				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	ENST00000408891.2																			0				ovary(1)	1						c.(595-597)tcC>tcT		olfactory receptor, family 3, subfamily A, member 2							77.0	70.0	73.0					17																	3181633		2203	4300	6503	SO:0001819	synonymous_variant	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181633G>A	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.597C>T	17.37:g.3181633G>A							p.S199S	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN			1	635	-			199					Q6IFM3|Q9P1Q3	Silent	SNP	ENST00000408891.2	37	c.597C>T	CCDS42233.1																																																																																				0.552	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			21	68	21	68	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)	CAGGAACTGTTACACATGTAG	0.572		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"""		95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(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.(715-717)Aac>Gac	Other conserved DNA damage response genes	tumor protein p53							133.0	104.0	114.0					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577566T>C	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.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp	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)				TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D	p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.715A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	43	37	43	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319343	21319343	+	Missense_Mutation	SNP	C	C	T	rs377513949		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:21319343C>T	ENST00000583088.1	+	3	1584	c.689C>T	c.(688-690)gCg>gTg	p.A230V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	230					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CATGTGCGCGCGCAGCTCATC	0.637										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(688-690)gCg>gTg		potassium inwardly-rectifying channel, subfamily J, member 12		C	VAL/ALA	0,4406		0,0,2203	88.0	70.0	76.0		689	5.3	1.0	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNJ12	NM_021012.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	230/434	21319343	1,13005	2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319343C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.689C>T	17.37:g.21319343C>T	ENSP00000463778:p.Ala230Val	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	p.A230V	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1584	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.689C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	33	5.222216	0.95139	0.0	1.16E-4	ENSG00000184185	ENST00000331718	D	0.91686	-2.89	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	L	0.58925	1.835	0.80722	D	1	D	0.69078	0.997	P	0.55508	0.777	D	0.94602	0.7797	10	0.87932	D	0	.	18.9979	0.92821	0.0:1.0:0.0:0.0	.	230	Q14500	IRK12_HUMAN	V	230	ENSP00000328150:A230V	ENSP00000328150:A230V	A	+	2	0	KCNJ12	21259936	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.680000	0.84062	2.496000	0.84212	0.655000	0.94253	GCG		0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	64	4	64	---	---	---	---
C17orf78	284099	broad.mit.edu	37	17	35745662	35745662	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:35745662T>A	ENST00000300618.4	+	5	616	c.566T>A	c.(565-567)aTt>aAt	p.I189N	RP11-378E13.3_ENST00000592238.1_RNA|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000589665.1_Intron|ACACA_ENST00000416895.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	189						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AAAATTCTGATTGCTGTCACC	0.398																																						ENST00000300618.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(565-567)aTt>aAt		chromosome 17 open reading frame 78							167.0	155.0	159.0					17																	35745662		1880	4107	5987	SO:0001583	missense	284099					integral to membrane		g.chr17:35745662T>A	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.566T>A	17.37:g.35745662T>A	ENSP00000300618:p.Ile189Asn					ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000589665.1_Intron	p.I189N	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN			5	616	+		Breast(25;0.00295)|Ovarian(249;0.15)	189					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.566T>A	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633800	0.47049	.	.	ENSG00000167230	ENST00000300618	T	0.63417	-0.04	4.96	3.88	0.44766	.	0.000000	0.51477	D	0.000097	T	0.63486	0.2515	L	0.32530	0.975	0.32733	N	0.508797	D	0.63046	0.992	P	0.62184	0.899	T	0.70766	-0.4783	10	0.87932	D	0	-7.6154	7.2045	0.25899	0.0:0.0989:0.0:0.9011	.	189	Q8N4C9	CQ078_HUMAN	N	189	ENSP00000300618:I189N	ENSP00000300618:I189N	I	+	2	0	C17orf78	32819775	1.000000	0.71417	0.998000	0.56505	0.530000	0.34684	1.932000	0.40143	0.934000	0.37316	0.524000	0.50904	ATT		0.398	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		13	12	13	12	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25583091	25583091	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25583091G>T	ENST00000269141.3	-	7	1313	c.890C>A	c.(889-891)cCc>cAc	p.P297H	CDH2_ENST00000399380.3_Missense_Mutation_p.P266H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	297	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGGGCATTGGGATCGTCAGC	0.458																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(889-891)cCc>cAc		cadherin 2, type 1, N-cadherin (neuronal)							208.0	149.0	169.0					18																	25583091		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25583091G>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.890C>A	18.37:g.25583091G>T	ENSP00000269141:p.Pro297His					CDH2_ENST00000399380.3_Missense_Mutation_p.P266H	p.P297H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			7	1313	-			297			Cadherin 2.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.890C>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923117	0.73213	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61274	0.12;0.12	5.48	4.59	0.56863	Cadherin (4);Cadherin-like (1);	0.105067	0.64402	D	0.000003	T	0.73984	0.3657	M	0.79805	2.47	0.48975	D	0.999731	D;D	0.89917	0.966;1.0	D;D	0.77557	0.912;0.99	T	0.76476	-0.2945	10	0.72032	D	0.01	.	9.2962	0.37817	0.0726:0.0:0.7817:0.1457	.	266;297	A8MWK3;P19022	.;CADH2_HUMAN	H	297;266	ENSP00000269141:P297H;ENSP00000382312:P266H	ENSP00000269141:P297H	P	-	2	0	CDH2	23837089	1.000000	0.71417	0.461000	0.27105	0.907000	0.53573	5.601000	0.67606	1.396000	0.46663	0.563000	0.77884	CCC		0.458	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		4	84	4	84	---	---	---	---
SHC2	25759	broad.mit.edu	37	19	438989	438989	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:438989C>T	ENST00000264554.6	-	3	580	c.581G>A	c.(580-582)cGg>cAg	p.R194Q		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	194	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATCCCCGGACGCCAGG	0.677																																						ENST00000264554.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(580-582)cGg>cAg		SHC (Src homology 2 domain containing) transforming protein 2							23.0	24.0	24.0					19																	438989		1857	4078	5935	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:438989C>T	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.581G>A	19.37:g.438989C>T	ENSP00000264554:p.Arg194Gln						p.R194Q	NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	580	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	194			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.581G>A	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511600	0.64522	.	.	ENSG00000129946	ENST00000264554	T	0.13901	2.55	3.35	1.2	0.21068	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.195252	0.39475	N	0.001348	T	0.14830	0.0358	L	0.43152	1.355	0.28349	N	0.920994	D	0.52996	0.957	P	0.50537	0.643	T	0.04522	-1.0945	10	0.54805	T	0.06	-17.0303	6.1684	0.20404	0.0:0.6571:0.0:0.3429	.	194	P98077	SHC2_HUMAN	Q	194	ENSP00000264554:R194Q	ENSP00000264554:R194Q	R	-	2	0	SHC2	389989	0.978000	0.34361	0.962000	0.40283	0.902000	0.53008	2.254000	0.43214	0.713000	0.32060	0.313000	0.20887	CGG		0.677	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			9	12	9	12	---	---	---	---
PRKACA	5566	broad.mit.edu	37	19	14204548	14204548	+	Silent	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:14204548C>A	ENST00000308677.4	-	9	1018	c.822G>T	c.(820-822)ctG>ctT	p.L274L	PRKACA_ENST00000589994.1_Silent_p.L266L|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|SAMD1_ENST00000541938.1_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTACCTGCAGGAGGTTCC	0.542																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(820-822)ctG>ctT		protein kinase, cAMP-dependent, catalytic, alpha							109.0	99.0	102.0					19																	14204548		2203	4300	6503	SO:0001819	synonymous_variant	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14204548C>A		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.822G>T	19.37:g.14204548C>A						PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.L266L	p.L274L	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			9	1018	-			274			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	c.822G>T	CCDS12304.1																																																																																				0.542	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		3	66	3	66	---	---	---	---
RAC2	5880	broad.mit.edu	37	22	37622732	37622732	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr22:37622732C>T	ENST00000249071.6	-	6	681	c.560G>A	c.(559-561)cGc>cAc	p.R187H	RAC2_ENST00000405484.1_Missense_Mutation_p.R180H|RAC2_ENST00000406508.1_Missense_Mutation_p.R143H	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	187					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	GCTGCAGGCGCGCTTCTGCTG	0.632																																						ENST00000249071.6																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(559-561)cGc>cAc		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)							48.0	50.0	49.0					22																	37622732		2203	4298	6501	SO:0001583	missense	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37622732C>T	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.560G>A	22.37:g.37622732C>T	ENSP00000249071:p.Arg187His					RAC2_ENST00000406508.1_Missense_Mutation_p.R143H|RAC2_ENST00000405484.1_Missense_Mutation_p.R180H	p.R187H	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			6	681	-			187					Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.560G>A	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670719	0.47781	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484	T;T;T	0.67171	-0.25;0.24;-0.12	4.89	4.89	0.63831	.	0.253357	0.32769	N	0.005677	T	0.64940	0.2644	L	0.54323	1.7	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.64512	-0.6390	10	0.72032	D	0.01	.	18.0626	0.89382	0.0:1.0:0.0:0.0	.	187	P15153	RAC2_HUMAN	H	187;143;180	ENSP00000249071:R187H;ENSP00000385270:R143H;ENSP00000385590:R180H	ENSP00000249071:R187H	R	-	2	0	RAC2	35952678	0.998000	0.40836	0.946000	0.38457	0.848000	0.48234	3.751000	0.55165	2.254000	0.74563	0.561000	0.74099	CGC		0.632	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			7	15	7	15	---	---	---	---
NSDHL	50814	broad.mit.edu	37	X	152037459	152037459	+	Silent	SNP	A	A	G	rs375828345		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:152037459A>G	ENST00000370274.3	+	8	1115	c.921A>G	c.(919-921)ctA>ctG	p.L307L	NSDHL_ENST00000440023.1_Silent_p.L307L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	307					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTGCTATCCCTGCTGG	0.582																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(919-921)ctA>ctG		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)	A	,	1,3834		0,1,1631,571	101.0	83.0	89.0		921,921	1.0	0.8	X		89	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	NSDHL	NM_001129765.1,NM_015922.2	,	0,1,4059,2443	GG,GA,AA,A		0.0,0.0261,0.0095	,	307/374,307/374	152037459	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037459A>G	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.921A>G	X.37:g.152037459A>G						NSDHL_ENST00000440023.1_Silent_p.L307L	p.L307L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1115	+	Acute lymphoblastic leukemia(192;6.56e-05)		307					D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	c.921A>G	CCDS14717.1																																																																																				0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		38	5	38	5	---	---	---	---
