#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCDH15	65217	broad.mit.edu	37	10	55944968	55944968	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:55944968G>T	ENST00000320301.6	-	12	1760	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	PCDH15_ENST00000395446.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000409834.1_Missense_Mutation_p.Q67K|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q434K|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q419K|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q434K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q456K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q461K|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q463K|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q463K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	456	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATACCAGTCTGTGTGACGGTG	0.393										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1387-1389)Cag>Aag		protocadherin-related 15							173.0	151.0	158.0					10																	55944968		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55944968G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1366C>A	10.37:g.55944968G>T	ENSP00000322604:p.Gln456Lys	HNSCC(58;0.16)				PCDH15_ENST00000361849.3_Missense_Mutation_p.Q456K|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q434K|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q456K|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q461K|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q463K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q434K|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q419K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.Q67K|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q456K	p.Q463K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			13	1781	-		Melanoma(3;0.117)|Lung SC(717;0.238)	456			Cadherin 4.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1387C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	4.437	0.080902	0.08533	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60171	0.5;0.75;0.75;0.21;0.47;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.29	5.29	0.74685	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55816	0.1944	L	0.40543	1.245	0.21147	N	0.999771	P;B;B;B;P;B;P;B;B;B;B;B;B;B;B	0.37276	0.589;0.389;0.057;0.034;0.537;0.389;0.589;0.076;0.013;0.021;0.076;0.123;0.03;0.263;0.057	P;B;B;B;B;B;P;B;B;B;B;B;B;B;B	0.45913	0.497;0.3;0.069;0.044;0.3;0.393;0.497;0.088;0.008;0.027;0.088;0.134;0.038;0.232;0.069	T	0.49986	-0.8880	9	0.02654	T	1	.	18.0547	0.89361	0.0:0.0:1.0:0.0	.	434;456;456;461;456;419;456;456;463;463;456;461;456;434;456	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	463;461;456;456;67;463;456;419;456;434;434;456;456;461;456;456	ENSP00000363076:Q463K;ENSP00000410304:Q461K;ENSP00000378826:Q456K;ENSP00000386693:Q67K;ENSP00000378832:Q463K;ENSP00000378833:Q456K;ENSP00000378820:Q419K;ENSP00000354950:Q456K;ENSP00000378821:Q434K;ENSP00000363068:Q434K;ENSP00000322604:Q456K;ENSP00000378818:Q456K;ENSP00000412628:Q456K;ENSP00000363066:Q456K	ENSP00000322604:Q456K	Q	-	1	0	PCDH15	55614974	0.999000	0.42202	0.892000	0.35008	0.873000	0.50193	3.940000	0.56599	2.638000	0.89438	0.591000	0.81541	CAG		0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		15	44	1	0	1.3612e-06	1	1.56834e-06	15	44				
NRXN1	9378	broad.mit.edu	37	2	50723068	50723068	+	Silent	SNP	G	G	T	rs56402642	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:50723068G>T	ENST00000406316.2	-	15	4521	c.3045C>A	c.(3043-3045)gcC>gcA	p.A1015A	NRXN1_ENST00000401710.1_Silent_p.A24A|NRXN1_ENST00000401669.2_Silent_p.A1015A|NRXN1_ENST00000402717.3_Silent_p.A1007A|NRXN1_ENST00000405472.3_Silent_p.A1007A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.A1055A|NRXN1_ENST00000406859.3_Silent_p.A1015A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1015	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCTGGCTCCGGCGGTGATTT	0.473																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3163-3165)gcC>gcA		neurexin 1							185.0	181.0	182.0					2																	50723068		2083	4221	6304	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50723068G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3045C>A	2.37:g.50723068G>T						NRXN1_ENST00000401669.2_Silent_p.A1015A|NRXN1_ENST00000401710.1_Silent_p.A24A|NRXN1_ENST00000405472.3_Silent_p.A1007A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.A1007A|NRXN1_ENST00000406859.3_Silent_p.A1015A|NRXN1_ENST00000406316.2_Silent_p.A1015A	p.A1055A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		16	4504	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1015			Laminin G-like 5.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.3165C>A	CCDS54360.1																																																																																				0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			3	32	1	0	0.00024832	1	0.00026781	3	32				
PPP1R26	9858	broad.mit.edu	37	9	138376829	138376829	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:138376829G>A	ENST00000356818.2	+	4	1022	c.473G>A	c.(472-474)gGt>gAt	p.G158D	PPP1R26_ENST00000401470.3_Missense_Mutation_p.G158D|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G158D|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G158D|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G158D	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	158					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCCCAGCCAGGTGCAGCCCAG	0.652																																						ENST00000356818.2																			0											c.(472-474)gGt>gAt		protein phosphatase 1, regulatory subunit 26							17.0	22.0	21.0					9																	138376829		2193	4282	6475	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138376829G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.473G>A	9.37:g.138376829G>A	ENSP00000349274:p.Gly158Asp					PPP1R26_ENST00000401470.3_Missense_Mutation_p.G158D|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G158D|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G158D|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G158D	p.G158D	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1022	+			158					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.473G>A	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	4.307	0.056230	0.08291	.	.	ENSG00000196422	ENST00000356818	T	0.51325	0.71	0.51	0.51	0.16983	.	1.034400	0.07718	N	0.943234	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	B	0.23854	0.092	B	0.11329	0.006	T	0.19192	-1.0313	9	0.30078	T	0.28	.	.	.	.	.	158	Q5T8A7	PPR26_HUMAN	D	158	ENSP00000349274:G158D	ENSP00000349274:G158D	G	+	2	0	KIAA0649	137516650	0.001000	0.12720	0.007000	0.13788	0.023000	0.10783	0.424000	0.21330	0.518000	0.28383	0.313000	0.20887	GGT		0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		29	51	0	0	0	1	0	29	51				
RBFOX1	54715	broad.mit.edu	37	16	7645629	7645629	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:7645629G>C	ENST00000550418.1	+	8	1535	c.547G>C	c.(547-549)Ggc>Cgc	p.G183R	RBFOX1_ENST00000436368.2_Missense_Mutation_p.G203R|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G200R|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000340209.4_Missense_Mutation_p.G188R|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G203R|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G226R|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G203R|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G226R	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	183	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGTGGTAGAGGGCCGTAAAAT	0.463																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(562-564)Ggc>Cgc		RNA binding protein, fox-1 homolog (C. elegans) 1							165.0	148.0	153.0					16																	7645629		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7645629G>C	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.547G>C	16.37:g.7645629G>C	ENSP00000450031:p.Gly183Arg					RBFOX1_ENST00000553186.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G226R|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G203R|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G203R|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G203R|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G200R|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G226R	p.G188R			Q9NWB1	RFOX1_HUMAN			5	859	+			183			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.562G>C	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528697	0.85706	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	M	0.91090	3.175	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D	0.83812	0.0242	10	0.87932	D	0	-8.8392	19.975	0.97300	0.0:0.0:1.0:0.0	.	203;226;203;203;203;183;183;226	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	R	182;183;183;226;226;200;183;183;203;203;203;203;188	ENSP00000450402:G182R;ENSP00000450031:G183R;ENSP00000447753:G183R;ENSP00000446842:G226R;ENSP00000391269:G226R;ENSP00000448496:G200R;ENSP00000447281:G183R;ENSP00000447717:G183R;ENSP00000402745:G203R;ENSP00000309117:G203R;ENSP00000347855:G203R;ENSP00000344196:G188R	ENSP00000309117:G203R	G	+	1	0	RBFOX1	7585630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.724000	0.93272	0.585000	0.79938	GGC		0.463	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		12	105	0	0	0	1	0	12	105				
RALGAPA2	57186	broad.mit.edu	37	20	20601122	20601122	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:20601122C>G	ENST00000202677.7	-	11	1393	c.1386G>C	c.(1384-1386)gaG>gaC	p.E462D		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	462					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCTATCAGTCTCGGAAAATC	0.383																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(1384-1386)gaG>gaC		Ral GTPase activating protein, alpha subunit 2 (catalytic)							100.0	96.0	97.0					20																	20601122		1834	4090	5924	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20601122C>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1386G>C	20.37:g.20601122C>G	ENSP00000202677:p.Glu462Asp						p.E462D	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			11	1528	-			462					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.1386G>C	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007952|2.007952	0.35415|0.35415	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.78924|.	-1.22|.	5.6|5.6	1.39|1.39	0.22231|0.22231	.|.	0.966388|.	0.08585|.	N|.	0.924026|.	T|T	0.44074|0.44074	0.1276|0.1276	L|L	0.32530|0.32530	0.975|0.975	0.35214|0.35214	D|D	0.775419|0.775419	P|.	0.41041|.	0.736|.	B|.	0.33750|.	0.169|.	T|T	0.45977|0.45977	-0.9224|-0.9224	10|5	0.35671|.	T|.	0.21|.	.|.	9.3565|9.3565	0.38171|0.38171	0.0:0.6141:0.0:0.3859|0.0:0.6141:0.0:0.3859	.|.	462|.	Q2PPJ7|.	RGPA2_HUMAN|.	D|T	462|279	ENSP00000202677:E462D|.	ENSP00000202677:E462D|.	E|R	-|-	3|2	2|0	RALGAPA2|RALGAPA2	20549122|20549122	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.957000|0.957000	0.61999|0.61999	1.114000|1.114000	0.31196|0.31196	0.022000|0.022000	0.15160|0.15160	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.383	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		9	40	0	0	0	1	0	9	40				
KRTAP15-1	254950	broad.mit.edu	37	21	31812721	31812721	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr21:31812721T>C	ENST00000334067.3	+	1	125	c.76T>C	c.(76-78)Tat>Cat	p.Y26H		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	26						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AGTTTCCACTTATAATTTGTT	0.473																																						ENST00000334067.3																			0				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(76-78)Tat>Cat		keratin associated protein 15-1							89.0	88.0	89.0					21																	31812721		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31812721T>C	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.76T>C	21.37:g.31812721T>C	ENSP00000334866:p.Tyr26His						p.Y26H	NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN			1	125	+			26					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.76T>C	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531066	0.45073	.	.	ENSG00000186970	ENST00000334067	T	0.03094	4.05	4.79	4.79	0.61399	.	1.099460	0.07045	N	0.830806	T	0.11281	0.0275	L	0.36672	1.1	0.09310	N	1	D	0.65815	0.995	D	0.66716	0.946	T	0.40459	-0.9562	10	0.35671	T	0.21	-0.0013	11.0179	0.47701	0.0:0.0:0.0:1.0	.	26	Q3LI76	KR151_HUMAN	H	26	ENSP00000334866:Y26H	ENSP00000334866:Y26H	Y	+	1	0	KRTAP15-1	30734592	0.004000	0.15560	0.004000	0.12327	0.004000	0.04260	1.608000	0.36847	2.371000	0.80710	0.533000	0.62120	TAT		0.473	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			10	42	0	0	0	1	0	10	42				
DNAJC1	64215	broad.mit.edu	37	10	22055238	22055238	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:22055238C>A	ENST00000376980.3	-	10	1389	c.1099G>T	c.(1099-1101)Gtg>Ttg	p.V367L	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	367	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TTGGTTGTCACCTGTTTCAAA	0.383																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.e10-1		DnaJ (Hsp40) homolog, subfamily C, member 1							141.0	143.0	142.0					10																	22055238		2203	4300	6503	SO:0001630	splice_region_variant	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22055238C>A	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1099-1G>T	10.37:g.22055238C>A						DNAJC1_ENST00000483085.1_5'UTR	p.V367_splice	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			10	1389	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	367			SANT 1.		B0YIZ8|Q5VX89|Q9H6B8	Splice_Site	SNP	ENST00000376980.3	37	c.1098_splice	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902597	0.92035	.	.	ENSG00000136770	ENST00000376980	T	0.22539	1.95	5.24	5.24	0.73138	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.86805	2.84	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.987	T	0.62186	-0.6907	10	0.66056	D	0.02	-7.9025	18.8415	0.92186	0.0:1.0:0.0:0.0	.	88;367	Q96NY3;Q96KC8	.;DNJC1_HUMAN	L	367	ENSP00000366179:V367L	ENSP00000366179:V367L	V	-	1	0	DNAJC1	22095244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.310000	0.72830	2.447000	0.82792	0.591000	0.81541	GTG		0.383	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365	Missense_Mutation	43	77	1	0	2.35958e-20	1	3.27867e-20	43	77				
NLRP2	55655	broad.mit.edu	37	19	55493809	55493809	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55493809G>A	ENST00000543010.1	+	6	886	c.743G>A	c.(742-744)aGg>aAg	p.R248K	NLRP2_ENST00000537859.1_Missense_Mutation_p.R226K|NLRP2_ENST00000427260.2_Missense_Mutation_p.R225K|NLRP2_ENST00000391721.4_Missense_Mutation_p.R224K|NLRP2_ENST00000263437.6_Missense_Mutation_p.R245K|NLRP2_ENST00000448584.2_Missense_Mutation_p.R248K|NLRP2_ENST00000538819.1_Missense_Mutation_p.R224K|NLRP2_ENST00000339757.7_Missense_Mutation_p.R226K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	248	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTCAGCTGCAGGGAGCTCAGC	0.557																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(742-744)aGg>aAg		NLR family, pyrin domain containing 2							52.0	48.0	49.0					19																	55493809		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493809G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.743G>A	19.37:g.55493809G>A	ENSP00000445135:p.Arg248Lys					NLRP2_ENST00000538819.1_Missense_Mutation_p.R224K|NLRP2_ENST00000263437.6_Missense_Mutation_p.R245K|NLRP2_ENST00000448584.2_Missense_Mutation_p.R248K|NLRP2_ENST00000427260.2_Missense_Mutation_p.R225K|NLRP2_ENST00000537859.1_Missense_Mutation_p.R226K|NLRP2_ENST00000339757.7_Missense_Mutation_p.R226K|NLRP2_ENST00000391721.4_Missense_Mutation_p.R224K	p.R248K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	886	+			248			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.743G>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.535819	0.00942	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	D;D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	1.41	-1.45	0.08828	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.60894	0.2304	N	0.12527	0.23	0.09310	N	1	B;B;B;B;B	0.19073	0.018;0.026;0.033;0.026;0.033	B;B;B;B;B	0.22601	0.04;0.018;0.03;0.018;0.03	T	0.46735	-0.9170	9	0.36615	T	0.2	.	6.0386	0.19722	0.4072:0.0:0.5928:0.0	.	225;226;245;224;248	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	K	248;224;226;248;226;225;224;245	ENSP00000445135:R248K;ENSP00000375601:R224K;ENSP00000344074:R226K;ENSP00000409370:R248K;ENSP00000440601:R226K;ENSP00000402474:R225K;ENSP00000441133:R224K;ENSP00000263437:R245K	ENSP00000263437:R245K	R	+	2	0	NLRP2	60185621	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.161000	0.10026	-0.374000	0.07967	-0.674000	0.03794	AGG		0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		13	44	0	0	0	1	0	13	44				
MSC	9242	broad.mit.edu	37	8	72756405	72756405	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:72756405C>T	ENST00000325509.4	-	1	298	c.9G>A	c.(7-9)acG>acA	p.T3T	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	3					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TCACCGAGCCCGTGGACATCC	0.711																																						ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(7-9)acG>acA		musculin							23.0	25.0	24.0					8																	72756405		1666	3527	5193	SO:0001819	synonymous_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756405C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.9G>A	8.37:g.72756405C>T						RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	p.T3T	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	298	-	Breast(64;0.176)		3					O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.9G>A	CCDS43746.1																																																																																				0.711	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		16	42	0	0	0	1	0	16	42				
ASH1L	55870	broad.mit.edu	37	1	155319221	155319221	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:155319221T>C	ENST00000368346.3	-	19	8105	c.7466A>G	c.(7465-7467)gAt>gGt	p.D2489G	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2484G|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2489	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCTAGGGGATCAGAGATCTT	0.413																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(7465-7467)gAt>gGt		ash1 (absent, small, or homeotic)-like (Drosophila)							99.0	95.0	96.0					1																	155319221		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155319221T>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7466A>G	1.37:g.155319221T>C	ENSP00000357330:p.Asp2489Gly					ASH1L_ENST00000392403.3_Missense_Mutation_p.D2484G	p.D2489G			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		19	8105	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2489			Bromo.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7466A>G		.	.	.	.	.	.	.	.	.	.	T	17.43	3.386882	0.61956	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.30182	1.54;1.54	5.02	5.02	0.67125	Bromodomain (5);	0.141455	0.64402	D	0.000008	T	0.40094	0.1103	M	0.83483	2.645	0.80722	D	1	P;P	0.39847	0.691;0.641	P;P	0.49752	0.621;0.487	T	0.37865	-0.9687	10	0.49607	T	0.09	.	14.5653	0.68171	0.0:0.0:0.0:1.0	.	2489;2484	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	G	2489;2484	ENSP00000357330:D2489G;ENSP00000376204:D2484G	ENSP00000357330:D2489G	D	-	2	0	ASH1L	153585845	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	7.312000	0.78968	2.118000	0.64928	0.454000	0.30748	GAT		0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		22	36	0	0	0	1	0	22	36				
ATP10A	57194	broad.mit.edu	37	15	25959061	25959061	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:25959061C>A	ENST00000356865.6	-	10	2215	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	702					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACACCAGTGCGGCCTCATCC	0.662																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2104-2106)Gca>Tca		ATPase, class V, type 10A							47.0	46.0	46.0					15																	25959061		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959061C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2104G>T	15.37:g.25959061C>A	ENSP00000349325:p.Ala702Ser						p.A702S	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2215	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	702					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2104G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961702	0.74016	.	.	ENSG00000206190	ENST00000356865	D	0.92805	-3.11	4.5	4.5	0.54988	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97320	0.9943	10	0.72032	D	0.01	-28.1358	17.5578	0.87897	0.0:1.0:0.0:0.0	.	702	O60312	AT10A_HUMAN	S	702	ENSP00000349325:A702S	ENSP00000349325:A702S	A	-	1	0	ATP10A	23510154	1.000000	0.71417	0.223000	0.23860	0.283000	0.27025	7.282000	0.78630	2.231000	0.72958	0.561000	0.74099	GCA		0.662	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		16	49	1	0	2.23348e-06	1	2.54961e-06	16	49				
MUC4	4585	broad.mit.edu	37	3	195505842	195505842	+	Silent	SNP	T	T	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:195505842T>G	ENST00000463781.3	-	2	13068	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_ENST00000475231.1_Silent_p.T4203T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.597																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12607-12609)acA>acC		mucin 4, cell surface associated							16.0	14.0	15.0					3																	195505842		691	1577	2268	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505842T>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12609A>C	3.37:g.195505842T>G						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T	p.T4203T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13068	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	966					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12609A>C	CCDS54700.1																																																																																				0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	10	0	0	0	1	0	3	10				
CFC1	55997	broad.mit.edu	37	2	131356280	131356280	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:131356280A>C	ENST00000259216.4	-	3	444	c.182T>G	c.(181-183)gTg>gGg	p.V61G		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	61					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)			endometrium(1)|lung(4)	5	Colorectal(110;0.1)					GCTCCCAGTCACCTCTCCGAA	0.617																																						ENST00000259216.4																			0				endometrium(1)|lung(4)	5						c.(181-183)gTg>gGg		cripto, FRL-1, cryptic family 1							12.0	24.0	20.0					2																	131356280		2125	4196	6321	SO:0001583	missense	55997				determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane		g.chr2:131356280A>C	AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"""heterotaxy 2 (autosomal dominant)"""	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.182T>G	2.37:g.131356280A>C	ENSP00000259216:p.Val61Gly						p.V61G	NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN			3	444	-	Colorectal(110;0.1)		61					B2RCY0|B9EJD3|Q53T05|Q9GZR3	Missense_Mutation	SNP	ENST00000259216.4	37	c.182T>G	CCDS2162.1	.	.	.	.	.	.	.	.	.	.	.	0.240	-1.014470	0.02095	.	.	ENSG00000136698	ENST00000259216	D	0.89681	-2.55	1.91	-3.81	0.04294	.	3.723000	0.00520	N	0.000195	T	0.77685	0.4167	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61831	-0.6982	10	0.25106	T	0.35	-7.8117	0.3688	0.00376	0.2099:0.1722:0.2759:0.342	.	61	P0CG37	CFC1_HUMAN	G	61	ENSP00000259216:V61G	ENSP00000259216:V61G	V	-	2	0	CFC1	131072750	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.248000	0.00541	-2.234000	0.00715	-0.665000	0.03846	GTG		0.617	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		4	72	0	0	0	1	0	4	72				
SPATA31D5P	347127	broad.mit.edu	37	9	84531603	84531603	+	RNA	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:84531603C>A	ENST00000527857.1	+	0	1625					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GCCATTCCTCCATGTTTGTAT	0.468																																						ENST00000527857.1																			0																																																			347127							g.chr9:84531603C>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531603C>A								NR_026851.1						0	1625	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.468	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		30	23	1	0	9.78306e-22	1	1.37482e-21	30	23				
ANO5	203859	broad.mit.edu	37	11	22257772	22257772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:22257772G>T	ENST00000324559.8	+	8	1029	c.712G>T	c.(712-714)Gaa>Taa	p.E238*		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	238					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTGGGATTGAAAGACTGCT	0.388																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(712-714)Gaa>Taa		anoctamin 5							210.0	183.0	192.0					11																	22257772		2203	4300	6503	SO:0001587	stop_gained	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22257772G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.712G>T	11.37:g.22257772G>T	ENSP00000315371:p.Glu238*						p.E238*	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			8	1029	+			238						Nonsense_Mutation	SNP	ENST00000324559.8	37	c.712G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	39	7.826501	0.98510	.	.	ENSG00000171714	ENST00000324559	.	.	.	5.77	4.64	0.57946	.	0.175408	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	4.3116	0.10974	0.2997:0.0:0.7003:0.0	.	.	.	.	X	238	.	ENSP00000315371:E238X	E	+	1	0	ANO5	22214348	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	6.872000	0.75536	2.890000	0.99128	0.650000	0.86243	GAA		0.388	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		10	46	1	0	3.86212e-05	1	4.21425e-05	10	46				
KIAA1211L	343990	broad.mit.edu	37	2	99454586	99454586	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:99454586G>C	ENST00000397899.2	-	3	566	c.235C>G	c.(235-237)Ctg>Gtg	p.L79V	RNU7-46P_ENST00000459066.1_RNA|KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	79								p.L79L(1)									ACTTACTCCAGCTCATCCTCG	0.517																																						ENST00000397899.2																			1	Substitution - coding silent(1)	p.L79L(1)	endometrium(1)								c.(235-237)Ctg>Gtg		KIAA1211-like							95.0	90.0	92.0					2																	99454586		2020	4175	6195	SO:0001583	missense	343990							g.chr2:99454586G>C	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.235C>G	2.37:g.99454586G>C	ENSP00000380996:p.Leu79Val					KIAA1211L_ENST00000462314.1_5'UTR	p.L79V	NM_207362.2	NP_997245.2					3	566	-									Missense_Mutation	SNP	ENST00000397899.2	37	c.235C>G	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503862	0.26949	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.45668	0.89	5.45	5.45	0.79879	.	0.000000	0.42964	D	0.000629	T	0.59702	0.2213	M	0.63843	1.955	0.21325	N	0.999729	D	0.69078	0.997	D	0.68765	0.96	T	0.54708	-0.8253	10	0.66056	D	0.02	.	13.4158	0.60968	0.0:0.0:0.8432:0.1568	.	79	Q6NV74	CB055_HUMAN	V	79;107;93;93	ENSP00000380996:L79V	ENSP00000380996:L79V	L	-	1	2	C2orf55	98821018	0.993000	0.37304	0.846000	0.33378	0.961000	0.63080	2.299000	0.43611	2.829000	0.97493	0.655000	0.94253	CTG		0.517	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		10	33	0	0	0	1	0	10	33				
TEP1	7011	broad.mit.edu	37	14	20836999	20836999	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:20836999C>T	ENST00000262715.5	-	54	7759	c.7719G>A	c.(7717-7719)aaG>aaA	p.K2573K	TEP1_ENST00000556935.1_Silent_p.K2465K	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2573					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATCTCTGTCCTTCGAAGCTG	0.527																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(7717-7719)aaG>aaA		telomerase-associated protein 1							109.0	82.0	91.0					14																	20836999		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20836999C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7719G>A	14.37:g.20836999C>T						TEP1_ENST00000556935.1_Silent_p.K2465K	p.K2573K	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	54	7759	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2573					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.7719G>A	CCDS9548.1																																																																																				0.527	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		14	34	0	0	0	1	0	14	34				
CSMD3	114788	broad.mit.edu	37	8	113420613	113420613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:113420613G>A	ENST00000297405.5	-	34	5783	c.5539C>T	c.(5539-5541)Cag>Tag	p.Q1847*	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1807*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1743*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1847	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGTGATCTGATTACCTGAA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5539-5541)Cag>Tag		CUB and Sushi multiple domains 3							177.0	173.0	174.0					8																	113420613		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113420613G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5539C>T	8.37:g.113420613G>A	ENSP00000297405:p.Gln1847*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1807*|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1743*	p.Q1847*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			34	5783	-			1847			CUB 10.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.5539C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	45	11.656499	0.99587	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883	.	.	.	4.98	4.98	0.66077	.	0.162220	0.41605	D	0.000848	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	18.8043	0.92030	0.0:0.0:1.0:0.0	.	.	.	.	X	1807;1847;1743	.	ENSP00000297405:Q1847X	Q	-	1	0	CSMD3	113489789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.398000	0.73244	2.750000	0.94351	0.591000	0.81541	CAG		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		45	64	0	0	0	1	0	45	64				
LILRA2	11027	broad.mit.edu	37	19	55098523	55098523	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55098523G>T	ENST00000251377.3	+	8	1435	c.1302G>T	c.(1300-1302)acG>acT	p.T434T	LILRA2_ENST00000391737.1_Intron|LILRA2_ENST00000391738.3_Silent_p.T434T|CTB-83J4.2_ENST00000596330.1_lincRNA|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Intron|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	434					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGACTCCACGACTAGTGAGT	0.567																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(1300-1302)acG>acT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							63.0	55.0	58.0					19																	55098523		692	1591	2283	SO:0001819	synonymous_variant	11027							g.chr19:55098523G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1302G>T	19.37:g.55098523G>T						LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.T434T|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Intron|LILRA2_ENST00000251376.3_Intron|LILRB1_ENST00000448689.1_Intron	p.T434T						GBM - Glioblastoma multiforme(193;0.0963)	8	1435	+								O75020	Silent	SNP	ENST00000251377.3	37	c.1302G>T	CCDS46179.1																																																																																				0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			6	32	1	0	3.59834e-05	1	3.938e-05	6	32				
ZNF572	137209	broad.mit.edu	37	8	125989609	125989609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:125989609C>T	ENST00000319286.5	+	3	1253	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAGTTTGGGTCAGAACTGCAA	0.393										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(1099-1101)Cag>Tag		zinc finger protein 572							86.0	83.0	84.0					8																	125989609		2203	4300	6503	SO:0001587	stop_gained	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989609C>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1099C>T	8.37:g.125989609C>T	ENSP00000319305:p.Gln367*	HNSCC(60;0.17)					p.Q367*	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1253	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		367					A1L4F1|Q8N1Q0	Nonsense_Mutation	SNP	ENST00000319286.5	37	c.1099C>T	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563386	0.65651	.	.	ENSG00000180938	ENST00000319286	.	.	.	4.8	3.92	0.45320	.	0.607508	0.14794	N	0.298023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-0.0817	6.6842	0.23136	0.0:0.7231:0.1817:0.0952	.	.	.	.	X	367	.	ENSP00000319305:Q367X	Q	+	1	0	ZNF572	126058790	0.000000	0.05858	0.025000	0.17156	0.302000	0.27658	-0.237000	0.08990	1.216000	0.43427	0.655000	0.94253	CAG		0.393	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		12	57	0	0	0	1	0	12	57				
COL4A3	1285	broad.mit.edu	37	2	228141120	228141120	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:228141120T>G	ENST00000396578.3	+	27	2109	c.1947T>G	c.(1945-1947)agT>agG	p.S649R	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	649	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAGAGCTCAGTGTTTCAACAC	0.507																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1945-1947)agT>agG		collagen, type IV, alpha 3 (Goodpasture antigen)							70.0	72.0	71.0					2																	228141120		1905	4115	6020	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228141120T>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1947T>G	2.37:g.228141120T>G	ENSP00000379823:p.Ser649Arg					AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	p.S649R	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	27	2109	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	649			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1947T>G	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.856109	0.32791	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.91180	-2.8	5.33	-1.19	0.09585	.	0.592069	0.17048	N	0.189031	T	0.81795	0.4898	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.005;0.002	B;B;B;B	0.10450	0.005;0.005;0.005;0.002	T	0.70288	-0.4913	10	0.51188	T	0.08	.	9.3114	0.37908	0.0:0.4373:0.0:0.5627	.	649;649;649;649	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	R	649	ENSP00000379823:S649R	ENSP00000323334:S649R	S	+	3	2	COL4A3	227849364	0.000000	0.05858	0.000000	0.03702	0.844000	0.47949	0.093000	0.15086	-0.117000	0.11872	0.533000	0.62120	AGT		0.507	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		5	33	0	0	0	1	0	5	33				
NPY	4852	broad.mit.edu	37	7	24324966	24324966	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:24324966C>A	ENST00000407573.1	+	3	397	c.107C>A	c.(106-108)cCg>cAg	p.P36Q	NPY_ENST00000405982.1_Missense_Mutation_p.P36Q|NPY_ENST00000242152.2_Missense_Mutation_p.P36Q			P01303	NPY_HUMAN	neuropeptide Y	36					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCGGACAACCCGGGCGAGGAC	0.672																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(106-108)cCg>cAg		neuropeptide Y							78.0	62.0	67.0					7																	24324966		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324966C>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.107C>A	7.37:g.24324966C>A	ENSP00000384364:p.Pro36Gln					NPY_ENST00000242152.2_Missense_Mutation_p.P36Q|NPY_ENST00000405982.1_Missense_Mutation_p.P36Q	p.P36Q			P01303	NPY_HUMAN			3	397	+			36						Missense_Mutation	SNP	ENST00000407573.1	37	c.107C>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192164	0.94960	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	D;D;D	0.97553	-4.43;-4.43;-4.43	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99246	1.0886	9	0.87932	D	0	-26.4217	20.1986	0.98248	0.0:1.0:0.0:0.0	.	36	P01303	NPY_HUMAN	Q	36	ENSP00000242152:P36Q;ENSP00000384364:P36Q;ENSP00000385282:P36Q	ENSP00000242152:P36Q	P	+	2	0	NPY	24291491	1.000000	0.71417	0.970000	0.41538	0.858000	0.48976	7.783000	0.85696	2.781000	0.95711	0.650000	0.86243	CCG		0.672	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		14	39	1	0	4.36969e-10	1	5.45843e-10	14	39				
VPS13B	157680	broad.mit.edu	37	8	100791000	100791000	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:100791000T>C	ENST00000358544.2	+	42	7706	c.7595T>C	c.(7594-7596)aTg>aCg	p.M2532T	VPS13B_ENST00000357162.2_Missense_Mutation_p.M2507T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2532					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAACCACACATGTATCTTCGA	0.418																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(7594-7596)aTg>aCg		vacuolar protein sorting 13 homolog B (yeast)							123.0	116.0	118.0					8																	100791000		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100791000T>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7595T>C	8.37:g.100791000T>C	ENSP00000351346:p.Met2532Thr					VPS13B_ENST00000357162.2_Missense_Mutation_p.M2507T|VPS13B_ENST00000395996.1_3'UTR	p.M2532T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		42	7706	+	Breast(36;3.73e-07)		2532					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7595T>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833496	0.50951	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.67698	-0.28;-0.28	5.65	5.65	0.86999	.	1.227220	0.05612	N	0.578324	T	0.55000	0.1893	N	0.08118	0	0.80722	D	1	B;B	0.14438	0.002;0.01	B;B	0.13407	0.009;0.006	T	0.09530	-1.0670	10	0.59425	D	0.04	.	15.876	0.79162	0.0:0.0:0.0:1.0	.	2507;2532	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	T	2507;2532	ENSP00000349685:M2507T;ENSP00000351346:M2532T	ENSP00000349685:M2507T	M	+	2	0	VPS13B	100860176	0.471000	0.25862	0.900000	0.35374	0.998000	0.95712	3.010000	0.49559	2.143000	0.66587	0.528000	0.53228	ATG		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		51	82	0	0	0	1	0	51	82				
ALPI	248	broad.mit.edu	37	2	233322576	233322576	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:233322576G>T	ENST00000295463.3	+	7	932	c.855G>T	c.(853-855)atG>atT	p.M285I		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	285					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCATCTCATGGGTAATGACC	0.617																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.e7+1		alkaline phosphatase, intestinal							151.0	144.0	147.0					2																	233322576		2203	4300	6503	SO:0001630	splice_region_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322576G>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.856+1G>T	2.37:g.233322576G>T							p.M285_splice	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	7	932	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	285					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Splice_Site	SNP	ENST00000295463.3	37	c.856_splice	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133019	0.37630	.	.	ENSG00000163295	ENST00000295463	D	0.96619	-4.07	4.66	2.7	0.31948	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	L	0.42581	1.335	0.42641	D	0.993413	P	0.37122	0.583	P	0.49853	0.624	D	0.93044	0.6460	10	0.52906	T	0.07	.	6.782	0.23650	0.0918:0.0:0.7349:0.1733	.	285	P09923	PPBI_HUMAN	I	285	ENSP00000295463:M285I	ENSP00000295463:M285I	M	+	3	0	ALPI	233030820	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	3.781000	0.55394	1.099000	0.41499	0.561000	0.74099	ATG		0.617	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631	Missense_Mutation	50	125	1	0	9.52127e-25	1	1.35861e-24	50	125				
PCDH7	5099	broad.mit.edu	37	4	30723480	30723480	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:30723480C>A	ENST00000361762.2	+	1	1444	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	PCDH7_ENST00000543491.1_Missense_Mutation_p.P146T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTTCCCGTCGCCCGTGCTCAC	0.652																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(436-438)Ccc>Acc		protocadherin 7							31.0	23.0	26.0					4																	30723480		2202	4300	6502	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723480C>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.436C>A	4.37:g.30723480C>A	ENSP00000355243:p.Pro146Thr					PCDH7_ENST00000543491.1_Missense_Mutation_p.P146T	p.P146T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1444	+			146			Cadherin 2.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.436C>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773452	0.49786	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.38240	1.15;1.15	5.16	5.16	0.70880	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.49932	0.1586	L	0.35723	1.085	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.74023	0.976;0.982;0.946	T	0.34179	-0.9839	9	0.25751	T	0.34	.	18.2572	0.90023	0.0:1.0:0.0:0.0	.	146;146;146	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	T	146	ENSP00000355243:P146T;ENSP00000441802:P146T	ENSP00000330302:P146T	P	+	1	0	PCDH7	30332578	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.887000	0.69751	2.408000	0.81797	0.455000	0.32223	CCC		0.652	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		3	9	1	0	1	1	1	3	9				
VWA3B	200403	broad.mit.edu	37	2	98920175	98920175	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:98920175C>A	ENST00000477737.1	+	26	3635	c.3431C>A	c.(3430-3432)cCt>cAt	p.P1144H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1144										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAATTTTGCCCTCGGAGTGCA	0.378																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3430-3432)cCt>cAt		von Willebrand factor A domain containing 3B							124.0	107.0	113.0					2																	98920175		1857	4095	5952	SO:0001583	missense	200403							g.chr2:98920175C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3431C>A	2.37:g.98920175C>A	ENSP00000417955:p.Pro1144His					VWA3B_ENST00000490947.2_3'UTR	p.P1144H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			26	3635	+			1144					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3431C>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662730	0.47572	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.27256	1.68	4.47	1.69	0.24217	.	1.823050	0.04731	U	0.421108	T	0.38214	0.1032	L	0.43152	1.355	0.80722	D	1	D;D	0.65815	0.995;0.985	P;P	0.60415	0.874;0.628	T	0.27262	-1.0079	10	0.66056	D	0.02	.	6.0451	0.19755	0.0:0.6811:0.0:0.3189	.	536;1144	Q502W6-5;Q502W6	.;VWA3B_HUMAN	H	1144;266	ENSP00000417955:P1144H	ENSP00000351009:P266H	P	+	2	0	VWA3B	98286607	0.999000	0.42202	0.997000	0.53966	0.800000	0.45204	1.396000	0.34531	0.638000	0.30545	-0.157000	0.13467	CCT		0.378	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		3	29	1	0	0.115264	1	0.117159	3	29				
TRAV17	28666	broad.mit.edu	37	14	22466319	22466319	+	RNA	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:22466319C>T	ENST00000390445.2	+	0	396									T cell receptor alpha variable 17																		GATTAAGAGTCACGCTTGACA	0.443																																						ENST00000390445.2																			0																				59.0	58.0	58.0					14																	22466319		1899	4131	6030			28666							g.chr14:22466319C>T	AE000660		14q11.2	2012-02-07			ENSG00000211797	ENSG00000211797		"""T cell receptors / TRA locus"""	12113	other	T cell receptor gene						8188290, 8662074	Standard	NG_001332		Approved	TCRAV17S1, TCRAV3S1			OTTHUMG00000170643		14.37:g.22466319C>T														0	396	+									RNA	SNP	ENST00000390445.2	37																																																																																						0.443	TRAV17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409891.1	NG_001332		16	51	0	0	0	1	0	16	51				
FAM135A	57579	broad.mit.edu	37	6	71236315	71236315	+	Silent	SNP	C	C	G	rs181814115		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:71236315C>G	ENST00000418814.2	+	15	4142	c.3528C>G	c.(3526-3528)gcC>gcG	p.A1176A	FAM135A_ENST00000505769.1_Silent_p.A756A|FAM135A_ENST00000361499.3_Silent_p.A980A|FAM135A_ENST00000457062.2_Silent_p.A963A|FAM135A_ENST00000505868.1_Silent_p.A1176A|FAM135A_ENST00000370479.3_Silent_p.A963A	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1176										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AATTTGATGCCATTACAAAGC	0.398																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(3526-3528)gcC>gcG		family with sequence similarity 135, member A							96.0	101.0	99.0					6																	71236315		2203	4300	6503	SO:0001819	synonymous_variant	57579							g.chr6:71236315C>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3528C>G	6.37:g.71236315C>G						FAM135A_ENST00000370479.3_Silent_p.A963A|FAM135A_ENST00000505769.1_Silent_p.A756A|FAM135A_ENST00000457062.2_Silent_p.A963A|FAM135A_ENST00000361499.3_Silent_p.A980A|FAM135A_ENST00000505868.1_Silent_p.A1176A	p.A1176A	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	4142	+			1176					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Silent	SNP	ENST00000418814.2	37	c.3528C>G	CCDS55028.1																																																																																				0.398	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		4	99	0	0	0	1	0	4	99				
GPR98	84059	broad.mit.edu	37	5	90368415	90368415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:90368415G>A	ENST00000405460.2	+	86	18400	c.18304G>A	c.(18304-18306)Gct>Act	p.A6102T	GPR98_ENST00000425867.2_Missense_Mutation_p.A1763T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6102					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGACAAATGCTGCAGGTTT	0.423																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(18304-18306)Gct>Act		G protein-coupled receptor 98							196.0	182.0	187.0					5																	90368415		1984	4177	6161	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90368415G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18304G>A	5.37:g.90368415G>A	ENSP00000384582:p.Ala6102Thr					GPR98_ENST00000425867.2_Missense_Mutation_p.A1763T	p.A6102T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	86	18400	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	6102					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.18304G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820493	0.71028	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.43688	0.94;0.94	6.06	6.06	0.98353	GPCR, family 2-like (1);	0.151604	0.64402	D	0.000015	T	0.50120	0.1597	L	0.31065	0.9	0.53688	D	0.999971	D;D;D	0.61697	0.977;0.977;0.99	P;P;P	0.57502	0.82;0.763;0.822	T	0.24728	-1.0152	9	.	.	.	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1763;6102;1763	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	T	6102;6102;1763	ENSP00000384582:A6102T;ENSP00000392618:A1763T	.	A	+	1	0	GPR98	90404171	1.000000	0.71417	0.885000	0.34714	0.303000	0.27691	5.803000	0.69129	2.882000	0.98803	0.655000	0.94253	GCT		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		30	97	0	0	0	1	0	30	97				
TRAV14DV4	28669	broad.mit.edu	37	14	22392797	22392797	+	RNA	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:22392797C>T	ENST00000390440.2	+	0	395									T cell receptor alpha variable 14/delta variable 4																		CTGGGGGACTCAGCAATGTAT	0.507																																						ENST00000390440.2																			0																				98.0	99.0	99.0					14																	22392797		1954	4150	6104			28669							g.chr14:22392797C>T	M21626		14q11.2	2012-02-07			ENSG00000211792	ENSG00000211792		"""T cell receptors / TRA locus"""	12110	other	T cell receptor gene						2456576	Standard	NG_001332		Approved	TRAV14/DV4, TCRAV6S1-hDV104S1, hADV14S1			OTTHUMG00000168998		14.37:g.22392797C>T														0	395	+									RNA	SNP	ENST00000390440.2	37																																																																																						0.507	TRAV14DV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401896.1	NG_001332		43	100	0	0	0	1	0	43	100				
CTTNBP2	83992	broad.mit.edu	37	7	117351767	117351767	+	Missense_Mutation	SNP	C	C	T	rs374415476		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:117351767C>T	ENST00000160373.3	-	23	4907	c.4816G>A	c.(4816-4818)Gtt>Att	p.V1606I	CFTR_ENST00000608965.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1606					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACTCTTGAAACACCCAACTCA	0.418																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4816-4818)Gtt>Att		cortactin binding protein 2							129.0	114.0	119.0					7																	117351767		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117351767C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4816G>A	7.37:g.117351767C>T	ENSP00000160373:p.Val1606Ile					CFTR_ENST00000429014.1_Intron	p.V1606I	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	23	4907	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1606					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4816G>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.34|19.34	3.808440|3.808440	0.70797|0.70797	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.66815	.|-0.23	5.87|5.87	4.97|4.97	0.65823|0.65823	.|.	.|0.461521	.|0.22628	.|N	.|0.057607	T|T	0.70544|0.70544	0.3236|0.3236	M|M	0.84219|0.84219	2.685|2.685	0.31548|0.31548	N|N	0.659107|0.659107	.|P	.|0.45428	.|0.858	.|B	.|0.41374	.|0.355	T|T	0.80296|0.80296	-0.1442|-0.1442	5|10	.|0.87932	.|D	.|0	-15.1915|-15.1915	14.8255|14.8255	0.70107|0.70107	0.1432:0.8568:0.0:0.0|0.1432:0.8568:0.0:0.0	.|.	.|1606	.|Q8WZ74	.|CTTB2_HUMAN	Y|I	1093|1606	.|ENSP00000160373:V1606I	.|ENSP00000160373:V1606I	C|V	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117139003|117139003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.054000|2.054000	0.41335|0.41335	2.770000|2.770000	0.95276|0.95276	0.650000|0.650000	0.86243|0.86243	TGT|GTT		0.418	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		23	46	0	0	0	1	0	23	46				
NBPF10	100132406	broad.mit.edu	37	1	145368485	145368485	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:145368485A>T	ENST00000369339.3	+	17	2070	c.1817A>T	c.(1816-1818)cAg>cTg	p.Q606L	NBPF10_ENST00000369338.1_Missense_Mutation_p.Q604L|NBPF10_ENST00000342960.5_Missense_Mutation_p.Q3488L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	783	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGTCTTACAGGACTCACTG	0.458																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10462-10464)cAg>cTg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145368485A>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1817A>T	1.37:g.145368485A>T	ENSP00000358345:p.Gln606Leu					NBPF10_ENST00000369338.1_Missense_Mutation_p.Q604L|NBPF10_ENST00000369339.2_Missense_Mutation_p.Q606L	p.Q3488L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10498	+	all_hematologic(923;0.032)		3488					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10463A>T		.	.	.	.	.	.	.	.	.	.	.	11.02	1.515694	0.27123	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.12465	2.68;2.68	0.732	-0.709	0.11237	.	.	.	.	.	T	0.18299	0.0439	M	0.85197	2.74	0.09310	N	1	D	0.63046	0.992	D	0.83275	0.996	T	0.03852	-1.0998	9	0.52906	T	0.07	.	2.9516	0.05864	0.6593:0.0:0.3407:0.0	.	552	Q4VC10	.	L	608;604;3488	ENSP00000358344:Q604L;ENSP00000345684:Q3488L	ENSP00000345684:Q3488L	Q	+	2	0	NBPF10	144079842	0.189000	0.23263	0.001000	0.08648	0.000000	0.00434	-0.510000	0.06328	-0.251000	0.09542	-0.583000	0.04132	CAG		0.458	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		84	492	0	0	0	1	0	84	492				
GAS2L2	246176	broad.mit.edu	37	17	34073029	34073029	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:34073029G>A	ENST00000254466.6	-	6	1514	c.1487C>T	c.(1486-1488)cCt>cTt	p.P496L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P480L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	496					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCTTGGACAGGGGTTGGAGA	0.637																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1486-1488)cCt>cTt		growth arrest-specific 2 like 2							87.0	90.0	89.0					17																	34073029		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073029G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1487C>T	17.37:g.34073029G>A	ENSP00000254466:p.Pro496Leu					GAS2L2_ENST00000587565.1_Missense_Mutation_p.P480L	p.P496L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1514	-		Ovarian(249;0.17)	496					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1487C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649560	0.47362	.	.	ENSG00000132139	ENST00000254466	T	0.44083	0.93	4.92	4.92	0.64577	.	0.398329	0.22251	N	0.062554	T	0.48714	0.1515	L	0.34521	1.04	0.46458	D	0.999055	D	0.60160	0.987	P	0.57548	0.823	T	0.50625	-0.8806	10	0.87932	D	0	-7.1049	14.9847	0.71339	0.0:0.0:1.0:0.0	.	496	Q8NHY3	GA2L2_HUMAN	L	496	ENSP00000254466:P496L	ENSP00000254466:P496L	P	-	2	0	GAS2L2	31097142	0.604000	0.26932	0.997000	0.53966	0.065000	0.16274	0.785000	0.26830	2.560000	0.86352	0.655000	0.94253	CCT		0.637	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		19	72	0	0	0	1	0	19	72				
ZNF701	55762	broad.mit.edu	37	19	53086565	53086565	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:53086565T>A	ENST00000540331.1	+	5	1676	c.1451T>A	c.(1450-1452)gTt>gAt	p.V484D	ZNF701_ENST00000391785.3_Missense_Mutation_p.V418D|ZNF701_ENST00000301093.2_Missense_Mutation_p.V484D|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGTGGCAAGGTTTTTAATCAC	0.358																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1450-1452)gTt>gAt		zinc finger protein 701							57.0	52.0	54.0					19																	53086565		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086565T>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1451T>A	19.37:g.53086565T>A	ENSP00000444339:p.Val484Asp					CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.V484D|ZNF701_ENST00000391785.3_Missense_Mutation_p.V418D	p.V484D	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1676	+			418					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1451T>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	t	5.554	0.287069	0.10513	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.35789	2.19;1.29;1.29	1.98	-3.96	0.04106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32041	0.0816	L	0.41632	1.29	0.09310	N	1	P;B	0.51791	0.948;0.048	P;B	0.53450	0.726;0.018	T	0.16129	-1.0413	9	0.62326	D	0.03	.	0.9825	0.01439	0.1425:0.2826:0.2831:0.2919	.	484;418	F5GZM6;Q9NV72	.;ZN701_HUMAN	D	418;484;484	ENSP00000375662:V418D;ENSP00000301093:V484D;ENSP00000444339:V484D	ENSP00000301093:V484D	V	+	2	0	ZNF701	57778377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.979000	0.00321	-1.283000	0.02393	-3.171000	0.00057	GTT		0.358	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		18	34	0	0	0	1	0	18	34				
GABRA2	2555	broad.mit.edu	37	4	46312206	46312206	+	Silent	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:46312206A>T	ENST00000510861.1	-	6	716	c.543T>A	c.(541-543)ccT>ccA	p.P181P	GABRA2_ENST00000515082.1_Silent_p.P181P|GABRA2_ENST00000540012.1_Silent_p.P126P|GABRA2_ENST00000381620.4_Silent_p.P181P|GABRA2_ENST00000356504.1_Silent_p.P181P|GABRA2_ENST00000514090.1_Silent_p.P181P|GABRA2_ENST00000507069.1_Silent_p.P181P			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	181					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAAATTTCAGAGGACATGAAT	0.383																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(541-543)ccT>ccA		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						131.0	126.0	128.0					4																	46312206		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46312206A>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.543T>A	4.37:g.46312206A>T						GABRA2_ENST00000515082.1_Silent_p.P181P|GABRA2_ENST00000507069.1_Silent_p.P181P|GABRA2_ENST00000514090.1_Silent_p.P181P|GABRA2_ENST00000356504.1_Silent_p.P181P|GABRA2_ENST00000540012.1_Silent_p.P126P|GABRA2_ENST00000381620.4_Silent_p.P181P	p.P181P			P47869	GBRA2_HUMAN			6	716	-			181					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.543T>A	CCDS3471.1																																																																																				0.383	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			5	51	0	0	0	1	0	5	51				
DYNC1H1	1778	broad.mit.edu	37	14	102453025	102453025	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:102453025G>A	ENST00000360184.4	+	8	2627	c.2463G>A	c.(2461-2463)gcG>gcA	p.A821A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	821	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGGCATTGCGTTGGTGTGGG	0.502																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(2461-2463)gcG>gcA		dynein, cytoplasmic 1, heavy chain 1							116.0	104.0	108.0					14																	102453025		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102453025G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2463G>A	14.37:g.102453025G>A							p.A821A	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			8	2627	+			821			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.2463G>A	CCDS9966.1																																																																																				0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		16	103	0	0	0	1	0	16	103				
CTCF	10664	broad.mit.edu	37	16	67645173	67645173	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:67645173C>A	ENST00000264010.4	+	3	882	c.438C>A	c.(436-438)ggC>ggA	p.G146G	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	146					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTAAAGAGGGCCTTGCGGAAA	0.483																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(436-438)ggC>ggA		CCCTC-binding factor (zinc finger protein)							90.0	94.0	93.0					16																	67645173		2198	4300	6498	SO:0001819	synonymous_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645173C>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.438C>A	16.37:g.67645173C>A						CTCF_ENST00000401394.1_Intron	p.G146G	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	882	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	146					B5MC38|Q53XI7|Q59EL8	Silent	SNP	ENST00000264010.4	37	c.438C>A	CCDS10841.1																																																																																				0.483	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		41	76	1	0	2.2871e-25	1	3.27611e-25	41	76				
SYNPO2	171024	broad.mit.edu	37	4	119951432	119951432	+	Missense_Mutation	SNP	G	G	C	rs199913740		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:119951432G>C	ENST00000429713.2	+	4	1684	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R501T|SYNPO2_ENST00000307142.4_Missense_Mutation_p.R501T|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	501						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGAGGGAGAGAATGGATCAG	0.517																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1501-1503)aGa>aCa		synaptopodin 2							80.0	67.0	72.0					4																	119951432		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951432G>C	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1502G>C	4.37:g.119951432G>C	ENSP00000395143:p.Arg501Thr					SYNPO2_ENST00000434046.2_Missense_Mutation_p.R501T|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R501T|SYNPO2_ENST00000448416.2_Intron	p.R501T	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	1698	+			501					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.1502G>C	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.196118|4.196118	0.78902|0.78902	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	T|T;T;T	0.43688|0.41758	0.94|0.99;0.99;0.99	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.65821|0.65821	0.2728|0.2728	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.999	.|D;D;D;D	.|0.85130	.|0.994;0.997;0.994;0.991	T|T	0.64202|0.64202	-0.6463|-0.6463	6|9	.|.	.|.	.|.	-20.195|-20.195	19.4878|19.4878	0.95037|0.95037	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|501;501;501;501	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	D|T	452|501	ENSP00000425496:E452D|ENSP00000306015:R501T;ENSP00000395143:R501T;ENSP00000390965:R501T	.|.	E|R	+|+	3|2	2|0	SYNPO2|SYNPO2	120170880|120170880	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.963000|0.963000	0.63663|0.63663	9.436000|9.436000	0.97532|0.97532	2.596000|2.596000	0.87737|0.87737	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			14	35	0	0	0	1	0	14	35				
CTNND1	1500	broad.mit.edu	37	11	57563202	57563202	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:57563202G>T	ENST00000399050.4	+	5	956		c.e5+1		CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000524630.1_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529873.1_Splice_Site	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGAGACCACGGTAAACTAAGA	0.493																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.e5+1		catenin (cadherin-associated protein), delta 1							37.0	40.0	39.0					11																	57563202		1913	4122	6035	SO:0001630	splice_region_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57563202G>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.420+1G>T	11.37:g.57563202G>T						CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000526772.1_Intron				O60716	CTND1_HUMAN			5	933	+		all_epithelial(135;0.155)						A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Splice_Site	SNP	ENST00000399050.4	37		CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187791	0.78789	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000530068;ENST00000534647	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6517	0.95819	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNND1	57319778	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	9.476000	0.97823	2.750000	0.94351	0.467000	0.42956	.		0.493	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	Intron	3	13	1	0	0.115264	1	0.117159	3	13				
PON2	5445	broad.mit.edu	37	7	95035502	95035502	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:95035502T>C	ENST00000222572.3	-	8	1081	c.835A>G	c.(835-837)Atc>Gtc	p.I279V	PON2_ENST00000433091.2_Missense_Mutation_p.I267V|PON2_ENST00000536183.1_Missense_Mutation_p.I300V|PON2_ENST00000483292.1_5'UTR			Q15165	PON2_HUMAN	paraoxonase 2	279					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTACCCAGATGTCCCCCGAG	0.403																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(898-900)Atc>Gtc		paraoxonase 2							132.0	132.0	132.0					7																	95035502		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95035502T>C	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.835A>G	7.37:g.95035502T>C	ENSP00000222572:p.Ile279Val					PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.I267V|PON2_ENST00000222572.3_Missense_Mutation_p.I279V	p.I300V	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		8	1081	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		279					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.898A>G	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.343916	0.24339	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.42900	0.96;0.96;0.96	4.51	1.97	0.26223	Six-bladed beta-propeller, TolB-like (1);	0.182081	0.48767	N	0.000164	T	0.32376	0.0827	L	0.52905	1.665	0.40760	D	0.982995	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.12167	-1.0558	10	0.30078	T	0.28	-25.869	6.5957	0.22672	0.0:0.0841:0.154:0.7618	.	279;279	A4D1H7;Q15165	.;PON2_HUMAN	V	300;277;267;279	ENSP00000440282:I300V;ENSP00000404622:I267V;ENSP00000222572:I279V	ENSP00000222572:I279V	I	-	1	0	PON2	94873438	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.856000	0.27818	0.883000	0.36040	0.459000	0.35465	ATC		0.403	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		20	104	0	0	0	1	0	20	104				
SYNE1	23345	broad.mit.edu	37	6	152443755	152443755	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:152443755C>T	ENST00000367255.5	-	146	26811	c.26210G>A	c.(26209-26211)gGc>gAc	p.G8737D	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.G8689D|SYNE1_ENST00000341594.5_Missense_Mutation_p.G8349D|SYNE1_ENST00000448038.1_Missense_Mutation_p.G8689D|SYNE1_ENST00000265368.4_Missense_Mutation_p.G8737D|SYNE1_ENST00000354674.4_Missense_Mutation_p.G915D|SYNE1_ENST00000539504.1_Missense_Mutation_p.G892D|ESR1_ENST00000427531.2_Intron|SYNE1_ENST00000356820.4_Missense_Mutation_p.G3261D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8737					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAGCCGCGGCCGGACCGACC	0.557										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(26209-26211)gGc>gAc		spectrin repeat containing, nuclear envelope 1							86.0	91.0	89.0					6																	152443755		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152443755C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.26210G>A	6.37:g.152443755C>T	ENSP00000356224:p.Gly8737Asp	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.G3261D|SYNE1_ENST00000347037.5_5'UTR|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.G8689D|SYNE1_ENST00000265368.4_Missense_Mutation_p.G8737D|SYNE1_ENST00000539504.1_Missense_Mutation_p.G892D|SYNE1_ENST00000354674.4_Missense_Mutation_p.G915D|SYNE1_ENST00000341594.5_Missense_Mutation_p.G8349D|SYNE1_ENST00000423061.1_Missense_Mutation_p.G8689D	p.G8737D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	146	26811	-		Ovarian(120;0.0955)	8737					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.26210G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	5.178	0.218488	0.09810	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000354674	T;T;T;T;T;T;T;T	0.57273	0.5;4.61;0.5;0.41;0.5;0.64;2.52;4.6	5.56	5.56	0.83823	.	0.938822	0.08917	N	0.875003	T	0.24774	0.0601	L	0.29908	0.895	0.51767	D	0.999937	B;B;B	0.14012	0.001;0.001;0.009	B;B;B	0.14023	0.001;0.001;0.01	T	0.07290	-1.0780	10	0.25751	T	0.34	.	9.4765	0.38875	0.0:0.8043:0.0:0.1957	.	8737;8737;8689	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	D	8737;892;8689;8737;8689;8349;3261;922;917;915	ENSP00000356224:G8737D;ENSP00000441052:G892D;ENSP00000396024:G8689D;ENSP00000265368:G8737D;ENSP00000390975:G8689D;ENSP00000341887:G8349D;ENSP00000349276:G3261D;ENSP00000346701:G915D	ENSP00000265368:G8737D	G	-	2	0	SYNE1	152485448	0.016000	0.18221	0.941000	0.38009	0.057000	0.15508	1.434000	0.34958	2.616000	0.88540	0.655000	0.94253	GGC		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		43	68	0	0	0	1	0	43	68				
AOAH	313	broad.mit.edu	37	7	36677511	36677511	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:36677511T>C	ENST00000258749.5	-	5	795	c.396A>G	c.(394-396)acA>acG	p.T132T	AOAH_ENST00000535891.1_Silent_p.T100T|AOAH_ENST00000431169.1_Silent_p.T132T	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	132					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TAAATTTCCATGTCTCCTATA	0.358																																						ENST00000431169.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(394-396)acA>acG		acyloxyacyl hydrolase (neutrophil)							180.0	159.0	166.0					7																	36677511		2203	4300	6503	SO:0001819	synonymous_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36677511T>C	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.396A>G	7.37:g.36677511T>C						AOAH_ENST00000535891.1_Silent_p.T100T|AOAH_ENST00000258749.5_Silent_p.T132T	p.T132T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN			5	696	-			132					A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	c.396A>G	CCDS5448.1																																																																																				0.358	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		5	34	0	0	0	1	0	5	34				
OR10K2	391107	broad.mit.edu	37	1	158390393	158390393	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:158390393C>A	ENST00000314902.2	-	1	263	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q88H(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TGGTCTTCTTCTGGGACAGCA	0.478																																						ENST00000314902.2																			1	Substitution - Missense(1)	p.Q88H(1)	urinary_tract(1)	NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(262-264)caG>caT		olfactory receptor, family 10, subfamily K, member 2							174.0	168.0	170.0					1																	158390393		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390393C>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.264G>T	1.37:g.158390393C>A	ENSP00000324251:p.Gln88His						p.Q88H	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	263	-	all_hematologic(112;0.0378)		88						Missense_Mutation	SNP	ENST00000314902.2	37	c.264G>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	C	2.413	-0.334845	0.05278	.	.	ENSG00000180708	ENST00000314902	T	0.03065	4.06	4.1	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.492580	0.17156	N	0.184866	T	0.00695	0.0023	N	0.16903	0.455	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.47774	-0.9091	10	0.41790	T	0.15	.	3.2017	0.06652	0.1824:0.4334:0.0:0.3842	.	88	Q6IF99	O10K2_HUMAN	H	88	ENSP00000324251:Q88H	ENSP00000324251:Q88H	Q	-	3	2	OR10K2	156657017	0.000000	0.05858	0.107000	0.21349	0.284000	0.27059	-0.312000	0.08113	0.112000	0.17975	0.467000	0.42956	CAG		0.478	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		26	127	1	0	6.36457e-07	1	7.40206e-07	26	127				
RYR1	6261	broad.mit.edu	37	19	38973678	38973678	+	Silent	SNP	C	C	T	rs570920139		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:38973678C>T	ENST00000359596.3	+	32	4632	c.4632C>T	c.(4630-4632)aaC>aaT	p.N1544N	RYR1_ENST00000360985.3_Silent_p.N1544N|RYR1_ENST00000355481.4_Silent_p.N1544N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1544	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGGAACCCAACACTAAGCTAT	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17690	0.0		0.0	False		,,,				2504	0.0					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(4630-4632)aaC>aaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						199.0	146.0	164.0					19																	38973678		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38973678C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4632C>T	19.37:g.38973678C>T						RYR1_ENST00000360985.3_Silent_p.N1544N|RYR1_ENST00000359596.3_Silent_p.N1544N	p.N1544N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		32	4763	+	all_cancers(60;7.91e-06)		1544			6 X approximate repeats.|B30.2/SPRY 3.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.4632C>T	CCDS33011.1																																																																																				0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			36	81	0	0	0	1	0	36	81				
TMPRSS15	5651	broad.mit.edu	37	21	19653540	19653540	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr21:19653540T>A	ENST00000284885.3	-	22	2520		c.e22-2			NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15							brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGTTTCTCCTGAAAATTGTA	0.378																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.e22-2		transmembrane protease, serine 15							116.0	110.0	112.0					21																	19653540		2203	4300	6503	SO:0001630	splice_region_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19653540T>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2487-2A>T	21.37:g.19653540T>A								NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			22	2520	-								Q2NKL7	Splice_Site	SNP	ENST00000284885.3	37		CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.868744	0.32977	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1244	0.72472	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS15	18575411	1.000000	0.71417	0.963000	0.40424	0.136000	0.21042	6.173000	0.71937	2.168000	0.68352	0.397000	0.26171	.		0.378	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	Intron	18	35	0	0	0	1	0	18	35				
ANKH	56172	broad.mit.edu	37	5	14716842	14716842	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:14716842G>A	ENST00000284268.6	-	9	1444	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	ANKH_ENST00000535119.1_Missense_Mutation_p.R174W	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	372					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GAGAAGATCCGCAAAGGAACA	0.408																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1114-1116)Cgg>Tgg		ANKH inorganic pyrophosphate transport regulator							97.0	93.0	94.0					5																	14716842		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14716842G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1114C>T	5.37:g.14716842G>A	ENSP00000284268:p.Arg372Trp					ANKH_ENST00000535119.1_Missense_Mutation_p.R174W	p.R372W	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			9	1444	-			372					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.1114C>T	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758945	0.49468	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.96365	-3.43;-3.99	5.81	-0.412	0.12367	.	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	L	0.29908	0.895	0.58432	D	0.999997	D	0.60575	0.988	P	0.46339	0.513	D	0.90812	0.4702	10	0.66056	D	0.02	-56.8384	18.3609	0.90374	0.0:0.0:0.2629:0.7371	.	372	Q9HCJ1	ANKH_HUMAN	W	174;372	ENSP00000442524:R174W;ENSP00000284268:R372W	ENSP00000284268:R372W	R	-	1	2	ANKH	14769842	1.000000	0.71417	0.039000	0.18376	0.685000	0.39939	1.337000	0.33862	-0.397000	0.07691	-2.790000	0.00116	CGG		0.408	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		17	41	0	0	0	1	0	17	41				
CXorf22	170063	broad.mit.edu	37	X	35985814	35985814	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:35985814T>A	ENST00000297866.5	+	10	1745	c.1679T>A	c.(1678-1680)gTa>gAa	p.V560E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	560										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TATGCACCTGTAGCAATGCTT	0.433																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1678-1680)gTa>gAa		chromosome X open reading frame 22							122.0	99.0	107.0					X																	35985814		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35985814T>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1679T>A	X.37:g.35985814T>A	ENSP00000297866:p.Val560Glu						p.V560E	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			10	1745	+			560					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1679T>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725727	0.30593	.	.	ENSG00000165164	ENST00000297866	T	0.15718	2.4	5.35	2.73	0.32206	.	0.688916	0.13924	N	0.353398	T	0.32255	0.0823	M	0.69823	2.125	0.09310	N	1	D	0.63880	0.993	P	0.61132	0.884	T	0.10405	-1.0631	10	0.38643	T	0.18	-19.3759	6.8333	0.23923	0.0:0.2429:0.0:0.7571	.	560	Q6ZTR5	CX022_HUMAN	E	560	ENSP00000297866:V560E	ENSP00000297866:V560E	V	+	2	0	CXorf22	35895735	0.832000	0.29368	0.002000	0.10522	0.001000	0.01503	1.803000	0.38863	0.124000	0.18369	0.486000	0.48141	GTA		0.433	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		13	16	0	0	0	1	0	13	16				
PKHD1L1	93035	broad.mit.edu	37	8	110457728	110457728	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:110457728C>T	ENST00000378402.5	+	38	5734	c.5630C>T	c.(5629-5631)cCc>cTc	p.P1877L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1877	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCATCAACCCCAATGAAGTC	0.433										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5629-5631)cCc>cTc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							51.0	52.0	52.0					8																	110457728		1941	4148	6089	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457728C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5630C>T	8.37:g.110457728C>T	ENSP00000367655:p.Pro1877Leu	HNSCC(38;0.096)					p.P1877L	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5734	+			1877			IPT/TIG 11.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5630C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	1.593	-0.528553	0.04112	.	.	ENSG00000205038	ENST00000378402	T	0.77489	-1.1	5.91	0.75	0.18387	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.919495	0.09248	N	0.828332	T	0.57080	0.2029	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.36601	-0.9741	10	0.10902	T	0.67	.	2.6305	0.04942	0.1296:0.5241:0.126:0.2202	.	1877	Q86WI1	PKHL1_HUMAN	L	1877	ENSP00000367655:P1877L	ENSP00000367655:P1877L	P	+	2	0	PKHD1L1	110526904	0.002000	0.14202	0.014000	0.15608	0.407000	0.30961	1.458000	0.35223	0.106000	0.17784	0.655000	0.94253	CCC		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	24	0	0	0	1	0	8	24				
EYS	346007	broad.mit.edu	37	6	66205191	66205191	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:66205191G>C	ENST00000370621.3	-	4	639	c.113C>G	c.(112-114)tCa>tGa	p.S38*	EYS_ENST00000393380.2_Nonsense_Mutation_p.S38*|EYS_ENST00000342421.5_Nonsense_Mutation_p.S38*|EYS_ENST00000370616.2_Nonsense_Mutation_p.S38*|EYS_ENST00000503581.1_Nonsense_Mutation_p.S38*|EYS_ENST00000370618.3_Nonsense_Mutation_p.S38*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	38					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TACCACATATGATGAGGGTTG	0.393																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(112-114)tCa>tGa		eyes shut homolog (Drosophila)							107.0	106.0	106.0					6																	66205191		2203	4300	6503	SO:0001587	stop_gained	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205191G>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.113C>G	6.37:g.66205191G>C	ENSP00000359655:p.Ser38*					EYS_ENST00000370616.2_Nonsense_Mutation_p.S38*|EYS_ENST00000370618.3_Nonsense_Mutation_p.S38*|EYS_ENST00000393380.2_Nonsense_Mutation_p.S38*|EYS_ENST00000370621.3_Nonsense_Mutation_p.S38*|EYS_ENST00000342421.5_Nonsense_Mutation_p.S38*	p.S38*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	650	-			38					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37	c.113C>G		.	.	.	.	.	.	.	.	.	.	G	38	7.132360	0.98085	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.76	0.836	0.18891	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	4.5296	0.11999	0.2574:0.0:0.5896:0.153	.	.	.	.	X	38	.	ENSP00000341818:S38X	S	-	2	0	EYS	66261912	0.000000	0.05858	0.000000	0.03702	0.550000	0.35303	0.406000	0.21032	-0.080000	0.12685	0.591000	0.81541	TCA		0.393	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		25	77	0	0	0	1	0	25	77				
ABCA4	24	broad.mit.edu	37	1	94481338	94481338	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:94481338G>C	ENST00000370225.3	-	37	5355	c.5269C>G	c.(5269-5271)Cca>Gca	p.P1757A	ABCA4_ENST00000536513.1_Missense_Mutation_p.P27A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1757					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGTTTTCTGGAGAAGTGTAG	0.527																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(5269-5271)Cca>Gca		ATP-binding cassette, sub-family A (ABC1), member 4							73.0	67.0	69.0					1																	94481338		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94481338G>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5269C>G	1.37:g.94481338G>C	ENSP00000359245:p.Pro1757Ala					ABCA4_ENST00000536513.1_Missense_Mutation_p.P27A	p.P1757A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	37	5355	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1757					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.5269C>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386245	0.25031	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513	D;D	0.87029	-2.2;-2.2	4.99	1.92	0.25849	.	0.614154	0.17622	N	0.167681	T	0.62744	0.2453	L	0.31926	0.97	0.19300	N	0.999973	B;B	0.11235	0.0;0.004	B;B	0.16722	0.004;0.016	T	0.56001	-0.8051	10	0.44086	T	0.13	.	5.3044	0.15795	0.1526:0.0:0.5623:0.285	.	27;1757	B4DWY6;P78363	.;ABCA4_HUMAN	A	549;1757;27	ENSP00000359245:P1757A;ENSP00000439707:P27A	ENSP00000359245:P1757A	P	-	1	0	ABCA4	94253926	0.561000	0.26578	0.261000	0.24466	0.971000	0.66376	0.847000	0.27696	0.314000	0.23086	0.655000	0.94253	CCA		0.527	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		12	15	0	0	0	1	0	12	15				
TNKS1BP1	85456	broad.mit.edu	37	11	57076224	57076224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:57076224C>A	ENST00000532437.1	-	5	4272	c.3961G>T	c.(3961-3963)Gag>Tag	p.E1321*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E1321*|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1321	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGGTCACCTCCAAATCCCTC	0.607																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3961-3963)Gag>Tag		tankyrase 1 binding protein 1, 182kDa							133.0	144.0	140.0					11																	57076224		2201	4296	6497	SO:0001587	stop_gained	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076224C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3961G>T	11.37:g.57076224C>A	ENSP00000437271:p.Glu1321*					TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E1321*	p.E1321*			Q9C0C2	TB182_HUMAN			5	4272	-		all_epithelial(135;0.21)	1321			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Nonsense_Mutation	SNP	ENST00000532437.1	37	c.3961G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	41	8.860757	0.98980	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	.	.	.	5.08	1.53	0.23141	.	0.424791	0.19804	N	0.105693	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.537	3.9851	0.09513	0.148:0.4679:0.2898:0.0943	.	.	.	.	X	1321	.	ENSP00000350990:E1321X	E	-	1	0	TNKS1BP1	56832800	0.029000	0.19370	0.998000	0.56505	0.331000	0.28603	0.673000	0.25203	0.485000	0.27652	0.462000	0.41574	GAG		0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		47	283	1	0	3.50607e-19	1	4.8176e-19	47	283				
IGSF1	3547	broad.mit.edu	37	X	130419171	130419171	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:130419171G>A	ENST00000361420.3	-	5	728	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	IGSF1_ENST00000370901.4_Silent_p.L217L|IGSF1_ENST00000370904.1_Silent_p.L208L|IGSF1_ENST00000370903.3_Silent_p.L217L|IGSF1_ENST00000370910.1_Silent_p.L208L|IGSF1_ENST00000370900.1_Silent_p.L217L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	217	Ig-like C2-type 2.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.L217L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAGCTTCAGGGGGTTGCTG	0.537																																						ENST00000370904.1																			1	Substitution - coding silent(1)	p.L217L(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(622-624)Ctg>Ttg		immunoglobulin superfamily, member 1							96.0	74.0	81.0					X																	130419171		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130419171G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.649C>T	X.37:g.130419171G>A						IGSF1_ENST00000370910.1_Silent_p.L208L|IGSF1_ENST00000370900.1_Silent_p.L217L|IGSF1_ENST00000370901.4_Silent_p.L217L|IGSF1_ENST00000370903.3_Silent_p.L217L|IGSF1_ENST00000361420.3_Silent_p.L217L	p.L208L			Q8N6C5	IGSF1_HUMAN			11	1532	-			217			Ig-like C2-type 2.		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.622C>T	CCDS14629.1																																																																																				0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			37	22	0	0	0	1	0	37	22				
TUBGCP2	10844	broad.mit.edu	37	10	135095776	135095776	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:135095776C>A	ENST00000252936.3	-	15	2399	c.2360G>T	c.(2359-2361)gGg>gTg	p.G787V	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G657V|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G815V|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.G787V|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.G380V			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	787					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGCGGGCAGCCCCAGGACGGT	0.647																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2359-2361)gGg>gTg		tubulin, gamma complex associated protein 2							19.0	22.0	21.0					10																	135095776		2201	4298	6499	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135095776C>A	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2360G>T	10.37:g.135095776C>A	ENSP00000252936:p.Gly787Val					TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G815V|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.G787V|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.G380V|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G657V	p.G787V	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	16	2716	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	787					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.2360G>T	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.134890	0.37728	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.32753	2.42;2.18;2.42;1.44;2.45	4.98	4.98	0.66077	.	0.058688	0.64402	D	0.000002	T	0.34395	0.0896	M	0.67953	2.075	0.80722	D	1	P;P;P	0.47677	0.818;0.536;0.899	B;B;B	0.40940	0.234;0.055;0.344	T	0.20240	-1.0281	10	0.45353	T	0.12	-63.8669	15.4851	0.75560	0.0:1.0:0.0:0.0	.	815;815;787	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	V	787;657;787;380;815	ENSP00000252936:G787V;ENSP00000395666:G657V;ENSP00000357551:G787V;ENSP00000357550:G380V;ENSP00000446093:G815V	ENSP00000252936:G787V	G	-	2	0	TUBGCP2	134945766	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	5.271000	0.65553	2.770000	0.95276	0.561000	0.74099	GGG		0.647	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			9	20	1	0	3.09899e-07	1	3.64992e-07	9	20				
KIAA1549	57670	broad.mit.edu	37	7	138545898	138545898	+	Missense_Mutation	SNP	T	T	C	rs376508722		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:138545898T>C	ENST00000422774.1	-	16	5282	c.5234A>G	c.(5233-5235)aAc>aGc	p.N1745S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.N1695S|KIAA1549_ENST00000440172.1_Missense_Mutation_p.N1745S			Q9HCM3	K1549_HUMAN	KIAA1549	1745						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCAGGGATTGTTGGCCGTCTG	0.587			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5233-5235)aAc>aGc		KIAA1549		T	SER/ASN,SER/ASN	2,3874		0,2,1936	41.0	46.0	45.0		5234,5234	-6.0	0.1	7		45	0,8262		0,0,4131	no	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	46,46	0,2,6067	CC,CT,TT		0.0,0.0516,0.0165	benign,benign	1745/1951,1745/1935	138545898	2,12136	1938	4131	6069	SO:0001583	missense	57670					integral to membrane		g.chr7:138545898T>C		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5234A>G	7.37:g.138545898T>C	ENSP00000416040:p.Asn1745Ser					KIAA1549_ENST00000422774.1_Missense_Mutation_p.N1745S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.N1695S	p.N1745S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			16	5282	-			1745					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5234A>G	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	T	0.817	-0.750049	0.03041	5.16E-4	0.0	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21734	1.99;1.99;1.99	4.6	-5.97	0.02227	.	0.625964	0.16525	N	0.210620	T	0.10981	0.0268	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.12630	0.003;0.0;0.006;0.0	B;B;B;B	0.10450	0.002;0.001;0.005;0.001	T	0.24404	-1.0161	10	0.21540	T	0.41	.	11.2728	0.49148	0.1112:0.5852:0.0:0.3036	.	1745;529;1745;529	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	S	1745;1695;1745	ENSP00000406661:N1745S;ENSP00000242365:N1695S;ENSP00000416040:N1745S	ENSP00000242365:N1695S	N	-	2	0	KIAA1549	138196438	0.603000	0.26924	0.085000	0.20634	0.110000	0.19582	-0.366000	0.07563	-1.163000	0.02793	-0.371000	0.07208	AAC		0.587	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			13	41	0	0	0	1	0	13	41				
KMT2B	9757	broad.mit.edu	37	19	36215989	36215989	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:36215989G>A	ENST00000222270.7	+	10	3528		c.e10+1		KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Splice_Site	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B						chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGATTTTAAGGTATGGCATTG	0.567																																						ENST00000420124.1																			0											c.e10+1									59.0	65.0	63.0					19																	36215989		2022	4189	6211	SO:0001630	splice_region_variant	9757							g.chr19:36215989G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3528+1G>A	19.37:g.36215989G>A						KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Splice_Site								10	3528	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Splice_Site	SNP	ENST00000222270.7	37		CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679192	0.68042	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9978	0.89189	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AD000671.1	40907829	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	7.112000	0.77086	2.778000	0.95560	0.650000	0.86243	.		0.567	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	Intron	12	40	0	0	0	1	0	12	40				
BTN2A1	11120	broad.mit.edu	37	6	26468369	26468369	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:26468369G>T	ENST00000312541.5	+	8	1424	c.1176G>T	c.(1174-1176)gtG>gtT	p.V392V	BTN2A1_ENST00000541522.1_Silent_p.V331V|BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	392	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AGGTGGAGGTGGAAAACGTGA	0.552																																						ENST00000312541.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(1174-1176)gtG>gtT		butyrophilin, subfamily 2, member A1							187.0	170.0	176.0					6																	26468369		2203	4300	6503	SO:0001819	synonymous_variant	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26468369G>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.1176G>T	6.37:g.26468369G>T						BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Silent_p.V331V|BTN2A1_ENST00000429381.1_3'UTR	p.V392V	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN			8	1424	+			392			B30.2/SPRY.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Silent	SNP	ENST00000312541.5	37	c.1176G>T	CCDS4613.1																																																																																				0.552	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		32	75	1	0	4.74835e-14	1	6.31412e-14	32	75				
CNTN5	53942	broad.mit.edu	37	11	100126551	100126551	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:100126551C>T	ENST00000524871.1	+	17	2355	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	CNTN5_ENST00000279463.3_Silent_p.L689L|CNTN5_ENST00000527185.1_Silent_p.L689L|CNTN5_ENST00000418526.2_Silent_p.L615L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Silent_p.L689L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	689	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TACGGCCACACTGTCCTGGAG	0.502																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2065-2067)Ctg>Ttg		contactin 5							109.0	123.0	119.0					11																	100126551		2031	4199	6230	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100126551C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2065C>T	11.37:g.100126551C>T						CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.L689L|CNTN5_ENST00000528682.1_Silent_p.L689L|CNTN5_ENST00000279463.3_Silent_p.L689L|CNTN5_ENST00000418526.2_Silent_p.L615L	p.L689L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	17	2355	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	689			Fibronectin type-III 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.2065C>T	CCDS53696.1																																																																																				0.502	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		10	94	0	0	0	1	0	10	94				
TSPAN17	26262	broad.mit.edu	37	5	176083883	176083883	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176083883C>G	ENST00000298564.10	+	4	638	c.489C>G	c.(487-489)tcC>tcG	p.S163S	TSPAN17_ENST00000515708.1_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000508164.1_Intron			Q96FV3	TSN17_HUMAN	tetraspanin 17	247					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCACCTGTCCTCTGTCTTAC	0.637																																						ENST00000298564.10																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13						c.(487-489)tcC>tcG		tetraspanin 17							76.0	69.0	71.0					5																	176083883		2203	4300	6503	SO:0001819	synonymous_variant	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176083883C>G	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000298564.10:c.489C>G	5.37:g.176083883C>G						TSPAN17_ENST00000515708.1_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000508164.1_Intron	p.S163S			Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	638	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	247					Q6NXF7|Q96S98|Q9UKB9	Silent	SNP	ENST00000298564.10	37	c.489C>G																																																																																					0.637	TSPAN17-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387012.1			16	55	0	0	0	1	0	16	55				
DNMBP	23268	broad.mit.edu	37	10	101716099	101716099	+	Nonsense_Mutation	SNP	C	C	A	rs146369620		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:101716099C>A	ENST00000324109.4	-	4	1223	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Nonsense_Mutation_p.E378*	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	378					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCGGTGTCCTCGTCCTGATAA	0.552																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(1132-1134)Gag>Tag		dynamin binding protein							86.0	87.0	87.0					10																	101716099		2203	4300	6503	SO:0001587	stop_gained	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101716099C>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1132G>T	10.37:g.101716099C>A	ENSP00000315659:p.Glu378*					DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.E378*	p.E378*			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1223	-		Colorectal(252;0.234)	378					Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	c.1132G>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040699	0.75732	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	.	.	.	5.86	1.89	0.25635	.	0.380726	0.22306	N	0.061795	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-2.2863	6.8091	0.23794	0.0:0.5984:0.1233:0.2783	.	.	.	.	X	378	.	ENSP00000315659:E378X	E	-	1	0	DNMBP	101706089	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.423000	0.21313	0.384000	0.24942	0.561000	0.74099	GAG		0.552	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		19	71	1	0	7.45023e-12	1	9.63078e-12	19	71				
EP400	57634	broad.mit.edu	37	12	132445398	132445398	+	Silent	SNP	C	C	T	rs141965996	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:132445398C>T	ENST00000333577.4	+	2	343	c.234C>T	c.(232-234)agC>agT	p.S78S	EP400_ENST00000389561.2_Silent_p.S78S|EP400_ENST00000330386.6_Silent_p.S78S|EP400_ENST00000332482.4_Silent_p.S78S|EP400_ENST00000389562.2_Silent_p.S78S			Q96L91	EP400_HUMAN	E1A binding protein p400	78					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTGCAGAGCGTGGGCCCTG	0.632													C|||	4	0.000798722	0.003	0.0	5008	,	,		12175	0.0		0.0	False		,,,				2504	0.0					ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(232-234)agC>agT		E1A binding protein p400		C		2,4404	4.2+/-10.8	0,2,2201	59.0	60.0	59.0		234	-5.5	0.0	12	dbSNP_134	59	0,8600		0,0,4300	no	coding-synonymous	EP400	NM_015409.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		78/3124	132445398	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132445398C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.234C>T	12.37:g.132445398C>T						EP400_ENST00000389562.2_Silent_p.S78S|EP400_ENST00000389561.2_Silent_p.S78S|EP400_ENST00000330386.6_Silent_p.S78S|EP400_ENST00000332482.4_Silent_p.S78S	p.S78S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	2	343	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	78					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.234C>T																																																																																					0.632	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		19	106	0	0	0	1	0	19	106				
LYPD6	130574	broad.mit.edu	37	2	150305597	150305597	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:150305597C>G	ENST00000334166.4	+	3	410	c.153C>G	c.(151-153)acC>acG	p.T51T	LYPD6_ENST00000409381.1_Silent_p.T51T	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	51	UPAR/Ly6.					extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		AATGTTTCACCTGTGAAAAGG	0.433																																						ENST00000334166.4																			0				large_intestine(1)|lung(4)	5						c.(151-153)acC>acG		LY6/PLAUR domain containing 6							71.0	67.0	69.0					2																	150305597		2203	4300	6503	SO:0001819	synonymous_variant	130574					extracellular region		g.chr2:150305597C>G	BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.153C>G	2.37:g.150305597C>G						LYPD6_ENST00000409381.1_Silent_p.T51T	p.T51T	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0667)	3	410	+			51			UPAR/Ly6.		B3KWC0|Q4G121|Q53TR3|Q659B1	Silent	SNP	ENST00000334166.4	37	c.153C>G	CCDS2188.1																																																																																				0.433	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254800.2	NM_194317		4	20	0	0	0	1	0	4	20				
ADAMTS8	11095	broad.mit.edu	37	11	130297717	130297717	+	Silent	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:130297717G>C	ENST00000257359.6	-	1	1171	c.465C>G	c.(463-465)ccC>ccG	p.P155P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	155					negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCTCCGGCGGGACCCCAGC	0.731																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(463-465)ccC>ccG		ADAM metallopeptidase with thrombospondin type 1 motif, 8							11.0	12.0	12.0					11																	130297717		1784	3891	5675	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130297717G>C	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.465C>G	11.37:g.130297717G>C							p.P155P	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	1	1171	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	155					Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.465C>G	CCDS41732.1																																																																																				0.731	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		3	3	0	0	0	1	0	3	3				
RYR2	6262	broad.mit.edu	37	1	237850782	237850782	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:237850782C>T	ENST00000366574.2	+	63	9362	c.9045C>T	c.(9043-9045)gtC>gtT	p.V3015V	RYR2_ENST00000542537.1_Silent_p.V2999V|RYR2_ENST00000609119.1_Intron|RYR2_ENST00000360064.6_Silent_p.V3013V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3015					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|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)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTTCTTGTCAGGCATAGGA	0.408																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9043-9045)gtC>gtT		ryanodine receptor 2 (cardiac)							57.0	53.0	54.0					1																	237850782		1837	4090	5927	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237850782C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9045C>T	1.37:g.237850782C>T						RYR2_ENST00000360064.6_Silent_p.V3013V|RYR2_ENST00000542537.1_Silent_p.V2999V	p.V3015V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		63	9362	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3015			Calmodulin-binding (Potential).|Modulator (Potential).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.9045C>T	CCDS55691.1																																																																																				0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	8	0	0	0	1	0	6	8				
COL4A4	1286	broad.mit.edu	37	2	227942649	227942649	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:227942649G>T	ENST00000396625.3	-	25	2155	c.1948C>A	c.(1948-1950)Cca>Aca	p.P650T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P650T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	650	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTCACACCTGGGTGGCCTGGA	0.517																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1948-1950)Cca>Aca		collagen, type IV, alpha 4							25.0	28.0	27.0					2																	227942649		1810	4070	5880	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227942649G>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1948C>A	2.37:g.227942649G>T	ENSP00000379866:p.Pro650Thr					COL4A4_ENST00000329662.7_Missense_Mutation_p.P650T	p.P650T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	25	2155	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	650			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1948C>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681779	0.29872	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96651	-4.08;-4.08	5.82	4.9	0.64082	.	.	.	.	.	D	0.96959	0.9007	M	0.73217	2.22	0.09310	N	1	D	0.58268	0.982	P	0.57620	0.824	D	0.92373	0.5907	9	0.25106	T	0.35	.	14.3402	0.66619	0.0:0.2323:0.7677:0.0	.	650	P53420	CO4A4_HUMAN	T	650	ENSP00000379866:P650T;ENSP00000328553:P650T	ENSP00000328553:P650T	P	-	1	0	COL4A4	227650893	0.202000	0.23423	0.125000	0.21846	0.829000	0.46940	1.532000	0.36029	2.765000	0.95021	0.650000	0.86243	CCA		0.517	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		5	34	1	0	0.014758	1	0.0151668	5	34				
CYR61	3491	broad.mit.edu	37	1	86048138	86048138	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:86048138A>C	ENST00000451137.2	+	4	898	c.674A>C	c.(673-675)cAa>cCa	p.Q225P		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	225					anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AACCCTTTACAAGGCCAGAAA	0.463											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(673-675)cAa>cCa		cysteine-rich, angiogenic inducer, 61							86.0	82.0	84.0					1																	86048138		2203	4300	6503	SO:0001583	missense	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86048138A>C	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.674A>C	1.37:g.86048138A>C	ENSP00000398736:p.Gln225Pro		OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241		p.Q225P	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	4	898	+			225					O14934|O43775|Q9BZL7	Missense_Mutation	SNP	ENST00000451137.2	37	c.674A>C	CCDS706.1	.	.	.	.	.	.	.	.	.	.	A	9.514	1.106481	0.20632	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.80393	-1.37	6.08	4.93	0.64822	.	1.275670	0.04912	N	0.453460	T	0.49201	0.1543	N	0.08118	0	0.28888	N	0.894016	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	10	0.31617	T	0.26	-2.7274	13.3725	0.60721	0.8685:0.1315:0.0:0.0	.	225	O00622	CYR61_HUMAN	P	225;201;225	ENSP00000398736:Q225P	ENSP00000353612:Q225P	Q	+	2	0	CYR61	85820726	1.000000	0.71417	0.157000	0.22605	0.931000	0.56810	4.936000	0.63506	1.087000	0.41251	0.533000	0.62120	CAA		0.463	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		8	34	0	0	0	1	0	8	34				
UNC5A	90249	broad.mit.edu	37	5	176304651	176304651	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176304651C>A	ENST00000329542.4	+	10	1856	c.1582C>A	c.(1582-1584)Cct>Act	p.P528T	UNC5A_ENST00000261961.3_Missense_Mutation_p.P488T	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	528	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGCCCAGCCCTGACAGCTG	0.642																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1582-1584)Cct>Act		unc-5 homolog A (C. elegans)							39.0	36.0	37.0					5																	176304651		2203	4299	6502	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304651C>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1582C>A	5.37:g.176304651C>A	ENSP00000332737:p.Pro528Thr					UNC5A_ENST00000261961.3_Missense_Mutation_p.P488T	p.P528T	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1856	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	528			ZU5.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1582C>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409053	0.25378	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.40225	1.04;1.04	5.22	5.22	0.72569	ZU5 (3);	0.206716	0.43110	D	0.000613	T	0.36608	0.0973	L	0.28400	0.85	0.41099	D	0.985651	P	0.36183	0.542	B	0.42462	0.388	T	0.09552	-1.0669	10	0.15499	T	0.54	-27.6235	15.0986	0.72256	0.0:0.8577:0.1423:0.0	.	528	Q6ZN44	UNC5A_HUMAN	T	528;488	ENSP00000332737:P528T;ENSP00000261961:P488T	ENSP00000261961:P488T	P	+	1	0	UNC5A	176237257	1.000000	0.71417	0.973000	0.42090	0.877000	0.50540	2.828000	0.48120	2.446000	0.82766	0.305000	0.20034	CCT		0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		10	23	1	0	0.000442599	1	0.000475955	10	23				
ATP13A4	84239	broad.mit.edu	37	3	193188666	193188666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:193188666C>T	ENST00000342695.4	-	9	1247	c.925G>A	c.(925-927)Gat>Aat	p.D309N	ATP13A4_ENST00000295548.3_Missense_Mutation_p.D309N|ATP13A4_ENST00000392443.3_Missense_Mutation_p.D309N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	309						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGCCTTCATCCACCACACAG	0.532																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(925-927)Gat>Aat		ATPase type 13A4							166.0	134.0	145.0					3																	193188666		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193188666C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.925G>A	3.37:g.193188666C>T	ENSP00000339182:p.Asp309Asn					ATP13A4_ENST00000295548.3_Missense_Mutation_p.D309N|ATP13A4_ENST00000392443.3_Missense_Mutation_p.D309N	p.D309N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	9	1247	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		309					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.925G>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	2.434	-0.330256	0.05314	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.92348	-3.02;-3.02;-3.02	5.44	-1.23	0.09465	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.398462	0.25494	N	0.030298	T	0.69396	0.3106	N	0.00841	-1.15	0.25117	N	0.990679	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.64748	-0.6334	10	0.02654	T	1	-22.5527	10.6918	0.45875	0.0:0.3726:0.0:0.6274	.	309;309;309	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	N	309	ENSP00000376238:D309N;ENSP00000339182:D309N;ENSP00000295548:D309N	ENSP00000295548:D309N	D	-	1	0	ATP13A4	194671360	0.864000	0.29904	0.490000	0.27465	0.958000	0.62258	1.407000	0.34657	-0.172000	0.10779	-0.897000	0.02905	GAT		0.532	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		6	165	0	0	0	1	0	6	165				
FBXW11	23291	broad.mit.edu	37	5	171327026	171327026	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:171327026C>T	ENST00000265094.5	-	4	589	c.452G>A	c.(451-453)tGt>tAt	p.C151Y	FBXW11_ENST00000425623.2_Missense_Mutation_p.C119Y|FBXW11_ENST00000393802.2_Missense_Mutation_p.C117Y|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.C138Y	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	151	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCATTCTTTACATACCAGCTC	0.448																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(412-414)tGt>tAt		F-box and WD repeat domain containing 11							209.0	200.0	203.0					5																	171327026		2203	4299	6502	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171327026C>T	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.452G>A	5.37:g.171327026C>T	ENSP00000265094:p.Cys151Tyr					FBXW11_ENST00000425623.2_Missense_Mutation_p.C119Y|FBXW11_ENST00000265094.5_Missense_Mutation_p.C151Y|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.C117Y	p.C138Y	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	783	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	151			F-box.		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.413G>A	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513925	0.85389	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623;ENST00000517395	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	4.94	4.94	0.65067	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	H	0.96970	3.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.995;0.997;0.99	D	0.93328	0.6698	10	0.87932	D	0	-9.8128	18.1307	0.89600	0.0:1.0:0.0:0.0	.	119;117;151;138	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	Y	138;151;117;119;172	ENSP00000296933:C138Y;ENSP00000265094:C151Y;ENSP00000377391:C117Y;ENSP00000444929:C119Y;ENSP00000428753:C172Y	ENSP00000265094:C151Y	C	-	2	0	FBXW11	171259631	1.000000	0.71417	0.990000	0.47175	0.964000	0.63967	7.771000	0.85420	2.441000	0.82636	0.462000	0.41574	TGT		0.448	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		49	148	0	0	0	1	0	49	148				
NLRP2	55655	broad.mit.edu	37	19	55493831	55493831	+	Silent	SNP	G	G	C	rs151132029	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55493831G>C	ENST00000543010.1	+	6	908	c.765G>C	c.(763-765)ccG>ccC	p.P255P	NLRP2_ENST00000537859.1_Silent_p.P233P|NLRP2_ENST00000427260.2_Silent_p.P232P|NLRP2_ENST00000391721.4_Silent_p.P231P|NLRP2_ENST00000263437.6_Silent_p.P252P|NLRP2_ENST00000448584.2_Silent_p.P255P|NLRP2_ENST00000538819.1_Silent_p.P231P|NLRP2_ENST00000339757.7_Silent_p.P233P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	255	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTGGGCCCGTGCAGTTTTG	0.527																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(763-765)ccG>ccC		NLR family, pyrin domain containing 2							52.0	50.0	51.0					19																	55493831		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493831G>C	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.765G>C	19.37:g.55493831G>C						NLRP2_ENST00000538819.1_Silent_p.P231P|NLRP2_ENST00000263437.6_Silent_p.P252P|NLRP2_ENST00000448584.2_Silent_p.P255P|NLRP2_ENST00000427260.2_Silent_p.P232P|NLRP2_ENST00000537859.1_Silent_p.P233P|NLRP2_ENST00000339757.7_Silent_p.P233P|NLRP2_ENST00000391721.4_Silent_p.P231P	p.P255P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	908	+			255			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.765G>C	CCDS12913.1																																																																																				0.527	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		17	42	0	0	0	1	0	17	42				
NSMAF	8439	broad.mit.edu	37	8	59518528	59518528	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:59518528G>C	ENST00000038176.3	-	12	1038	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E	NSMAF_ENST00000427130.2_Missense_Mutation_p.Q307E|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	276					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCTCTATCTTGAGGTTCATAG	0.333																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(826-828)Caa>Gaa		neutral sphingomyelinase (N-SMase) activation associated factor							80.0	78.0	78.0					8																	59518528		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59518528G>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.826C>G	8.37:g.59518528G>C	ENSP00000038176:p.Gln276Glu					NSMAF_ENST00000427130.2_Missense_Mutation_p.Q307E|NSMAF_ENST00000519858.1_5'UTR	p.Q276E	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			12	1038	-		all_lung(136;0.174)|Lung NSC(129;0.2)	276					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.826C>G	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	8.819	0.937105	0.18206	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.52526	0.67;0.66	5.17	4.23	0.50019	BEACH domain (1);PH-BEACH domain (1);	0.318271	0.36167	N	0.002759	T	0.26231	0.0640	N	0.08118	0	0.35276	D	0.780926	B;B;B	0.24368	0.102;0.001;0.001	B;B;B	0.24541	0.054;0.003;0.003	T	0.26430	-1.0103	9	.	.	.	.	12.7596	0.57356	0.0:0.0:0.7143:0.2857	.	307;276;276	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	E	276;307	ENSP00000038176:Q276E;ENSP00000411012:Q307E	.	Q	-	1	0	NSMAF	59681082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.597000	0.46214	2.579000	0.87056	0.655000	0.94253	CAA		0.333	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		18	23	0	0	0	1	0	18	23				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	166	0	0	0	1	0	5	166				
AKAP10	11216	broad.mit.edu	37	17	19844263	19844263	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:19844263G>A	ENST00000225737.6	-	7	1279	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	AKAP10_ENST00000395536.3_Silent_p.T374T	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	374					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CAGTTCCACTGGTCAGCACTT	0.428																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1120-1122)acC>acT		A kinase (PRKA) anchor protein 10							80.0	76.0	77.0					17																	19844263		2203	4300	6503	SO:0001819	synonymous_variant	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19844263G>A	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1122C>T	17.37:g.19844263G>A						AKAP10_ENST00000395536.3_Silent_p.T374T	p.T374T	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			7	1279	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		374					B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	c.1122C>T	CCDS11214.1																																																																																				0.428	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		15	29	0	0	0	1	0	15	29				
POM121L12	285877	broad.mit.edu	37	7	53103925	53103925	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:53103925G>T	ENST00000408890.4	+	1	577	c.561G>T	c.(559-561)aaG>aaT	p.K187N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	187										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGTGCCCCAAGGGAAGCGCTA	0.711																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(559-561)aaG>aaT		POM121 transmembrane nucleoporin-like 12							39.0	45.0	43.0					7																	53103925		1930	4124	6054	SO:0001583	missense	285877							g.chr7:53103925G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.561G>T	7.37:g.53103925G>T	ENSP00000386133:p.Lys187Asn						p.K187N	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	577	+			187					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.561G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	g	11.74	1.728851	0.30684	.	.	ENSG00000221900	ENST00000408890	T	0.13089	2.62	2.21	-4.1	0.03940	.	.	.	.	.	T	0.14485	0.0350	L	0.49778	1.585	0.09310	N	1	P	0.44734	0.842	P	0.47981	0.563	T	0.08452	-1.0721	9	0.87932	D	0	.	4.0543	0.09810	0.5673:0.0:0.2532:0.1795	.	187	Q8N7R1	P1L12_HUMAN	N	187	ENSP00000386133:K187N	ENSP00000386133:K187N	K	+	3	2	POM121L12	53071419	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.560000	0.02160	-1.266000	0.02446	-1.163000	0.01768	AAG		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		23	81	1	0	2.89027e-11	1	3.67222e-11	23	81				
FCRL2	79368	broad.mit.edu	37	1	157739803	157739803	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:157739803G>T	ENST00000361516.3	-	4	496	c.448C>A	c.(448-450)Cag>Aag	p.Q150K	FCRL2_ENST00000392274.3_Missense_Mutation_p.Q150K|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	150	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCAGGACCTGGTTTTCTCTG	0.567																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(448-450)Cag>Aag		Fc receptor-like 2							57.0	63.0	61.0					1																	157739803		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157739803G>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.448C>A	1.37:g.157739803G>T	ENSP00000355157:p.Gln150Lys					FCRL2_ENST00000392274.3_Missense_Mutation_p.Q150K|FCRL2_ENST00000368181.4_Intron	p.Q150K	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	496	-	all_hematologic(112;0.0378)		150			Ig-like C2-type 2.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.448C>A	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	8.273	0.813820	0.16537	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.03301	3.98;3.98	4.05	-0.389	0.12455	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.843820	0.02567	N	0.097409	T	0.00815	0.0027	N	0.26042	0.785	0.09310	N	1	B;B;B	0.33637	0.132;0.073;0.42	B;B;B	0.36289	0.159;0.105;0.221	T	0.43310	-0.9399	10	0.09590	T	0.72	.	3.5182	0.07732	0.2198:0.0:0.3401:0.4401	.	150;150;150	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	K	150	ENSP00000355157:Q150K;ENSP00000376100:Q150K	ENSP00000355157:Q150K	Q	-	1	0	FCRL2	156006427	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.960000	0.03849	-0.061000	0.13110	-0.293000	0.09583	CAG		0.567	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		4	64	1	0	0.00909568	1	0.00947892	4	64				
ALMS1	7840	broad.mit.edu	37	2	73675171	73675171	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:73675171A>C	ENST00000264448.6	+	8	1625	c.1514A>C	c.(1513-1515)gAc>gCc	p.D505A	ALMS1_ENST00000409009.1_Missense_Mutation_p.D463A|ALMS1_ENST00000377715.1_Missense_Mutation_p.D505A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	505					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTTGATTCAGACATTGGATCT	0.413																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(1513-1515)gAc>gCc		Alstrom syndrome 1							129.0	116.0	120.0					2																	73675171		1934	4123	6057	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675171A>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1514A>C	2.37:g.73675171A>C	ENSP00000264448:p.Asp505Ala					ALMS1_ENST00000377715.1_Missense_Mutation_p.D505A|ALMS1_ENST00000409009.1_Missense_Mutation_p.D463A	p.D505A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	1625	+			505					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.1514A>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250182	0.39797	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16897	3.2;3.2;2.31	3.99	1.56	0.23342	.	0.379431	0.19290	N	0.117908	T	0.11067	0.0270	L	0.36672	1.1	0.23063	N	0.998356	P;P	0.42203	0.773;0.773	B;B	0.38428	0.273;0.273	T	0.16129	-1.0413	10	0.56958	D	0.05	.	4.1333	0.10159	0.6811:0.2095:0.1095:0.0	.	463;505	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	A	463;505;505	ENSP00000386627:D463A;ENSP00000264448:D505A;ENSP00000366944:D505A	ENSP00000264448:D505A	D	+	2	0	ALMS1	73528679	0.959000	0.32827	0.649000	0.29536	0.419000	0.31324	2.116000	0.41930	0.335000	0.23614	0.533000	0.62120	GAC		0.413	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		25	66	0	0	0	1	0	25	66				
TWISTNB	221830	broad.mit.edu	37	7	19744535	19744535	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:19744535C>A	ENST00000222567.5	-	2	333	c.263G>T	c.(262-264)gGt>gTt	p.G88V	MIR3146_ENST00000580367.1_RNA	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	88					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AATAGGGACACCTAAAAGGCT	0.348																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(262-264)gGt>gTt		TWIST neighbor							73.0	74.0	73.0					7																	19744535		2203	4300	6503	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19744535C>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.263G>T	7.37:g.19744535C>A	ENSP00000222567:p.Gly88Val						p.G88V	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			2	333	-			88					A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.263G>T	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686973	0.88639	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.63	5.63	0.86233	RNA polymerase Rpb7, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85552	0.1222	9	0.87932	D	0	-22.2471	20.0572	0.97657	0.0:1.0:0.0:0.0	.	88	Q3B726	RPA43_HUMAN	V	88	.	ENSP00000222567:G88V	G	-	2	0	TWISTNB	19711060	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.118000	0.77137	2.826000	0.97356	0.655000	0.94253	GGT		0.348	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			10	39	1	0	1.33987e-11	1	1.71411e-11	10	39				
DGKG	1608	broad.mit.edu	37	3	186024695	186024695	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:186024695G>A	ENST00000265022.3	-	3	678	c.139C>T	c.(139-141)Cat>Tat	p.H47Y	DGKG_ENST00000344484.4_Missense_Mutation_p.H47Y|DGKG_ENST00000382164.4_Missense_Mutation_p.H47Y|DGKG_ENST00000544847.1_Missense_Mutation_p.H47Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	47					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTTACCTCATGTGGGTCATAT	0.398																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(139-141)Cat>Tat		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						156.0	156.0	156.0					3																	186024695		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186024695G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.139C>T	3.37:g.186024695G>A	ENSP00000265022:p.His47Tyr					DGKG_ENST00000344484.4_Missense_Mutation_p.H47Y|DGKG_ENST00000544847.1_Missense_Mutation_p.H47Y|DGKG_ENST00000382164.4_Missense_Mutation_p.H47Y	p.H47Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	3	678	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		47					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.139C>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169177	0.38315	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.64	3.67	0.42095	.	0.497548	0.18982	N	0.125851	T	0.40909	0.1136	L	0.40543	1.245	0.25362	N	0.988773	B;B;D;B	0.53312	0.029;0.067;0.959;0.037	B;B;P;B	0.49999	0.095;0.15;0.628;0.053	T	0.19778	-1.0295	10	0.49607	T	0.09	.	9.9757	0.41781	0.0:0.2064:0.7936:0.0	.	47;47;47;47	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	Y	47;47;47;47;50	ENSP00000265022:H47Y;ENSP00000339777:H47Y;ENSP00000371599:H47Y;ENSP00000440507:H47Y	ENSP00000265022:H47Y	H	-	1	0	DGKG	187507389	0.996000	0.38824	1.000000	0.80357	0.888000	0.51559	2.876000	0.48498	2.509000	0.84616	0.544000	0.68410	CAT		0.398	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			31	35	0	0	0	1	0	31	35				
MYO18A	399687	broad.mit.edu	37	17	27421764	27421764	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:27421764G>A	ENST00000527372.1	-	30	4794	c.4614C>T	c.(4612-4614)gcC>gcT	p.A1538A	MYO18A_ENST00000533112.1_Silent_p.A1538A|MYO18A_ENST00000531253.1_Silent_p.A1538A|MYO18A_ENST00000354329.4_Silent_p.A1538A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1538					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTTGACCTTGGCCAGAGAAG	0.537																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4612-4614)gcC>gcT		myosin XVIIIA							143.0	139.0	140.0					17																	27421764		1965	4173	6138	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27421764G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4614C>T	17.37:g.27421764G>A						MYO18A_ENST00000533112.1_Silent_p.A1538A|MYO18A_ENST00000531253.1_Silent_p.A1538A|MYO18A_ENST00000354329.4_Silent_p.A1538A	p.A1538A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		30	4794	-			1538					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.4614C>T	CCDS45642.1																																																																																				0.537	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		20	91	0	0	0	1	0	20	91				
DICER1	23405	broad.mit.edu	37	14	95574010	95574010	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:95574010C>G	ENST00000526495.1	-	19	3030	c.2739G>C	c.(2737-2739)aaG>aaC	p.K913N	DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000541352.1_Missense_Mutation_p.K913N|DICER1_ENST00000393063.1_Missense_Mutation_p.K913N|DICER1_ENST00000527414.1_Missense_Mutation_p.K913N|DICER1_ENST00000343455.3_Missense_Mutation_p.K913N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	913	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTTTGTATACTTTGTACTGG	0.348			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(2737-2739)aaG>aaC		dicer 1, ribonuclease type III							96.0	100.0	99.0					14																	95574010		2203	4299	6502	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95574010C>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2739G>C	14.37:g.95574010C>G	ENSP00000437256:p.Lys913Asn					DICER1_ENST00000343455.3_Missense_Mutation_p.K913N|DICER1_ENST00000527414.1_Missense_Mutation_p.K913N|DICER1_ENST00000541352.1_Missense_Mutation_p.K913N|DICER1_ENST00000393063.1_Missense_Mutation_p.K913N	p.K913N			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	19	3030	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	913			PAZ.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.2739G>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098369	0.37048	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.86	1.7	0.24286	Argonaute/Dicer protein, PAZ (3);	0.097906	0.64402	D	0.000001	T	0.12305	0.0299	L	0.29908	0.895	0.42758	D	0.993793	B	0.12013	0.005	B	0.17979	0.02	T	0.14200	-1.0481	10	0.17832	T	0.49	-34.7138	13.7903	0.63135	0.0:0.7657:0.0:0.2343	.	913	Q9UPY3	DICER_HUMAN	N	913	ENSP00000343745:K913N;ENSP00000437256:K913N;ENSP00000376783:K913N;ENSP00000435681:K913N;ENSP00000444719:K913N	ENSP00000343745:K913N	K	-	3	2	DICER1	94643763	0.998000	0.40836	0.994000	0.49952	0.927000	0.56198	0.743000	0.26231	-0.077000	0.12752	-0.813000	0.03139	AAG		0.348	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			24	52	0	0	0	1	0	24	52				
MAGI2	9863	broad.mit.edu	37	7	77764436	77764436	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:77764436A>T	ENST00000354212.4	-	17	3186	c.2933T>A	c.(2932-2934)gTg>gAg	p.V978E	MAGI2_ENST00000522391.1_Missense_Mutation_p.V978E|MAGI2_ENST00000419488.1_Missense_Mutation_p.V964E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	978	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGCCATTCACTGCTAGGAT	0.502																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2932-2934)gTg>gAg		membrane associated guanylate kinase, WW and PDZ domain containing 2							248.0	195.0	213.0					7																	77764436		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764436A>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2933T>A	7.37:g.77764436A>T	ENSP00000346151:p.Val978Glu					MAGI2_ENST00000522391.1_Missense_Mutation_p.V978E|MAGI2_ENST00000419488.1_Missense_Mutation_p.V964E	p.V978E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			17	3186	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	978			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2933T>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003867	0.93287	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.39787	1.06;1.06;1.06	5.97	5.97	0.96955	PDZ/DHR/GLGF (4);	0.000000	0.32987	U	0.005414	T	0.77032	0.4071	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.97110	0.999;1.0;0.998	D	0.85204	0.1017	10	0.87932	D	0	.	16.4383	0.83889	1.0:0.0:0.0:0.0	.	978;964;978	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	E	964;978;978;978	ENSP00000405766:V964E;ENSP00000346151:V978E;ENSP00000428389:V978E	ENSP00000346151:V978E	V	-	2	0	MAGI2	77602372	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.339000	0.96797	2.287000	0.76781	0.482000	0.46254	GTG		0.502	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		27	69	0	0	0	1	0	27	69				
DDX27	55661	broad.mit.edu	37	20	47839824	47839824	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:47839824G>A	ENST00000371764.4	+	4	422	c.413G>A	c.(412-414)gGg>gAg	p.G138E	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	138	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAAGTCTGGGAAGTTGGAA	0.453																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(412-414)gGg>gAg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							68.0	67.0	67.0					20																	47839824		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47839824G>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.413G>A	20.37:g.47839824G>A	ENSP00000360828:p.Gly138Glu					DDX27_ENST00000484427.1_3'UTR	p.G138E	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		4	422	+			138			Asp/Glu/Lys-rich.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.413G>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	3.231	-0.157509	0.06544	.	.	ENSG00000124228	ENST00000371764	T	0.01369	4.97	6.17	3.23	0.37069	.	0.255682	0.46442	D	0.000285	T	0.01189	0.0039	L	0.36672	1.1	0.32553	N	0.532132	B	0.18863	0.031	B	0.11329	0.006	T	0.36480	-0.9746	10	0.02654	T	1	-20.4163	8.2777	0.31881	0.2989:0.0:0.7011:0.0	.	138	Q96GQ7	DDX27_HUMAN	E	138	ENSP00000360828:G138E	ENSP00000360828:G138E	G	+	2	0	DDX27	47273231	0.906000	0.30813	0.993000	0.49108	0.021000	0.10359	0.453000	0.21811	0.504000	0.28082	-0.793000	0.03317	GGG		0.453	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			20	41	0	0	0	1	0	20	41				
LRRC14	9684	broad.mit.edu	37	8	145742066	145742066	+	5'Flank	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:145742066C>A	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Missense_Mutation_p.G146V|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGGGACAGGCCCTGTACCTGG	0.642																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(436-438)gGg>gTg	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							34.0	39.0	37.0					8																	145742066		1952	4132	6084	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145742066C>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742066C>A	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.G146V	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	478	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		146					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.437G>T	CCDS6432.1																																																																																				0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		14	29	1	0	0.146539	1	0.148541	14	29				
ZBTB7A	51341	broad.mit.edu	37	19	4054047	4054047	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:4054047C>T	ENST00000322357.4	-	2	1462	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.G395D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	395					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAGCTTGCCGGCGCCCTG	0.657																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(1183-1185)gGc>gAc		zinc finger and BTB domain containing 7A							59.0	56.0	57.0					19																	4054047		2203	4300	6503	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054047C>T	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1184G>A	19.37:g.4054047C>T	ENSP00000323670:p.Gly395Asp					ZBTB7A_ENST00000601588.1_Missense_Mutation_p.G395D	p.G395D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1462	-		Hepatocellular(1079;0.137)	395					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1184G>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184101	0.78677	.	.	ENSG00000178951	ENST00000322357	T	0.07216	3.21	5.03	5.03	0.67393	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.01235	-1.1410	10	0.72032	D	0.01	.	16.9262	0.86177	0.0:1.0:0.0:0.0	.	395	O95365	ZBT7A_HUMAN	D	395	ENSP00000323670:G395D	ENSP00000323670:G395D	G	-	2	0	ZBTB7A	4005047	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.985000	0.70556	2.336000	0.79503	0.462000	0.41574	GGC		0.657	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		4	57	0	0	0	1	0	4	57				
OR5AS1	219447	broad.mit.edu	37	11	55798181	55798181	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55798181G>C	ENST00000313555.1	+	1	287	c.287G>C	c.(286-288)gGg>gCg	p.G96A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTCCTTATGGGTGTGCACTA	0.448																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(286-288)gGg>gCg		olfactory receptor, family 5, subfamily AS, member 1							93.0	81.0	85.0					11																	55798181		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798181G>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.287G>C	11.37:g.55798181G>C	ENSP00000324111:p.Gly96Ala						p.G96A	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	287	+	Esophageal squamous(21;0.00693)		96					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.287G>C	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	1.475	-0.558858	0.03967	.	.	ENSG00000181785	ENST00000313555	T	0.09255	3.0	5.46	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35067	U	0.003465	T	0.08935	0.0221	L	0.52206	1.635	0.09310	N	1	B	0.33857	0.429	B	0.27608	0.081	T	0.27088	-1.0084	10	0.14656	T	0.56	.	9.6365	0.39811	0.1614:0.0:0.8386:0.0	.	96	Q8N127	O5AS1_HUMAN	A	96	ENSP00000324111:G96A	ENSP00000324111:G96A	G	+	2	0	OR5AS1	55554757	0.070000	0.21116	0.043000	0.18650	0.004000	0.04260	0.576000	0.23744	1.314000	0.45095	-0.135000	0.14842	GGG		0.448	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		9	26	0	0	0	1	0	9	26				
PLCL2	23228	broad.mit.edu	37	3	17052278	17052278	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:17052278T>A	ENST00000418129.2	+	2	1527	c.1062T>A	c.(1060-1062)aaT>aaA	p.N354K	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.N354K|PLCL2_ENST00000396755.2_Missense_Mutation_p.N354K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	480					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGCCGGACAATGAACCTGTAA	0.438																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(1060-1062)aaT>aaA		phospholipase C-like 2							120.0	110.0	113.0					3																	17052278		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052278T>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1062T>A	3.37:g.17052278T>A	ENSP00000409637:p.Asn354Lys					PLCL2_ENST00000432376.1_Missense_Mutation_p.N354K|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.N354K	p.N354K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	1527	+			480					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1062T>A	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.65|11.65	1.702148|1.702148	0.30232|0.30232	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.53640	.|0.61;0.61;0.61	5.96|5.96	-7.14|-7.14	0.01527|0.01527	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.184745	.|0.56097	.|D	.|0.000027	T|T	0.32675|0.32675	0.0837|0.0837	.|.	.|.	.|.	0.46586|0.46586	D|D	0.999114|0.999114	.|B	.|0.23249	.|0.082	.|B	.|0.27608	.|0.081	T|T	0.04128|0.04128	-1.0975|-1.0975	4|9	.|0.23891	.|T	.|0.37	.|.	16.3852|16.3852	0.83502|0.83502	0.0:0.5602:0.0:0.4398|0.0:0.5602:0.0:0.4398	.|.	.|480	.|Q9UPR0	.|PLCL2_HUMAN	K|K	98|354;481;354;354	.|ENSP00000409637:N354K;ENSP00000379979:N354K;ENSP00000412836:N354K	.|ENSP00000285094:N481K	M|N	+|+	2|3	0|2	PLCL2|PLCL2	17027282|17027282	0.005000|0.005000	0.15991|0.15991	0.110000|0.110000	0.21437|0.21437	0.853000|0.853000	0.48598|0.48598	-1.112000|-1.112000	0.03299|0.03299	-1.350000|-1.350000	0.02199|0.02199	-0.250000|-0.250000	0.11733|0.11733	ATG|AAT		0.438	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			16	37	0	0	0	1	0	16	37				
TENM1	10178	broad.mit.edu	37	X	123615799	123615799	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:123615799G>T	ENST00000371130.3	-	21	3774	c.3711C>A	c.(3709-3711)caC>caA	p.H1237Q	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.H1244Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1237					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GATAGTATTTGTGAGCAGGAC	0.408																																						ENST00000422452.2																			0											c.(3730-3732)caC>caA		teneurin transmembrane protein 1							96.0	85.0	89.0					X																	123615799		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123615799G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3711C>A	X.37:g.123615799G>T	ENSP00000360171:p.His1237Gln					TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.H1237Q	p.H1244Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					22	3795	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3732C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390649	0.62066	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90004	-2.6;-2.6	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91338	0.7268	L	0.42686	1.345	0.58432	D	0.999995	D;B;P	0.71674	0.998;0.296;0.604	D;B;B	0.75484	0.986;0.13;0.204	D	0.91903	0.5533	10	0.87932	D	0	.	11.5736	0.50848	0.0959:0.0:0.9041:0.0	.	1243;1244;1237	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	1237;1244	ENSP00000360171:H1237Q;ENSP00000403954:H1244Q	ENSP00000360171:H1237Q	H	-	3	2	ODZ1	123443480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.963000	0.49184	2.128000	0.65567	0.600000	0.82982	CAC		0.408	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		9	32	1	0	2.74318e-10	1	3.43824e-10	9	32				
OR6K2	81448	broad.mit.edu	37	1	158669774	158669774	+	Silent	SNP	C	C	A	rs144922102|rs574102205	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:158669774C>A	ENST00000359610.2	-	1	712	c.669G>T	c.(667-669)gtG>gtT	p.V223V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAATTACAGCCACAATACCAT	0.463																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(667-669)gtG>gtT		olfactory receptor, family 6, subfamily K, member 2							133.0	110.0	118.0					1																	158669774		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669774C>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.669G>T	1.37:g.158669774C>A							p.V223V	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	712	-	all_hematologic(112;0.0378)		223					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.669G>T	CCDS30902.1																																																																																				0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		23	56	1	0	3.10358e-05	1	3.42687e-05	23	56				
SCN2A	6326	broad.mit.edu	37	2	166229801	166229801	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:166229801A>G	ENST00000375437.2	+	21	4206	c.3916A>G	c.(3916-3918)Aga>Gga	p.R1306G	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1306G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1306G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1306G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1306					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAATCCCTCAGAACACTAAG	0.413																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3916-3918)Aga>Gga		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						151.0	150.0	150.0					2																	166229801		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166229801A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3916A>G	2.37:g.166229801A>G	ENSP00000364586:p.Arg1306Gly					SCN2A_ENST00000375427.2_Missense_Mutation_p.R1306G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1306G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1306G	p.R1306G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			21	4206	+			1306					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3916A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447615	0.84101	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	5.87	1.84	0.25277	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99429	0.9798	H	0.99770	4.765	0.53688	D	0.999976	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.998	D	0.98296	1.0516	10	0.87932	D	0	.	13.6795	0.62474	0.6275:0.3725:0.0:0.0	.	1306;1306	Q99250-2;Q99250	.;SCN2A_HUMAN	G	1306	ENSP00000364586:R1306G;ENSP00000349973:R1306G;ENSP00000283256:R1306G;ENSP00000364576:R1306G	ENSP00000283256:R1306G	R	+	1	2	SCN2A	165938047	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.578000	0.53892	0.523000	0.28482	0.533000	0.62120	AGA		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		18	83	0	0	0	1	0	18	83				
NSD1	64324	broad.mit.edu	37	5	176709482	176709482	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176709482A>C	ENST00000439151.2	+	19	5954	c.5909A>C	c.(5908-5910)gAg>gCg	p.E1970A	NSD1_ENST00000347982.4_Missense_Mutation_p.E1701A|NSD1_ENST00000354179.4_Missense_Mutation_p.E1701A|NSD1_ENST00000361032.4_Missense_Mutation_p.E1867A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1970	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGTGAATGAGTATGTGGGT	0.343			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5908-5910)gAg>gCg		nuclear receptor binding SET domain protein 1							205.0	206.0	205.0					5																	176709482		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176709482A>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5909A>C	5.37:g.176709482A>C	ENSP00000395929:p.Glu1970Ala	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.E1867A|NSD1_ENST00000347982.4_Missense_Mutation_p.E1701A|NSD1_ENST00000354179.4_Missense_Mutation_p.E1701A	p.E1970A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	19	5954	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1970			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5909A>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.929030	0.92389	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.77	5.77	0.91146	SET domain (3);	0.000000	0.64402	D	0.000012	D	0.97626	0.9222	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.97110	1.0;0.984	D	0.99029	1.0820	10	0.87932	D	0	.	16.0562	0.80809	1.0:0.0:0.0:0.0	.	1701;1970	Q96L73-2;Q96L73	.;NSD1_HUMAN	A	1701;1970;1701;1867	ENSP00000346111:E1701A;ENSP00000395929:E1970A;ENSP00000343209:E1701A;ENSP00000354310:E1867A	ENSP00000343209:E1701A	E	+	2	0	NSD1	176642088	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.331000	0.96430	2.326000	0.78906	0.533000	0.62120	GAG		0.343	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		29	123	0	0	0	1	0	29	123				
OR2M2	391194	broad.mit.edu	37	1	248344017	248344017	+	Missense_Mutation	SNP	C	C	T	rs561993914		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:248344017C>T	ENST00000359682.2	+	1	730	c.730C>T	c.(730-732)Cac>Tac	p.H244Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTTCCTCTCACCTCATGGT	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20851	0.0		0.0	False		,,,				2504	0.0					ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(730-732)Cac>Tac		olfactory receptor, family 2, subfamily M, member 2							217.0	194.0	201.0					1																	248344017		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344017C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.730C>T	1.37:g.248344017C>T	ENSP00000352710:p.His244Tyr						p.H244Y	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	730	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		244					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.730C>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	16.47	3.132819	0.56828	.	.	ENSG00000198601	ENST00000359682	T	0.00314	8.14	2.03	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32218	U	0.006409	T	0.01092	0.0036	H	0.97874	4.095	0.31325	N	0.68558	D	0.89917	1.0	D	0.79784	0.993	T	0.02104	-1.1213	10	0.87932	D	0	.	11.9796	0.53113	0.0:1.0:0.0:0.0	.	244	Q96R28	OR2M2_HUMAN	Y	244	ENSP00000352710:H244Y	ENSP00000352710:H244Y	H	+	1	0	OR2M2	246410640	0.991000	0.36638	0.005000	0.12908	0.005000	0.04900	3.875000	0.56108	1.152000	0.42452	0.454000	0.30748	CAC		0.483	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		36	136	0	0	0	1	0	36	136				
SH3BP4	23677	broad.mit.edu	37	2	235951012	235951012	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:235951012G>T	ENST00000409212.1	+	4	2106	c.1599G>T	c.(1597-1599)agG>agT	p.R533S	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R533S|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R533S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	533					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTTTGTCCAGGCCCCAGGATC	0.592																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1597-1599)agG>agT		SH3-domain binding protein 4							69.0	71.0	70.0					2																	235951012		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951012G>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1599G>T	2.37:g.235951012G>T	ENSP00000386862:p.Arg533Ser					SH3BP4_ENST00000344528.4_Missense_Mutation_p.R533S|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R533S	p.R533S			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2106	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	533					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1599G>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	4.857	0.159391	0.09236	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.10573	2.86;2.86;2.86	4.97	3.15	0.36227	.	0.277528	0.40469	N	0.001093	T	0.11707	0.0285	L	0.55481	1.735	0.46564	D	0.9991	B;B	0.18013	0.025;0.025	B;B	0.18561	0.022;0.022	T	0.04767	-1.0928	10	0.72032	D	0.01	-41.78	9.2564	0.37586	0.0813:0.1463:0.7724:0.0	.	533;533	A8K594;Q9P0V3	.;SH3B4_HUMAN	S	533	ENSP00000375867:R533S;ENSP00000386862:R533S;ENSP00000340237:R533S	ENSP00000340237:R533S	R	+	3	2	SH3BP4	235615751	0.976000	0.34144	0.920000	0.36463	0.066000	0.16364	1.824000	0.39072	0.488000	0.27723	-0.274000	0.10170	AGG		0.592	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			30	73	1	0	1.7881e-09	1	2.21129e-09	30	73				
NEGR1	257194	broad.mit.edu	37	1	72748143	72748143	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:72748143C>A	ENST00000357731.5	-	1	274	c.35G>T	c.(34-36)tGc>tTc	p.C12F	NEGR1_ENST00000434200.1_Missense_Mutation_p.C10F	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	12					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTGGTTCGAGCAACAAGCACC	0.662																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(34-36)tGc>tTc		neuronal growth regulator 1							92.0	73.0	79.0					1																	72748143		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72748143C>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.35G>T	1.37:g.72748143C>A	ENSP00000350364:p.Cys12Phe					NEGR1_ENST00000434200.1_Missense_Mutation_p.C10F	p.C12F	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	1	274	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	12					Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.35G>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667165	0.47677	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.72051	0.66;-0.62	5.25	5.25	0.73442	.	0.123452	0.53938	D	0.000043	T	0.40743	0.1129	N	0.14661	0.345	0.35741	D	0.818708	B;B	0.30824	0.296;0.261	B;B	0.20577	0.022;0.03	T	0.53844	-0.8381	10	0.66056	D	0.02	-7.0994	16.3288	0.82997	0.0:1.0:0.0:0.0	.	10;12	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	F	12;10	ENSP00000350364:C12F;ENSP00000413294:C10F	ENSP00000350364:C12F	C	-	2	0	NEGR1	72520731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.114000	0.64648	2.457000	0.83068	0.561000	0.74099	TGC		0.662	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		14	47	1	0	2.62699e-14	1	3.5058e-14	14	47				
GAK	2580	broad.mit.edu	37	4	887730	887730	+	Missense_Mutation	SNP	C	C	A	rs144664799		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:887730C>A	ENST00000314167.4	-	8	919	c.809G>T	c.(808-810)cGa>cTa	p.R270L	GAK_ENST00000511163.1_Missense_Mutation_p.R191L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATTGACTATTCGAAGTTTCGC	0.607																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(808-810)cGa>cTa		cyclin G associated kinase							109.0	75.0	86.0					4																	887730		2201	4299	6500	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:887730C>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.809G>T	4.37:g.887730C>A	ENSP00000314499:p.Arg270Leu					GAK_ENST00000511163.1_Missense_Mutation_p.R191L	p.R270L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	8	919	-			270			Protein kinase.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.809G>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924050	0.92319	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.65732	-0.17;-0.17	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120472	0.64402	D	0.000019	T	0.67021	0.2849	N	0.21508	0.67	0.58432	D	0.999998	D;P;D;D	0.64830	0.994;0.909;0.979;0.99	D;P;P;D	0.66979	0.948;0.738;0.855;0.935	T	0.71563	-0.4555	10	0.66056	D	0.02	-19.0824	15.7059	0.77580	0.0:1.0:0.0:0.0	.	191;191;270;166	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	L	270;191	ENSP00000314499:R270L;ENSP00000421361:R191L	ENSP00000314499:R270L	R	-	2	0	GAK	877730	0.999000	0.42202	0.575000	0.28536	0.979000	0.70002	4.057000	0.57455	2.291000	0.77112	0.563000	0.77884	CGA		0.607	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		11	32	1	0	6.40141e-05	1	6.94422e-05	11	32				
IGSF9B	22997	broad.mit.edu	37	11	133801614	133801614	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:133801614G>T	ENST00000321016.8	-	9	1417	c.1187C>A	c.(1186-1188)aCc>aAc	p.T396N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T396N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	396	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCACACAGGTATAAGTGCC	0.592																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1186-1188)aCc>aAc		immunoglobulin superfamily, member 9B							42.0	48.0	46.0					11																	133801614		2027	4181	6208	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133801614G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1187C>A	11.37:g.133801614G>T	ENSP00000317980:p.Thr396Asn					IGSF9B_ENST00000533871.2_Missense_Mutation_p.T396N	p.T396N			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	9	1417	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	396			Ig-like 4.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1187C>A		.	.	.	.	.	.	.	.	.	.	G	28.1	4.895071	0.91962	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.16324	2.35;2.35;2.35	5.21	5.21	0.72293	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50274	0.1606	M	0.89287	3.02	0.58432	D	0.999999	D	0.63046	0.992	D	0.70487	0.969	T	0.60444	-0.7262	9	0.87932	D	0	.	18.767	0.91878	0.0:0.0:1.0:0.0	.	396	Q9UPX0	TUTLB_HUMAN	N	396;238;396	ENSP00000317980:T396N;ENSP00000436552:T238N;ENSP00000436576:T396N	ENSP00000317980:T396N	T	-	2	0	IGSF9B	133306824	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	7.625000	0.83145	2.423000	0.82170	0.543000	0.68304	ACC		0.592	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		11	18	1	0	3.07112e-06	1	3.48436e-06	11	18				
ANK2	287	broad.mit.edu	37	4	114254292	114254292	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:114254292G>T	ENST00000357077.4	+	29	3360	c.3307G>T	c.(3307-3309)Gac>Tac	p.D1103Y	ANK2_ENST00000506722.1_Missense_Mutation_p.D1094Y|ANK2_ENST00000394537.3_Missense_Mutation_p.D1103Y|ANK2_ENST00000264366.6_Missense_Mutation_p.D1070Y|ANK2_ENST00000509550.1_Missense_Mutation_p.D279Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1103	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAGAATGGGGACAGCTGGAA	0.468																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(3307-3309)Gac>Tac		ankyrin 2, neuronal							175.0	163.0	167.0					4																	114254292		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114254292G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3307G>T	4.37:g.114254292G>T	ENSP00000349588:p.Asp1103Tyr					ANK2_ENST00000264366.6_Missense_Mutation_p.D1070Y|ANK2_ENST00000506722.1_Missense_Mutation_p.D1094Y|ANK2_ENST00000394537.3_Missense_Mutation_p.D1103Y|ANK2_ENST00000509550.1_Missense_Mutation_p.D279Y	p.D1103Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	29	3360	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1070			Interaction with SPTBN1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3307G>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.351733|4.351733	0.82132|0.82132	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;T;T;T;T|T	0.76186|0.46819	-0.18;-0.04;-0.24;-0.16;-0.21;-0.31;-0.31;-1.0|0.86	5.33|5.33	5.33|5.33	0.75918|0.75918	ZU5 (2);|.	0.000000|.	0.53938|.	D|.	0.000046|.	T|T	0.54806|0.54806	0.1881|0.1881	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.991;1.0;0.991;0.994|.	D;D;D;D;D;P;D|.	0.85130|.	0.976;0.997;0.975;0.967;0.996;0.904;0.991|.	T|T	0.57359|0.57359	-0.7825|-0.7825	10|7	0.87932|0.87932	D|D	0|0	.|.	19.3667|19.3667	0.94466|0.94466	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	279;1070;115;1103;1103;1094;1094|.	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;ANK2_HUMAN;.;.;.;.;.|.	Y|V	1082;1016;1094;149;1118;1103;1103;1070;1094;279|115	ENSP00000423799:D1082Y;ENSP00000421011:D1016Y;ENSP00000421067:D1094Y;ENSP00000424722:D1118Y;ENSP00000378044:D1103Y;ENSP00000349588:D1103Y;ENSP00000264366:D1070Y;ENSP00000426944:D279Y|ENSP00000422853:G115V	ENSP00000264366:D1070Y|ENSP00000422853:G115V	D|G	+|+	1|2	0|0	ANK2|ANK2	114473741|114473741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.813000|9.813000	0.99286|0.99286	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		27	64	1	0	4.59853e-10	1	5.72501e-10	27	64				
RPLP0P6	220717	broad.mit.edu	37	2	38709170	38709170	+	lincRNA	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:38709170A>G	ENST00000417039.1	-	0	696																											CAAGAACACCATGATGCGCAA	0.557																																						ENST00000417039.1																			0																																																			220717							g.chr2:38709170A>G																													2.37:g.38709170A>G														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.557	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			11	77	0	0	0	1	0	11	77				
FAM50B	26240	broad.mit.edu	37	6	3850791	3850791	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:3850791C>T	ENST00000380274.1	+	1	1172	c.746C>T	c.(745-747)aCc>aTc	p.T249I	FAM50B_ENST00000380272.3_Missense_Mutation_p.T249I			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	249						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CACTACCACACCTTCTACGAC	0.642																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(745-747)aCc>aTc		family with sequence similarity 50, member B							74.0	63.0	67.0					6																	3850791		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850791C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.746C>T	6.37:g.3850791C>T	ENSP00000369627:p.Thr249Ile					FAM50B_ENST00000380272.3_Missense_Mutation_p.T249I	p.T249I			Q9Y247	FA50B_HUMAN			1	1172	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	249					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.746C>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461193	0.63513	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.34	-1.44	0.08856	.	0.048746	0.85682	D	0.000000	T	0.73916	0.3648	M	0.87827	2.91	0.33096	D	0.538601	D	0.71674	0.998	D	0.74674	0.984	T	0.81549	-0.0882	9	0.72032	D	0.01	-33.3519	17.9416	0.89027	0.0:0.2306:0.7694:0.0	.	249	Q9Y247	FA50B_HUMAN	I	249	.	ENSP00000369625:T249I	T	+	2	0	FAM50B	3795790	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.234000	0.51320	-0.073000	0.12842	0.555000	0.69702	ACC		0.642	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		10	57	0	0	0	1	0	10	57				
DIP2C	22982	broad.mit.edu	37	10	429979	429979	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:429979C>T	ENST00000280886.6	-	16	1951	c.1864G>A	c.(1864-1866)Ggc>Agc	p.G622S	DIP2C_ENST00000381496.3_Missense_Mutation_p.G515S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	622			G -> S (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.G622S(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTTCGCGCCGTCCGCCACT	0.527																																						ENST00000280886.6																			1	Substitution - Missense(1)	p.G622S(1)	large_intestine(1)	breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1864-1866)Ggc>Agc		DIP2 disco-interacting protein 2 homolog C (Drosophila)							81.0	67.0	72.0					10																	429979		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:429979C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1864G>A	10.37:g.429979C>T	ENSP00000280886:p.Gly622Ser					DIP2C_ENST00000381496.3_Missense_Mutation_p.G515S	p.G622S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	16	1951	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	622		G -> S (in a colorectal cancer sample; somatic mutation).			B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.1864G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755846	0.69648	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.58060	0.36;0.36	5.43	5.43	0.79202	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	M	0.87180	2.865	0.58432	D	0.999991	D;D	0.76494	0.999;0.998	D;D	0.69142	0.937;0.962	T	0.81272	-0.1008	10	0.87932	D	0	-27.5253	19.2431	0.93891	0.0:1.0:0.0:0.0	.	515;622	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	S	622;515	ENSP00000280886:G622S;ENSP00000370907:G515S	ENSP00000280886:G622S	G	-	1	0	DIP2C	419979	1.000000	0.71417	0.337000	0.25536	0.007000	0.05969	7.776000	0.85560	2.536000	0.85505	0.563000	0.77884	GGC		0.527	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		18	43	0	0	0	1	0	18	43				
PHOSPHO1	162466	broad.mit.edu	37	17	47302047	47302047	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:47302047G>A	ENST00000310544.4	-	3	492	c.365C>T	c.(364-366)tCc>tTc	p.S122F	PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.S147F|PHOSPHO1_ENST00000413580.1_Missense_Mutation_p.S147F			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	122					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GTTGGCATCGGAGATGAGAAT	0.647																																						ENST00000413580.1																			0											c.(439-441)tCc>tTc		phosphatase, orphan 1	Choline(DB00122)						25.0	24.0	24.0					17																	47302047		2202	4300	6502	SO:0001583	missense	162466				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47302047G>A	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.365C>T	17.37:g.47302047G>A	ENSP00000311925:p.Ser122Phe					PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.S122F|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.S147F	p.S147F	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	857	-			122					E9PAM0|Q17RU6	Missense_Mutation	SNP	ENST00000310544.4	37	c.440C>T	CCDS11547.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499712	0.85176	.	.	ENSG00000173868	ENST00000310544;ENST00000413580;ENST00000514112;ENST00000511066	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.26	4.25	0.50352	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87086	0.2169	10	0.87932	D	0	.	15.5464	0.76104	0.0:0.1381:0.8619:0.0	.	122;147	Q8TCT1;E9PAM0	PHOP1_HUMAN;.	F	122;147;147;122	ENSP00000311925:S122F;ENSP00000406909:S147F;ENSP00000427694:S147F;ENSP00000426095:S122F	ENSP00000311925:S122F	S	-	2	0	PHOSPHO1	44657046	1.000000	0.71417	0.988000	0.46212	0.971000	0.66376	9.162000	0.94745	2.446000	0.82766	0.313000	0.20887	TCC		0.647	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			3	8	0	0	0	1	0	3	8				
TXNDC5	81567	broad.mit.edu	37	6	7883432	7883432	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:7883432C>G	ENST00000379757.4	-	10	1281	c.1244G>C	c.(1243-1245)aGa>aCa	p.R415T	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Missense_Mutation_p.R343T|TXNDC5_ENST00000473453.1_Missense_Mutation_p.R307T	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	415	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GTCAAGGTCTCTGCCTCCACT	0.502																																					Ovarian(119;1430 1625 3928 26125 34589)	ENST00000539054.1																			0											c.(1027-1029)aGa>aCa									170.0	128.0	142.0					6																	7883432		2203	4300	6503	SO:0001583	missense	100526836							g.chr6:7883432C>G	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1244G>C	6.37:g.7883432C>G	ENSP00000369081:p.Arg415Thr					TXNDC5_ENST00000379757.4_Missense_Mutation_p.R415T|TXNDC5_ENST00000473453.1_Missense_Mutation_p.R307T|BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.R307T	p.R343T							10	1027	-								B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	c.1028G>C	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050209	0.75846	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.04015	3.73;3.73;3.73	5.8	4.93	0.64822	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.958;0.999	T	0.01771	-1.1277	10	0.62326	D	0.03	.	15.2516	0.73552	0.0:0.9324:0.0:0.0676	.	343;415	Q86UY0;Q8NBS9	.;TXND5_HUMAN	T	343;415;307	ENSP00000442453:R343T;ENSP00000369081:R415T;ENSP00000420784:R307T	ENSP00000442453:R343T	R	-	2	0	TXNDC5	7828431	0.992000	0.36948	0.417000	0.26559	0.625000	0.37756	4.974000	0.63771	1.442000	0.47568	0.655000	0.94253	AGA		0.502	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		6	71	0	0	0	1	0	6	71				
MITF	4286	broad.mit.edu	37	3	69928280	69928280	+	Intron	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:69928280C>T	ENST00000448226.2	+	2	231				MITF_ENST00000472437.1_Intron|MITF_ENST00000314589.5_Intron|MITF_ENST00000352241.4_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000394355.2_Missense_Mutation_p.H9Y			O75030	MITF_HUMAN	microphthalmia-associated transcription factor						bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTGGTTTTCCCACAGCAGTTC	0.488			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000394355.2				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(25-27)Cac>Tac		microphthalmia-associated transcription factor							39.0	42.0	41.0					3																	69928280		1986	4176	6162	SO:0001627	intron_variant	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69928280C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.105-5C>T	3.37:g.69928280C>T						MITF_ENST00000352241.4_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000314589.5_Intron|MITF_ENST00000448226.2_Intron|MITF_ENST00000472437.1_Intron	p.H9Y	NM_198177.2	NP_937820.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	1	25	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	0					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.25C>T		.	.	.	.	.	.	.	.	.	.	C	8.995	0.978688	0.18812	.	.	ENSG00000187098	ENST00000394355	T	0.11063	2.81	5.92	5.04	0.67666	.	.	.	.	.	T	0.09335	0.0230	.	.	.	0.21020	N	0.99981	B	0.21905	0.062	B	0.21917	0.037	T	0.29822	-0.9999	7	.	.	.	.	15.3989	0.74823	0.0:0.9326:0.0:0.0674	.	9	O75030-4	.	Y	9	ENSP00000377884:H9Y	.	H	+	1	0	MITF	70010970	0.997000	0.39634	0.998000	0.56505	0.989000	0.77384	1.063000	0.30567	1.497000	0.48584	0.655000	0.94253	CAC		0.488	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		18	24	0	0	0	1	0	18	24				
LSM4	25804	broad.mit.edu	37	19	18420673	18420673	+	Splice_Site	SNP	T	T	C	rs112426584		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:18420673T>C	ENST00000593829.1	-	4	398		c.e4-2		LSM4_ENST00000252816.6_Splice_Site	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(3)	6						GTCCCCGTCCTGCGGAGAAGG	0.642																																						ENST00000593829.1																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.e4-2		LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)							41.0	34.0	37.0					19																	18420673		2203	4300	6503	SO:0001630	splice_region_variant	25804				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding	g.chr19:18420673T>C	AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.145-2A>G	19.37:g.18420673T>C						LSM4_ENST00000252816.5_Splice_Site		NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN			4	398	-									Splice_Site	SNP	ENST00000593829.1	37		CCDS12374.1	.	.	.	.	.	.	.	.	.	.	t	14.89	2.671396	0.47781	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.07	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8918	0.35439	0.0:0.0919:0.0:0.9081	.	.	.	.	.	-1	.	.	.	-	.	.	LSM4	18281673	1.000000	0.71417	0.917000	0.36280	0.657000	0.38888	5.463000	0.66712	0.698000	0.31739	0.375000	0.23000	.		0.642	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1		Intron	6	25	0	0	0	1	0	6	25				
CNNM2	54805	broad.mit.edu	37	10	104831530	104831530	+	Splice_Site	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:104831530G>C	ENST00000369878.4	+	6	2355		c.e6-1		CNNM2_ENST00000433628.2_Intron|CNNM2_ENST00000475511.1_Intron	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2						magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCATTTTTCAGTTCCTTTGTC	0.433																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.e6-1		cyclin M2							282.0	270.0	274.0					10																	104831530		1961	4152	6113	SO:0001630	splice_region_variant	54805				ion transport	integral to membrane		g.chr10:104831530G>C	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2168-1G>C	10.37:g.104831530G>C						CNNM2_ENST00000457502.2_Splice_Site|CNNM2_ENST00000475511.1_Intron|CNNM2_ENST00000433628.2_Intron		NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	2291	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)						Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Splice_Site	SNP	ENST00000369878.4	37		CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446941	0.84101	.	.	ENSG00000148842	ENST00000457502;ENST00000369878	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7137	0.96107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNNM2	104821520	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.580000	0.90784	2.655000	0.90218	0.462000	0.41574	.		0.433	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	Intron	31	86	0	0	0	1	0	31	86				
FBXL13	222235	broad.mit.edu	37	7	102453882	102453882	+	Silent	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:102453882A>T	ENST00000313221.4	-	20	2541	c.2115T>A	c.(2113-2115)ccT>ccA	p.P705P	FBXL13_ENST00000456695.1_Silent_p.P423P|FBXL13_ENST00000379306.3_Silent_p.P423P|FBXL13_ENST00000379308.3_Silent_p.P660P|FBXL13_ENST00000455112.2_Silent_p.P660P|FBXL13_ENST00000393772.2_Silent_p.P677P|FBXL13_ENST00000436908.1_Silent_p.P705P|FBXL13_ENST00000379305.3_Silent_p.P677P	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	705										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GCTCTGTAACAGGGTTTCCTT	0.433																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(2029-2031)ccT>ccA		F-box and leucine-rich repeat protein 13							301.0	258.0	273.0					7																	102453882		2203	4300	6503	SO:0001819	synonymous_variant	222235							g.chr7:102453882A>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.2115T>A	7.37:g.102453882A>T						FBXL13_ENST00000436908.1_Silent_p.P705P|FBXL13_ENST00000379306.3_Silent_p.P423P|FBXL13_ENST00000379305.3_Silent_p.P677P|FBXL13_ENST00000313221.4_Silent_p.P705P|FBXL13_ENST00000456695.1_Silent_p.P423P|FBXL13_ENST00000379308.3_Silent_p.P660P|FBXL13_ENST00000455112.2_Silent_p.P660P	p.P677P			Q8NEE6	FXL13_HUMAN			19	2457	-			705					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	37	c.2031T>A	CCDS5726.1																																																																																				0.433	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		25	69	0	0	0	1	0	25	69				
ATR	545	broad.mit.edu	37	3	142278180	142278180	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:142278180T>A	ENST00000350721.4	-	7	1766	c.1645A>T	c.(1645-1647)Agt>Tgt	p.S549C	ATR_ENST00000383101.3_Missense_Mutation_p.S485C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	549					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S549G(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTAACAAACTTCTACAGCTC	0.353								Other conserved DNA damage response genes																														ENST00000350721.4																			1	Substitution - Missense(1)	p.S549G(1)	endometrium(1)	NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1645-1647)Agt>Tgt	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							109.0	107.0	108.0					3																	142278180		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142278180T>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1645A>T	3.37:g.142278180T>A	ENSP00000343741:p.Ser549Cys					ATR_ENST00000383101.3_Missense_Mutation_p.S485C	p.S549C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			7	1766	-			549					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1645A>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.445039	0.43429	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.03496	3.91;3.91	6.07	3.6	0.41247	Armadillo-type fold (1);	0.850695	0.10915	N	0.620195	T	0.03434	0.0099	N	0.24115	0.695	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.28618	-1.0038	10	0.56958	D	0.05	-5.171	9.1834	0.37156	0.1206:0.0:0.1254:0.754	.	549	Q13535	ATR_HUMAN	C	549;485;166	ENSP00000343741:S549C;ENSP00000372581:S485C	ENSP00000343741:S549C	S	-	1	0	ATR	143760870	0.063000	0.20901	0.968000	0.41197	0.968000	0.65278	2.676000	0.46883	2.326000	0.78906	0.533000	0.62120	AGT		0.353	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		24	37	0	0	0	1	0	24	37				
CD70	970	broad.mit.edu	37	19	6586078	6586078	+	Silent	SNP	G	G	T	rs368303189		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:6586078G>T	ENST00000245903.3	-	3	684	c.535C>A	c.(535-537)Cga>Aga	p.R179R	CD70_ENST00000423145.3_Intron	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	179					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TCAGTGTTTCGGGAAGGCAAA	0.507																																					Pancreas(183;2617 2876 10173 34193)	ENST00000245903.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						c.(535-537)Cga>Aga		CD70 molecule							61.0	51.0	54.0					19																	6586078		2203	4300	6503	SO:0001819	synonymous_variant	970				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding	g.chr19:6586078G>T	L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.535C>A	19.37:g.6586078G>T						CD70_ENST00000423145.3_Intron	p.R179R	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN			3	684	-			179					B4DPR8|Q53XX4|Q96J57	Silent	SNP	ENST00000245903.3	37	c.535C>A	CCDS12170.1																																																																																				0.507	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457860.1			5	26	1	0	0.014758	1	0.0151668	5	26				
TCHH	7062	broad.mit.edu	37	1	152083180	152083180	+	Missense_Mutation	SNP	T	T	A	rs376051941		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:152083180T>A	ENST00000368804.1	-	2	2512	c.2513A>T	c.(2512-2514)gAg>gTg	p.E838V		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	838					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGCTCCTCTTCCTC	0.677																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2512-2514)gAg>gTg		trichohyalin			VAL/GLU	0,4008		0,0,2004	34.0	40.0	38.0		2513	1.8	0.0	1		38	1,8305		0,1,4152	no	missense	TCHH	NM_007113.2	121	0,1,6156	AA,AT,TT		0.012,0.0,0.0081	possibly-damaging	838/1944	152083180	1,12313	2004	4153	6157	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083180T>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2513A>T	1.37:g.152083180T>A	ENSP00000357794:p.Glu838Val						p.E838V	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2512	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		838					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2513A>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	t	6.933	0.541794	0.13250	0.0	1.2E-4	ENSG00000159450	ENST00000368804	T	0.10668	2.85	4.22	1.77	0.24775	.	.	.	.	.	T	0.02047	0.0064	N	0.24115	0.695	0.19945	N	0.999948	P	0.50528	0.936	B	0.43301	0.415	T	0.35847	-0.9772	9	0.30854	T	0.27	.	2.6544	0.05008	0.2054:0.2243:0.0:0.5703	.	838	Q07283	TRHY_HUMAN	V	838	ENSP00000357794:E838V	ENSP00000357794:E838V	E	-	2	0	TCHH	150349804	0.035000	0.19736	0.041000	0.18516	0.354000	0.29330	2.760000	0.47581	0.051000	0.15978	0.370000	0.22315	GAG		0.677	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		17	33	0	0	0	1	0	17	33				
TAS2R38	5726	broad.mit.edu	37	7	141672584	141672584	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:141672584G>A	ENST00000547270.1	-	1	989	c.906C>T	c.(904-906)gcC>gcT	p.A302A		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	302					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCCTCAACTTGGCATTGCCTG	0.532																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(904-906)gcC>gcT		taste receptor, type 2, member 38							78.0	68.0	71.0					7																	141672584		2203	4300	6503	SO:0001819	synonymous_variant	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672584G>A	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.906C>T	7.37:g.141672584G>A							p.A302A	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	989	-	Melanoma(164;0.0171)		302					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	37	c.906C>T	CCDS34765.1																																																																																				0.532	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		20	43	0	0	0	1	0	20	43				
GSTK1	373156	broad.mit.edu	37	7	142962252	142962252	+	Intron	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:142962252G>A	ENST00000358406.5	+	4	455				GSTK1_ENST00000479303.1_Missense_Mutation_p.V151I|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Intron|GSTK1_ENST00000409500.3_Intron	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1						epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CCCCAGGCACGTTTTCAGGGT	0.622																																						ENST00000479303.1																			0				lung(4)	4						c.(451-453)Gtt>Att		glutathione S-transferase kappa 1	Glutathione(DB00143)						147.0	157.0	154.0					7																	142962252		692	1591	2283	SO:0001627	intron_variant	373156					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	g.chr7:142962252G>A		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.384+67G>A	7.37:g.142962252G>A						GSTK1_ENST00000358406.5_Intron|GSTK1_ENST00000443571.2_Intron|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000409500.3_Intron	p.V151I	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN			4	509	+	Melanoma(164;0.059)		138					B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	c.451G>A	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	G	1.209	-0.630189	0.03610	.	.	ENSG00000197448	ENST00000479303	.	.	.	4.32	-5.99	0.02213	.	3.001040	0.01294	N	0.010101	T	0.17066	0.0410	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08391	-1.0724	7	.	.	.	.	2.5898	0.04839	0.2277:0.4579:0.1875:0.1269	.	151	Q9Y2Q3-2	.	I	151	.	.	V	+	1	0	GSTK1	142672374	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.674000	0.01949	-0.903000	0.03881	-1.675000	0.00742	GTT		0.622	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		8	24	0	0	0	1	0	8	24				
MATN2	4147	broad.mit.edu	37	8	99019808	99019808	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:99019808A>C	ENST00000520016.1	+	9	1676	c.1552A>C	c.(1552-1554)Agc>Cgc	p.S518R	MATN2_ENST00000524308.1_Missense_Mutation_p.S477R|MATN2_ENST00000522025.2_Missense_Mutation_p.S234R|MATN2_ENST00000521689.1_Missense_Mutation_p.S518R|MATN2_ENST00000254898.5_Missense_Mutation_p.S518R			O00339	MATN2_HUMAN	matrilin 2	518	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CGTGCTCCGCAGCGATGGGAA	0.562																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(1552-1554)Agc>Cgc		matrilin 2							137.0	134.0	135.0					8																	99019808		2147	4254	6401	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99019808A>C	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1552A>C	8.37:g.99019808A>C	ENSP00000430487:p.Ser518Arg					MATN2_ENST00000524308.1_Missense_Mutation_p.S477R|MATN2_ENST00000521689.1_Missense_Mutation_p.S518R|MATN2_ENST00000520016.1_Missense_Mutation_p.S518R|MATN2_ENST00000522025.2_Missense_Mutation_p.S234R	p.S518R	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		10	1783	+	Breast(36;1.43e-06)		518			EGF-like 7.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.1552A>C	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.24|15.24	2.773659|2.773659	0.49786|0.49786	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000518154|ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	.|D;D;D;T;D	.|0.87966	.|-2.32;-2.32;-2.29;1.54;-2.32	5.65|5.65	3.28|3.28	0.37604|0.37604	.|Epidermal growth factor-like (1);	.|0.168649	.|0.42172	.|D	.|0.000752	T|T	0.80391|0.80391	0.4614|0.4614	L|L	0.28192|0.28192	0.835|0.835	0.29351|0.29351	N|N	0.86534|0.86534	.|B;P;P;B	.|0.37548	.|0.399;0.599;0.534;0.444	.|B;B;P;B	.|0.44597	.|0.206;0.266;0.454;0.356	T|T	0.70963|0.70963	-0.4729|-0.4729	5|10	.|0.22109	.|T	.|0.4	-13.0497|-13.0497	7.7712|7.7712	0.29010|0.29010	0.833:0.0:0.167:0.0|0.833:0.0:0.167:0.0	.|.	.|477;518;518;518	.|C9JH87;E9PF03;O00339-2;O00339	.|.;.;.;MATN2_HUMAN	P|R	300|518;518;477;477;234;518	.|ENSP00000429977:S518R;ENSP00000254898:S518R;ENSP00000430221:S477R;ENSP00000429010:S234R;ENSP00000430487:S518R	.|ENSP00000254898:S518R	Q|S	+|+	2|1	0|0	MATN2|MATN2	99088984|99088984	0.001000|0.001000	0.12720|0.12720	0.996000|0.996000	0.52242|0.52242	0.782000|0.782000	0.44232|0.44232	0.296000|0.296000	0.19083|0.19083	0.442000|0.442000	0.26555|0.26555	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.562	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			43	76	0	0	0	1	0	43	76				
YY1AP1	55249	broad.mit.edu	37	1	155630373	155630373	+	Missense_Mutation	SNP	G	G	A	rs370230805		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:155630373G>A	ENST00000295566.4	-	11	1489	c.1466C>T	c.(1465-1467)cCg>cTg	p.P489L	YY1AP1_ENST00000355499.4_Missense_Mutation_p.P443L|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P423L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P412L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P432L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P581L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P443L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P412L|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P561L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P432L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P289L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P443L|MSTO1_ENST00000452804.2_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	489					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CATTTTGCTCGGAGGGGCTTC	0.557																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(1681-1683)cCg>cTg		YY1 associated protein 1		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,	0,4406		0,0,2203	70.0	83.0	79.0		1295,1295,1328,1328,1742,1682,1268,1295,1466,1328,1130,	2.5	0.3	1		79	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,utr-3	YY1AP1	NM_001198899.1,NM_001198900.1,NM_001198901.1,NM_001198902.1,NM_001198903.1,NM_001198904.1,NM_001198905.1,NM_018253.3,NM_139118.2,NM_139119.2,NM_139121.2,NM_001198906.1	98,98,98,98,98,98,98,98,98,98,98,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	432/740,432/740,443/751,443/751,581/889,561/869,423/731,432/740,489/797,443/751,377/685,	155630373	2,13004	2203	4300	6503	SO:0001583	missense	55249							g.chr1:155630373G>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1466C>T	1.37:g.155630373G>A	ENSP00000295566:p.Pro489Leu					YY1AP1_ENST00000359205.5_Missense_Mutation_p.P432L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P412L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P443L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P443L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P581L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P423L|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P489L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P289L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P443L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P412L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P432L	p.P561L	NM_001198904.1	NP_001185833.1					10	1790	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.1682C>T	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	g	12.60	1.987328	0.35036	0.0	2.33E-4	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	2.53	2.53	0.30540	.	0.288892	0.29964	N	0.010751	T	0.57519	0.2059	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	0.989;0.991;0.976;0.999;1.0	P;P;B;P;D	0.64687	0.676;0.56;0.341;0.894;0.928	T	0.64816	-0.6318	10	0.87932	D	0	.	13.0809	0.59114	0.0:0.0:1.0:0.0	.	581;423;489;443;561	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	L	432;443;412;443;432;561;489;443;412;423;581;289	ENSP00000352134:P432L;ENSP00000347686:P443L;ENSP00000311138:P412L;ENSP00000316079:P443L;ENSP00000355298:P432L;ENSP00000357324:P561L;ENSP00000295566:P489L;ENSP00000357314:P443L;ENSP00000385791:P412L;ENSP00000385390:P423L;ENSP00000357323:P581L;ENSP00000437926:P289L	ENSP00000295566:P489L	P	-	2	0	YY1AP1	153896997	1.000000	0.71417	0.299000	0.25016	0.063000	0.16089	4.714000	0.61902	1.419000	0.47118	0.306000	0.20318	CCG		0.557	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		31	79	0	0	0	1	0	31	79				
CXorf22	170063	broad.mit.edu	37	X	35969427	35969427	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:35969427C>A	ENST00000297866.5	+	5	902	c.836C>A	c.(835-837)cCc>cAc	p.P279H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	279										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCCCAGAGCCCATAAATTGG	0.403																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(835-837)cCc>cAc		chromosome X open reading frame 22							55.0	50.0	51.0					X																	35969427		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35969427C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.836C>A	X.37:g.35969427C>A	ENSP00000297866:p.Pro279His						p.P279H	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			5	902	+			279					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.836C>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	6.523	0.464731	0.12402	.	.	ENSG00000165164	ENST00000297866	T	0.16597	2.33	5.76	2.92	0.33932	.	0.922612	0.09349	N	0.814457	T	0.17577	0.0422	M	0.67953	2.075	0.09310	N	1	P	0.34522	0.455	B	0.28991	0.097	T	0.18618	-1.0331	10	0.44086	T	0.13	-36.6461	6.6055	0.22724	0.1117:0.6193:0.1871:0.0818	.	279	Q6ZTR5	CX022_HUMAN	H	279	ENSP00000297866:P279H	ENSP00000297866:P279H	P	+	2	0	CXorf22	35879348	0.003000	0.15002	0.006000	0.13384	0.431000	0.31685	1.726000	0.38085	1.188000	0.43014	0.513000	0.50165	CCC		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		7	7	1	0	2.7689e-08	1	3.31374e-08	7	7				
BRCA2	675	broad.mit.edu	37	13	32910544	32910544	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr13:32910544G>A	ENST00000380152.3	+	11	2285	c.2052G>A	c.(2050-2052)caG>caA	p.Q684Q	BRCA2_ENST00000544455.1_Silent_p.Q684Q			P51587	BRCA2_HUMAN	breast cancer 2, early onset	684	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAATCTCTCAGGATCTTGATT	0.353			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(2050-2052)caG>caA	Homologous recombination	breast cancer 2, early onset							42.0	44.0	44.0					13																	32910544		2203	4300	6503	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32910544G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2052G>A	13.37:g.32910544G>A		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.Q684Q	p.Q684Q	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2279	+		Lung SC(185;0.0262)	684			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.2052G>A	CCDS9344.1																																																																																				0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		12	16	0	0	0	1	0	12	16				
DDX60	55601	broad.mit.edu	37	4	169157461	169157461	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:169157461C>A	ENST00000393743.3	-	33	4766	c.4475G>T	c.(4474-4476)gGa>gTa	p.G1492V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1492					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATATCTTCTTCCAAAGAGATG	0.313																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(4474-4476)gGa>gTa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							97.0	94.0	95.0					4																	169157461		2201	4296	6497	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169157461C>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4475G>T	4.37:g.169157461C>A	ENSP00000377344:p.Gly1492Val						p.G1492V	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	33	4766	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1492					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.4475G>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112960	0.56398	.	.	ENSG00000137628	ENST00000393743	T	0.21031	2.03	5.27	5.27	0.74061	.	0.111522	0.41001	D	0.000980	T	0.43055	0.1230	M	0.86953	2.85	0.80722	D	1	D	0.58620	0.983	P	0.50490	0.642	T	0.50466	-0.8825	10	0.44086	T	0.13	.	18.4899	0.90843	0.0:1.0:0.0:0.0	.	1492	Q8IY21	DDX60_HUMAN	V	1492	ENSP00000377344:G1492V	ENSP00000377344:G1492V	G	-	2	0	DDX60	169394036	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	4.799000	0.62517	2.478000	0.83669	0.557000	0.71058	GGA		0.313	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		6	22	1	0	0.00198382	1	0.00210285	6	22				
SRSF5	6430	broad.mit.edu	37	14	70238159	70238159	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:70238159C>T	ENST00000553521.1	+	9	2253	c.800C>T	c.(799-801)tCa>tTa	p.S267L	SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.S267L|SRSF5_ENST00000553635.1_Missense_Mutation_p.S264L|SRSF5_ENST00000557154.1_Missense_Mutation_p.S267L			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	267	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AGGTCCAGATCAGTTGACAGT	0.448																																						ENST00000553521.1																			0				large_intestine(1)|liver(1)	2						c.(799-801)tCa>tTa		serine/arginine-rich splicing factor 5							108.0	117.0	114.0					14																	70238159		2203	4300	6503	SO:0001583	missense	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70238159C>T	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.800C>T	14.37:g.70238159C>T	ENSP00000452123:p.Ser267Leu					SRSF5_ENST00000553635.1_Missense_Mutation_p.S264L|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.S267L|SRSF5_ENST00000557154.1_Missense_Mutation_p.S267L	p.S267L			Q13243	SRSF5_HUMAN			9	2253	+			267			Arg/Ser-rich (RS domain).		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	c.800C>T	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991273	0.74703	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000557154;ENST00000553635	T;T;T;T	0.16457	3.07;3.07;3.07;2.34	5.33	5.33	0.75918	.	0.110648	0.64402	D	0.000005	T	0.36110	0.0955	M	0.62723	1.935	0.80722	D	1	P;P	0.51449	0.945;0.909	P;P	0.54965	0.765;0.587	T	0.05666	-1.0871	10	0.87932	D	0	.	19.3996	0.94623	0.0:1.0:0.0:0.0	.	264;267	Q13243-3;Q13243	.;SRSF5_HUMAN	L	267;267;267;264	ENSP00000452123:S267L;ENSP00000377892:S267L;ENSP00000451088:S267L;ENSP00000451391:S264L	ENSP00000377892:S267L	S	+	2	0	SRSF5	69307912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.191000	0.72063	2.668000	0.90789	0.655000	0.94253	TCA		0.448	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		75	186	0	0	0	1	0	75	186				
TNR	7143	broad.mit.edu	37	1	175372683	175372683	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:175372683C>T	ENST00000367674.2	-	4	1277	c.569G>A	c.(568-570)tGc>tAc	p.C190Y	TNR_ENST00000263525.2_Missense_Mutation_p.C190Y			Q92752	TENR_HUMAN	tenascin R	190	Cys-rich.|EGF-like 1.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCCTTCGTTGCAGATGCAGCC	0.567																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(568-570)tGc>tAc		tenascin R							79.0	84.0	82.0					1																	175372683		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372683C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.569G>A	1.37:g.175372683C>T	ENSP00000356646:p.Cys190Tyr					TNR_ENST00000263525.2_Missense_Mutation_p.C190Y	p.C190Y	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			4	1277	-	Renal(580;0.146)		190			Cys-rich.|EGF-like 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.569G>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952423	0.92660	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.11495	2.77;2.77	6.02	6.02	0.97574	EGF-like region, conserved site (2);	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	T	0.66642	-0.5872	10	0.87932	D	0	.	20.1358	0.98028	0.0:1.0:0.0:0.0	.	190;190	B4DIX8;Q92752	.;TENR_HUMAN	Y	190	ENSP00000356646:C190Y;ENSP00000263525:C190Y	ENSP00000263525:C190Y	C	-	2	0	TNR	173639306	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.711000	0.84669	2.865000	0.98341	0.655000	0.94253	TGC		0.567	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		18	127	0	0	0	1	0	18	127				
NEBL	10529	broad.mit.edu	37	10	21108395	21108395	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:21108395C>T	ENST00000377122.4	-	20	2409	c.2013G>A	c.(2011-2013)ccG>ccA	p.P671P	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	671					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.P671P(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTCTATCTCCGGGGTCATGC	0.413																																						ENST00000377122.4																			1	Substitution - coding silent(1)	p.P671P(1)	lung(1)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2011-2013)ccG>ccA		nebulette							167.0	154.0	158.0					10																	21108395		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21108395C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2013G>A	10.37:g.21108395C>T						NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	p.P671P	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			20	2409	-			671					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.2013G>A	CCDS7134.1																																																																																				0.413	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		88	141	0	0	0	1	0	88	141				
F13A1	2162	broad.mit.edu	37	6	6305591	6305591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:6305591G>T	ENST00000264870.3	-	3	577	c.312C>A	c.(310-312)taC>taA	p.Y104*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	104					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACCAATGACGTATTCCACCC	0.488																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(310-312)taC>taA		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						175.0	140.0	152.0					6																	6305591		2203	4300	6503	SO:0001587	stop_gained	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6305591G>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.312C>A	6.37:g.6305591G>T	ENSP00000264870:p.Tyr104*						p.Y104*	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			3	577	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	104					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Nonsense_Mutation	SNP	ENST00000264870.3	37	c.312C>A	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.418997|4.418997	0.83559|0.83559	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000451619|ENST00000264870;ENST00000414279;ENST00000431222	.|.	.|.	.|.	5.57|5.57	0.454|0.454	0.16644|0.16644	.|.	.|0.061981	.|0.64402	.|D	.|0.000002	T|.	0.26085|.	0.0636|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.11155|.	-1.0599|.	3|.	.|0.22109	.|T	.|0.4	.|.	9.3586|9.3586	0.38182|0.38182	0.7393:0.0:0.2607:0.0|0.7393:0.0:0.2607:0.0	.|.	.|.	.|.	.|.	K|X	129|104;104;142	.|.	.|ENSP00000264870:Y104X	T|Y	-|-	2|3	0|2	F13A1|F13A1	6250590|6250590	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	1.458000|1.458000	0.35223|0.35223	-0.168000|-0.168000	0.10853|0.10853	-0.143000|-0.143000	0.13931|0.13931	ACG|TAC		0.488	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		7	42	1	0	0.00307968	1	0.00324591	7	42				
NSD1	64324	broad.mit.edu	37	5	176719160	176719160	+	Splice_Site	SNP	G	G	A	rs398124381		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176719160G>A	ENST00000439151.2	+	22	6508		c.e22+1		NSD1_ENST00000347982.4_Splice_Site|NSD1_ENST00000354179.4_Splice_Site|NSD1_ENST00000361032.4_Splice_Site	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGACCAGCAGGTTGGTGCCAA	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.e22+1		nuclear receptor binding SET domain protein 1							65.0	55.0	58.0					5																	176719160		2203	4300	6503	SO:0001630	splice_region_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176719160G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6463+1G>A	5.37:g.176719160G>A		HNSCC(47;0.14)				NSD1_ENST00000361032.4_Splice_Site|NSD1_ENST00000347982.4_Splice_Site|NSD1_ENST00000354179.4_Splice_Site		NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	22	6508	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						Q96PD8|Q96RN7	Splice_Site	SNP	ENST00000439151.2	37		CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744616	0.89663	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1358	0.93428	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NSD1	176651766	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.865000	0.99609	2.524000	0.85096	0.650000	0.86243	.		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	Intron	8	32	0	0	0	1	0	8	32				
ATP13A5	344905	broad.mit.edu	37	3	193007777	193007777	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:193007777G>A	ENST00000342358.4	-	26	3037	c.2920C>T	c.(2920-2922)Ctg>Ttg	p.L974L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	974						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTGAAAGCAGTAAAGGGGGA	0.418																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2920-2922)Ctg>Ttg		ATPase type 13A5							92.0	91.0	91.0					3																	193007777		2203	4300	6503	SO:0001819	synonymous_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193007777G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2920C>T	3.37:g.193007777G>A						ATP13A5_ENST00000495496.1_5'UTR	p.L974L	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	26	3037	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		974					Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	c.2920C>T	CCDS33914.1																																																																																				0.418	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		38	36	0	0	0	1	0	38	36				
OR4A16	81327	broad.mit.edu	37	11	55110791	55110791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55110791G>T	ENST00000314721.2	+	1	165	c.115G>T	c.(115-117)Gga>Tga	p.G39*		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G39R(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GACAATGGTGGGAAACCTCCT	0.418																																						ENST00000314721.2																			1	Substitution - Missense(1)	p.G39R(1)	lung(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(115-117)Gga>Tga		olfactory receptor, family 4, subfamily A, member 16							120.0	112.0	115.0					11																	55110791		2201	4296	6497	SO:0001587	stop_gained	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110791G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.115G>T	11.37:g.55110791G>T	ENSP00000325128:p.Gly39*						p.G39*	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	165	+			39					Q6IFL3	Nonsense_Mutation	SNP	ENST00000314721.2	37	c.115G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	6.862	0.528390	0.13127	.	.	ENSG00000181961	ENST00000314721	.	.	.	2.41	2.41	0.29592	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4813	0.44695	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	ENSP00000325128:G39X	G	+	1	0	OR4A16	54867367	0.767000	0.28508	0.801000	0.32222	0.027000	0.11550	2.284000	0.43478	1.353000	0.45828	0.185000	0.17295	GGA		0.418	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		28	61	1	0	7.26314e-15	1	9.79864e-15	28	61				
FTO	79068	broad.mit.edu	37	16	53967915	53967915	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:53967915G>A	ENST00000471389.1	+	8	1480	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	FTO_ENST00000463855.1_Missense_Mutation_p.E42K|FTO_ENST00000460382.1_Missense_Mutation_p.E21K|FTO_ENST00000431610.2_Missense_Mutation_p.E21K|FTO_ENST00000394647.3_Missense_Mutation_p.E124K	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	420					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGTGCTTCATGAAGTTAAAAG	0.408																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1258-1260)Gaa>Aaa		fat mass and obesity associated							69.0	64.0	66.0					16																	53967915		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53967915G>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1258G>A	16.37:g.53967915G>A	ENSP00000418823:p.Glu420Lys					FTO_ENST00000394647.3_Missense_Mutation_p.E124K|FTO_ENST00000460382.1_Missense_Mutation_p.E21K|FTO_ENST00000463855.1_Missense_Mutation_p.E42K|FTO_ENST00000431610.2_Missense_Mutation_p.E21K	p.E420K	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			8	1480	+			420					A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.1258G>A	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698562	0.48307	.	.	ENSG00000140718	ENST00000471389;ENST00000394647;ENST00000431610;ENST00000460382;ENST00000476894;ENST00000463855	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.92	4.97	0.65823	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.198461	0.42420	D	0.000714	T	0.39784	0.1091	L	0.57536	1.79	0.34471	D	0.702779	B	0.11235	0.004	B	0.12156	0.007	T	0.48681	-0.9014	10	0.27785	T	0.31	-4.1172	13.1994	0.59758	0.0731:0.0:0.9269:0.0	.	420	Q9C0B1	FTO_HUMAN	K	420;124;21;21;21;42	ENSP00000418823:E420K;ENSP00000378142:E124K;ENSP00000415636:E21K;ENSP00000417422:E21K;ENSP00000417843:E42K	ENSP00000378142:E124K	E	+	1	0	FTO	52525416	1.000000	0.71417	0.864000	0.33941	0.994000	0.84299	4.757000	0.62213	1.518000	0.48934	0.557000	0.71058	GAA		0.408	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		9	36	0	0	0	1	0	9	36				
OR5B2	390190	broad.mit.edu	37	11	58189874	58189874	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:58189874G>T	ENST00000302581.2	-	1	912	c.861C>A	c.(859-861)gtC>gtA	p.V287V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGGCTGTAGACCACAGGGT	0.423																																						ENST00000302581.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(859-861)gtC>gtA		olfactory receptor, family 5, subfamily B, member 2							92.0	87.0	88.0					11																	58189874		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58189874G>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.861C>A	11.37:g.58189874G>T							p.V287V	NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN			1	912	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	287					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.861C>A	CCDS31550.1																																																																																				0.423	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		18	50	1	0	2.4624e-09	1	3.025e-09	18	50				
BMPR1B	658	broad.mit.edu	37	4	96036835	96036835	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:96036835G>T	ENST00000515059.1	+	6	529		c.e6-1		BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000394931.1_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTCGATTATAGGACACTCCCA	0.338																																						ENST00000515059.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e6-1		bone morphogenetic protein receptor, type IB							117.0	111.0	113.0					4																	96036835		2203	4300	6503	SO:0001630	splice_region_variant	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96036835G>T	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.247-1G>T	4.37:g.96036835G>T						BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site		NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	6	529	+		Hepatocellular(203;0.114)						B2R953|B4DSV1|P78366	Splice_Site	SNP	ENST00000515059.1	37		CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265955	0.80358	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMPR1B	96255858	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	9.017000	0.93651	2.941000	0.99782	0.655000	0.94253	.		0.338	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	Intron	15	42	1	0	1.15088e-07	1	1.35979e-07	15	42				
STON2	85439	broad.mit.edu	37	14	81837512	81837512	+	Missense_Mutation	SNP	G	G	A	rs534726915		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:81837512G>A	ENST00000267540.2	-	3	591	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	STON2_ENST00000555447.1_Missense_Mutation_p.P131S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	131					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTCCAGCAGGGCATGGTCAAT	0.463																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(391-393)Ccc>Tcc		stonin 2							84.0	83.0	83.0					14																	81837512		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81837512G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.391C>T	14.37:g.81837512G>A	ENSP00000267540:p.Pro131Ser					STON2_ENST00000267540.2_Missense_Mutation_p.P131S	p.P131S	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	5	803	-			131					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.391C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122101	0.37436	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.57907	0.37;0.37	6.04	4.97	0.65823	Stonin-2, N-terminal (1);	0.061507	0.64402	D	0.000004	T	0.39200	0.1069	L	0.29908	0.895	0.33622	D	0.604874	B;B	0.31413	0.322;0.275	B;B	0.27170	0.077;0.067	T	0.55159	-0.8184	10	0.59425	D	0.04	-24.7803	11.5884	0.50931	0.1357:0.0:0.8643:0.0	.	131;131	Q8WXE9;G3V2T7	STON2_HUMAN;.	S	131;143;131	ENSP00000450857:P131S;ENSP00000267540:P131S	ENSP00000267540:P131S	P	-	1	0	STON2	80907265	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.269000	0.43346	2.873000	0.98535	0.561000	0.74099	CCC		0.463	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		8	104	0	0	0	1	0	8	104				
FBXO39	162517	broad.mit.edu	37	17	6683440	6683440	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:6683440T>C	ENST00000321535.4	+	2	383	c.253T>C	c.(253-255)Ttt>Ctt	p.F85L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	85										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGTTAAGAAGTTTGGTCGTTA	0.498																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(253-255)Ttt>Ctt		F-box protein 39							154.0	147.0	149.0					17																	6683440		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6683440T>C	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.253T>C	17.37:g.6683440T>C	ENSP00000321386:p.Phe85Leu						p.F85L	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			2	383	+			85						Missense_Mutation	SNP	ENST00000321535.4	37	c.253T>C	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007123	0.54361	.	.	ENSG00000177294	ENST00000321535	T	0.12774	2.65	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.20659	0.0497	L	0.32530	0.975	0.43399	D	0.995528	P	0.52842	0.956	D	0.65010	0.931	T	0.04723	-1.0931	10	0.08599	T	0.76	-18.6823	12.1419	0.54002	0.0:0.0:0.0:1.0	.	85	Q8N4B4	FBX39_HUMAN	L	85	ENSP00000321386:F85L	ENSP00000321386:F85L	F	+	1	0	FBXO39	6624164	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.198000	0.65147	2.194000	0.70268	0.459000	0.35465	TTT		0.498	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		42	95	0	0	0	1	0	42	95				
BRDT	676	broad.mit.edu	37	1	92459807	92459807	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:92459807C>A	ENST00000362005.3	+	16	2701	c.2283C>A	c.(2281-2283)ccC>ccA	p.P761P	BRDT_ENST00000394530.3_Silent_p.P715P|BRDT_ENST00000399546.2_Silent_p.P761P|BRDT_ENST00000370389.2_Silent_p.P688P|BRDT_ENST00000402388.1_Silent_p.P761P	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	761					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCTGCCTCCCTCAGGTAAGA	0.294																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(2062-2064)ccC>ccA		bromodomain, testis-specific							62.0	59.0	60.0					1																	92459807		2203	4300	6503	SO:0001819	synonymous_variant	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92459807C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2283C>A	1.37:g.92459807C>A						BRDT_ENST00000362005.3_Silent_p.P761P|BRDT_ENST00000394530.3_Silent_p.P715P|BRDT_ENST00000399546.2_Silent_p.P761P|BRDT_ENST00000402388.1_Silent_p.P761P	p.P688P	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	15	2988	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	761					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	c.2064C>A	CCDS735.1																																																																																				0.294	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		5	27	1	0	0.000602214	1	0.000643866	5	27				
FAM86EP	348926	broad.mit.edu	37	4	3948570	3948570	+	RNA	SNP	G	G	T	rs191853620	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:3948570G>T	ENST00000313946.8	-	0	1232				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		GGAGCCCGCTGGTGCTCCCGG	0.622																																						ENST00000281228.8																			0																																																			0							g.chr4:3948570G>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3948570G>T						FAM86EP_ENST00000313946.8_RNA								0	815	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.622	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			5	79	1	0	8.12818e-05	1	8.79171e-05	5	79				
LYPD6	130574	broad.mit.edu	37	2	150305596	150305596	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:150305596C>A	ENST00000334166.4	+	3	409	c.152C>A	c.(151-153)aCc>aAc	p.T51N	LYPD6_ENST00000409381.1_Missense_Mutation_p.T51N	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	51	UPAR/Ly6.					extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		AAATGTTTCACCTGTGAAAAG	0.433																																						ENST00000334166.4																			0				large_intestine(1)|lung(4)	5						c.(151-153)aCc>aAc		LY6/PLAUR domain containing 6							71.0	67.0	69.0					2																	150305596		2203	4300	6503	SO:0001583	missense	130574					extracellular region		g.chr2:150305596C>A	BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.152C>A	2.37:g.150305596C>A	ENSP00000334463:p.Thr51Asn					LYPD6_ENST00000409381.1_Missense_Mutation_p.T51N	p.T51N	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0667)	3	409	+			51			UPAR/Ly6.		B3KWC0|Q4G121|Q53TR3|Q659B1	Missense_Mutation	SNP	ENST00000334166.4	37	c.152C>A	CCDS2188.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062492	0.93898	.	.	ENSG00000187123	ENST00000409381;ENST00000334166;ENST00000414420	T;T;T	0.27557	2.12;2.12;1.66	5.42	5.42	0.78866	Ly-6 antigen / uPA receptor -like (1);	0.134693	0.64402	D	0.000002	T	0.57902	0.2085	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.61387	-0.7073	10	0.87932	D	0	-37.9198	17.0774	0.86590	0.0:1.0:0.0:0.0	.	51	Q86Y78	LYPD6_HUMAN	N	51	ENSP00000386413:T51N;ENSP00000334463:T51N;ENSP00000392286:T51N	ENSP00000334463:T51N	T	+	2	0	LYPD6	150013842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.376000	0.79658	2.705000	0.92388	0.655000	0.94253	ACC		0.433	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254800.2	NM_194317		4	20	1	0	0.00909568	1	0.00947892	4	20				
LTBP4	8425	broad.mit.edu	37	19	41131858	41131858	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:41131858G>C	ENST00000308370.7	+	31	4127	c.4127G>C	c.(4126-4128)tGc>tCc	p.C1376S	LTBP4_ENST00000396819.3_Missense_Mutation_p.C1309S|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.C744S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.C1339S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1377	TB 4.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTGCTGCTGCCTGTATGGA	0.642																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4126-4128)tGc>tCc		latent transforming growth factor beta binding protein 4							21.0	25.0	23.0					19																	41131858		2197	4298	6495	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41131858G>C	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4127G>C	19.37:g.41131858G>C	ENSP00000311905:p.Cys1376Ser					LTBP4_ENST00000545697.1_Missense_Mutation_p.C744S|LTBP4_ENST00000204005.9_Missense_Mutation_p.C1339S|LTBP4_ENST00000396819.3_Missense_Mutation_p.C1309S|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	p.C1376S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		31	4127	+			1377			TB 4.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4127G>C		.	.	.	.	.	.	.	.	.	.	G	20.4	3.992169	0.74703	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	4.47	4.47	0.54385	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.40640	N	0.001045	D	0.98242	0.9418	.	.	.	0.52501	D	0.999954	D;D;D;D;D;D	0.76494	0.99;0.998;0.999;0.987;0.997;0.997	P;D;D;D;D;D	0.80764	0.871;0.961;0.977;0.985;0.994;0.994	D	0.98494	1.0611	9	0.48119	T	0.1	.	16.0512	0.80763	0.0:0.0:1.0:0.0	.	137;389;597;1309;1377;1339	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	S	1339;744;1376;1309;137	ENSP00000204005:C1339S;ENSP00000441054:C744S;ENSP00000311905:C1376S;ENSP00000380031:C1309S	ENSP00000204005:C1339S	C	+	2	0	LTBP4	45823698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.538000	0.98072	2.301000	0.77427	0.557000	0.71058	TGC		0.642	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		6	16	0	0	0	1	0	6	16				
PDE10A	10846	broad.mit.edu	37	6	165792724	165792724	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:165792724C>T	ENST00000366882.1	-	19	2068	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	PDE10A_ENST00000354448.4_Missense_Mutation_p.M638I|PDE10A_ENST00000539869.2_Missense_Mutation_p.M648I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	638					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CGGTCTGGTACATCTCTTCCA	0.383																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1912-1914)atG>atA		phosphodiesterase 10A	Dipyridamole(DB00975)						156.0	148.0	150.0					6																	165792724		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165792724C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1914G>A	6.37:g.165792724C>T	ENSP00000355847:p.Met638Ile					PDE10A_ENST00000539869.2_Missense_Mutation_p.M648I|PDE10A_ENST00000354448.4_Missense_Mutation_p.M638I	p.M638I			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	19	2068	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	638					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1914G>A		.	.	.	.	.	.	.	.	.	.	C	9.805	1.181651	0.21787	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.75260	-0.92;-0.92	5.95	5.95	0.96441	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.045098	0.85682	D	0.000000	T	0.31389	0.0795	N	0.02213	-0.635	0.41839	D	0.990117	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.35475	-0.9787	10	0.12766	T	0.61	.	13.7627	0.62977	0.2682:0.7318:0.0:0.0	.	648;638	Q9ULW9;Q9Y233	.;PDE10_HUMAN	I	638;666;648;638;637	ENSP00000355847:M638I;ENSP00000346435:M638I	ENSP00000341187:M648I	M	-	3	0	PDE10A	165712714	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.976000	0.40579	2.824000	0.97209	0.655000	0.94253	ATG		0.383	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			9	59	0	0	0	1	0	9	59				
EDA2R	60401	broad.mit.edu	37	X	65819587	65819587	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:65819587G>T	ENST00000374719.3	-	6	689	c.633C>A	c.(631-633)acC>acA	p.T211T	EDA2R_ENST00000253392.5_Silent_p.T232T|EDA2R_ENST00000451436.2_Silent_p.T87T|EDA2R_ENST00000450752.1_Silent_p.T232T|EDA2R_ENST00000396050.1_Silent_p.T211T|EDA2R_ENST00000456230.2_Silent_p.T211T	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	211					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TAAGTGGCTGGGTCTGAAAGA	0.547																																						ENST00000374719.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(631-633)acC>acA		ectodysplasin A2 receptor							91.0	52.0	65.0					X																	65819587		2203	4300	6503	SO:0001819	synonymous_variant	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65819587G>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.633C>A	X.37:g.65819587G>T						EDA2R_ENST00000450752.1_Silent_p.T232T|EDA2R_ENST00000456230.2_Silent_p.T211T|EDA2R_ENST00000253392.5_Silent_p.T232T|EDA2R_ENST00000396050.1_Silent_p.T211T|EDA2R_ENST00000451436.2_Silent_p.T87T	p.T211T	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN			6	689	-			211					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	ENST00000374719.3	37	c.633C>A	CCDS14386.1																																																																																				0.547	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		10	1	1	0	0.0581538	1	0.0595996	10	1				
OR2T33	391195	broad.mit.edu	37	1	248436359	248436359	+	Missense_Mutation	SNP	G	G	T	rs113574656	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:248436359G>T	ENST00000318021.2	-	1	779	c.758C>A	c.(757-759)gCc>gAc	p.A253D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A253V(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGTAAAAATGGCAGCTCCATA	0.498																																						ENST00000318021.2																			1	Substitution - Missense(1)	p.A253V(1)	endometrium(1)	NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(757-759)gCc>gAc		olfactory receptor, family 2, subfamily T, member 33							74.0	87.0	83.0					1																	248436359		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436359G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.758C>A	1.37:g.248436359G>T	ENSP00000324687:p.Ala253Asp						p.A253D	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	779	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		253					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.758C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	12.44	1.939806	0.34189	.	.	ENSG00000177212	ENST00000318021	T	0.00193	8.58	1.77	0.811	0.18739	GPCR, rhodopsin-like superfamily (1);	0.254634	0.20279	U	0.095491	T	0.00580	0.0019	H	0.95365	3.66	0.09310	N	1	D	0.57571	0.98	D	0.63381	0.914	T	0.39375	-0.9617	10	0.72032	D	0.01	.	5.509	0.16870	0.4403:0.0:0.5597:0.0	.	253	Q8NG76	O2T33_HUMAN	D	253	ENSP00000324687:A253D	ENSP00000324687:A253D	A	-	2	0	OR2T33	246502982	0.000000	0.05858	0.991000	0.47740	0.887000	0.51463	-0.872000	0.04219	0.291000	0.22468	0.418000	0.28097	GCC		0.498	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		15	64	1	0	2.35188e-11	1	2.99845e-11	15	64				
NMUR1	10316	broad.mit.edu	37	2	232392963	232392963	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:232392963G>C	ENST00000305141.4	-	2	902	c.769C>G	c.(769-771)Cga>Gga	p.R257G		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	257					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGCCGCAGTCGCAGCCCAATG	0.642																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(769-771)Cga>Gga		neuromedin U receptor 1							37.0	38.0	38.0					2																	232392963		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232392963G>C	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.769C>G	2.37:g.232392963G>C	ENSP00000305877:p.Arg257Gly						p.R257G	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	902	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	257					O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.769C>G	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183600	0.38609	.	.	ENSG00000171596	ENST00000305141	T	0.38077	1.16	4.94	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.539191	0.20131	N	0.098593	T	0.56247	0.1972	M	0.75447	2.3	0.37593	D	0.920249	D	0.65815	0.995	D	0.64321	0.924	T	0.66052	-0.6019	10	0.66056	D	0.02	-12.3885	13.133	0.59393	0.0:0.0:0.7114:0.2886	.	257	Q9HB89	NMUR1_HUMAN	G	257	ENSP00000305877:R257G	ENSP00000305877:R257G	R	-	1	2	NMUR1	232101207	1.000000	0.71417	0.423000	0.26634	0.083000	0.17756	5.540000	0.67205	1.049000	0.40321	0.456000	0.33151	CGA		0.642	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		11	17	0	0	0	1	0	11	17				
GRIA1	2890	broad.mit.edu	37	5	153149891	153149891	+	Missense_Mutation	SNP	G	G	A	rs370642711		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:153149891G>A	ENST00000285900.5	+	13	2529	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	GRIA1_ENST00000448073.4_Missense_Mutation_p.R739Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R739Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R649Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R660Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R729Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	729					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ATTGAGCAGCGGAAACCCTGT	0.507																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2185-2187)cGg>cAg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	113.0	95.0	101.0		2186,2186	5.4	1.0	5		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	729/907,729/907	153149891	1,13005	2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149891G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2186G>A	5.37:g.153149891G>A	ENSP00000285900:p.Arg729Gln					GRIA1_ENST00000340592.5_Missense_Mutation_p.R729Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R660Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R649Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R739Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R739Q	p.R729Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2529	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	729					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2186G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047286	0.93740	0.0	1.16E-4	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.37	5.37	0.77165	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.934;0.997;0.999	T	0.64820	-0.6317	10	0.87932	D	0	.	18.1529	0.89679	0.0:0.0:1.0:0.0	.	739;739;649;729;729	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	Q	729;729;649;683;729;662;660;739;739	ENSP00000285900:R729Q;ENSP00000427920:R649Q;ENSP00000339343:R729Q;ENSP00000427864:R662Q;ENSP00000442108:R660Q;ENSP00000428994:R739Q;ENSP00000415569:R739Q	ENSP00000285900:R729Q	R	+	2	0	GRIA1	153130084	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.637000	0.98443	2.521000	0.84997	0.650000	0.86243	CGG		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			19	48	0	0	0	1	0	19	48				
RIMS2	9699	broad.mit.edu	37	8	104898192	104898192	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:104898192G>T	ENST00000436393.2	+	2	940	c.699G>T	c.(697-699)cgG>cgT	p.R233R	RIMS2_ENST00000507740.1_Silent_p.R263R|RIMS2_ENST00000262231.10_Silent_p.R263R|RIMS2_ENST00000406091.3_Silent_p.R455R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	486					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACTCACTACGGAAACAGCACC	0.453										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(787-789)cgG>cgT		regulating synaptic membrane exocytosis 2							101.0	93.0	96.0					8																	104898192		1947	4150	6097	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898192G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.699G>T	8.37:g.104898192G>T		HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Silent_p.R233R|RIMS2_ENST00000262231.10_Silent_p.R263R|RIMS2_ENST00000406091.3_Silent_p.R455R	p.R263R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1025	+			486					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.789G>T																																																																																					0.453	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		18	90	1	0	5.03518e-11	1	6.37561e-11	18	90				
PTPRD	5789	broad.mit.edu	37	9	8633439	8633439	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:8633439C>A	ENST00000381196.4	-	11	773	c.230G>T	c.(229-231)gGg>gTg	p.G77V	PTPRD_ENST00000537002.1_Missense_Mutation_p.G77V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G77V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G77V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G77V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G77V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G77V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G77V|PTPRD_ENST00000463477.1_Missense_Mutation_p.G77V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G77V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G77V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G77V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	77	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATCCAGACCCATCGTCAAA	0.428										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(229-231)gGg>gTg		protein tyrosine phosphatase, receptor type, D							116.0	100.0	106.0					9																	8633439		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633439C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.230G>T	9.37:g.8633439C>A	ENSP00000370593:p.Gly77Val	TSP Lung(15;0.13)				PTPRD_ENST00000486161.1_Missense_Mutation_p.G77V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G77V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G77V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G77V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G77V|PTPRD_ENST00000463477.1_Missense_Mutation_p.G77V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G77V|PTPRD_ENST00000537002.1_Missense_Mutation_p.G77V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G77V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G77V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G77V	p.G77V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	11	773	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	77			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.230G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500514	0.85176	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	6.05	6.05	0.98169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88994	0.6589	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;0.99;0.997;0.999;1.0;0.99	D;D;D;D;D;P;D;D;D;D	0.97110	1.0;0.984;0.998;0.998;0.996;0.736;0.98;0.975;0.999;0.963	D	0.87522	0.2447	9	.	.	.	.	20.599	0.99451	0.0:1.0:0.0:0.0	.	77;77;77;77;77;77;77;77;77;77	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	77	ENSP00000370593:G77V;ENSP00000348812:G77V;ENSP00000353187:G77V;ENSP00000351293:G77V;ENSP00000347373:G77V;ENSP00000380741:G77V;ENSP00000380735:G77V;ENSP00000440515:G77V;ENSP00000438164:G77V;ENSP00000417093:G77V;ENSP00000380731:G77V;ENSP00000417661:G77V;ENSP00000417890:G77V	.	G	-	2	0	PTPRD	8623439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.769000	0.85360	2.871000	0.98454	0.637000	0.83480	GGG		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			8	44	1	0	5.18039e-06	1	5.82402e-06	8	44				
RIF1	55183	broad.mit.edu	37	2	152276866	152276866	+	Silent	SNP	A	A	G	rs148830532		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:152276866A>G	ENST00000243326.5	+	6	1149	c.666A>G	c.(664-666)gcA>gcG	p.A222A	RIF1_ENST00000433166.2_Silent_p.A222A|RIF1_ENST00000428287.2_Silent_p.A222A|RIF1_ENST00000444746.2_Silent_p.A222A|RIF1_ENST00000453091.2_Silent_p.A222A|RIF1_ENST00000430328.2_Silent_p.A222A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGAAATAGCATCTATTACGG	0.408																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(664-666)gcA>gcG		RAP1 interacting factor homolog (yeast)		A	,,,	0,4406		0,0,2203	90.0	77.0	82.0		666,666,666,666	0.7	1.0	2	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	,,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,,	222/2447,222/2447,222/2447,222/2473	152276866	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152276866A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.666A>G	2.37:g.152276866A>G						RIF1_ENST00000444746.2_Silent_p.A222A|RIF1_ENST00000430328.2_Silent_p.A222A|RIF1_ENST00000428287.2_Silent_p.A222A|RIF1_ENST00000433166.2_Silent_p.A222A|RIF1_ENST00000453091.2_Silent_p.A222A	p.A222A			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	6	1149	+			222					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.666A>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483676	0.26598	0.0	1.16E-4	ENSG00000080345	ENST00000414861	.	.	.	5.73	0.658	0.17855	.	.	.	.	.	T	0.51312	0.1667	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37753	-0.9692	4	.	.	.	-19.7267	5.3305	0.15930	0.5201:0.2682:0.2117:0.0	.	.	.	.	V	214	.	.	I	+	1	0	RIF1	151985112	0.999000	0.42202	0.998000	0.56505	0.978000	0.69477	0.700000	0.25601	0.158000	0.19367	-0.451000	0.05528	ATC		0.408	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			7	30	0	0	0	1	0	7	30				
NRD1	4898	broad.mit.edu	37	1	52344058	52344058	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:52344058C>G	ENST00000354831.7	-	1	419	c.230G>C	c.(229-231)cGg>cCg	p.R77P	NRD1_ENST00000352171.7_Missense_Mutation_p.R77P|NRD1_ENST00000539524.1_5'Flank|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	77					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACGGGCAACCCGGCTGTTCTC	0.602																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(229-231)cGg>cCg		nardilysin (N-arginine dibasic convertase)							63.0	66.0	65.0					1																	52344058		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52344058C>G	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.230G>C	1.37:g.52344058C>G	ENSP00000346890:p.Arg77Pro					NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.R77P	p.R77P	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			1	419	-			77					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.230G>C	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063570	0.76187	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000546169	T;T	0.41758	1.23;0.99	5.17	5.17	0.71159	.	0.085869	0.45126	N	0.000400	T	0.52821	0.1758	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.75484	0.986;0.969;0.969	T	0.51631	-0.8681	10	0.49607	T	0.09	-11.2949	16.2699	0.82608	0.0:1.0:0.0:0.0	.	77;77;77	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	P	77	ENSP00000262679:R77P;ENSP00000346890:R77P	ENSP00000262679:R77P	R	-	2	0	NRD1	52116646	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	3.873000	0.56093	2.689000	0.91719	0.650000	0.86243	CGG		0.602	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		12	38	0	0	0	1	0	12	38				
CEACAM1	634	broad.mit.edu	37	19	43015732	43015732	+	Missense_Mutation	SNP	G	G	T	rs367681999		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:43015732G>T	ENST00000161559.6	-	7	1559	c.1425C>A	c.(1423-1425)aaC>aaA	p.N475K	CEACAM1_ENST00000488639.2_5'UTR|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000403444.3_Intron|CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000352591.5_Missense_Mutation_p.N379K|CEACAM1_ENST00000358394.3_Missense_Mutation_p.N410K|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000351134.3_Missense_Mutation_p.N201K	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	475					angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACTTACTGTGGTTGGAGACTG	0.507																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(1423-1425)aaC>aaA		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						242.0	229.0	233.0					19																	43015732		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43015732G>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.1425C>A	19.37:g.43015732G>T	ENSP00000161559:p.Asn475Lys					CEACAM1_ENST00000403444.3_Intron|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000599389.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000488639.2_5'UTR|CEACAM1_ENST00000358394.3_Missense_Mutation_p.N410K|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000352591.5_Missense_Mutation_p.N379K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.N201K|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	p.N475K	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	7	1559	-		Prostate(69;0.00682)	475					A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.1425C>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	g	18.18	3.566636	0.65651	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000352591	T;T;T;T	0.43294	0.95;1.84;4.92;2.12	4.96	1.65	0.23941	.	.	.	.	.	T	0.45296	0.1335	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.72338	0.977;0.977;0.961;0.949	T	0.47611	-0.9104	9	0.07175	T	0.84	.	7.5966	0.28052	0.276:0.0:0.724:0.0	.	201;379;410;475	P13688-7;P13688-6;P13688-5;P13688	.;.;.;CEAM1_HUMAN	K	475;410;201;379	ENSP00000161559:N475K;ENSP00000351165:N410K;ENSP00000325946:N201K;ENSP00000244291:N379K	ENSP00000161559:N475K	N	-	3	2	CEACAM1	47707572	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	0.322000	0.19576	0.347000	0.23924	0.650000	0.86243	AAC		0.507	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		9	41	1	0	0.335167	1	0.3379	9	41				
C20orf197	284756	broad.mit.edu	37	20	58645071	58645071	+	Missense_Mutation	SNP	C	C	A	rs528562176		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:58645071C>A	ENST00000313426.1	+	3	348	c.42C>A	c.(40-42)gaC>gaA	p.D14E		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	14										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GGCAGGCAGACGGCTACGGGC	0.562																																						ENST00000313426.1																			0				large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(40-42)gaC>gaA		chromosome 20 open reading frame 197							52.0	56.0	55.0					20																	58645071		2203	4300	6503	SO:0001583	missense	284756							g.chr20:58645071C>A	AK091179	CCDS13487.1	20q13.33	2006-07-07			ENSG00000176659	ENSG00000176659			26601	protein-coding gene	gene with protein product						12975309	Standard	NM_173644		Approved	FLJ33860	uc002ybj.1	Q8N268	OTTHUMG00000032880	ENST00000313426.1:c.42C>A	20.37:g.58645071C>A	ENSP00000316457:p.Asp14Glu						p.D14E	NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.33e-09)		3	348	+			14					Q08EQ0	Missense_Mutation	SNP	ENST00000313426.1	37	c.42C>A	CCDS13487.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242343	0.22796	.	.	ENSG00000176659	ENST00000313426	.	.	.	3.37	-0.301	0.12800	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	8	0.08837	T	0.75	.	5.3701	0.16134	0.0:0.2005:0.396:0.4035	.	14	Q8N268	CT197_HUMAN	E	14	.	ENSP00000316457:D14E	D	+	3	2	C20orf197	58078466	0.007000	0.16637	0.001000	0.08648	0.003000	0.03518	0.415000	0.21181	0.210000	0.20664	-1.915000	0.00519	GAC		0.562	C20orf197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079944.1	NM_173644		28	58	1	0	1.06801e-11	1	1.37105e-11	28	58				
NPY	4852	broad.mit.edu	37	7	24324980	24324980	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:24324980C>A	ENST00000407573.1	+	3	411	c.121C>A	c.(121-123)Cca>Aca	p.P41T	NPY_ENST00000405982.1_Missense_Mutation_p.P41T|NPY_ENST00000242152.2_Missense_Mutation_p.P41T			P01303	NPY_HUMAN	neuropeptide Y	41					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGAGGACGCACCAGCGGAGGA	0.687																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(121-123)Cca>Aca		neuropeptide Y							83.0	63.0	70.0					7																	24324980		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324980C>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.121C>A	7.37:g.24324980C>A	ENSP00000384364:p.Pro41Thr					NPY_ENST00000242152.2_Missense_Mutation_p.P41T|NPY_ENST00000405982.1_Missense_Mutation_p.P41T	p.P41T			P01303	NPY_HUMAN			3	411	+			41						Missense_Mutation	SNP	ENST00000407573.1	37	c.121C>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344620	0.41498	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.41758	0.99;0.99;0.99	5.86	3.01	0.34805	.	0.194500	0.56097	D	0.000031	T	0.28532	0.0706	.	.	.	0.80722	D	1	B	0.25904	0.137	B	0.28849	0.095	T	0.04650	-1.0936	9	0.20519	T	0.43	-10.8253	9.2051	0.37285	0.0:0.7475:0.1208:0.1317	.	41	P01303	NPY_HUMAN	T	41	ENSP00000242152:P41T;ENSP00000384364:P41T;ENSP00000385282:P41T	ENSP00000242152:P41T	P	+	1	0	NPY	24291505	0.847000	0.29606	0.048000	0.18961	0.550000	0.35303	2.595000	0.46197	0.830000	0.34757	0.650000	0.86243	CCA		0.687	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		13	34	1	0	3.27435e-08	1	3.90606e-08	13	34				
CCDC88C	440193	broad.mit.edu	37	14	91787538	91787538	+	Missense_Mutation	SNP	C	C	T	rs554639813		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:91787538C>T	ENST00000389857.6	-	13	1539	c.1453G>A	c.(1453-1455)Gcg>Acg	p.A485T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	485					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACCAGGGACGCGTCCCGCAGC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19388	0.0		0.0	False		,,,				2504	0.0					ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1453-1455)Gcg>Acg		coiled-coil domain containing 88C							38.0	39.0	39.0					14																	91787538		1991	4156	6147	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91787538C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1453G>A	14.37:g.91787538C>T	ENSP00000374507:p.Ala485Thr						p.A485T	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			13	1539	-		all_cancers(154;0.0468)	485					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1453G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	7.191	0.591445	0.13812	.	.	ENSG00000015133	ENST00000389857	T	0.16897	2.31	5.28	3.41	0.39046	.	0.152814	0.29806	N	0.011156	T	0.08358	0.0208	N	0.12961	0.28	0.80722	D	1	B	0.19073	0.033	B	0.20955	0.032	T	0.16958	-1.0385	10	0.02654	T	1	-13.3049	10.6323	0.45543	0.132:0.7982:0.0:0.0698	.	485	Q9P219	DAPLE_HUMAN	T	485	ENSP00000374507:A485T	ENSP00000374507:A485T	A	-	1	0	CCDC88C	90857291	0.069000	0.21087	0.019000	0.16419	0.145000	0.21501	1.074000	0.30703	0.592000	0.29728	0.561000	0.74099	GCG		0.612	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		5	14	0	0	0	1	0	5	14				
PIGB	9488	broad.mit.edu	37	15	55647509	55647509	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:55647509G>A	ENST00000164305.5	+	12	1835	c.1544G>A	c.(1543-1545)aGc>aAc	p.S515N	CCPG1_ENST00000310958.6_3'UTR|CCPG1_ENST00000442196.3_3'UTR|DYX1C1-CCPG1_ENST00000565113.1_RNA|PIGB_ENST00000539642.1_Missense_Mutation_p.S320N	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	515					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTAATTTCAAGCAATTATAAA	0.343																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(1543-1545)aGc>aAc		phosphatidylinositol glycan anchor biosynthesis, class B							57.0	56.0	56.0					15																	55647509		1808	4069	5877	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55647509G>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1544G>A	15.37:g.55647509G>A	ENSP00000164305:p.Ser515Asn					CCPG1_ENST00000442196.3_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.S320N|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR	p.S515N	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	12	1835	+			515					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.1544G>A		.	.	.	.	.	.	.	.	.	.	G	4.098	0.016241	0.07959	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.59502	0.61;0.26	6.17	-0.267	0.12938	.	0.630508	0.18063	N	0.152877	T	0.28995	0.0720	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20338	-1.0278	10	0.11485	T	0.65	2.1001	11.7097	0.51618	0.5453:0.0:0.4547:0.0	.	515	Q92521	PIGB_HUMAN	N	515;320	ENSP00000164305:S515N;ENSP00000438963:S320N	ENSP00000164305:S515N	S	+	2	0	PIGB	53434801	0.036000	0.19791	0.036000	0.18154	0.622000	0.37654	1.854000	0.39368	0.040000	0.15660	-0.136000	0.14681	AGC		0.343	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		11	29	0	0	0	1	0	11	29				
AFF3	3899	broad.mit.edu	37	2	100210265	100210265	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:100210265C>T	ENST00000409236.2	-	13	1970	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	AFF3_ENST00000356421.2_Missense_Mutation_p.V645I|AFF3_ENST00000317233.4_Missense_Mutation_p.V620I|AFF3_ENST00000409579.1_Missense_Mutation_p.V645I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	620					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCGGGGGGACCACCACGCTC	0.741																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1858-1860)Gtc>Atc		AF4/FMR2 family, member 3							23.0	29.0	27.0					2																	100210265		2202	4293	6495	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210265C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1858G>A	2.37:g.100210265C>T	ENSP00000387207:p.Val620Ile					AFF3_ENST00000409579.1_Missense_Mutation_p.V645I|AFF3_ENST00000356421.2_Missense_Mutation_p.V645I|AFF3_ENST00000409236.1_Missense_Mutation_p.V620I	p.V620I	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2093	-			620					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1858G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	4.057	0.008410	0.07912	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	4.36	-3.45	0.04781	.	1.727610	0.03239	N	0.180039	T	0.41003	0.1140	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.0	T	0.10382	-1.0632	10	0.36615	T	0.2	.	1.5081	0.02490	0.1318:0.3967:0.13:0.3415	.	773;620;645	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	I	620;645;645;620;620;773;645	ENSP00000317421:V620I;ENSP00000348793:V645I;ENSP00000386834:V645I;ENSP00000387207:V620I	ENSP00000317421:V620I	V	-	1	0	AFF3	99576697	0.000000	0.05858	0.000000	0.03702	0.657000	0.38888	-0.253000	0.08794	-0.522000	0.06417	0.462000	0.41574	GTC		0.741	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		7	54	0	0	0	1	0	7	54				
TRADD	8717	broad.mit.edu	37	16	67188853	67188853	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:67188853G>A	ENST00000345057.4	-	5	1106	c.638C>T	c.(637-639)cCg>cTg	p.P213L	TRADD_ENST00000486556.1_Missense_Mutation_p.P153L|TRADD_ENST00000566104.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	213	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGGCTCAGCGGCCGATTCAC	0.711																																						ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(637-639)cCg>cTg		TNFRSF1A-associated via death domain							9.0	9.0	9.0					16																	67188853		1824	3641	5465	SO:0001583	missense	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67188853G>A	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.638C>T	16.37:g.67188853G>A	ENSP00000341268:p.Pro213Leu					TRADD_ENST00000486556.1_Missense_Mutation_p.P153L	p.P213L	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1106	-		Ovarian(137;0.0563)	213			Death.		B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	c.638C>T	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641564	0.47153	.	.	ENSG00000102871	ENST00000345057	.	.	.	5.0	5.0	0.66597	Death (1);DEATH-like (1);	0.242625	0.41712	D	0.000824	T	0.60104	0.2243	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.47786	0.557	T	0.57642	-0.7776	9	0.24483	T	0.36	-48.1327	17.0179	0.86424	0.0:0.0:1.0:0.0	.	213	Q15628	TRADD_HUMAN	L	213	.	ENSP00000341268:P213L	P	-	2	0	TRADD	65746354	1.000000	0.71417	0.977000	0.42913	0.783000	0.44284	3.408000	0.52651	2.598000	0.87819	0.462000	0.41574	CCG		0.711	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			3	18	0	0	0	1	0	3	18				
DGKK	139189	broad.mit.edu	37	X	50135408	50135408	+	RNA	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:50135408C>G	ENST00000376025.2	-	0	1694							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACCACAAACCAGAATGCGAA	0.453																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							99.0	91.0	94.0					X																	50135408		2000	4167	6167			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50135408C>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50135408C>G										Q5KSL6	DGKK_HUMAN			0	1694	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.453	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		26	27	0	0	0	1	0	26	27				
ROR2	4920	broad.mit.edu	37	9	94488898	94488898	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:94488898G>T	ENST00000375708.3	-	8	1509	c.1311C>A	c.(1309-1311)tcC>tcA	p.S437S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.S297S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	437					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGCGGTGTGGACGCAGATG	0.527																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1309-1311)tcC>tcA		receptor tyrosine kinase-like orphan receptor 2							111.0	92.0	98.0					9																	94488898		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94488898G>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1311C>A	9.37:g.94488898G>T						ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.S297S	p.S437S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			8	1509	-			437					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.1311C>A	CCDS6691.1																																																																																				0.527	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			45	42	1	0	1.03325e-14	1	1.38889e-14	45	42				
MCC	4163	broad.mit.edu	37	5	112676270	112676270	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:112676270C>T	ENST00000408903.3	-	3	988	c.573G>A	c.(571-573)caG>caA	p.Q191Q	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGTGCGGGGACTGTGTGAGCA	0.527																																						ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(571-573)caG>caA		mutated in colorectal cancers							72.0	77.0	75.0					5																	112676270		2050	4208	6258	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112676270C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.573G>A	5.37:g.112676270C>T						CTD-2201G3.1_ENST00000416046.2_RNA	p.Q191Q	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	3	988	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	0					D3DT05|Q6ZR04	Silent	SNP	ENST00000408903.3	37	c.573G>A	CCDS43351.1																																																																																				0.527	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		12	33	0	0	0	1	0	12	33				
UIMC1	51720	broad.mit.edu	37	5	176370346	176370346	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176370346C>T	ENST00000377227.4	-	10	1719	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	UIMC1_ENST00000377219.2_Silent_p.E529E|UIMC1_ENST00000506128.1_Silent_p.E363E|UIMC1_ENST00000511320.1_Silent_p.E529E|UIMC1_ENST00000503273.1_5'UTR			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	529	Zinc-finger-like region.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTATCTTCCTCCATCAGAC	0.438																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(1585-1587)gaG>gaA		ubiquitin interaction motif containing 1							248.0	241.0	243.0					5																	176370346		2203	4300	6503	SO:0001819	synonymous_variant	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176370346C>T	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1587G>A	5.37:g.176370346C>T						UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Silent_p.E363E|UIMC1_ENST00000511320.1_Silent_p.E529E|UIMC1_ENST00000377227.4_Silent_p.E529E	p.E529E	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1753	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	529			Zinc-finger-like region.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	37	c.1587G>A	CCDS4408.1																																																																																				0.438	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		61	166	0	0	0	1	0	61	166				
MIR297	100126354	broad.mit.edu	37	4	111781783	111781783	+	RNA	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:111781783G>A	ENST00000401142.1	-	0	20					NR_030643.1				microRNA 297																		acacatacatgcacatgcaca	0.323																																						ENST00000401142.1																			0																				58.0	57.0	57.0					4																	111781783		1568	3579	5147			100126354							g.chr4:111781783G>A			4q25	2011-09-12		2008-12-18	ENSG00000215961	ENSG00000215961		"""ncRNAs / Micro RNAs"""	33691	non-coding RNA	RNA, micro		615520		MIRN297			Standard	NR_030643		Approved	hsa-mir-297					4.37:g.111781783G>A								NR_030643.1						0	20	-									RNA	SNP	ENST00000401142.1	37																																																																																						0.323	MIR297-201	KNOWN	basic	miRNA	miRNA		NR_030643		13	32	0	0	0	1	0	13	32				
ZNF462	58499	broad.mit.edu	37	9	109701312	109701312	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:109701312C>A	ENST00000277225.5	+	7	6640	c.6351C>A	c.(6349-6351)atC>atA	p.I2117I	ZNF462_ENST00000542028.1_Silent_p.I74I|ZNF462_ENST00000441147.2_Silent_p.I1023I|ZNF462_ENST00000457913.1_Silent_p.I2177I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2117					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGCCACGGATCGTCAGTCTCC	0.547																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6349-6351)atC>atA		zinc finger protein 462							219.0	208.0	212.0					9																	109701312		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109701312C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6351C>A	9.37:g.109701312C>A						ZNF462_ENST00000441147.2_Silent_p.I1023I|ZNF462_ENST00000542028.1_Silent_p.I74I|ZNF462_ENST00000457913.1_Silent_p.I2177I	p.I2117I			Q96JM2	ZN462_HUMAN			7	6640	+			2117					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6351C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431199	0.25726	.	.	ENSG00000148143	ENST00000427098	.	.	.	5.71	-3.51	0.04696	.	.	.	.	.	T	0.62405	0.2425	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62001	-0.6946	4	.	.	.	.	13.0899	0.59162	0.0:0.3908:0.0:0.6092	.	.	.	.	S	19	.	.	R	+	1	0	ZNF462	108741133	0.536000	0.26378	0.981000	0.43875	0.972000	0.66771	-0.157000	0.10085	-0.468000	0.06922	-0.136000	0.14681	CGT		0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		150	263	1	0	1.23367e-73	1	1.7809e-73	150	263				
TNR	7143	broad.mit.edu	37	1	175365789	175365789	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:175365789C>G	ENST00000367674.2	-	5	1839	c.1131G>C	c.(1129-1131)tgG>tgC	p.W377C	TNR_ENST00000263525.2_Missense_Mutation_p.W377C			Q92752	TENR_HUMAN	tenascin R	377	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGACACCACTCCAATCTCCAG	0.597																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1129-1131)tgG>tgC		tenascin R							98.0	84.0	88.0					1																	175365789		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365789C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1131G>C	1.37:g.175365789C>G	ENSP00000356646:p.Trp377Cys					TNR_ENST00000263525.2_Missense_Mutation_p.W377C	p.W377C	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1839	-	Renal(580;0.146)		377			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1131G>C	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.73|18.73	3.685394|3.685394	0.68157|0.68157	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.56776	.|0.44;0.44	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.217962	.|0.41001	.|D	.|0.000969	T|T	0.64438|0.64438	0.2598|0.2598	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	B|P	0.31153|0.39282	0.31|0.666	B|P	0.28638|0.52481	0.092|0.7	T|T	0.60052|0.60052	-0.7338|-0.7338	7|10	.|0.49607	.|T	.|0.09	.|.	19.9958|19.9958	0.97383|0.97383	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	343|377	B4DIX8|Q92752	.|TENR_HUMAN	Q|C	102|377	.|ENSP00000356646:W377C;ENSP00000263525:W377C	.|ENSP00000263525:W377C	E|W	-|-	1|3	0|0	TNR|TNR	173632412|173632412	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.660000|1.660000	0.37397|0.37397	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		14	51	0	0	0	1	0	14	51				
OR5R1	219479	broad.mit.edu	37	11	56185277	56185277	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56185277C>A	ENST00000312253.1	-	1	431	c.432G>T	c.(430-432)ctG>ctT	p.L144L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	144						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAACTGCCACCAGTTGAATGC	0.453																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(430-432)ctG>ctT		olfactory receptor, family 5, subfamily R, member 1							106.0	108.0	107.0					11																	56185277		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185277C>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.432G>T	11.37:g.56185277C>A							p.L144L	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	431	-	Esophageal squamous(21;0.00448)		144						Silent	SNP	ENST00000312253.1	37	c.432G>T	CCDS31530.1																																																																																				0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		15	85	1	0	1.49906e-05	1	1.66015e-05	15	85				
EYS	346007	broad.mit.edu	37	6	66115185	66115185	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:66115185C>A	ENST00000370621.3	-	6	1464	c.938G>T	c.(937-939)aGt>aTt	p.S313I	EYS_ENST00000393380.2_Missense_Mutation_p.S313I|EYS_ENST00000342421.5_Missense_Mutation_p.S313I|EYS_ENST00000370616.2_Missense_Mutation_p.S313I|EYS_ENST00000503581.1_Missense_Mutation_p.S313I|EYS_ENST00000370618.3_Missense_Mutation_p.S313I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	313					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATAAGCAGAACTGCTATTTGG	0.383																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(937-939)aGt>aTt		eyes shut homolog (Drosophila)							162.0	167.0	165.0					6																	66115185		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115185C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.938G>T	6.37:g.66115185C>A	ENSP00000359655:p.Ser313Ile					EYS_ENST00000370616.2_Missense_Mutation_p.S313I|EYS_ENST00000370618.3_Missense_Mutation_p.S313I|EYS_ENST00000393380.2_Missense_Mutation_p.S313I|EYS_ENST00000370621.3_Missense_Mutation_p.S313I|EYS_ENST00000342421.5_Missense_Mutation_p.S313I	p.S313I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			6	1475	-			313					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.938G>T		.	.	.	.	.	.	.	.	.	.	C	8.957	0.969538	0.18659	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89415	-1.65;-1.64;-1.64;-2.51;-2.46;-2.46	4.89	-5.62	0.02481	.	.	.	.	.	T	0.43433	0.1247	N	0.05592	-0.015	0.09310	N	1	B;B;B	0.12630	0.005;0.006;0.003	B;B;B	0.16289	0.015;0.004;0.002	T	0.50415	-0.8831	9	0.05351	T	0.99	.	3.842	0.08918	0.1238:0.1652:0.1236:0.5875	.	313;313;313	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	313	ENSP00000424243:S313I;ENSP00000359655:S313I;ENSP00000359650:S313I;ENSP00000377042:S313I;ENSP00000341818:S313I;ENSP00000359652:S313I	ENSP00000341818:S313I	S	-	2	0	EYS	66171906	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.491000	0.06474	-0.734000	0.04843	-0.350000	0.07774	AGT		0.383	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		25	122	1	0	7.26314e-15	1	9.79864e-15	25	122				
PRDM9	56979	broad.mit.edu	37	5	23526527	23526527	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:23526527C>A	ENST00000296682.3	+	11	1512	c.1330C>A	c.(1330-1332)Cca>Aca	p.P444T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	444					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATATCCAGATCCACACAGCCG	0.473										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1330-1332)Cca>Aca		PR domain containing 9							73.0	72.0	72.0					5																	23526527		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526527C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1330C>A	5.37:g.23526527C>A	ENSP00000296682:p.Pro444Thr	HNSCC(3;0.000094)					p.P444T	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1512	+			444					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1330C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	7.693	0.691397	0.15039	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08102	3.13	2.71	0.15	0.14883	.	1.015180	0.07928	N	0.977049	T	0.06280	0.0162	M	0.62723	1.935	0.09310	N	1	P	0.35011	0.48	B	0.25759	0.063	T	0.39354	-0.9618	10	0.13108	T	0.6	-0.7489	0.4946	0.00569	0.2271:0.3396:0.2246:0.2087	.	444	Q9NQV7	PRDM9_HUMAN	T	444;238	ENSP00000296682:P444T	ENSP00000253473:P238T	P	+	1	0	PRDM9	23562284	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.373000	0.20484	0.006000	0.14734	0.505000	0.49811	CCA		0.473	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		14	53	1	0	0.00244969	1	0.00258928	14	53				
NRSN1	140767	broad.mit.edu	37	6	24145808	24145808	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:24145808C>A	ENST00000378491.4	+	4	523	c.222C>A	c.(220-222)atC>atA	p.I74I		NM_080723.4	NP_542454.3			neurensin 1									p.L75I(1)|p.I74I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TTTTTGTGATCCTCGGATTGA	0.512																																						ENST00000378491.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.L75I(1)|p.I74I(1)	lung(2)	breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(220-222)atC>atA		neurensin 1							114.0	115.0	115.0					6																	24145808		2203	4300	6503	SO:0001819	synonymous_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145808C>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.222C>A	6.37:g.24145808C>A							p.I74I	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN			4	523	+			74						Silent	SNP	ENST00000378491.4	37	c.222C>A	CCDS4549.1																																																																																				0.512	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		17	67	1	0	5.35267e-07	1	6.26448e-07	17	67				
WDR72	256764	broad.mit.edu	37	15	53889435	53889435	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:53889435C>A	ENST00000396328.1	-	18	3228	c.2989G>T	c.(2989-2991)Gtt>Ttt	p.V997F	WDR72_ENST00000360509.5_Missense_Mutation_p.V997F|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007F|WDR72_ENST00000557913.1_Missense_Mutation_p.V994F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	997										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTTGTTGAACTTCCGCCAAG	0.383																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2989-2991)Gtt>Ttt		WD repeat domain 72							219.0	202.0	208.0					15																	53889435		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53889435C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2989G>T	15.37:g.53889435C>A	ENSP00000379619:p.Val997Phe					WDR72_ENST00000360509.5_Missense_Mutation_p.V997F|WDR72_ENST00000557913.1_Missense_Mutation_p.V994F|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007F	p.V997F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3228	-			997					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2989G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695327	0.68386	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.52983	0.64;0.64	6.04	5.13	0.70059	.	0.000000	0.64402	D	0.000013	T	0.62889	0.2465	M	0.61703	1.905	0.34932	D	0.749417	D	0.69078	0.997	D	0.64595	0.927	T	0.74853	-0.3523	10	0.66056	D	0.02	.	12.571	0.56337	0.0:0.9229:0.0:0.0771	.	997	Q3MJ13	WDR72_HUMAN	F	997	ENSP00000379619:V997F;ENSP00000353699:V997F	ENSP00000353699:V997F	V	-	1	0	WDR72	51676727	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.488000	0.45276	1.568000	0.49683	0.563000	0.77884	GTT		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		44	79	1	0	1.76056e-25	1	2.53165e-25	44	79				
LRP2	4036	broad.mit.edu	37	2	170070338	170070338	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:170070338C>A	ENST00000263816.3	-	36	6154	c.5869G>T	c.(5869-5871)Gta>Tta	p.V1957L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1957					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGCTGGTGTACCAGGATCATT	0.383																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(5869-5871)Gta>Tta		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						82.0	80.0	81.0					2																	170070338		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170070338C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5869G>T	2.37:g.170070338C>A	ENSP00000263816:p.Val1957Leu						p.V1957L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	36	6154	-			1957					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.5869G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068290	0.36470	.	.	ENSG00000081479	ENST00000263816	D	0.90676	-2.71	5.96	4.19	0.49359	Six-bladed beta-propeller, TolB-like (1);	0.056198	0.64402	D	0.000001	D	0.86422	0.5929	L	0.48986	1.54	0.80722	D	1	B	0.21381	0.055	B	0.22601	0.04	T	0.79482	-0.1785	10	0.14252	T	0.57	.	13.0309	0.58840	0.0:0.8695:0.0:0.1305	.	1957	P98164	LRP2_HUMAN	L	1957	ENSP00000263816:V1957L	ENSP00000263816:V1957L	V	-	1	0	LRP2	169778584	1.000000	0.71417	0.985000	0.45067	0.668000	0.39293	4.810000	0.62598	0.873000	0.35799	-0.143000	0.13931	GTA		0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		11	43	1	0	4.68919e-08	1	5.57593e-08	11	43				
NLGN3	54413	broad.mit.edu	37	X	70384131	70384131	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:70384131T>C	ENST00000358741.3	+	6	1169	c.866T>C	c.(865-867)aTt>aCt	p.I289T	NLGN3_ENST00000374051.3_Missense_Mutation_p.I269T|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.I249T	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	289					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGCTCGGGCATTGGTGCATCC	0.592																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(805-807)aTt>aCt		neuroligin 3							77.0	67.0	70.0					X																	70384131		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70384131T>C	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.866T>C	X.37:g.70384131T>C	ENSP00000351591:p.Ile289Thr					NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.I289T|NLGN3_ENST00000536169.1_Missense_Mutation_p.I249T	p.I269T	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			5	1128	+	Renal(35;0.156)		289					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.806T>C	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	T	8.123	0.781472	0.16120	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.51	5.51	0.81932	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	N	0.00399	-1.545	0.58432	D	0.999995	B;B;B;B	0.15930	0.015;0.007;0.015;0.012	B;B;B;B	0.20384	0.029;0.028;0.029;0.017	T	0.35748	-0.9776	10	0.33141	T	0.24	.	14.6715	0.68948	0.0:0.0:0.0:1.0	.	249;249;289;269	D3DVV1;B7Z5Y1;Q9NZ94;Q9NZ94-2	.;.;NLGN3_HUMAN;.	T	249;152;269;249;289	ENSP00000445298:I249T;ENSP00000363163:I269T;ENSP00000379196:I249T;ENSP00000351591:I289T	ENSP00000351591:I289T	I	+	2	0	NLGN3	70300856	1.000000	0.71417	0.953000	0.39169	0.386000	0.30323	4.128000	0.57951	2.041000	0.60428	0.483000	0.47432	ATT		0.592	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		12	15	0	0	0	1	0	12	15				
SVEP1	79987	broad.mit.edu	37	9	113276288	113276288	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:113276288T>C	ENST00000401783.2	-	4	1399	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	355					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGGGATGTGCTTCCAGGT	0.507																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1063-1065)Aca>Gca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							72.0	71.0	71.0					9																	113276288		2004	4179	6183	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113276288T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1063A>G	9.37:g.113276288T>C	ENSP00000384917:p.Thr355Ala					SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A	p.T355A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			4	1399	-			355					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1063A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247229	0.80024	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.88	4.73	0.59995	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.049298	0.85682	D	0.000000	T	0.42854	0.1221	M	0.79258	2.445	0.37752	D	0.925993	D;D;D;D	0.89917	0.992;1.0;0.998;0.995	P;D;D;P	0.87578	0.851;0.998;0.977;0.847	T	0.51426	-0.8707	10	0.72032	D	0.01	.	13.2119	0.59830	0.0:0.0:0.133:0.867	.	355;355;355;355	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	A	355;332;355;332	ENSP00000384917:T355A;ENSP00000363593:T332A;ENSP00000304118:T355A;ENSP00000363585:T332A	ENSP00000304118:T355A	T	-	1	0	SVEP1	112316109	1.000000	0.71417	0.940000	0.37924	0.810000	0.45777	7.673000	0.83973	1.024000	0.39682	0.528000	0.53228	ACA		0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	14	0	0	0	1	0	12	14				
LRRIQ3	127255	broad.mit.edu	37	1	74621485	74621485	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:74621485C>G	ENST00000395089.1	-	3	638	c.639G>C	c.(637-639)ctG>ctC	p.L213L	LRRIQ3_ENST00000354431.4_Silent_p.L213L|LRRIQ3_ENST00000370909.2_Silent_p.L105L|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	213										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AATTATGAGCCAGAATTGCAT	0.244																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(637-639)ctG>ctC		leucine-rich repeats and IQ motif containing 3							50.0	48.0	49.0					1																	74621485		1781	4027	5808	SO:0001819	synonymous_variant	127255							g.chr1:74621485C>G	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.639G>C	1.37:g.74621485C>G						LRRIQ3_ENST00000370909.2_Silent_p.L105L|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Silent_p.L213L	p.L213L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			4	830	-			213					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.639G>C	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	6.562	0.472023	0.12461	.	.	ENSG00000162620	ENST00000444984	.	.	.	4.75	3.78	0.43462	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40997	-0.9533	4	.	.	.	.	6.5247	0.22295	0.181:0.7207:0.0:0.0984	.	.	.	.	R	48	.	.	G	-	1	0	LRRIQ3	74394073	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.035000	0.30216	2.369000	0.80426	0.655000	0.94253	GGC		0.244	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		4	34	0	0	0	1	0	4	34				
OR5T3	390154	broad.mit.edu	37	11	56019812	56019812	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56019812G>T	ENST00000303059.3	+	1	137	c.137G>T	c.(136-138)gGc>gTc	p.G46V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATTGACAGGCTTCACAGAT	0.373																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(136-138)gGc>gTc		olfactory receptor, family 5, subfamily T, member 3							113.0	114.0	114.0					11																	56019812		2201	4296	6497	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019812G>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.137G>T	11.37:g.56019812G>T	ENSP00000305403:p.Gly46Val						p.G46V	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	137	+	Esophageal squamous(21;0.00448)		46					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.137G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040438	0.55003	.	.	ENSG00000172489	ENST00000303059	T	0.00659	5.94	4.75	3.84	0.44239	.	0.000000	0.42053	D	0.000778	T	0.05181	0.0138	M	0.92268	3.29	0.53688	D	0.999979	D	0.76494	0.999	D	0.76575	0.988	T	0.00653	-1.1625	10	0.87932	D	0	.	7.8894	0.29669	0.1518:0.1349:0.7132:0.0	.	46	Q8NGG3	OR5T3_HUMAN	V	46	ENSP00000305403:G46V	ENSP00000305403:G46V	G	+	2	0	OR5T3	55776388	0.998000	0.40836	0.247000	0.24249	0.091000	0.18340	3.511000	0.53400	1.368000	0.46115	0.643000	0.83706	GGC		0.373	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		4	49	1	0	0.000602214	1	0.000643866	4	49				
TMOD3	29766	broad.mit.edu	37	15	52188669	52188669	+	Silent	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:52188669A>T	ENST00000308580.7	+	7	962	c.681A>T	c.(679-681)acA>acT	p.T227T	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Silent_p.T227T	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	227						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAACCAACACACATGTGAAAT	0.373																																					Colon(122;1837 2251 18387 22826)	ENST00000308580.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14						c.(679-681)acA>acT		tropomodulin 3 (ubiquitous)							111.0	108.0	109.0					15																	52188669		2195	4293	6488	SO:0001819	synonymous_variant	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52188669A>T	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.681A>T	15.37:g.52188669A>T						TMOD3_ENST00000544199.1_Silent_p.T227T|RP11-56B16.5_ENST00000558142.1_RNA	p.T227T	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	7	962	+			227					B2R6G7|Q9NT43|Q9NZR0	Silent	SNP	ENST00000308580.7	37	c.681A>T	CCDS10145.1																																																																																				0.373	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			14	89	0	0	0	1	0	14	89				
SH3BP4	23677	broad.mit.edu	37	2	235951209	235951209	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:235951209C>A	ENST00000409212.1	+	4	2303	c.1796C>A	c.(1795-1797)gCc>gAc	p.A599D	SH3BP4_ENST00000392011.2_Missense_Mutation_p.A599D|SH3BP4_ENST00000344528.4_Missense_Mutation_p.A599D			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	599					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GACCAGGAGGCCATCCTCACC	0.582																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1795-1797)gCc>gAc		SH3-domain binding protein 4							61.0	61.0	61.0					2																	235951209		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951209C>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1796C>A	2.37:g.235951209C>A	ENSP00000386862:p.Ala599Asp					SH3BP4_ENST00000344528.4_Missense_Mutation_p.A599D|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A599D	p.A599D			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2303	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	599					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1796C>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	9.006	0.981254	0.18812	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.10192	2.9;2.9;2.9	5.08	5.08	0.68730	.	0.167110	0.52532	D	0.000078	T	0.09642	0.0237	L	0.44542	1.39	0.31861	N	0.620978	B;B	0.28713	0.22;0.22	B;B	0.25140	0.058;0.058	T	0.08493	-1.0719	10	0.13470	T	0.59	-27.5465	12.8753	0.57988	0.0:0.8362:0.1638:0.0	.	599;599	A8K594;Q9P0V3	.;SH3B4_HUMAN	D	599	ENSP00000375867:A599D;ENSP00000386862:A599D;ENSP00000340237:A599D	ENSP00000340237:A599D	A	+	2	0	SH3BP4	235615948	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	4.910000	0.63321	2.354000	0.79902	0.655000	0.94253	GCC		0.582	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			15	65	1	0	2.23348e-06	1	2.54961e-06	15	65				
MAGI1	9223	broad.mit.edu	37	3	65342361	65342361	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:65342361G>A	ENST00000402939.2	-	23	4080	c.4081C>T	c.(4081-4083)Cgc>Tgc	p.R1361C	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1390					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.R1361S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTCTCCTGCGGGTGGGTGAC	0.697																																						ENST00000402939.2																			1	Substitution - Missense(1)	p.R1361S(1)	lung(1)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(4081-4083)Cgc>Tgc		membrane associated guanylate kinase, WW and PDZ domain containing 1							30.0	33.0	32.0					3																	65342361		2203	4298	6501	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342361G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4081C>T	3.37:g.65342361G>A	ENSP00000385450:p.Arg1361Cys					MAGI1_ENST00000330909.8_3'UTR	p.R1361C	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4080	-		Lung NSC(201;0.0016)	1390					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.4081C>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318445	0.40996	.	.	ENSG00000151276	ENST00000402939	T	0.12465	2.68	5.31	5.31	0.75309	.	0.290326	0.32753	N	0.005699	T	0.15825	0.0381	L	0.27053	0.805	0.80722	D	1	D	0.54772	0.968	P	0.47015	0.534	T	0.01071	-1.1461	10	0.62326	D	0.03	-10.9568	17.7419	0.88409	0.0:0.0:1.0:0.0	.	1361	Q96QZ7-2	.	C	1361	ENSP00000385450:R1361C	ENSP00000385450:R1361C	R	-	1	0	MAGI1	65317401	0.577000	0.26708	0.890000	0.34922	0.639000	0.38242	2.908000	0.48750	2.479000	0.83701	0.655000	0.94253	CGC		0.697	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		16	39	0	0	0	1	0	16	39				
C4orf29	80167	broad.mit.edu	37	4	128938657	128938657	+	Splice_Site	SNP	G	G	A	rs550278588		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:128938657G>A	ENST00000444616.1	+	8	856		c.e8+1		C4orf29_ENST00000388795.5_Splice_Site|C4orf29_ENST00000398965.1_Splice_Site			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGGAGGACACGTAAGCCTTTT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		15152	0.0		0.001	False		,,,				2504	0.0					ENST00000388795.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.e8+1		chromosome 4 open reading frame 29							45.0	39.0	41.0					4																	128938657		1812	4072	5884	SO:0001630	splice_region_variant	80167					extracellular region		g.chr4:128938657G>A	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.609+1G>A	4.37:g.128938657G>A						C4orf29_ENST00000398965.1_Splice_Site|C4orf29_ENST00000444616.1_Splice_Site				Q0P651	CD029_HUMAN			8	766	+								A1A4W8|A1A4W9|Q9H7A7	Splice_Site	SNP	ENST00000444616.1	37			.	.	.	.	.	.	.	.	.	.	G	29.7	5.032188	0.93575	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.417	0.99027	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C4orf29	129158107	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	9.265000	0.95647	2.832000	0.97577	0.585000	0.79938	.		0.378	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717	Intron	4	11	0	0	0	1	0	4	11				
PCDHA13	56136	broad.mit.edu	37	5	140263782	140263782	+	Silent	SNP	G	G	C	rs146010500		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:140263782G>C	ENST00000289272.2	+	1	1929	c.1929G>C	c.(1927-1929)ccG>ccC	p.P643P	PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P643P|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGCGCCGCACCACCGCC	0.701																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1927-1929)ccG>ccC									49.0	50.0	50.0					5																	140263782		2203	4298	6501	SO:0001819	synonymous_variant	56136							g.chr5:140263782G>C	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1929G>C	5.37:g.140263782G>C						PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.P643P|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.P643P	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1929	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1929G>C	CCDS4240.1																																																																																				0.701	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		32	86	0	0	0	1	0	32	86				
ASPM	259266	broad.mit.edu	37	1	197111913	197111913	+	Missense_Mutation	SNP	C	C	A	rs545470771	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:197111913C>A	ENST00000367409.4	-	3	1725	c.1469G>T	c.(1468-1470)cGt>cTt	p.R490L	ASPM_ENST00000294732.7_Missense_Mutation_p.R490L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	490					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R490H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTATTGGACGTCTCTTAGG	0.338																																						ENST00000367409.4																			1	Substitution - Missense(1)	p.R490H(1)	large_intestine(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1468-1470)cGt>cTt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							132.0	136.0	135.0					1																	197111913		2202	4300	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111913C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1469G>T	1.37:g.197111913C>A	ENSP00000356379:p.Arg490Leu					ASPM_ENST00000294732.7_Missense_Mutation_p.R490L	p.R490L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1725	-			490					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1469G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279213	0.40294	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.60920	0.15;1.41	5.44	4.53	0.55603	.	0.174918	0.41712	D	0.000822	T	0.66066	0.2752	M	0.69823	2.125	0.28277	N	0.924154	D;D	0.64830	0.994;0.994	P;P	0.58520	0.84;0.75	T	0.61207	-0.7109	10	0.37606	T	0.19	.	7.2906	0.26364	0.0:0.7116:0.1401:0.1483	.	490;490	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	L	490	ENSP00000356379:R490L;ENSP00000294732:R490L	ENSP00000294732:R490L	R	-	2	0	ASPM	195378536	0.929000	0.31497	0.998000	0.56505	0.713000	0.41058	1.699000	0.37804	1.417000	0.47077	0.643000	0.83706	CGT		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	75	1	0	7.03913e-09	1	8.53437e-09	12	75				
HIST1H1B	3009	broad.mit.edu	37	6	27835199	27835199	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:27835199T>G	ENST00000331442.3	-	1	160	c.109A>C	c.(109-111)Aaa>Caa	p.K37Q		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	37					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCCGTCGCTTTGCGCTTAGCA	0.617																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(109-111)Aaa>Caa		histone cluster 1, H1b							41.0	49.0	46.0					6																	27835199		2198	4300	6498	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835199T>G	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.109A>C	6.37:g.27835199T>G	ENSP00000330074:p.Lys37Gln						p.K37Q	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	160	-			37					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.109A>C	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933310	0.73442	.	.	ENSG00000184357	ENST00000331442	T	0.11604	2.76	5.43	5.43	0.79202	Histone H1/H5 (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.173985	0.49305	D	0.000146	T	0.09818	0.0241	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.39840	-0.9594	10	0.87932	D	0	-5.9587	14.9769	0.71281	0.0:0.0:0.0:1.0	.	37	P16401	H15_HUMAN	Q	37	ENSP00000330074:K37Q	ENSP00000330074:K37Q	K	-	1	0	HIST1H1B	27943178	0.988000	0.35896	1.000000	0.80357	0.636000	0.38137	-0.012000	0.12699	2.194000	0.70268	0.533000	0.62120	AAA		0.617	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		26	76	0	0	0	1	0	26	76				
PKHD1	5314	broad.mit.edu	37	6	51917886	51917886	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:51917886T>A	ENST00000371117.3	-	21	2403	c.2128A>T	c.(2128-2130)Aca>Tca	p.T710S	PKHD1_ENST00000340994.4_Missense_Mutation_p.T710S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	710					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTACGTTTGTGTCTGCAATA	0.478																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2128-2130)Aca>Tca		polycystic kidney and hepatic disease 1 (autosomal recessive)							69.0	68.0	68.0					6																	51917886		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51917886T>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2128A>T	6.37:g.51917886T>A	ENSP00000360158:p.Thr710Ser					PKHD1_ENST00000340994.4_Missense_Mutation_p.T710S	p.T710S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			21	2403	-	Lung NSC(77;0.0605)		710					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2128A>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.287295	0.40494	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87103	-2.0;-2.21	5.63	4.4	0.53042	.	0.244102	0.35179	N	0.003389	T	0.78792	0.4339	L	0.50333	1.59	0.24579	N	0.993881	P;P	0.44241	0.829;0.688	P;B	0.45913	0.497;0.169	T	0.71090	-0.4693	10	0.30854	T	0.27	.	11.9766	0.53096	0.0:0.0:0.1444:0.8556	.	710;710	P08F94-2;P08F94	.;PKHD1_HUMAN	S	710	ENSP00000360158:T710S;ENSP00000341097:T710S	ENSP00000341097:T710S	T	-	1	0	PKHD1	52025845	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	2.444000	0.44890	2.281000	0.76405	0.533000	0.62120	ACA		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		7	24	0	0	0	1	0	7	24				
MAPT	4137	broad.mit.edu	37	17	44061064	44061064	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:44061064C>G	ENST00000571987.1	+	5	894	c.894C>G	c.(892-894)ccC>ccG	p.P298P	MAPT_ENST00000347967.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.P298P|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.P298P|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Silent_p.P298P			P10636	TAU_HUMAN	microtubule-associated protein tau	298					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	AGGATGCCCCCCTGGAGTTCA	0.617																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(892-894)ccC>ccG		microtubule-associated protein tau							43.0	48.0	46.0					17																	44061064		2203	4300	6503	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44061064C>G	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.894C>G	17.37:g.44061064C>G						MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.P298P|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.P298P|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Silent_p.P298P|MAPT_ENST00000570299.1_Intron	p.P298P	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	1216	+		Melanoma(429;0.216)	298					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.894C>G	CCDS11501.1																																																																																				0.617	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		10	64	0	0	0	1	0	10	64				
RP1	6101	broad.mit.edu	37	8	55533822	55533822	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:55533822A>G	ENST00000220676.1	+	2	444	c.296A>G	c.(295-297)gAg>gGg	p.E99G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	99	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGAGCTGGAGGACGGCGAG	0.657																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(295-297)gAg>gGg		retinitis pigmentosa 1 (autosomal dominant)							71.0	63.0	66.0					8																	55533822		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533822A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.296A>G	8.37:g.55533822A>G	ENSP00000220676:p.Glu99Gly						p.E99G	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	444	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	99			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.296A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.603218	0.66445	.	.	ENSG00000104237	ENST00000220676	D	0.93488	-3.23	5.17	5.17	0.71159	Doublecortin domain (5);	0.000000	0.56097	D	0.000022	D	0.96772	0.8946	M	0.87827	2.91	0.47183	D	0.999345	D	0.63880	0.993	D	0.68039	0.955	D	0.97521	1.0073	10	0.87932	D	0	-8.5874	15.0205	0.71627	1.0:0.0:0.0:0.0	.	99	P56715	RP1_HUMAN	G	99	ENSP00000220676:E99G	ENSP00000220676:E99G	E	+	2	0	RP1	55696375	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	6.215000	0.72206	1.956000	0.56807	0.528000	0.53228	GAG		0.657	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		25	135	0	0	0	1	0	25	135				
TNRC6C	57690	broad.mit.edu	37	17	76082941	76082941	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:76082941G>A	ENST00000588061.1	+	15	4296	c.3569G>A	c.(3568-3570)cGc>cAc	p.R1190H	TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1187H|TNRC6C_ENST00000335749.4_Missense_Mutation_p.R1187H|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1190H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1187H			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1190					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGTTGCGCGCACAATCACT	0.592																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(3559-3561)cGc>cAc		trinucleotide repeat containing 6C							100.0	109.0	106.0					17																	76082941		2138	4245	6383	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76082941G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3569G>A	17.37:g.76082941G>A	ENSP00000468647:p.Arg1190His					TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1190H|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1187H|TNRC6C_ENST00000588061.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1187H	p.R1187H	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		13	4129	+			1190					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.3560G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339352	0.95783	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.19938	2.16;2.11;2.11;2.16	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.43294	-0.9400	10	0.48119	T	0.1	-12.3555	19.5379	0.95262	0.0:0.0:1.0:0.0	.	1187;1190	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	H	1190;1187;1187;1190;1190;1187	ENSP00000336783:R1187H;ENSP00000301624:R1190H;ENSP00000440310:R1190H;ENSP00000442421:R1187H	ENSP00000301624:R1190H	R	+	2	0	TNRC6C	73594536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.618000	0.88619	0.591000	0.81541	CGC		0.592	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		15	154	0	0	0	1	0	15	154				
OR4C6	219432	broad.mit.edu	37	11	55433060	55433060	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55433060T>A	ENST00000314259.3	+	1	447	c.418T>A	c.(418-420)Tgc>Agc	p.C140S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACGGGTGTGCTGCCTAATGGT	0.507																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(418-420)Tgc>Agc		olfactory receptor, family 4, subfamily C, member 6							96.0	92.0	93.0					11																	55433060		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433060T>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.418T>A	11.37:g.55433060T>A	ENSP00000324769:p.Cys140Ser						p.C140S	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	447	+			140					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.418T>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	T	0.915	-0.717839	0.03182	.	.	ENSG00000181903	ENST00000314259	T	0.36340	1.26	3.77	-2.37	0.06643	GPCR, rhodopsin-like superfamily (1);	1.513740	0.04174	N	0.325325	T	0.12689	0.0308	N	0.02266	-0.62	0.09310	N	1	P	0.37688	0.605	B	0.36766	0.232	T	0.05241	-1.0897	10	0.07482	T	0.82	.	5.2995	0.15770	0.0:0.3998:0.1599:0.4403	.	140	Q8NH72	OR4C6_HUMAN	S	140	ENSP00000324769:C140S	ENSP00000324769:C140S	C	+	1	0	OR4C6	55189636	0.000000	0.05858	0.014000	0.15608	0.150000	0.21749	-4.240000	0.00268	-0.882000	0.03987	-0.428000	0.05917	TGC		0.507	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		11	83	0	0	0	1	0	11	83				
NPAS3	64067	broad.mit.edu	37	14	33684485	33684485	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:33684485C>G	ENST00000356141.4	+	3	238	c.238C>G	c.(238-240)Ctt>Gtt	p.L80V	NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000548645.1_Missense_Mutation_p.L50V|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.L50V|NPAS3_ENST00000346562.2_Missense_Mutation_p.L50V|NPAS3_ENST00000341321.4_Missense_Mutation_p.L80V|NPAS3_ENST00000551492.1_Missense_Mutation_p.L87V			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	80	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.			PLP -> LS (in Ref. 4; CAB45154). {ECO:0000305}.	locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTTGTTGCCTCTTCCTGCAGC	0.488																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(148-150)Ctt>Gtt		neuronal PAS domain protein 3							105.0	104.0	104.0					14																	33684485		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33684485C>G	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.238C>G	14.37:g.33684485C>G	ENSP00000348460:p.Leu80Val					NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.L50V|NPAS3_ENST00000341321.4_Missense_Mutation_p.L80V|NPAS3_ENST00000356141.4_Missense_Mutation_p.L80V|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000548645.1_Missense_Mutation_p.L50V|NPAS3_ENST00000551492.1_Missense_Mutation_p.L87V	p.L50V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	2	222	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		80					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.148C>G	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831244	0.91036	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.97941	3.3;3.19;3.2;-4.62;3.19;3.16;2.99	5.83	5.83	0.93111	Helix-loop-helix DNA-binding (4);	0.000000	0.56097	D	0.000021	D	0.98257	0.9423	M	0.67517	2.055	0.80722	D	1	P;P;P;P	0.50710	0.938;0.577;0.702;0.938	P;P;P;P	0.58077	0.832;0.573;0.646;0.832	D	0.98760	1.0724	10	0.66056	D	0.02	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	50;80;50;50	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	V	57;87;50;80;50;80;50	ENSP00000448373:L57V;ENSP00000450392:L87V;ENSP00000319610:L50V;ENSP00000344158:L80V;ENSP00000448916:L50V;ENSP00000348460:L80V;ENSP00000350446:L50V	ENSP00000344158:L80V	L	+	1	0	NPAS3	32754236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.088000	0.71371	2.757000	0.94681	0.563000	0.77884	CTT		0.488	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			34	87	0	0	0	1	0	34	87				
LOC728323	728323	broad.mit.edu	37	2	243056831	243056831	+	RNA	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:243056831A>G	ENST00000456398.1	+	0	352																											AATAATGAAGAGCATGAATAT	0.264																																						ENST00000456398.1																			0																																																			728323							g.chr2:243056831A>G																													2.37:g.243056831A>G														0	352	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.264	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			11	23	0	0	0	1	0	11	23				
MACROD2	140733	broad.mit.edu	37	20	15866440	15866440	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:15866440A>C	ENST00000310348.4	+	10	759	c.759A>C	c.(757-759)gaA>gaC	p.E253D	MACROD2_ENST00000217246.4_Missense_Mutation_p.E253D|MACROD2_ENST00000378058.3_Missense_Mutation_p.E18D|MACROD2_ENST00000402914.1_Missense_Mutation_p.E18D			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	253	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGATGTTGAAATGAAAGAAG	0.299																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(757-759)gaA>gaC		MACRO domain containing 2							81.0	98.0	92.0					20																	15866440		2196	4293	6489	SO:0001583	missense	140733							g.chr20:15866440A>C	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.759A>C	20.37:g.15866440A>C	ENSP00000309809:p.Glu253Asp					MACROD2_ENST00000310348.4_Missense_Mutation_p.E253D|MACROD2_ENST00000378058.3_Missense_Mutation_p.E18D|MACROD2_ENST00000402914.1_Missense_Mutation_p.E18D	p.E253D	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			10	1154	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	253			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.759A>C	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	1.575	-0.533243	0.04082	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.37915	2.46;2.45;1.17;1.17	5.35	2.05	0.26809	.	0.127237	0.36101	N	0.002795	T	0.11665	0.0284	N	0.01493	-0.835	0.20703	N	0.999869	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30534	-0.9975	10	0.08599	T	0.76	-8.4349	10.8613	0.46829	0.5725:0.4275:0.0:0.0	.	253;253	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	D	253;253;18;18	ENSP00000217246:E253D;ENSP00000309809:E253D;ENSP00000385290:E18D;ENSP00000367297:E18D	ENSP00000217246:E253D	E	+	3	2	MACROD2	15814440	0.994000	0.37717	1.000000	0.80357	0.806000	0.45545	0.024000	0.13555	0.830000	0.34757	0.533000	0.62120	GAA		0.299	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		22	91	0	0	0	1	0	22	91				
NLRP2	55655	broad.mit.edu	37	19	55493823	55493823	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55493823C>A	ENST00000543010.1	+	6	900	c.757C>A	c.(757-759)Ctg>Atg	p.L253M	NLRP2_ENST00000537859.1_Missense_Mutation_p.L231M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L230M|NLRP2_ENST00000391721.4_Missense_Mutation_p.L229M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L250M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L253M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L229M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L231M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	253	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTCAGCCGCCTGGGCCCGTG	0.532																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(757-759)Ctg>Atg		NLR family, pyrin domain containing 2							51.0	48.0	49.0					19																	55493823		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493823C>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.757C>A	19.37:g.55493823C>A	ENSP00000445135:p.Leu253Met					NLRP2_ENST00000538819.1_Missense_Mutation_p.L229M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L250M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L253M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L230M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L231M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L231M|NLRP2_ENST00000391721.4_Missense_Mutation_p.L229M	p.L253M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	900	+			253			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.757C>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	0.844	-0.741041	0.03088	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	1.41	-2.75	0.05914	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.57344	0.2047	N	0.25485	0.75	0.09310	N	1	B;B;B;B;B	0.29232	0.091;0.2;0.238;0.2;0.238	B;B;B;B;B	0.27380	0.065;0.047;0.079;0.047;0.079	T	0.39820	-0.9595	9	0.26408	T	0.33	.	3.6219	0.08099	0.4697:0.2172:0.3132:0.0	.	230;231;250;229;253	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	253;229;231;253;231;230;229;250	ENSP00000445135:L253M;ENSP00000375601:L229M;ENSP00000344074:L231M;ENSP00000409370:L253M;ENSP00000440601:L231M;ENSP00000402474:L230M;ENSP00000441133:L229M;ENSP00000263437:L250M	ENSP00000263437:L250M	L	+	1	2	NLRP2	60185635	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.429000	0.01025	-0.964000	0.03595	-0.515000	0.04445	CTG		0.532	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		16	43	1	0	1.3612e-06	1	1.56834e-06	16	43				
UGT2A3	79799	broad.mit.edu	37	4	69795751	69795751	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:69795751A>C	ENST00000251566.4	-	6	1394	c.1364T>G	c.(1363-1365)cTa>cGa	p.L455R	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L166R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	455					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTCGATCTAGGGGCTTTAC	0.453																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1363-1365)cTa>cGa		UDP glucuronosyltransferase 2 family, polypeptide A3							97.0	100.0	99.0					4																	69795751		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795751A>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1364T>G	4.37:g.69795751A>C	ENSP00000251566:p.Leu455Arg					UGT2A3_ENST00000420231.2_Missense_Mutation_p.L166R	p.L455R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			6	1394	-			455					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1364T>G	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.697121	0.30142	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.73469	-0.75;-0.75	2.22	2.22	0.28083	.	0.180732	0.37261	N	0.002179	D	0.84000	0.5376	M	0.82517	2.595	0.32044	N	0.597841	D	0.89917	1.0	D	0.87578	0.998	D	0.84210	0.0455	10	0.87932	D	0	.	7.9616	0.30074	1.0:0.0:0.0:0.0	.	455	Q6UWM9	UD2A3_HUMAN	R	455;166	ENSP00000251566:L455R;ENSP00000440115:L166R	ENSP00000251566:L455R	L	-	2	0	UGT2A3	69830340	1.000000	0.71417	0.871000	0.34182	0.141000	0.21300	4.693000	0.61753	1.027000	0.39758	0.402000	0.26972	CTA		0.453	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		18	89	0	0	0	1	0	18	89				
ACKR2	1238	broad.mit.edu	37	3	42906309	42906309	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:42906309C>G	ENST00000422265.1	+	3	490	c.315C>G	c.(313-315)tcC>tcG	p.S105S	ACKR2_ENST00000273145.2_Silent_p.S105S|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.S105S|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	105					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GGGGCATCTCCGTGGCCTGGC	0.493																																						ENST00000422265.1																			0											c.(313-315)tcC>tcG		atypical chemokine receptor 2							146.0	145.0	145.0					3																	42906309		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906309C>G	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.315C>G	3.37:g.42906309C>G						ACKR2_ENST00000273145.2_Silent_p.S105S|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.S105S	p.S105S	NM_001296.4	NP_001287.2					3	490	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.315C>G	CCDS2706.1																																																																																				0.493	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		38	79	0	0	0	1	0	38	79				
ATF4	468	broad.mit.edu	37	22	39918236	39918236	+	Missense_Mutation	SNP	C	C	A	rs547982920		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:39918236C>A	ENST00000337304.2	+	2	1567	c.685C>A	c.(685-687)Ctg>Atg	p.L229M	ATF4_ENST00000404241.2_Missense_Mutation_p.L229M|ATF4_ENST00000396680.1_Missense_Mutation_p.L229M	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	229					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	AGAGTCCTATCTGGGGTCTCC	0.537																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(685-687)Ctg>Atg		activating transcription factor 4							26.0	25.0	25.0					22																	39918236		2202	4300	6502	SO:0001583	missense	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39918236C>A	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.685C>A	22.37:g.39918236C>A	ENSP00000336790:p.Leu229Met					ATF4_ENST00000396680.1_Missense_Mutation_p.L229M|ATF4_ENST00000404241.2_Missense_Mutation_p.L229M	p.L229M	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			2	1567	+	Melanoma(58;0.04)		229					Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	c.685C>A	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	C	4.132	0.022727	0.08006	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.26957	1.7;1.7;1.7	5.24	-0.337	0.12654	.	0.391828	0.24236	N	0.040302	T	0.23249	0.0562	L	0.51422	1.61	0.09310	N	1	P	0.35383	0.498	B	0.37833	0.259	T	0.18681	-1.0329	10	0.87932	D	0	-11.1708	10.0693	0.42324	0.0:0.4296:0.0:0.5704	.	229	P18848	ATF4_HUMAN	M	229	ENSP00000384587:L229M;ENSP00000336790:L229M;ENSP00000379912:L229M	ENSP00000336790:L229M	L	+	1	2	ATF4	38248182	0.000000	0.05858	0.000000	0.03702	0.499000	0.33736	-0.506000	0.06359	-0.014000	0.14175	-0.448000	0.05591	CTG		0.537	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		3	16	1	0	0.014758	1	0.0151668	3	16				
CNTN6	27255	broad.mit.edu	37	3	1425006	1425006	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:1425006C>G	ENST00000446702.2	+	19	3058	c.2431C>G	c.(2431-2433)Ctc>Gtc	p.L811V	CNTN6_ENST00000350110.2_Missense_Mutation_p.L811V|CNTN6_ENST00000539053.1_Missense_Mutation_p.L739V			Q9UQ52	CNTN6_HUMAN	contactin 6	811	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGAACTTCTCTCCAGAGTTT	0.433																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2431-2433)Ctc>Gtc		contactin 6							190.0	199.0	196.0					3																	1425006		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1425006C>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2431C>G	3.37:g.1425006C>G	ENSP00000407822:p.Leu811Val					CNTN6_ENST00000350110.2_Missense_Mutation_p.L811V|CNTN6_ENST00000539053.1_Missense_Mutation_p.L739V	p.L811V			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	19	3058	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	811			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2431C>G	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	8.243	0.807318	0.16467	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53206	0.63;0.63;0.63	5.58	4.71	0.59529	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.401225	0.21041	N	0.081180	T	0.17152	0.0412	N	0.01284	-0.91	0.20926	N	0.999826	B	0.02656	0.0	B	0.04013	0.001	T	0.16837	-1.0389	10	0.02654	T	1	.	11.6343	0.51194	0.0:0.1347:0.7262:0.1391	.	811	Q9UQ52	CNTN6_HUMAN	V	811;739;811	ENSP00000407822:L811V;ENSP00000442791:L739V;ENSP00000341882:L811V	ENSP00000341882:L811V	L	+	1	0	CNTN6	1400006	0.942000	0.31987	0.987000	0.45799	0.474000	0.32979	3.947000	0.56652	1.388000	0.46506	-0.197000	0.12766	CTC		0.433	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		66	98	0	0	0	1	0	66	98				
ADAMTS3	9508	broad.mit.edu	37	4	73181646	73181646	+	Missense_Mutation	SNP	G	G	T	rs374977549		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:73181646G>T	ENST00000286657.4	-	11	1564	c.1528C>A	c.(1528-1530)Cct>Act	p.P510T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	510	Disintegrin.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGATTATCAGGATGGCTACAC	0.398																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1528-1530)Cct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 3							101.0	95.0	97.0					4																	73181646		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73181646G>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1528C>A	4.37:g.73181646G>T	ENSP00000286657:p.Pro510Thr						p.P510T	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1564	-			510			Disintegrin.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1528C>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989530	0.93106	.	.	ENSG00000156140	ENST00000286657	T	0.65178	-0.14	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	L	0.42632	1.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67837	-0.5567	10	0.25751	T	0.34	.	19.6668	0.95895	0.0:0.0:1.0:0.0	.	510	O15072	ATS3_HUMAN	T	510	ENSP00000286657:P510T	ENSP00000286657:P510T	P	-	1	0	ADAMTS3	73400510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.835000	0.99442	2.650000	0.89964	0.655000	0.94253	CCT		0.398	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			12	35	1	0	7.03913e-09	1	8.53437e-09	12	35				
ZBTB8A	653121	broad.mit.edu	37	1	33059310	33059310	+	Missense_Mutation	SNP	T	T	A	rs148974909		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:33059310T>A	ENST00000373510.4	+	3	1007	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.Y260N|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TCCTGTTGGCTATCAGTACGG	0.438																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(778-780)Tat>Aat		zinc finger and BTB domain containing 8A							106.0	100.0	102.0					1																	33059310		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33059310T>A	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.778T>A	1.37:g.33059310T>A	ENSP00000362609:p.Tyr260Asn					ZBTB8A_ENST00000316459.4_Missense_Mutation_p.Y260N|RP1-27O5.3_ENST00000480336.1_3'UTR	p.Y260N	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	1007	+			260					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.778T>A	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.408188	0.25378	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.14391	2.58;2.51	5.29	4.14	0.48551	.	1.082970	0.07145	U	0.847984	T	0.12902	0.0313	L	0.47716	1.5	0.26238	N	0.978911	B;B	0.31519	0.089;0.327	B;B	0.19946	0.027;0.025	T	0.12915	-1.0529	10	0.27785	T	0.31	-11.5283	9.7276	0.40342	0.0:0.0833:0.0:0.9167	.	260;260	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	N	260	ENSP00000362609:Y260N;ENSP00000317561:Y260N	ENSP00000317561:Y260N	Y	+	1	0	ZBTB8A	32831897	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	3.598000	0.54038	2.132000	0.65825	0.528000	0.53228	TAT		0.438	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		12	31	0	0	0	1	0	12	31				
RUFY2	55680	broad.mit.edu	37	10	70164458	70164458	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:70164458T>A	ENST00000602465.1	-	2	248	c.148A>T	c.(148-150)Atg>Ttg	p.M50L	RUFY2_ENST00000342616.4_Missense_Mutation_p.M50L|RUFY2_ENST00000388768.2_Missense_Mutation_p.M85L|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.M50L			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	99						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CAATGTTCCATAACAACAAAG	0.388																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(253-255)Atg>Ttg		RUN and FYVE domain containing 2							108.0	102.0	104.0					10																	70164458		1860	4088	5948	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70164458T>A	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.148A>T	10.37:g.70164458T>A	ENSP00000473462:p.Met50Leu					RUFY2_ENST00000602465.1_Missense_Mutation_p.M50L|RUFY2_ENST00000342616.4_Missense_Mutation_p.M50L|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.M50L	p.M85L	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			2	579	-			99					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.253A>T		.	.	.	.	.	.	.	.	.	.	T	15.53	2.861476	0.51482	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000342616	T;T;T	0.04234	3.67;3.67;3.67	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.05456	0.0144	N	0.10664	0.02	0.80722	D	1	B;P;P;P	0.38863	0.003;0.619;0.65;0.619	B;P;P;P	0.54100	0.035;0.742;0.658;0.742	T	0.38067	-0.9678	10	0.02654	T	1	.	13.7077	0.62651	0.0:0.0:0.0:1.0	.	50;50;50;85	Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	L	85;50;50	ENSP00000373420:M85L;ENSP00000382151:M50L;ENSP00000341727:M50L	ENSP00000341727:M50L	M	-	1	0	RUFY2	69834464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.892000	0.69790	1.825000	0.53177	0.459000	0.35465	ATG		0.388	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		14	47	0	0	0	1	0	14	47				
TTC21A	199223	broad.mit.edu	37	3	39156169	39156169	+	Missense_Mutation	SNP	G	G	T	rs377424404		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:39156169G>T	ENST00000431162.2	+	6	786	c.652G>T	c.(652-654)Gtc>Ttc	p.V218F	TTC21A_ENST00000301819.6_Missense_Mutation_p.V218F|TTC21A_ENST00000440121.1_Missense_Mutation_p.V177F			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	218										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCAGCCCTCGTCCTGAAGAT	0.547																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(652-654)Gtc>Ttc		tetratricopeptide repeat domain 21A							99.0	98.0	98.0					3																	39156169		2025	4179	6204	SO:0001583	missense	199223						binding	g.chr3:39156169G>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.652G>T	3.37:g.39156169G>T	ENSP00000398211:p.Val218Phe					TTC21A_ENST00000440121.1_Missense_Mutation_p.V177F|TTC21A_ENST00000431162.2_Missense_Mutation_p.V218F	p.V218F	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	6	829	+			218					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.652G>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947489	0.34377	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.35048	1.33;1.33;1.33	5.0	-4.94	0.03057	Tetratricopeptide-like helical (1);	1.054840	0.07445	N	0.898121	T	0.43875	0.1267	M	0.69358	2.11	0.21915	N	0.999476	D;D;D;D;D	0.58970	0.973;0.984;0.984;0.973;0.984	P;P;P;P;P	0.53518	0.545;0.645;0.728;0.539;0.645	T	0.47787	-0.9090	10	0.10111	T	0.7	-9.5273	14.4396	0.67306	0.614:0.0:0.386:0.0	.	177;218;218;218;218	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	F	218;218;218;177	ENSP00000301819:V218F;ENSP00000398211:V218F;ENSP00000410882:V177F	ENSP00000301819:V218F	V	+	1	0	TTC21A	39131173	0.002000	0.14202	0.002000	0.10522	0.185000	0.23345	0.060000	0.14342	-1.065000	0.03168	-1.036000	0.02392	GTC		0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		7	101	1	0	0.00198382	1	0.00210285	7	101				
RPL39L	116832	broad.mit.edu	37	3	186839064	186839064	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:186839064T>A	ENST00000296277.4	-	3	427	c.25A>T	c.(25-27)Att>Ttt	p.I9F	RPL39L_ENST00000455270.1_Missense_Mutation_p.I9F|RPL39L_ENST00000433055.1_Missense_Mutation_p.I9F	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	9					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)	structural constituent of ribosome (GO:0003735)					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		AATCGCTTAATGGTGAAAGTC	0.453																																						ENST00000296277.4																			0											c.(25-27)Att>Ttt		ribosomal protein L39-like							67.0	66.0	67.0					3																	186839064		2203	4299	6502	SO:0001583	missense	116832				spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome	g.chr3:186839064T>A	BC012328	CCDS3286.1	3q27.3	2008-02-01	2002-01-15	2002-01-18	ENSG00000163923	ENSG00000163923		"""L ribosomal proteins"""	17094	protein-coding gene	gene with protein product		607547	"""ribosomal protein L39-like 1"""	RPL39L1			Standard	NM_052969		Approved		uc003fre.1	Q96EH5	OTTHUMG00000156465	ENST00000296277.4:c.25A>T	3.37:g.186839064T>A	ENSP00000296277:p.Ile9Phe					RPL39L_ENST00000455270.1_Missense_Mutation_p.I9F|RPL39L_ENST00000433055.1_Missense_Mutation_p.I9F	p.I9F	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)	3	427	-	all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		9					Q8IUD0	Missense_Mutation	SNP	ENST00000296277.4	37	c.25A>T	CCDS3286.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091459	0.36952	.	.	ENSG00000163923	ENST00000455270;ENST00000296277;ENST00000433055	.	.	.	2.13	2.13	0.27403	Ribosomal protein L39e domain (2);	0.000000	0.52532	U	0.000069	T	0.49218	0.1544	.	.	.	0.80722	D	1	B	0.30326	0.276	B	0.35413	0.202	T	0.53486	-0.8432	8	0.66056	D	0.02	-1.8733	8.1506	0.31139	0.0:0.0:0.0:1.0	.	9	Q96EH5	RL39L_HUMAN	F	9	.	ENSP00000296277:I9F	I	-	1	0	RPL39L	188321758	1.000000	0.71417	0.497000	0.27552	0.600000	0.36913	2.913000	0.48790	1.216000	0.43427	0.482000	0.46254	ATT		0.453	RPL39L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344283.2	NM_052969		31	146	0	0	0	1	0	31	146				
COL4A4	1286	broad.mit.edu	37	2	227983388	227983388	+	Silent	SNP	T	T	C	rs369520774		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:227983388T>C	ENST00000396625.3	-	7	669	c.462A>G	c.(460-462)agA>agG	p.R154R	COL4A4_ENST00000329662.7_Silent_p.R154R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	154	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAAGAGCTCCTCTTCCTCCTG	0.552																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(460-462)agA>agG		collagen, type IV, alpha 4							84.0	84.0	84.0					2																	227983388		1864	4086	5950	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227983388T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.462A>G	2.37:g.227983388T>C						COL4A4_ENST00000329662.7_Silent_p.R154R	p.R154R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	7	669	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	154			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.462A>G	CCDS42828.1																																																																																				0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		19	69	0	0	0	1	0	19	69				
THSD7A	221981	broad.mit.edu	37	7	11676123	11676123	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:11676123C>G	ENST00000423059.4	-	2	907	c.656G>C	c.(655-657)cGt>cCt	p.R219P	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	219	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACCACATGACGCGTCCGGTG	0.617										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(655-657)cGt>cCt		thrombospondin, type I, domain containing 7A							28.0	29.0	29.0					7																	11676123		2016	4187	6203	SO:0001583	missense	221981					integral to membrane		g.chr7:11676123C>G		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.656G>C	7.37:g.11676123C>G	ENSP00000406482:p.Arg219Pro	HNSCC(18;0.044)					p.R219P	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	907	-			219			TSP type-1 2.			Missense_Mutation	SNP	ENST00000423059.4	37	c.656G>C	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946478	0.73672	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.65549	-0.16	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93377	0.6740	10	0.72032	D	0.01	.	20.0333	0.97547	0.0:1.0:0.0:0.0	.	219	Q9UPZ6	THS7A_HUMAN	P	219	ENSP00000406482:R219P	ENSP00000262042:R219P	R	-	2	0	THSD7A	11642648	1.000000	0.71417	0.086000	0.20670	0.358000	0.29455	7.776000	0.85560	2.810000	0.96702	0.585000	0.79938	CGT		0.617	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		9	34	0	0	0	1	0	9	34				
OR5W2	390148	broad.mit.edu	37	11	55681847	55681847	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55681847A>C	ENST00000344514.1	-	1	211	c.212T>G	c.(211-213)cTc>cGc	p.L71R		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAATAGCAGAGATCACAGAA	0.408																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(211-213)cTc>cGc		olfactory receptor, family 5, subfamily W, member 2							125.0	120.0	121.0					11																	55681847		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681847A>C	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.212T>G	11.37:g.55681847A>C	ENSP00000342448:p.Leu71Arg						p.L71R	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	211	-			71						Missense_Mutation	SNP	ENST00000344514.1	37	c.212T>G	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631603	0.67015	.	.	ENSG00000187612	ENST00000344514	T	0.02369	4.32	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.218537	0.23148	N	0.051384	T	0.17023	0.0409	M	0.90922	3.16	0.37842	D	0.929088	P	0.52577	0.954	P	0.59761	0.863	T	0.03641	-1.1017	10	0.87932	D	0	.	12.6788	0.56910	1.0:0.0:0.0:0.0	.	71	Q8NH69	OR5W2_HUMAN	R	71	ENSP00000342448:L71R	ENSP00000342448:L71R	L	-	2	0	OR5W2	55438423	0.101000	0.21875	0.991000	0.47740	0.541000	0.35023	3.941000	0.56607	1.874000	0.54306	0.448000	0.29417	CTC		0.408	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		22	38	0	0	0	1	0	22	38				
PREP	5550	broad.mit.edu	37	6	105845800	105845800	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:105845800T>C	ENST00000369110.3	-	2	240	c.48A>G	c.(46-48)gtA>gtG	p.V16V		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	16				V -> I (in Ref. 2; BAA04661). {ECO:0000305}.	proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GATAATCCTGTACCTGTAAAA	0.348																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(46-48)gtA>gtG		prolyl endopeptidase	Oxytocin(DB00107)						94.0	92.0	93.0					6																	105845800		2203	4300	6503	SO:0001819	synonymous_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105845800T>C		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.48A>G	6.37:g.105845800T>C							p.V16V	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			2	240	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	16	V -> I (in Ref. 2; BAA04661).				Q8N6D4	Silent	SNP	ENST00000369110.3	37	c.48A>G	CCDS5053.1																																																																																				0.348	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			5	47	0	0	0	1	0	5	47				
USH2A	7399	broad.mit.edu	37	1	215822045	215822045	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:215822045T>C	ENST00000307340.3	-	66	14793	c.14407A>G	c.(14407-14409)Att>Gtt	p.I4803V	USH2A_ENST00000366943.2_Missense_Mutation_p.I4803V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4803	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTACTCCAATAGAGTAGTTA	0.542										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14407-14409)Att>Gtt		Usher syndrome 2A (autosomal recessive, mild)							85.0	75.0	78.0					1																	215822045		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215822045T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14407A>G	1.37:g.215822045T>C	ENSP00000305941:p.Ile4803Val	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.I4803V	p.I4803V			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14793	-			4803			Fibronectin type-III 33.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14407A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	9.448	1.089777	0.20390	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53206	0.63;0.63	5.63	0.826	0.18829	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000473	T	0.31167	0.0788	L	0.31371	0.925	0.32467	N	0.543372	B	0.06786	0.001	B	0.06405	0.002	T	0.25847	-1.0120	10	0.29301	T	0.29	.	9.7889	0.40692	0.0:0.4288:0.0:0.5712	.	4803	O75445	USH2A_HUMAN	V	4803	ENSP00000305941:I4803V;ENSP00000355910:I4803V	ENSP00000305941:I4803V	I	-	1	0	USH2A	213888668	0.997000	0.39634	0.583000	0.28640	0.950000	0.60333	1.211000	0.32382	0.100000	0.17581	0.533000	0.62120	ATT		0.542	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	48	0	0	0	1	0	8	48				
VEGFC	7424	broad.mit.edu	37	4	177632758	177632758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:177632758G>T	ENST00000280193.2	-	4	1014	c.599C>A	c.(598-600)aCa>aAa	p.T200K	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	200					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AAAACTGATTGTTACTGGTTT	0.388																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(598-600)aCa>aAa		vascular endothelial growth factor C							170.0	161.0	164.0					4																	177632758		1889	4124	6013	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177632758G>T	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.599C>A	4.37:g.177632758G>T	ENSP00000280193:p.Thr200Lys					VEGFC_ENST00000507638.1_5'UTR	p.T200K	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	4	1014	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	200					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.599C>A	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047089	0.75846	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.98	5.98	0.97165	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72487	-0.4278	9	0.14252	T	0.57	-17.2118	20.4366	0.99092	0.0:0.0:1.0:0.0	.	200	P49767	VEGFC_HUMAN	K	200	.	ENSP00000280193:T200K	T	-	2	0	VEGFC	177869752	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.466000	0.97665	2.843000	0.97960	0.585000	0.79938	ACA		0.388	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		26	83	1	0	1.17739e-12	1	1.54351e-12	26	83				
ITGA8	8516	broad.mit.edu	37	10	15655689	15655689	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:15655689T>A	ENST00000378076.3	-	15	1876	c.1523A>T	c.(1522-1524)cAg>cTg	p.Q508L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	508					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTCTGGAACCTGGCAAGTTTT	0.458																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1522-1524)cAg>cTg		integrin, alpha 8							139.0	145.0	143.0					10																	15655689		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655689T>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1523A>T	10.37:g.15655689T>A	ENSP00000367316:p.Gln508Leu						p.Q508L	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			15	1876	-			508					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1523A>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	8.969	0.972569	0.18736	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.47528	0.84	5.38	3.02	0.34903	Integrin alpha-2 (1);	0.244211	0.45126	N	0.000382	T	0.38799	0.1054	L	0.60455	1.87	0.45108	D	0.998125	B;B	0.06786	0.001;0.001	B;B	0.11329	0.004;0.006	T	0.13791	-1.0496	10	0.27785	T	0.31	.	6.2097	0.20621	0.1415:0.0756:0.0:0.7828	.	493;508	F5H818;P53708	.;ITA8_HUMAN	L	508;493	ENSP00000367316:Q508L	ENSP00000367316:Q508L	Q	-	2	0	ITGA8	15695695	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	1.869000	0.39519	0.345000	0.23873	0.383000	0.25322	CAG		0.458	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		41	173	0	0	0	1	0	41	173				
LRP6	4040	broad.mit.edu	37	12	12337019	12337019	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:12337019C>A	ENST00000261349.4	-	5	947	c.871G>T	c.(871-873)Ggg>Tgg	p.G291W	LRP6_ENST00000543091.1_Missense_Mutation_p.G291W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	291	EGF-like 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAACAACCCCCATTGTCAATT	0.393																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(871-873)Ggg>Tgg		low density lipoprotein receptor-related protein 6							101.0	90.0	93.0					12																	12337019		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12337019C>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.871G>T	12.37:g.12337019C>A	ENSP00000261349:p.Gly291Trp					LRP6_ENST00000543091.1_Missense_Mutation_p.G291W	p.G291W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			5	947	-		Prostate(47;0.0865)	291			EGF-like 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.871G>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802727	0.90623	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.98493	-4.96;-4.96	5.85	5.85	0.93711	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000007	D	0.99545	0.9837	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97730	1.0202	10	0.87932	D	0	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	291;291	F5H7J9;O75581	.;LRP6_HUMAN	W	291	ENSP00000261349:G291W;ENSP00000442472:G291W	ENSP00000261349:G291W	G	-	1	0	LRP6	12228286	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.625000	0.83145	2.773000	0.95371	0.655000	0.94253	GGG		0.393	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			18	42	1	0	2.4624e-09	1	3.025e-09	18	42				
ADAM28	10863	broad.mit.edu	37	8	24199226	24199226	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:24199226G>C	ENST00000265769.4	+	16	1896	c.1786G>C	c.(1786-1788)Gaa>Caa	p.E596Q	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E343Q|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	596	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CACAAGTCAAGAAATAGGCAT	0.408																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1786-1788)Gaa>Caa		ADAM metallopeptidase domain 28							191.0	182.0	185.0					8																	24199226		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199226G>C	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1786G>C	8.37:g.24199226G>C	ENSP00000265769:p.Glu596Gln					RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E343Q|RP11-624C23.1_ENST00000519689.1_RNA	p.E596Q	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1896	+		Prostate(55;0.0959)	596			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1786G>C	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.986|6.986	0.552053|0.552053	0.13374|0.13374	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649|ENST00000521629;ENST00000518326	T;T|.	0.01705|.	4.8;4.68|.	5.84|5.84	4.05|4.05	0.47172|0.47172	ADAM, cysteine-rich (1);|.	.|.	.|.	.|.	.|.	T|T	0.39462|0.39462	0.1079|0.1079	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	0.999999|0.999999	P;P|.	0.43231|.	0.801;0.801|.	P;P|.	0.46629|.	0.522;0.522|.	T|T	0.23762|0.23762	-1.0179|-1.0179	9|5	0.87932|.	D|.	0|.	.|.	8.0443|8.0443	0.30540|0.30540	0.1776:0.0:0.8224:0.0|0.1776:0.0:0.8224:0.0	.|.	596;596|.	B2RMV5;Q9UKQ2|.	.;ADA28_HUMAN|.	Q|T	596;343|228;21	ENSP00000265769:E596Q;ENSP00000380770:E343Q|.	ENSP00000265769:E596Q|.	E|R	+|+	1|2	0|0	ADAM28|ADAM28	24255171|24255171	1.000000|1.000000	0.71417|0.71417	0.090000|0.090000	0.20809|0.20809	0.009000|0.009000	0.06853|0.06853	2.224000|2.224000	0.42945|0.42945	1.493000|1.493000	0.48517|0.48517	-0.140000|-0.140000	0.14226|0.14226	GAA|AGA		0.408	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		27	102	0	0	0	1	0	27	102				
CSMD3	114788	broad.mit.edu	37	8	113349855	113349855	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:113349855C>T	ENST00000297405.5	-	43	7002	c.6758G>A	c.(6757-6759)gGa>gAa	p.G2253E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2183E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2213E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2149E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2253	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATGTGTATCCTGGGAAACA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6757-6759)gGa>gAa		CUB and Sushi multiple domains 3							107.0	108.0	108.0					8																	113349855		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113349855C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6758G>A	8.37:g.113349855C>T	ENSP00000297405:p.Gly2253Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.G2213E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2183E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2149E	p.G2253E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			43	7002	-			2253			Sushi 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6758G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076720	0.94000	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.94192	0.8136	H	0.99764	4.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.96290	0.9213	10	0.66056	D	0.02	.	19.4929	0.95059	0.0:1.0:0.0:0.0	.	2149;2253;2213	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	2213;2253;1523;2149;2183	ENSP00000345799:G2213E;ENSP00000297405:G2253E;ENSP00000341558:G1523E;ENSP00000412263:G2149E;ENSP00000343124:G2183E	ENSP00000297405:G2253E	G	-	2	0	CSMD3	113419031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.835000	0.97688	0.650000	0.86243	GGA		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	81	0	0	0	1	0	16	81				
DMRTC2	63946	broad.mit.edu	37	19	42353199	42353199	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:42353199C>A	ENST00000269945.3	+	6	681	c.630C>A	c.(628-630)ggC>ggA	p.G210G	DMRTC2_ENST00000596827.1_Splice_Site_p.G210G	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	210	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TCTTATTAGGCTTTGACCCTG	0.532																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.e6-1		DMRT-like family C2							136.0	138.0	138.0					19																	42353199		2203	4300	6503	SO:0001630	splice_region_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42353199C>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.629-1C>A	19.37:g.42353199C>A						DMRTC2_ENST00000596827.1_Splice_Site_p.G210_splice	p.G210_splice	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			6	681	+			210			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Splice_Site	SNP	ENST00000269945.3	37	c.628_splice	CCDS33034.1																																																																																				0.532	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283	Silent	36	113	1	0	7.53189e-24	1	1.06248e-23	36	113				
PKHD1L1	93035	broad.mit.edu	37	8	110477163	110477163	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:110477163G>A	ENST00000378402.5	+	49	8206	c.8102G>A	c.(8101-8103)gGa>gAa	p.G2701E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2701					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAACCAATGGAGCGGTGATT	0.453										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8101-8103)gGa>gAa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							143.0	143.0	143.0					8																	110477163		1876	4108	5984	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477163G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8102G>A	8.37:g.110477163G>A	ENSP00000367655:p.Gly2701Glu	HNSCC(38;0.096)					p.G2701E	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8206	+			2701					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8102G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124358	0.77436	.	.	ENSG00000205038	ENST00000378402	D	0.86956	-2.19	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	M	0.75447	2.3	0.50467	D	0.999874	P	0.50443	0.935	P	0.48400	0.576	D	0.90285	0.4318	10	0.52906	T	0.07	.	17.4929	0.87709	0.0:0.0:1.0:0.0	.	2701	Q86WI1	PKHL1_HUMAN	E	2701	ENSP00000367655:G2701E	ENSP00000367655:G2701E	G	+	2	0	PKHD1L1	110546339	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	8.222000	0.89777	2.724000	0.93272	0.655000	0.94253	GGA		0.453	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		52	96	0	0	0	1	0	52	96				
EBF1	1879	broad.mit.edu	37	5	158139994	158139994	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:158139994T>C	ENST00000313708.6	-	13	1635	c.1353A>G	c.(1351-1353)tcA>tcG	p.S451S	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.S420S|EBF1_ENST00000517373.1_Silent_p.S443S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	451					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGCTTGTGATGCCTCGG	0.502			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1351-1353)tcA>tcG		early B-cell factor 1							93.0	84.0	87.0					5																	158139994		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158139994T>C	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1353A>G	5.37:g.158139994T>C						EBF1_ENST00000380654.4_Silent_p.S420S|EBF1_ENST00000517373.1_Silent_p.S443S|EBF1_ENST00000518836.1_5'UTR	p.S451S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1635	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	451					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.1353A>G	CCDS4343.1																																																																																				0.502	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		20	70	0	0	0	1	0	20	70				
PSG11	5680	broad.mit.edu	37	19	43523066	43523066	+	Missense_Mutation	SNP	T	T	C	rs374837741		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:43523066T>C	ENST00000401740.1	-	3	668	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	PSG11_ENST00000403486.1_Missense_Mutation_p.M67V|PSG11_ENST00000320078.7_Missense_Mutation_p.M189V|PSG11_ENST00000306322.7_Missense_Mutation_p.M67V|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	189	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTATGAGTCATAGGGAGGCTC	0.483																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(565-567)Atg>Gtg		pregnancy specific beta-1-glycoprotein 11		T	VAL/MET,VAL/MET,VAL/MET	1,4399	2.1+/-5.4	0,1,2199	273.0	279.0	277.0		199,565,199	-0.4	0.0	19		277	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	21,21,21	0,2,6495	CC,CT,TT		0.0116,0.0227,0.0154	,,	67/214,189/336,67/214	43523066	2,12992	2200	4297	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523066T>C	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.565A>G	19.37:g.43523066T>C	ENSP00000384995:p.Met189Val					PSG11_ENST00000320078.7_Missense_Mutation_p.M189V|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.M67V|PSG11_ENST00000403486.1_Missense_Mutation_p.M67V	p.M189V			Q9UQ72	PSG11_HUMAN			3	668	-		Prostate(69;0.00682)	189			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.565A>G	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	t	0	-2.740571	0.00088	2.27E-4	1.16E-4	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.00682	5.86;5.86;5.86;5.86	1.13	-0.447	0.12234	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00300	0.0009	N	0.01197	-0.965	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.15052	0.012;0.004	T	0.42582	-0.9443	9	0.02654	T	1	.	3.5077	0.07696	0.0:0.671:0.0:0.329	.	67;189	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	V	189;67;67;189	ENSP00000319140:M189V;ENSP00000385427:M67V;ENSP00000304913:M67V;ENSP00000384995:M189V	ENSP00000304913:M67V	M	-	1	0	PSG11	48214906	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.833000	0.04396	-0.337000	0.08426	0.155000	0.16302	ATG		0.483	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		140	370	0	0	0	1	0	140	370				
OR51G2	81282	broad.mit.edu	37	11	4936857	4936857	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:4936857C>T	ENST00000322013.3	-	1	65	c.37G>A	c.(37-39)Gtt>Att	p.V13I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGCAGAAACGCTGCTGCTG	0.557																																						ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(37-39)Gtt>Att		olfactory receptor, family 51, subfamily G, member 2							49.0	48.0	49.0					11																	4936857		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936857C>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.37G>A	11.37:g.4936857C>T	ENSP00000322593:p.Val13Ile					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.V13I	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	65	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	13					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.37G>A	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	3.071	-0.191036	0.06299	.	.	ENSG00000176893	ENST00000322013	T	0.19669	2.13	0.427	-0.793	0.10922	.	1.731510	0.03496	N	0.217327	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	P	0.39404	0.672	B	0.29524	0.103	T	0.12477	-1.0546	9	0.19590	T	0.45	.	.	.	.	.	13	Q8NGK0	O51G2_HUMAN	I	13	ENSP00000322593:V13I	ENSP00000322593:V13I	V	-	1	0	OR51G2	4893433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.946000	0.00680	-0.477000	0.06832	-0.470000	0.05040	GTT		0.557	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		49	44	0	0	0	1	0	49	44				
TRPA1	8989	broad.mit.edu	37	8	72975701	72975701	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:72975701A>T	ENST00000262209.4	-	5	865	c.658T>A	c.(658-660)Ttt>Att	p.F220I		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	220					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AACTCACCAAACCTTAGTATT	0.323																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(658-660)Ttt>Att		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						75.0	72.0	73.0					8																	72975701		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72975701A>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.658T>A	8.37:g.72975701A>T	ENSP00000262209:p.Phe220Ile						p.F220I	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		5	865	-			220					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.658T>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	8.817	0.936709	0.18206	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64085	-0.08;2.43	5.62	4.46	0.54185	Ankyrin repeat-containing domain (3);	0.793646	0.12332	N	0.478280	T	0.45597	0.1350	L	0.38175	1.15	0.25165	N	0.990329	B	0.32302	0.363	B	0.26969	0.075	T	0.28933	-1.0028	10	0.22109	T	0.4	.	5.4833	0.16735	0.6749:0.0:0.0797:0.2454	.	220	O75762	TRPA1_HUMAN	I	72;220	ENSP00000428151:F72I;ENSP00000262209:F220I	ENSP00000262209:F220I	F	-	1	0	TRPA1	73138255	1.000000	0.71417	0.386000	0.26170	0.569000	0.35902	2.767000	0.47637	1.071000	0.40834	0.528000	0.53228	TTT		0.323	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		6	41	0	0	0	1	0	6	41				
TRIM51HP	440041	broad.mit.edu	37	11	55063090	55063090	+	RNA	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55063090T>A	ENST00000526016.1	-	0	547					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CAAATGTTGTTGTTTTTCTTC	0.403																																						ENST00000526016.1																			0																																																			440041							g.chr11:55063090T>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55063090T>A								NR_038174.2						0	547	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.403	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			8	44	0	0	0	1	0	8	44				
PASK	23178	broad.mit.edu	37	2	242072400	242072400	+	Missense_Mutation	SNP	C	C	A	rs368743806		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:242072400C>A	ENST00000405260.1	-	9	2050	c.1352G>T	c.(1351-1353)cGa>cTa	p.R451L	PASK_ENST00000539818.1_Missense_Mutation_p.R235L|PASK_ENST00000358649.4_Missense_Mutation_p.R451L|PASK_ENST00000234040.4_Missense_Mutation_p.R451L|PASK_ENST00000544142.1_Missense_Mutation_p.R265L|PASK_ENST00000403638.3_Missense_Mutation_p.R451L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	451					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R451L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GATCTCATCTCGGGGCACAAC	0.537																																						ENST00000403638.3																			1	Substitution - Missense(1)	p.R451L(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1351-1353)cGa>cTa		PAS domain containing serine/threonine kinase							131.0	113.0	119.0					2																	242072400		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242072400C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1352G>T	2.37:g.242072400C>A	ENSP00000384016:p.Arg451Leu					PASK_ENST00000358649.4_Missense_Mutation_p.R451L|PASK_ENST00000539818.1_Missense_Mutation_p.R235L|PASK_ENST00000234040.4_Missense_Mutation_p.R451L|PASK_ENST00000405260.1_Missense_Mutation_p.R451L|PASK_ENST00000544142.1_Missense_Mutation_p.R265L	p.R451L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	9	1443	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	451					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1352G>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	4.188	0.033533	0.08101	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.67865	-0.28;-0.29;-0.28;-0.23;-0.29;0.72	2.83	-5.66	0.02451	.	1.629350	0.03768	N	0.259315	T	0.48259	0.1490	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.26195	0.028;0.144;0.044;0.144;0.028	B;B;B;B;B	0.29077	0.018;0.027;0.027;0.098;0.018	T	0.49551	-0.8928	10	0.49607	T	0.09	.	7.2355	0.26067	0.0:0.4244:0.3247:0.2508	.	416;265;451;451;451	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	L	451;265;451;451;235;451	ENSP00000234040:R451L;ENSP00000441374:R265L;ENSP00000384016:R451L;ENSP00000351475:R451L;ENSP00000443083:R235L;ENSP00000384438:R451L	ENSP00000234040:R451L	R	-	2	0	PASK	241721073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.192000	0.00564	-3.629000	0.00129	-1.884000	0.00543	CGA		0.537	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		22	71	1	0	5.26018e-13	1	6.92031e-13	22	71				
GUCY1A2	2977	broad.mit.edu	37	11	106680815	106680815	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:106680815G>T	ENST00000526355.2	-	5	2064	c.1596C>A	c.(1594-1596)gcC>gcA	p.A532A	GUCY1A2_ENST00000347596.2_Silent_p.A553A|GUCY1A2_ENST00000282249.2_Silent_p.A532A	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	532	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GGGCACATATGGCTGTGAAGC	0.443																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1594-1596)gcC>gcA		guanylate cyclase 1, soluble, alpha 2							110.0	103.0	105.0					11																	106680815		2201	4298	6499	SO:0001819	synonymous_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106680815G>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1596C>A	11.37:g.106680815G>T						GUCY1A2_ENST00000347596.2_Silent_p.A553A|GUCY1A2_ENST00000282249.2_Silent_p.A532A	p.A532A	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	2064	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	532			Guanylate cyclase.		A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	c.1596C>A	CCDS8335.1																																																																																				0.443	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			8	49	1	0	5.18039e-06	1	5.82402e-06	8	49				
OR4Q3	441669	broad.mit.edu	37	14	20216002	20216002	+	Missense_Mutation	SNP	C	C	A	rs534518521	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:20216002C>A	ENST00000331723.1	+	1	416	c.416C>A	c.(415-417)cCc>cAc	p.P139H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCATGAACCCCCAGCTATGC	0.502																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(415-417)cCc>cAc		olfactory receptor, family 4, subfamily Q, member 3							109.0	113.0	112.0					14																	20216002		2200	4300	6500	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216002C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.416C>A	14.37:g.20216002C>A	ENSP00000330049:p.Pro139His						p.P139H	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	416	+	all_cancers(95;0.00108)		139					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.416C>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	0.695	-0.792906	0.02862	.	.	ENSG00000182652	ENST00000331723	T	0.00527	6.79	4.36	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	1.224670	0.06201	N	0.683327	T	0.00468	0.0015	L	0.43757	1.38	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40942	-0.9536	10	0.51188	T	0.08	.	5.5683	0.17182	0.265:0.2739:0.4611:0.0	.	139	Q8NH05	OR4Q3_HUMAN	H	139	ENSP00000330049:P139H	ENSP00000330049:P139H	P	+	2	0	OR4Q3	19285842	0.000000	0.05858	0.779000	0.31741	0.062000	0.15995	-1.630000	0.02028	0.105000	0.17753	-0.709000	0.03644	CCC		0.502	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			10	61	1	0	5.50884e-06	1	6.15596e-06	10	61				
BAIAP2L1	55971	broad.mit.edu	37	7	97941556	97941556	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:97941556G>T	ENST00000005260.8	-	8	875	c.660C>A	c.(658-660)tcC>tcA	p.S220S	BAIAP2L1_ENST00000462558.1_5'UTR|RP4-607J23.2_ENST00000608882.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	220	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGCAGCTTGGAATTCAGTA	0.448																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(658-660)tcC>tcA		BAI1-associated protein 2-like 1							135.0	142.0	139.0					7																	97941556		2203	4300	6503	SO:0001819	synonymous_variant	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97941556G>T	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.660C>A	7.37:g.97941556G>T						BAIAP2L1_ENST00000462558.1_5'UTR	p.S220S	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	875	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		220			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	c.660C>A	CCDS34687.1																																																																																				0.448	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		41	155	1	0	9.84934e-19	1	1.34838e-18	41	155				
OR8J1	219477	broad.mit.edu	37	11	56127818	56127818	+	Silent	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56127818G>C	ENST00000303039.3	+	1	128	c.96G>C	c.(94-96)ctG>ctC	p.L32L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGTCTTTCTGGTGCTCTATG	0.502																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(94-96)ctG>ctC		olfactory receptor, family 8, subfamily J, member 1							125.0	121.0	122.0					11																	56127818		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127818G>C	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.96G>C	11.37:g.56127818G>C							p.L32L	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	128	+	Esophageal squamous(21;0.00448)		32					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.96G>C	CCDS31529.1																																																																																				0.502	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		11	82	0	0	0	1	0	11	82				
ZNF404	342908	broad.mit.edu	37	19	44377279	44377279	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:44377279C>T	ENST00000587539.1	-	3	1086	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	ZNF404_ENST00000324394.6_Missense_Mutation_p.A361T	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CTACAAAAGGCCTTTCCACAA	0.393																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1087-1089)Gcc>Acc		zinc finger protein 404							40.0	45.0	43.0					19																	44377279		2154	4274	6428	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377279C>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1087G>A	19.37:g.44377279C>T	ENSP00000466051:p.Ala363Thr					ZNF404_ENST00000324394.6_Missense_Mutation_p.A361T	p.A363T	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	1086	-		Prostate(69;0.0352)	363					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.1087G>A	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	6.992	0.553148	0.13374	.	.	ENSG00000176222	ENST00000324394	T	0.16897	2.31	2.27	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12817	0.0311	N	0.04768	-0.165	0.20403	N	0.999901	P	0.50710	0.938	P	0.56865	0.808	T	0.17715	-1.0360	9	0.35671	T	0.21	.	4.0719	0.09885	0.234:0.6179:0.0:0.1481	.	363	Q494X3	ZN404_HUMAN	T	361	ENSP00000319479:A361T	ENSP00000319479:A361T	A	-	1	0	ZNF404	49069119	0.000000	0.05858	0.982000	0.44146	0.611000	0.37282	-1.117000	0.03283	1.255000	0.44051	0.404000	0.27445	GCC		0.393	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		6	36	0	0	0	1	0	6	36				
MIA3	375056	broad.mit.edu	37	1	222832074	222832074	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:222832074C>A	ENST00000344922.5	+	19	4643	c.4618C>A	c.(4618-4620)Caa>Aaa	p.Q1540K	MIA3_ENST00000340535.7_Missense_Mutation_p.Q418K|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1540K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1540					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAACTGAGTCAAGAAGAGTA	0.408																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4618-4620)Caa>Aaa		melanoma inhibitory activity family, member 3							179.0	180.0	179.0					1																	222832074		1901	4120	6021	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222832074C>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4618C>A	1.37:g.222832074C>A	ENSP00000340900:p.Gln1540Lys					MIA3_ENST00000340535.7_Missense_Mutation_p.Q418K|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1540K|MIA3_ENST00000344507.1_Intron	p.Q1540K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	19	4643	+			1540					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4618C>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190935	0.58017	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.44482	1.59;1.59;0.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.36248	0.0960	L	0.35723	1.085	0.50467	D	0.999873	B;B	0.25390	0.122;0.125	B;B	0.30572	0.117;0.091	T	0.19451	-1.0305	9	0.05833	T	0.94	.	20.0291	0.97531	0.0:1.0:0.0:0.0	.	418;1540	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	K	1540;1540;1481;418;418	ENSP00000340900:Q1540K;ENSP00000340587:Q1540K;ENSP00000345866:Q418K	ENSP00000284471:Q418K	Q	+	1	0	MIA3	220898697	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.595000	0.54016	2.729000	0.93468	0.655000	0.94253	CAA		0.408	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		34	185	1	0	4.0492e-12	1	5.25263e-12	34	185				
OR5M11	219487	broad.mit.edu	37	11	56310049	56310049	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56310049A>C	ENST00000528616.2	-	1	708	c.685T>G	c.(685-687)Tca>Gca	p.S229A		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CCCTCTGCTGATTTGATCCGG	0.502																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(685-687)Tca>Gca		olfactory receptor, family 5, subfamily M, member 11							89.0	90.0	90.0					11																	56310049		2025	4202	6227	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310049A>C	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.685T>G	11.37:g.56310049A>C	ENSP00000432417:p.Ser229Ala						p.S229A	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	708	-			229					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.685T>G	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513255	0.44660	.	.	ENSG00000255223	ENST00000528616	T	0.00325	8.1	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	M	0.85041	2.73	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.45614	-0.9249	9	0.87932	D	0	.	9.5625	0.39378	0.8427:0.0:0.0:0.1573	.	229	Q96RB7	OR5MB_HUMAN	A	229	ENSP00000432417:S229A	ENSP00000432417:S229A	S	-	1	0	OR5M11	56066625	0.463000	0.25799	0.984000	0.44739	0.743000	0.42351	1.142000	0.31540	2.076000	0.62316	0.514000	0.50259	TCA		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		10	41	0	0	0	1	0	10	41				
NCKAP1L	3071	broad.mit.edu	37	12	54925051	54925051	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:54925051G>A	ENST00000293373.6	+	23	2593	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	NCKAP1L_ENST00000545638.2_Silent_p.R788R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAGAGATGCGGGCCTTGGCAG	0.473																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2512-2514)cgG>cgA		NCK-associated protein 1-like							114.0	121.0	118.0					12																	54925051		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925051G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2514G>A	12.37:g.54925051G>A						NCKAP1L_ENST00000545638.2_Silent_p.R788R	p.R838R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			23	2593	+			838					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.2514G>A	CCDS31813.1																																																																																				0.473	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		32	95	0	0	0	1	0	32	95				
PRAMEF6	440561	broad.mit.edu	37	1	13001279	13001279	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:13001279A>T	ENST00000376189.1	-	3	503	c.404T>A	c.(403-405)gTg>gAg	p.V135E	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.V135E|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	135					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTCCTGCACTGGTGTTTT	0.507																																						ENST00000376189.1																			0				NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9						c.(403-405)gTg>gAg		PRAME family member 6							374.0	639.0	544.0					1																	13001279		1509	2708	4217	SO:0001583	missense	440561							g.chr1:13001279A>T		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.404T>A	1.37:g.13001279A>T	ENSP00000365360:p.Val135Glu					PRAMEF6_ENST00000415464.2_Missense_Mutation_p.V135E|PRAMEF6_ENST00000376192.5_Intron	p.V135E	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	503	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	135					A0AUJ9	Missense_Mutation	SNP	ENST00000376189.1	37	c.404T>A	CCDS30594.1	.	.	.	.	.	.	.	.	.	.	.	4.409	0.075567	0.08485	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04360	3.64;3.64;3.64	0.96	-1.92	0.07618	.	6.779220	0.00531	N	0.000215	T	0.09642	0.0237	M	0.79614	2.46	0.09310	N	1	P	0.40731	0.728	P	0.44359	0.447	T	0.26292	-1.0107	10	0.26408	T	0.33	.	2.2539	0.04050	0.4444:0.3098:0.2457:0.0	.	135	Q5VXH4	PRAM6_HUMAN	E	135	ENSP00000365360:V135E;ENSP00000401281:V135E;ENSP00000347211:V135E	ENSP00000347211:V135E	V	-	2	0	PRAMEF6	12923866	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.531000	0.02219	-0.958000	0.03622	0.145000	0.16022	GTG		0.507	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001010889		45	386	0	0	0	1	0	45	386				
CSNK1A1L	122011	broad.mit.edu	37	13	37679084	37679084	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr13:37679084A>G	ENST00000379800.3	-	1	719	c.310T>C	c.(310-312)Tgt>Cgt	p.C104R		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTTCTTGAACAGAAATTAAAG	0.443																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(310-312)Tgt>Cgt		casein kinase 1, alpha 1-like							116.0	112.0	113.0					13																	37679084		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679084A>G	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.310T>C	13.37:g.37679084A>G	ENSP00000369126:p.Cys104Arg						p.C104R	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	719	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	104			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.310T>C	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491967	0.44352	.	.	ENSG00000180138	ENST00000379800	T	0.64991	-0.13	1.01	1.01	0.19927	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80256	-0.1458	10	0.87932	D	0	.	6.1608	0.20364	1.0:0.0:0.0:0.0	.	104	Q8N752	KC1AL_HUMAN	R	104	ENSP00000369126:C104R	ENSP00000369126:C104R	C	-	1	0	CSNK1A1L	36577084	1.000000	0.71417	0.342000	0.25602	0.884000	0.51177	6.335000	0.72949	0.688000	0.31529	0.459000	0.35465	TGT		0.443	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		21	31	0	0	0	1	0	21	31				
EXD2	55218	broad.mit.edu	37	14	69704350	69704350	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:69704350A>T	ENST00000409018.3	+	8	1479	c.1351A>T	c.(1351-1353)Aac>Tac	p.N451Y	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000312994.5_Missense_Mutation_p.N451Y|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409242.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409949.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409675.1_Missense_Mutation_p.N326Y|EXD2_ENST00000449989.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409014.1_Missense_Mutation_p.N326Y	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	451							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GAAGGACCACAACTCCCACGA	0.547																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(976-978)Aac>Tac		exonuclease 3'-5' domain containing 2							77.0	66.0	70.0					14																	69704350		2203	4300	6503	SO:0001583	missense	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69704350A>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1351A>T	14.37:g.69704350A>T	ENSP00000387331:p.Asn451Tyr					EXD2_ENST00000409949.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409675.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409242.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409018.3_Missense_Mutation_p.N451Y|EXD2_ENST00000312994.5_Missense_Mutation_p.N451Y|EXD2_ENST00000449989.1_Missense_Mutation_p.N326Y|EXD2_ENST00000492815.1_3'UTR	p.N326Y	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN			10	1633	+			326					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.976A>T	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325916	0.60743	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.64803	0.27;-0.12;-0.12;-0.12;-0.12;0.27;-0.12	5.24	5.24	0.73138	.	0.180937	0.64402	D	0.000017	T	0.71592	0.3358	M	0.66939	2.045	0.80722	D	1	D;P;P	0.53619	0.961;0.847;0.847	P;B;B	0.56960	0.81;0.321;0.321	T	0.68432	-0.5410	10	0.20519	T	0.43	-23.7397	15.3161	0.74078	1.0:0.0:0.0:0.0	.	451;326;326	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	Y	451;326;326;326;326;451;326	ENSP00000387331:N451Y;ENSP00000386915:N326Y;ENSP00000386762:N326Y;ENSP00000386632:N326Y;ENSP00000386839:N326Y;ENSP00000313140:N451Y;ENSP00000392177:N326Y	ENSP00000313140:N451Y	N	+	1	0	EXD2	68774103	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.863000	0.75489	2.197000	0.70478	0.455000	0.32223	AAC		0.547	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			16	37	0	0	0	1	0	16	37				
CRAMP1L	57585	broad.mit.edu	37	16	1706279	1706279	+	Silent	SNP	C	C	T	rs201633864		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:1706279C>T	ENST00000397412.3	+	10	1620	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	CRAMP1L_ENST00000436138.3_Silent_p.D504D|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000293925.5_Silent_p.D507D|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	507						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCAGCCCGGACGCTCCTGACA	0.701																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(1519-1521)gaC>gaT		Crm, cramped-like (Drosophila)		T		1,3719		0,1,1859	14.0	16.0	15.0		1521	-7.7	0.0	16		15	6,8078		0,6,4036	no	coding-synonymous	CRAMP1L	NM_020825.3		0,7,5895	TT,TC,CC		0.0742,0.0269,0.0593		507/1270	1706279	7,11797	1860	4042	5902	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1706279C>T	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1521C>T	16.37:g.1706279C>T						CRAMP1L_ENST00000436138.3_Silent_p.D504D|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000293925.5_Silent_p.D507D	p.D507D			Q96RY5	CRML_HUMAN			10	1620	+			507					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.1521C>T	CCDS10440.2																																																																																				0.701	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			7	19	0	0	0	1	0	7	19				
CTNNA2	1496	broad.mit.edu	37	2	80835392	80835392	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:80835392C>A	ENST00000402739.4	+	16	2384	c.2379C>A	c.(2377-2379)agC>agA	p.S793R	CTNNA2_ENST00000361291.4_Missense_Mutation_p.S827R|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Intron|AC008067.2_ENST00000599412.2_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S793R|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S472R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S793R|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S793R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	793					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATATCTGCAGCAAGGTGAAGG	0.443																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2377-2379)agC>agA		catenin (cadherin-associated protein), alpha 2							124.0	116.0	119.0					2																	80835392		1937	4161	6098	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80835392C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2379C>A	2.37:g.80835392C>A	ENSP00000384638:p.Ser793Arg					CTNNA2_ENST00000541047.1_Missense_Mutation_p.S793R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S793R|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S827R|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S472R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S793R	p.S793R			P26232	CTNA2_HUMAN			21	3103	+			793					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2379C>A		.	.	.	.	.	.	.	.	.	.	C	17.61	3.433186	0.62844	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000343114	T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.89095	3.005	0.80722	D	1	D;D;D	0.67145	0.995;0.996;0.986	D;D;D	0.69654	0.962;0.965;0.94	T	0.79921	-0.1599	9	.	.	.	.	11.5113	0.50494	0.0:0.8628:0.0:0.1372	.	425;793;793	F6KRI5;P26232;P26232-2	.;CTNA2_HUMAN;.	R	793;793;827;793;793;472	ENSP00000418191:S793R;ENSP00000419295:S793R;ENSP00000355398:S827R;ENSP00000384638:S793R;ENSP00000444675:S793R;ENSP00000341500:S472R	.	S	+	3	2	CTNNA2	80688903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.378000	0.34328	2.809000	0.96659	0.655000	0.94253	AGC		0.443	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		9	52	1	0	1.12685e-05	1	1.25168e-05	9	52				
ZNF667	63934	broad.mit.edu	37	19	56973797	56973797	+	5'UTR	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:56973797G>T	ENST00000504904.3	-	0	662				ZNF667_ENST00000591790.1_5'UTR|ZNF667_ENST00000292069.6_5'UTR|ZNF667_ENST00000342634.3_Splice_Site_p.A74A			Q5HYK9	ZN667_HUMAN	zinc finger protein 667						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGTAAGGCAGGGCTGTGGGGA	0.557																																						ENST00000342634.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.e3-1		zinc finger protein 667							103.0	94.0	97.0					19																	56973797		692	1591	2283	SO:0001623	5_prime_UTR_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56973797G>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.-58C>A	19.37:g.56973797G>T						ZNF667_ENST00000504904.3_5'UTR|ZNF667_ENST00000292069.6_5'UTR|ZNF667_ENST00000591790.1_5'UTR	p.A74_splice			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	3	221	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	0			KRAB.		B2RMS6|B9EK36|Q6B093|Q9H807	Splice_Site	SNP	ENST00000504904.3	37	c.220_splice	CCDS12944.1																																																																																				0.557	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		16	62	1	0	9.16793e-09	1	1.10792e-08	16	62				
CACNA1E	777	broad.mit.edu	37	1	181479697	181479697	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:181479697G>A	ENST00000367573.2	+	2	351	c.351G>A	c.(349-351)aaG>aaA	p.K117K	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Silent_p.K68K|CACNA1E_ENST00000367570.1_Silent_p.K117K|CACNA1E_ENST00000357570.5_Silent_p.K68K|CACNA1E_ENST00000526775.1_Silent_p.K117K|CACNA1E_ENST00000360108.3_Silent_p.K117K	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	117					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGATGACAAGACCCCCATGT	0.522																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(349-351)aaG>aaA		calcium channel, voltage-dependent, R type, alpha 1E subunit							127.0	127.0	127.0					1																	181479697		2092	4206	6298	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181479697G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.351G>A	1.37:g.181479697G>A						CACNA1E_ENST00000360108.3_Silent_p.K117K|CACNA1E_ENST00000367573.2_Silent_p.K117K|CACNA1E_ENST00000357570.5_Silent_p.K68K|CACNA1E_ENST00000358338.5_Silent_p.K68K|CACNA1E_ENST00000367570.1_Silent_p.K117K|CACNA1E_ENST00000367567.4_5'UTR	p.K117K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			2	516	+			117					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.351G>A	CCDS55664.1																																																																																				0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	35	0	0	0	1	0	7	35				
MYF5	4617	broad.mit.edu	37	12	81112190	81112190	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:81112190C>A	ENST00000228644.3	+	2	707	c.555C>A	c.(553-555)atC>atA	p.I185I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	185					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						TTGACAGCATCTACTGTCCTG	0.388																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(553-555)atC>atA		myogenic factor 5							205.0	187.0	193.0					12																	81112190		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.chr12:81112190C>A		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.555C>A	12.37:g.81112190C>A							p.I185I	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			2	707	+			185					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.555C>A	CCDS9020.1																																																																																				0.388	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		25	104	1	0	1.66031e-10	1	2.08804e-10	25	104				
PRR27	401137	broad.mit.edu	37	4	71024146	71024146	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:71024146C>A	ENST00000344526.5	+	3	366	c.177C>A	c.(175-177)gtC>gtA	p.V59V	C4orf40_ENST00000502294.1_Silent_p.V59V|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		59	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGAATACAGTCCCCAGTTACC	0.453																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(175-177)gtC>gtA		chromosome 4 open reading frame 40							203.0	184.0	191.0					4																	71024146		2203	4300	6503	SO:0001819	synonymous_variant	401137					extracellular region		g.chr4:71024146C>A																												ENST00000344526.5:c.177C>A	4.37:g.71024146C>A						C4orf40_ENST00000502294.1_Silent_p.V59V|C4orf40_ENST00000502441.2_Intron	p.V59V	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	366	+			59					A8MXP0|Q6MZR6	Silent	SNP	ENST00000344526.5	37	c.177C>A	CCDS3535.1																																																																																				0.453	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			44	90	1	0	2.47872e-24	1	3.5234e-24	44	90				
BAHCC1	57597	broad.mit.edu	37	17	79418800	79418800	+	Silent	SNP	G	G	A	rs574429088		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:79418800G>A	ENST00000307745.7	+	16	4083	c.4083G>A	c.(4081-4083)gcG>gcA	p.A1361A	MIR3186_ENST00000577404.1_RNA																							CTGCCCCAGCGCAGCCGCCCA	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		14266	0.001		0.0	False		,,,				2504	0.0					ENST00000307745.7																			0											c.(4081-4083)gcG>gcA									18.0	22.0	20.0					17																	79418800		2062	4178	6240	SO:0001819	synonymous_variant	57597							g.chr17:79418800G>A																												ENST00000307745.7:c.4083G>A	17.37:g.79418800G>A							p.A1361A							16	4083	+									Silent	SNP	ENST00000307745.7	37	c.4083G>A																																																																																					0.687	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	21	0	0	0	1	0	3	21				
ZNF565	147929	broad.mit.edu	37	19	36673780	36673780	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:36673780T>A	ENST00000355114.5	-	5	1934	c.1208A>T	c.(1207-1209)tAt>tTt	p.Y403F	ZNF565_ENST00000304116.5_Missense_Mutation_p.Y363F|ZNF565_ENST00000392173.2_Missense_Mutation_p.Y363F			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTTACACTCATAGGGTTTCTC	0.483																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1207-1209)tAt>tTt		zinc finger protein 565							114.0	98.0	103.0					19																	36673780		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673780T>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1208A>T	19.37:g.36673780T>A	ENSP00000347234:p.Tyr403Phe					ZNF565_ENST00000392173.2_Missense_Mutation_p.Y363F|ZNF565_ENST00000304116.5_Missense_Mutation_p.Y363F	p.Y403F			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1934	-	Esophageal squamous(110;0.162)		363					B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.1208A>T		.	.	.	.	.	.	.	.	.	.	t	11.76	1.733474	0.30684	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.18338	2.22;2.22;2.22	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36268	N	0.002681	T	0.14270	0.0345	N	0.16656	0.425	0.09310	N	0.999995	D	0.53312	0.959	P	0.49752	0.621	T	0.07290	-1.0780	10	0.52906	T	0.07	.	7.9164	0.29820	0.1833:0.0:0.0:0.8167	.	363	Q8N9K5	ZN565_HUMAN	F	363;363;403	ENSP00000376013:Y363F;ENSP00000306869:Y363F;ENSP00000347234:Y403F	ENSP00000306869:Y363F	Y	-	2	0	ZNF565	41365620	0.006000	0.16342	0.983000	0.44433	0.162000	0.22319	0.410000	0.21098	2.102000	0.63906	0.529000	0.55759	TAT		0.483	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		16	64	0	0	0	1	0	16	64				
ATAD5	79915	broad.mit.edu	37	17	29185322	29185322	+	Silent	SNP	C	C	T	rs140973444		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:29185322C>T	ENST00000321990.4	+	9	3315	c.2937C>T	c.(2935-2937)tcC>tcT	p.S979S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	979					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TACTTTCTTCCGAGTGTCATA	0.264																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(2935-2937)tcC>tcT		ATPase family, AAA domain containing 5		C		0,4406		0,0,2203	36.0	37.0	37.0		2937	-0.5	0.5	17	dbSNP_134	37	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ATAD5	NM_024857.3		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		979/1845	29185322	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29185322C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2937C>T	17.37:g.29185322C>T						CTD-2349P21.11_ENST00000580873.1_RNA	p.S979S	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			9	3315	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	979					Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	c.2937C>T	CCDS11260.1																																																																																				0.264	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		3	24	0	0	0	1	0	3	24				
GSTA2	2939	broad.mit.edu	37	6	52619848	52619848	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:52619848C>A	ENST00000493422.1	-	4	320	c.165G>T	c.(163-165)gtG>gtT	p.V55V		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	55	GST N-terminal.|Glutathione binding.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	CAACCATTGGCACTTGCTGGA	0.403																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(163-165)gtG>gtT		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						116.0	115.0	115.0					6																	52619848		2203	4300	6503	SO:0001819	synonymous_variant	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52619848C>A	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.165G>T	6.37:g.52619848C>A							p.V55V	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			4	320	-	Lung NSC(77;0.118)		55			GST N-terminal.|Glutathione binding.		Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	c.165G>T	CCDS4944.1																																																																																				0.403	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		15	83	1	0	7.93312e-07	1	9.19746e-07	15	83				
LAG3	3902	broad.mit.edu	37	12	6883837	6883837	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:6883837C>T	ENST00000203629.2	+	4	921	c.588C>T	c.(586-588)cgC>cgT	p.R196R	LAG3_ENST00000441671.2_Silent_p.R196R	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	196	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCCTGACCGCCCAGCCTCTG	0.617																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(586-588)cgC>cgT		lymphocyte-activation gene 3							49.0	51.0	50.0					12																	6883837		2203	4300	6503	SO:0001819	synonymous_variant	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6883837C>T		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.588C>T	12.37:g.6883837C>T						LAG3_ENST00000441671.2_Silent_p.R196R	p.R196R	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			4	921	+			196			Ig-like C2-type 1.		A8K7T9|Q7Z643	Silent	SNP	ENST00000203629.2	37	c.588C>T	CCDS8561.1																																																																																				0.617	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			5	85	0	0	0	1	0	5	85				
SNHG14	104472715	broad.mit.edu	37	15	25483216	25483216	+	RNA	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:25483216A>T	ENST00000453082.2	+	0	1979				SNORD115-38_ENST00000365037.1_RNA|SNORD115-37_ENST00000363768.1_RNA|SNORD115-36_ENST00000365629.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGAAGCCCAAGCTAGGTGAG	0.458																																						ENST00000453082.2																			0																				93.0	95.0	94.0					15																	25483216		876	1991	2867			104472715							g.chr15:25483216A>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25483216A>T								NR_003343.1						0	1979	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.458	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			15	79	0	0	0	1	0	15	79				
MGAM	8972	broad.mit.edu	37	7	141765207	141765207	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:141765207G>C	ENST00000549489.2	+	38	4652	c.4557G>C	c.(4555-4557)tgG>tgC	p.W1519C	MGAM_ENST00000475668.2_Missense_Mutation_p.W1519C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1519	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGCCGCTGGGCAGGACATT	0.612																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4555-4557)tgG>tgC		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						42.0	48.0	46.0					7																	141765207		2017	4177	6194	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765207G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4557G>C	7.37:g.141765207G>C	ENSP00000447378:p.Trp1519Cys					MGAM_ENST00000549489.2_Missense_Mutation_p.W1519C	p.W1519C			O43451	MGA_HUMAN			38	4611	+	Melanoma(164;0.0272)		1519			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4557G>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934977	0.73442	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92805	-3.11	3.97	3.97	0.46021	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.96639	0.8903	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97577	1.0108	9	0.72032	D	0.01	.	14.8747	0.70485	0.0:0.0:1.0:0.0	.	1519	O43451	MGA_HUMAN	C	1519;1519;1396	ENSP00000447378:W1519C	ENSP00000316431:W1396C	W	+	3	0	MGAM	141411676	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.736000	0.84948	1.759000	0.51996	0.306000	0.20318	TGG		0.612	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	18	0	0	0	1	0	4	18				
LPHN3	23284	broad.mit.edu	37	4	62935916	62935916	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:62935916G>T	ENST00000514591.1	+	25	4029	c.3700G>T	c.(3700-3702)Ggc>Tgc	p.G1234C	LPHN3_ENST00000545650.1_Missense_Mutation_p.G1234C|LPHN3_ENST00000507164.1_3'UTR|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR|RP11-84A1.3_ENST00000509461.1_RNA|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1336C|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1293C|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1268C|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1345C|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1277C|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000512091.2_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1212					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CATTGCCAGCGGCGAATACCT	0.453																																						ENST00000514591.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(3700-3702)Ggc>Tgc		latrophilin 3							57.0	58.0	57.0					4																	62935916		2084	4263	6347	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62935916G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3700G>T	4.37:g.62935916G>T	ENSP00000422533:p.Gly1234Cys					LPHN3_ENST00000545650.1_Missense_Mutation_p.G1234C|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1345C|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1268C|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1336C|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1277C|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1293C	p.G1234C			Q9HAR2	LPHN3_HUMAN			25	4029	+			1212					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3700G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.57|14.57	2.574729|2.574729	0.45902|0.45902	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T|.	0.72835|.	-0.66;-0.66;-0.68;-0.68;-0.69;-0.69;-0.67|.	5.12|5.12	4.28|4.28	0.50868|0.50868	GPCR, family 2, latrophilin, C-terminal (1);|.	0.181349|.	0.47093|.	D|.	0.000249|.	T|T	0.63177|0.63177	0.2489|0.2489	L|L	0.61218|0.61218	1.895|1.895	0.43622|0.43622	D|D	0.996003|0.996003	D;D|.	0.71674|.	0.996;0.998|.	D;D|.	0.66847|.	0.947;0.947|.	T|T	0.61282|0.61282	-0.7094|-0.7094	10|5	0.46703|.	T|.	0.11|.	.|.	10.7487|10.7487	0.46196|0.46196	0.1534:0.0:0.8466:0.0|0.1534:0.0:0.8466:0.0	.|.	1234;1212|.	E9PE04;Q9HAR2|.	.;LPHN3_HUMAN|.	C|L	1234;1234;1212;1293;1277;1345;1336;1268|682	ENSP00000422533:G1234C;ENSP00000439831:G1234C;ENSP00000421372:G1293C;ENSP00000421627:G1277C;ENSP00000420931:G1345C;ENSP00000425884:G1336C;ENSP00000424258:G1268C|.	ENSP00000295349:G1212C|.	G|R	+|+	1|2	0|0	LPHN3|LPHN3	62618511|62618511	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.986000|0.986000	0.74619|0.74619	3.338000|3.338000	0.52128|0.52128	1.158000|1.158000	0.42547|0.42547	0.460000|0.460000	0.39030|0.39030	GGC|CGG		0.453	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			13	27	1	0	9.05144e-12	1	1.166e-11	13	27				
AATF	26574	broad.mit.edu	37	17	35346000	35346000	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:35346000C>T	ENST00000225402.5	+	6	1381	c.1130C>T	c.(1129-1131)gCt>gTt	p.A377V		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	377	RB1 and SP1 binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ACCAAACTGGCTTCTGGAAAA	0.463																																					NSCLC(49;901 1159 19183 41572 46244)	ENST00000225402.5																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18						c.(1129-1131)gCt>gTt		apoptosis antagonizing transcription factor							110.0	100.0	103.0					17																	35346000		2203	4300	6503	SO:0001583	missense	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35346000C>T	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1130C>T	17.37:g.35346000C>T	ENSP00000225402:p.Ala377Val						p.A377V	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN			6	1381	+		Breast(25;0.00607)	377			RB1 and SP1 binding.		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	c.1130C>T	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591997	0.66219	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.49	5.49	0.81192	.	0.166295	0.52532	D	0.000065	T	0.58750	0.2144	L	0.57536	1.79	0.41715	D	0.989474	B	0.29988	0.264	B	0.30716	0.119	T	0.55842	-0.8077	9	0.12103	T	0.63	-12.2895	17.5561	0.87890	0.0:1.0:0.0:0.0	.	377	Q9NY61	AATF_HUMAN	V	377	.	ENSP00000225402:A377V	A	+	2	0	AATF	32420113	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.302000	0.59092	2.588000	0.87417	0.491000	0.48974	GCT		0.463	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		6	39	0	0	0	1	0	6	39				
CR1L	1379	broad.mit.edu	37	1	207890873	207890873	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:207890873T>C	ENST00000508064.2	+	11	1539	c.1479T>C	c.(1477-1479)gaT>gaC	p.D493D		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	493	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCTTGGAGATATTCCCTATG	0.453																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1477-1479)gaT>gaC		complement component (3b/4b) receptor 1-like							118.0	109.0	112.0					1																	207890873		1864	4096	5960	SO:0001819	synonymous_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207890873T>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1479T>C	1.37:g.207890873T>C							p.D493D	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			11	1539	+			493			Sushi 8.		Q32MC9|Q8NEU7	Silent	SNP	ENST00000508064.2	37	c.1479T>C	CCDS44310.1																																																																																				0.453	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		16	98	0	0	0	1	0	16	98				
MYO10	4651	broad.mit.edu	37	5	16682009	16682009	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:16682009C>T	ENST00000513610.1	-	31	4614	c.4160G>A	c.(4159-4161)aGa>aAa	p.R1387K	MYO10_ENST00000427430.2_Missense_Mutation_p.R744K|MYO10_ENST00000274203.9_Missense_Mutation_p.R744K|MYO10_ENST00000515803.1_Missense_Mutation_p.R726K|MYO10_ENST00000505695.1_Missense_Mutation_p.R726K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1387					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCCCTCCACTCTGGTGTCCCC	0.577																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(4159-4161)aGa>aAa		myosin X							78.0	84.0	82.0					5																	16682009		2109	4222	6331	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16682009C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4160G>A	5.37:g.16682009C>T	ENSP00000421280:p.Arg1387Lys					MYO10_ENST00000515803.1_Missense_Mutation_p.R726K|MYO10_ENST00000427430.2_Missense_Mutation_p.R744K|MYO10_ENST00000505695.1_Missense_Mutation_p.R726K|MYO10_ENST00000274203.9_Missense_Mutation_p.R744K	p.R1387K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			31	4614	-			1387					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.4160G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246676	0.39697	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.86694	-2.07;-2.16;-2.08;-2.16;-2.08	5.82	5.82	0.92795	.	.	.	.	.	T	0.75376	0.3841	N	0.04043	-0.29	0.23180	N	0.99816	B;B;B	0.30236	0.006;0.274;0.151	B;B;B	0.24848	0.002;0.056;0.045	T	0.58685	-0.7593	9	0.18276	T	0.48	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	266;1027;1387	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	K	1387;726;744;726;744	ENSP00000421280:R1387K;ENSP00000425051:R726K;ENSP00000274203:R744K;ENSP00000421170:R726K;ENSP00000391106:R744K	ENSP00000274203:R744K	R	-	2	0	MYO10	16735009	0.662000	0.27439	0.042000	0.18584	0.830000	0.47004	6.076000	0.71267	2.756000	0.94617	0.655000	0.94253	AGA		0.577	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		16	82	0	0	0	1	0	16	82				
LEPR	3953	broad.mit.edu	37	1	66102523	66102523	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:66102523G>T	ENST00000349533.6	+	20	3508	c.3323G>T	c.(3322-3324)tGt>tTt	p.C1108F	LEPR_ENST00000406510.3_Missense_Mutation_p.C175F	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCAGCCCCCTGTTTATTCACG	0.413																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(3322-3324)tGt>tTt		leptin receptor							69.0	66.0	67.0					1																	66102523		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102523G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3323G>T	1.37:g.66102523G>T	ENSP00000330393:p.Cys1108Phe					LEPR_ENST00000406510.3_Missense_Mutation_p.C175F	p.C1108F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3508	+			1108					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3323G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	2.427	-0.331681	0.05314	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.54675	0.56	5.37	4.46	0.54185	.	0.935623	0.09199	N	0.834923	T	0.23532	0.0569	L	0.57536	1.79	0.09310	N	1	P	0.34837	0.472	B	0.30495	0.116	T	0.32348	-0.9910	10	0.36615	T	0.2	-9.8509	2.3547	0.04293	0.1698:0.1513:0.5225:0.1564	.	1108	P48357	LEPR_HUMAN	F	1108;175	ENSP00000330393:C1108F	ENSP00000330393:C1108F	C	+	2	0	LEPR	65875111	0.039000	0.19947	0.074000	0.20217	0.002000	0.02628	0.489000	0.22387	1.258000	0.44101	0.585000	0.79938	TGT		0.413	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		12	33	1	0	5.50884e-06	1	6.15596e-06	12	33				
VPS4A	27183	broad.mit.edu	37	16	69349973	69349973	+	Silent	SNP	G	G	T	rs576996707		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:69349973G>T	ENST00000254950.11	+	2	240	c.84G>T	c.(82-84)gcG>gcT	p.A28A	RP11-343C2.11_ENST00000570054.2_Silent_p.A52A	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ACGAGGAGGCGCTGCGGCTGT	0.577																																						ENST00000254950.11																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7						c.(82-84)gcG>gcT		vacuolar protein sorting 4 homolog A (S. cerevisiae)							73.0	80.0	78.0					16																	69349973		2114	4239	6353	SO:0001819	synonymous_variant	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69349973G>T	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.84G>T	16.37:g.69349973G>T						VPS4A_ENST00000569775.1_3'UTR|RP11-343C2.3_ENST00000570054.2_Silent_p.A52A	p.A28A	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN			2	240	+		Ovarian(137;0.101)	28			Interaction with CHMP1B.|MIT.			Silent	SNP	ENST00000254950.11	37	c.84G>T	CCDS45517.1																																																																																				0.577	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		30	73	1	0	5.91797e-21	1	8.28515e-21	30	73				
COL1A2	1278	broad.mit.edu	37	7	94037685	94037685	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:94037685G>A	ENST00000297268.6	+	15	1202	c.731G>A	c.(730-732)gGt>gAt	p.G244D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	244					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCCCGTGGGTCCTGCTGTA	0.438										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(730-732)gGt>gAt		collagen, type I, alpha 2	Collagenase(DB00048)						119.0	116.0	117.0					7																	94037685		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94037685G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.731G>A	7.37:g.94037685G>A	ENSP00000297268:p.Gly244Asp	HNSCC(75;0.22)					p.G244D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		15	1202	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		244					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.731G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443598	0.83993	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97362	0.9970	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	244	P08123	CO1A2_HUMAN	D	244;245	ENSP00000297268:G244D	ENSP00000297268:G244D	G	+	2	0	COL1A2	93875621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGT		0.438	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		26	77	0	0	0	1	0	26	77				
EVA1A	84141	broad.mit.edu	37	2	75720460	75720460	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:75720460C>A	ENST00000233712.1	-	4	798	c.361G>T	c.(361-363)Gcc>Tcc	p.A121S	EVA1A_ENST00000410071.1_Missense_Mutation_p.A121S|EVA1A_ENST00000393913.3_Missense_Mutation_p.A121S|EVA1A_ENST00000410010.1_Missense_Mutation_p.A109S|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.A121S	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	121					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											AGCCGCTGGGCGCGCTCCAGC	0.617																																						ENST00000233712.1																			0											c.(361-363)Gcc>Tcc		eva-1 homolog A (C. elegans)							42.0	45.0	44.0					2																	75720460		2203	4300	6503	SO:0001583	missense	84141							g.chr2:75720460C>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.361G>T	2.37:g.75720460C>A	ENSP00000233712:p.Ala121Ser					EVA1A_ENST00000393913.3_Missense_Mutation_p.A121S|EVA1A_ENST00000410071.1_Missense_Mutation_p.A121S|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.A121S|EVA1A_ENST00000410010.1_Missense_Mutation_p.A109S	p.A121S	NM_032181.2	NP_115557.1					4	798	-								D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.361G>T	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286948	0.95517	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649	T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.80065	0.4555	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83751	0.0209	10	0.87932	D	0	1.5095	16.7196	0.85407	0.0:1.0:0.0:0.0	.	121	Q9H8M9	F176A_HUMAN	S	121;121;121;109;121;121	ENSP00000377490:A121S;ENSP00000233712:A121S;ENSP00000386435:A121S;ENSP00000386835:A109S;ENSP00000386930:A121S;ENSP00000398249:A121S	ENSP00000233712:A121S	A	-	1	0	FAM176A	75573968	1.000000	0.71417	0.849000	0.33467	0.997000	0.91878	7.729000	0.84864	2.722000	0.93159	0.655000	0.94253	GCC		0.617	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		11	51	1	0	0.000978159	1	0.00104281	11	51				
CFTR	1080	broad.mit.edu	37	7	117171079	117171079	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:117171079A>G	ENST00000003084.6	+	4	532	c.400A>G	c.(400-402)Agg>Ggg	p.R134G	CFTR_ENST00000454343.1_Missense_Mutation_p.R134G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	134	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CTTTATTGTGAGGACACTGCT	0.418									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(400-402)Agg>Ggg		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						110.0	92.0	98.0					7																	117171079		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117171079A>G	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.400A>G	7.37:g.117171079A>G	ENSP00000003084:p.Arg134Gly					CFTR_ENST00000454343.1_Missense_Mutation_p.R134G	p.R134G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		4	532	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		134			ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.400A>G	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534958	0.64972	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.92099	-2.55;-2.55;-2.97	5.73	4.5	0.54988	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93061	0.7791	L	0.41236	1.265	0.52501	D	0.999959	D	0.76494	0.999	D	0.81914	0.995	D	0.91892	0.5524	9	.	.	.	-19.7277	12.3485	0.55134	0.7544:0.2456:0.0:0.0	.	134	P13569	CFTR_HUMAN	G	134	ENSP00000003084:R134G;ENSP00000403677:R134G;ENSP00000389119:R134G	.	R	+	1	2	CFTR	116958315	1.000000	0.71417	0.950000	0.38849	0.588000	0.36517	4.226000	0.58606	2.313000	0.78055	0.454000	0.30748	AGG		0.418	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		9	36	0	0	0	1	0	9	36				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	284802							g.chr20:29625961C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	74	1	0	0.014758	1	0.0151668	5	74				
KIAA0895	23366	broad.mit.edu	37	7	36396959	36396959	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:36396959G>A	ENST00000297063.6	-	3	469	c.419C>T	c.(418-420)tCt>tTt	p.S140F	KIAA0895_ENST00000338533.5_Missense_Mutation_p.S127F|KIAA0895_ENST00000440378.1_Missense_Mutation_p.S89F|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000317020.6_Missense_Mutation_p.S89F|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.S127F	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	140										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGTGTTAGGAGATTTGCTGGG	0.468																																						ENST00000317020.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(265-267)tCt>tTt		KIAA0895							114.0	99.0	104.0					7																	36396959		1904	4118	6022	SO:0001583	missense	23366							g.chr7:36396959G>A	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.419C>T	7.37:g.36396959G>A	ENSP00000297063:p.Ser140Phe					KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000297063.6_Missense_Mutation_p.S140F|KIAA0895_ENST00000338533.5_Missense_Mutation_p.S127F|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000415803.2_Missense_Mutation_p.S127F|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.S89F	p.S89F	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN			2	566	-			140					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.266C>T	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	G	5.868	0.344271	0.11126	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000415803	.	.	.	5.78	3.91	0.45181	.	0.979086	0.08432	N	0.946754	T	0.38957	0.1060	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B;B	0.16396	0.002;0.001;0.001;0.013;0.017;0.007	B;B;B;B;B;B	0.12156	0.007;0.002;0.006;0.004;0.005;0.005	T	0.41980	-0.9478	9	0.66056	D	0.02	-0.5543	16.7099	0.85382	0.0:0.3857:0.6143:0.0	.	89;89;127;140;127;89	B4DGN6;B7ZLT4;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;K0895_HUMAN;.;.	F	140;127;89;89;127	.	ENSP00000297063:S140F	S	-	2	0	KIAA0895	36363484	0.001000	0.12720	0.981000	0.43875	0.064000	0.16182	0.698000	0.25571	0.731000	0.32448	0.563000	0.77884	TCT		0.468	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		15	37	0	0	0	1	0	15	37				
ZNF710	374655	broad.mit.edu	37	15	90617403	90617403	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:90617403A>G	ENST00000268154.4	+	4	1957	c.1706A>G	c.(1705-1707)cAc>cGc	p.H569R	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ATGCACCTGCACGCCGGCAGC	0.582																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1705-1707)cAc>cGc		zinc finger protein 710							65.0	59.0	61.0					15																	90617403		2200	4298	6498	SO:0001583	missense	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90617403A>G	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1706A>G	15.37:g.90617403A>G	ENSP00000268154:p.His569Arg						p.H569R	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		4	1957	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		569					A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	c.1706A>G	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542594	0.85917	.	.	ENSG00000140548	ENST00000268154	T	0.70631	-0.5	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.071043	0.52532	D	0.000064	D	0.89287	0.6672	H	0.97240	3.965	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.92665	0.6145	10	0.72032	D	0.01	-38.1092	14.0811	0.64922	1.0:0.0:0.0:0.0	.	569	Q8N1W2	ZN710_HUMAN	R	569	ENSP00000268154:H569R	ENSP00000268154:H569R	H	+	2	0	ZNF710	88418407	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.139000	0.94554	2.192000	0.70111	0.528000	0.53228	CAC		0.582	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		7	50	0	0	0	1	0	7	50				
ATP6V0A4	50617	broad.mit.edu	37	7	138391439	138391439	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:138391439T>C	ENST00000310018.2	-	22	2735	c.2453A>G	c.(2452-2454)tAt>tGt	p.Y818C	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.Y818C|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.Y818C	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	818					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|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)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCCCCGACATAGAACTTGTT	0.522																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2452-2454)tAt>tGt		ATPase, H+ transporting, lysosomal V0 subunit a4							86.0	72.0	77.0					7																	138391439		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138391439T>C	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2453A>G	7.37:g.138391439T>C	ENSP00000308122:p.Tyr818Cys					ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.Y818C|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.Y818C	p.Y818C	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			22	2735	-			818					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.2453A>G	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128503	0.77549	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.90563	-2.69;-2.69;-2.69	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000009	D	0.96769	0.8945	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98010	1.0365	10	0.87932	D	0	-21.9283	14.6261	0.68621	0.0:0.0:0.0:1.0	.	818	Q9HBG4	VPP4_HUMAN	C	818	ENSP00000308122:Y818C;ENSP00000376774:Y818C;ENSP00000253856:Y818C	ENSP00000308122:Y818C	Y	-	2	0	ATP6V0A4	138041979	1.000000	0.71417	0.904000	0.35570	0.846000	0.48090	7.868000	0.87116	2.038000	0.60285	0.533000	0.62120	TAT		0.522	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		7	60	0	0	0	1	0	7	60				
SCG3	29106	broad.mit.edu	37	15	51984467	51984467	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:51984467G>A	ENST00000220478.3	+	7	1205	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	RP11-313P18.2_ENST00000559918.1_lincRNA|SCG3_ENST00000542355.2_Missense_Mutation_p.E36K	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	268					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACCTACAGTGAAGACAACTT	0.383																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(802-804)Gaa>Aaa		secretogranin III							113.0	115.0	114.0					15																	51984467		2195	4293	6488	SO:0001583	missense	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51984467G>A	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.802G>A	15.37:g.51984467G>A	ENSP00000220478:p.Glu268Lys					SCG3_ENST00000542355.2_Missense_Mutation_p.E36K	p.E268K	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	7	1205	+			268					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	c.802G>A	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385903	0.82902	.	.	ENSG00000104112	ENST00000220478;ENST00000542355	T;T	0.29655	1.56;1.56	6.04	5.07	0.68467	.	0.091679	0.64402	D	0.000001	T	0.24547	0.0595	L	0.29908	0.895	0.58432	D	0.999991	P	0.42296	0.775	B	0.36666	0.23	T	0.05835	-1.0861	10	0.66056	D	0.02	-27.2678	16.8276	0.85935	0.0:0.1283:0.8717:0.0	.	268	Q8WXD2	SCG3_HUMAN	K	268;36	ENSP00000220478:E268K;ENSP00000445205:E36K	ENSP00000220478:E268K	E	+	1	0	SCG3	49771759	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.975000	0.76128	2.873000	0.98535	0.561000	0.74099	GAA		0.383	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		5	75	0	0	0	1	0	5	75				
BMP5	653	broad.mit.edu	37	6	55625272	55625272	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:55625272G>A	ENST00000370830.3	-	5	1785	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	BMP5_ENST00000446683.2_Missense_Mutation_p.R363W	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	363					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.R363W(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCAGATCCCGGAAGCTCACA	0.358																																						ENST00000370830.3																			1	Substitution - Missense(1)	p.R363W(1)	large_intestine(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1087-1089)Cgg>Tgg		bone morphogenetic protein 5							122.0	113.0	116.0					6																	55625272		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55625272G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1087C>T	6.37:g.55625272G>A	ENSP00000359866:p.Arg363Trp					BMP5_ENST00000446683.2_Missense_Mutation_p.R363W	p.R363W	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		5	1785	-	Lung NSC(77;0.0462)		363					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1087C>T	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657104	0.88154	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.89939	-2.59;-2.59	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.976;0.991	D	0.96183	0.9132	10	0.87932	D	0	.	19.9059	0.97007	0.0:0.0:1.0:0.0	.	363;363	B4E0Y4;P22003	.;BMP5_HUMAN	W	363	ENSP00000359866:R363W;ENSP00000391818:R363W	ENSP00000359866:R363W	R	-	1	2	BMP5	55733231	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.944000	0.87722	2.693000	0.91896	0.655000	0.94253	CGG		0.358	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			13	51	0	0	0	1	0	13	51				
ZIC1	7545	broad.mit.edu	37	3	147128418	147128418	+	Silent	SNP	G	G	A	rs527947592	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:147128418G>A	ENST00000282928.4	+	1	1248	c.519G>A	c.(517-519)ccG>ccA	p.P173P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	173					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGTACCCGCGACCGGAGC	0.682													G|||	4	0.000798722	0.0	0.0	5008	,	,		12695	0.0		0.0	False		,,,				2504	0.0041					ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(517-519)ccG>ccA		Zic family member 1							29.0	33.0	32.0					3																	147128418		2203	4297	6500	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128418G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.519G>A	3.37:g.147128418G>A							p.P173P	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1248	+			173					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.519G>A	CCDS3136.1																																																																																				0.682	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		6	65	0	0	0	1	0	6	65				
SLC34A2	10568	broad.mit.edu	37	4	25677927	25677927	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:25677927G>T	ENST00000382051.3	+	13	1679	c.1629G>T	c.(1627-1629)acG>acT	p.T543T	SLC34A2_ENST00000504570.1_Silent_p.T542T|SLC34A2_ENST00000503434.1_Silent_p.T542T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	543					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.T543T(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCCGCTGACGGTGTTTGGCC	0.602			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - coding silent(1)	p.T543T(1)	lung(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1627-1629)acG>acT		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							151.0	143.0	145.0					4																	25677927		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677927G>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1629G>T	4.37:g.25677927G>T						SLC34A2_ENST00000503434.1_Silent_p.T542T|SLC34A2_ENST00000504570.1_Silent_p.T542T	p.T543T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1679	+		Breast(46;0.0503)	543					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1629G>T	CCDS3435.1																																																																																				0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		30	106	1	0	6.29468e-14	1	8.34046e-14	30	106				
CC2D2B	387707	broad.mit.edu	37	10	97769595	97769595	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:97769595A>G	ENST00000344386.3	+	3	199	c.35A>G	c.(34-36)aAg>aGg	p.K12R	ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K12R|CC2D2B_ENST00000371198.2_Missense_Mutation_p.K103R|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	12										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CACTGTCTCAAGAGCTGTAGT	0.308																																						ENST00000371198.2																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(307-309)aAg>aGg		coiled-coil and C2 domain containing 2B							132.0	120.0	124.0					10																	97769595		1834	4071	5905	SO:0001583	missense	387707							g.chr10:97769595A>G	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.35A>G	10.37:g.97769595A>G	ENSP00000343747:p.Lys12Arg					ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000344386.3_Missense_Mutation_p.K12R|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K12R|ENTPD1-AS1_ENST00000451364.1_RNA	p.K103R			Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	12	1348	+		Colorectal(252;0.158)	12					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	c.308A>G	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	A	2.607	-0.291747	0.05568	.	.	ENSG00000188649	ENST00000371198;ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	D;T;D;T	0.91011	-2.77;-1.23;-1.63;-0.98	5.59	3.16	0.36331	.	.	.	.	.	T	0.79986	0.4541	N	0.19112	0.55	0.20403	N	0.999904	B;B	0.14438	0.01;0.004	B;B	0.17433	0.018;0.003	T	0.61247	-0.7101	9	0.07030	T	0.85	.	7.5356	0.27708	0.8116:0.0:0.1884:0.0	.	12;12	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	R	103;12;12;12;12	ENSP00000360241:K103R;ENSP00000391834:K12R;ENSP00000386988:K12R;ENSP00000343747:K12R	ENSP00000343747:K12R	K	+	2	0	CC2D2B	97759585	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.534000	0.36051	0.377000	0.24735	0.524000	0.50904	AAG		0.308	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		15	51	0	0	0	1	0	15	51				
AMT	275	broad.mit.edu	37	3	49455267	49455267	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:49455267C>G	ENST00000273588.3	-	8	1319	c.1017G>C	c.(1015-1017)atG>atC	p.M339I	AMT_ENST00000395338.2_Missense_Mutation_p.M339I|AMT_ENST00000458307.2_Missense_Mutation_p.M295I|AMT_ENST00000546031.1_Missense_Mutation_p.M242I|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Missense_Mutation_p.M283I	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	339					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	TGGTACCCTCCATGTTCAGGA	0.622																																						ENST00000273588.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(1015-1017)atG>atC		aminomethyltransferase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						80.0	78.0	79.0					3																	49455267		2203	4300	6503	SO:0001583	missense	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455267C>G	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.1017G>C	3.37:g.49455267C>G	ENSP00000273588:p.Met339Ile					AMT_ENST00000458307.2_Missense_Mutation_p.M295I|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Missense_Mutation_p.M283I|AMT_ENST00000395338.2_Missense_Mutation_p.M339I|AMT_ENST00000546031.1_Missense_Mutation_p.M242I	p.M339I	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1319	-			339					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	37	c.1017G>C	CCDS2797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.558|6.558	0.471196|0.471196	0.12461|0.12461	.|.	.|.	ENSG00000145020|ENSG00000145020	ENST00000427987|ENST00000395338;ENST00000458307;ENST00000273588;ENST00000538581;ENST00000546031	.|T;T;T;T;T	.|0.76316	.|-1.01;-1.01;-1.01;-1.01;-1.01	4.77|4.77	-7.55|-7.55	0.01327|0.01327	.|Glycine cleavage T-protein, C-terminal barrel (1);	.|0.879202	.|0.10198	.|N	.|0.703807	T|T	0.52256|0.52256	0.1723|0.1723	N|N	0.11201|0.11201	0.11|0.11	0.21105|0.21105	N|N	0.999788|0.999788	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.001;0.002;0.001;0.001	T|T	0.34976|0.34976	-0.9807|-0.9807	5|10	.|0.40728	.|T	.|0.16	-0.1017|-0.1017	8.5457|8.5457	0.33419|0.33419	0.0:0.2192:0.1981:0.5827|0.0:0.2192:0.1981:0.5827	.|.	.|283;295;339;339	.|B4DE61;B4DJQ0;E9PBG1;P48728	.|.;.;.;GCST_HUMAN	R|I	337|339;295;339;283;242	.|ENSP00000378747:M339I;ENSP00000415619:M295I;ENSP00000273588:M339I;ENSP00000443200:M283I;ENSP00000440672:M242I	.|ENSP00000273588:M339I	G|M	-|-	1|3	0|0	AMT|AMT	49430271|49430271	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.553000|0.553000	0.35397|0.35397	-2.269000|-2.269000	0.01168|0.01168	-1.645000|-1.645000	0.01515|0.01515	-0.379000|-0.379000	0.06801|0.06801	GGA|ATG		0.622	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		37	84	0	0	0	1	0	37	84				
SEMA5A	9037	broad.mit.edu	37	5	9122825	9122825	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:9122825G>A	ENST00000382496.5	-	14	2389	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	575	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCACACTGCGGGGCCGGGCT	0.632																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1723-1725)cCg>cTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							46.0	51.0	49.0					5																	9122825		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122825G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1724C>T	5.37:g.9122825G>A	ENSP00000371936:p.Pro575Leu						p.P575L	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			14	2389	-			575			TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1724C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828909	0.71258	.	.	ENSG00000112902	ENST00000382496	T	0.19938	2.11	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.69650	-0.5088	10	0.87932	D	0	.	15.7617	0.78087	0.0:0.0:1.0:0.0	.	575	Q13591	SEM5A_HUMAN	L	575	ENSP00000371936:P575L	ENSP00000371936:P575L	P	-	2	0	SEMA5A	9175825	1.000000	0.71417	0.951000	0.38953	0.124000	0.20399	9.583000	0.98217	2.388000	0.81334	0.557000	0.71058	CCG		0.632	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			6	98	0	0	0	1	0	6	98				
SCEL	8796	broad.mit.edu	37	13	78167687	78167687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr13:78167687C>A	ENST00000349847.3	+	12	815	c.731C>A	c.(730-732)tCa>tAa	p.S244*	SCEL_ENST00000377246.3_Intron|SCEL_ENST00000535157.1_Nonsense_Mutation_p.S222*	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	244					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTGGCCACTTCACTTCAGAGA	0.383																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(664-666)tCa>tAa		sciellin							125.0	115.0	119.0					13																	78167687		2203	4300	6503	SO:0001587	stop_gained	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78167687C>A	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.731C>A	13.37:g.78167687C>A	ENSP00000302579:p.Ser244*					SCEL_ENST00000349847.3_Nonsense_Mutation_p.S244*|SCEL_ENST00000377246.3_Intron	p.S222*	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	11	835	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	244					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Nonsense_Mutation	SNP	ENST00000349847.3	37	c.665C>A	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	36	5.912683	0.97099	.	.	ENSG00000136155	ENST00000535157;ENST00000349847	.	.	.	4.94	4.01	0.46588	.	0.184175	0.26895	N	0.021955	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-4.9534	10.5207	0.44918	0.0:0.8037:0.1963:0.0	.	.	.	.	X	222;244	.	ENSP00000302579:S244X	S	+	2	0	SCEL	77065688	0.306000	0.24490	0.970000	0.41538	0.974000	0.67602	1.836000	0.39191	2.658000	0.90341	0.655000	0.94253	TCA		0.383	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		4	31	1	0	2.56e-06	1	2.91337e-06	4	31				
FAM86EP	348926	broad.mit.edu	37	4	3948596	3948596	+	RNA	SNP	C	C	T	rs576229187	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:3948596C>T	ENST00000313946.8	-	0	1232				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AGCCAGCCTCCGCAGGACCCC	0.587													.|||	2	0.000399361	0.0	0.0	5008	,	,		15905	0.002		0.0	False		,,,				2504	0.0					ENST00000281228.8																			0																																																			0							g.chr4:3948596C>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3948596C>T						FAM86EP_ENST00000313946.8_RNA								0	789	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.587	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	72	0	0	0	1	0	4	72				
GUCY1A3	2982	broad.mit.edu	37	4	156643193	156643193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:156643193C>T	ENST00000296518.7	+	9	1929	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.R316*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.R574*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	574	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTTCAGATGCGAATTGGACT	0.398																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1720-1722)Cga>Tga		guanylate cyclase 1, soluble, alpha 3							262.0	250.0	254.0					4																	156643193		2203	4300	6503	SO:0001587	stop_gained	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156643193C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1720C>T	4.37:g.156643193C>T	ENSP00000296518:p.Arg574*					GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.R316*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.R574*	p.R574*			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	9	1929	+	all_hematologic(180;0.24)	Renal(120;0.0854)	574			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Nonsense_Mutation	SNP	ENST00000296518.7	37	c.1720C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	42	9.701470	0.99242	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.82	4.06	0.47325	.	0.000000	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1818	0.72965	0.2574:0.7426:0.0:0.0	.	.	.	.	X	574;574;574;574;316;574;574	.	ENSP00000296518:R574X	R	+	1	2	GUCY1A3	156862643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.900000	0.28431	0.758000	0.33059	0.585000	0.79938	CGA		0.398	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			15	149	0	0	0	1	0	15	149				
TPTEP1	387590	broad.mit.edu	37	22	17119488	17119488	+	lincRNA	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:17119488G>C	ENST00000426585.1	+	0	300									transmembrane phosphatase with tensin homology pseudogene 1																		AGTTTTCCTGGTCTTACTGGA	0.338																																						ENST00000426585.1																			0																																																			387590							g.chr22:17119488G>C			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17119488G>C														0	300	+									RNA	SNP	ENST00000426585.1	37																																																																																						0.338	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		12	40	0	0	0	1	0	12	40				
CPA3	1359	broad.mit.edu	37	3	148599396	148599396	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:148599396G>A	ENST00000296046.3	+	7	716	c.664G>A	c.(664-666)Gga>Aga	p.G222R	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	222					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAATGTTGATGGATATATTTG	0.363																																						ENST00000296046.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(664-666)Gga>Aga		carboxypeptidase A3 (mast cell)							129.0	120.0	123.0					3																	148599396		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148599396G>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.664G>A	3.37:g.148599396G>A	ENSP00000296046:p.Gly222Arg					RP11-680B3.2_ENST00000488190.1_RNA	p.G222R	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		7	716	+			222					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.664G>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654109	0.88056	.	.	ENSG00000163751	ENST00000296046	D	0.84944	-1.92	5.06	5.06	0.68205	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	D	0.95984	0.8692	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97823	1.0258	10	0.87932	D	0	.	17.3584	0.87343	0.0:0.0:1.0:0.0	.	222	P15088	CBPA3_HUMAN	R	222	ENSP00000296046:G222R	ENSP00000296046:G222R	G	+	1	0	CPA3	150082086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.955000	0.87856	2.612000	0.88384	0.655000	0.94253	GGA		0.363	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		13	50	0	0	0	1	0	13	50				
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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"""		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(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.(469-471)Gtc>Ttc	Other conserved DNA damage response genes	tumor protein p53							50.0	52.0	51.0					17																	7578461		2202	4300	6502	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.chr17:7578461C>A	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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	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_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	p.V157F	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)	5	601	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	35	1	0	1.36161e-19	1	1.87791e-19	31	35				
DUSP5	1847	broad.mit.edu	37	10	112266724	112266724	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:112266724A>G	ENST00000369583.3	+	3	844	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	187	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCCTTCCTCTACCTTGGAAGT	0.527																																						ENST00000369583.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(559-561)tAc>tGc		dual specificity phosphatase 5							209.0	206.0	207.0					10																	112266724		2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112266724A>G	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.560A>G	10.37:g.112266724A>G	ENSP00000358596:p.Tyr187Cys					DUSP5_ENST00000468749.1_3'UTR	p.Y187C	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	3	844	+		Breast(234;0.0848)	187			Tyrosine-protein phosphatase.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.560A>G	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548305	0.86127	.	.	ENSG00000138166	ENST00000369583	D	0.91068	-2.78	5.63	5.63	0.86233	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	10	0.87932	D	0	.	15.0207	0.71630	1.0:0.0:0.0:0.0	.	187	Q16690	DUS5_HUMAN	C	187	ENSP00000358596:Y187C	ENSP00000358596:Y187C	Y	+	2	0	DUSP5	112256714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.152000	0.67230	0.533000	0.62120	TAC		0.527	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		83	232	0	0	0	1	0	83	232				
DCXR	51181	broad.mit.edu	37	17	79994505	79994505	+	Silent	SNP	G	G	A	rs368246980		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:79994505G>A	ENST00000306869.2	-	5	412	c.363C>T	c.(361-363)ggC>ggT	p.G121G	RP13-650J16.1_ENST00000584705.1_RNA|DCXR_ENST00000584318.1_5'UTR|RP13-650J16.1_ENST00000582558.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	121					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGCTATTAAGCCCCTGGCCA	0.612																																						ENST00000306869.2																			0				kidney(1)|lung(3)	4						c.(361-363)ggC>ggT		dicarbonyl/L-xylulose reductase							51.0	55.0	54.0					17																	79994505		2203	4300	6503	SO:0001819	synonymous_variant	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79994505G>A	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 20C, member 1"""	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.363C>T	17.37:g.79994505G>A						DCXR_ENST00000584318.1_5'UTR	p.G121G	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		5	412	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		121					Q9BTZ3|Q9UHY9	Silent	SNP	ENST00000306869.2	37	c.363C>T	CCDS11799.1																																																																																				0.612	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			27	83	0	0	0	1	0	27	83				
NME4	4833	broad.mit.edu	37	16	449681	449681	+	Missense_Mutation	SNP	G	G	A	rs145944648	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:449681G>A	ENST00000219479.2	+	4	396	c.382G>A	c.(382-384)Gac>Aac	p.D128N	DECR2_ENST00000397710.1_5'Flank|DECR2_ENST00000424398.2_5'Flank|NME4_ENST00000397722.1_Missense_Mutation_p.D58N|NME4_ENST00000382940.4_Missense_Mutation_p.D136N|DECR2_ENST00000219481.5_5'Flank|NME4_ENST00000450036.1_Missense_Mutation_p.D58N	NM_005009.2	NP_005000.1	O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	128					CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				TGGACACACCGACTCGGCTGA	0.612													G|||	3	0.000599042	0.0008	0.0029	5008	,	,		19603	0.0		0.0	False		,,,				2504	0.0					ENST00000397722.1																			0				NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4						c.(172-174)Gac>Aac		NME/NM23 nucleoside diphosphate kinase 4		G	ASN/ASP	8,4396	14.3+/-33.2	0,8,2194	96.0	92.0	93.0		382	-0.9	0.0	16	dbSNP_134	93	0,8600		0,0,4300	yes	missense	NME4	NM_005009.2	23	0,8,6494	AA,AG,GG		0.0,0.1817,0.0615	benign	128/188	449681	8,12996	2202	4300	6502	SO:0001583	missense	4833				CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr16:449681G>A	Y07604	CCDS10408.1, CCDS66886.1, CCDS73797.1	16p13.3	2013-04-29	2012-05-18		ENSG00000103202	ENSG00000103202			7852	protein-coding gene	gene with protein product		601818	"""non-metastatic cells 4, protein expressed in"""			9099850, 19852809	Standard	NM_005009		Approved	nm23-H4, NM23H4, NDPKD	uc002cgz.3	O00746	OTTHUMG00000047995	ENST00000219479.2:c.382G>A	16.37:g.449681G>A	ENSP00000219479:p.Asp128Asn					NME4_ENST00000382940.4_Missense_Mutation_p.D136N|NME4_ENST00000450036.1_Missense_Mutation_p.D58N|NME4_ENST00000219479.2_Missense_Mutation_p.D128N	p.D58N			O00746	NDKM_HUMAN			4	646	+		Hepatocellular(16;0.00015)	128					A2IDD0|Q5U0M9	Missense_Mutation	SNP	ENST00000219479.2	37	c.172G>A	CCDS10408.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	G|G	0.016|0.016	-1.523905|-1.523905	0.00959|0.00959	0.001817|0.001817	0.0|0.0	ENSG00000103202|ENSG00000103202	ENST00000397722;ENST00000219479;ENST00000382940;ENST00000450036|ENST00000433358	T;T;T;T|.	0.76709|.	0.59;-1.04;-1.04;0.59|.	4.7|4.7	-0.881|-0.881	0.10607|0.10607	.|.	0.160339|.	0.53938|.	N|.	0.000042|.	T|T	0.13243|0.13243	0.0321|0.0321	N|N	0.05574|0.05574	-0.02|-0.02	0.32270|0.32270	N|N	0.569019|0.569019	B|.	0.24721|.	0.11|.	B|.	0.17979|.	0.02|.	T|T	0.33317|0.33317	-0.9873|-0.9873	10|5	0.02654|.	T|.	1|.	-20.2615|-20.2615	5.3461|5.3461	0.16010|0.16010	0.3345:0.1363:0.5292:0.0|0.3345:0.1363:0.5292:0.0	.|.	128|.	O00746|.	NDKM_HUMAN|.	N|Q	58;128;136;58|123	ENSP00000380834:D58N;ENSP00000219479:D128N;ENSP00000372398:D136N;ENSP00000389048:D58N|.	ENSP00000219479:D128N|.	D|R	+|+	1|2	0|0	NME4|NME4	389682|389682	0.634000|0.634000	0.27190|0.27190	0.000000|0.000000	0.03702|0.03702	0.024000|0.024000	0.10985|0.10985	1.081000|1.081000	0.30791|0.30791	-0.298000|-0.298000	0.08921|0.08921	0.462000|0.462000	0.41574|0.41574	GAC|CGA		0.612	NME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109256.2	NM_005009		18	121	0	0	0	1	0	18	121				
KCNA6	3742	broad.mit.edu	37	12	4919582	4919582	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:4919582G>C	ENST00000280684.3	+	1	1241	c.375G>C	c.(373-375)caG>caC	p.Q125H	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.Q125H			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	125					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCTTCTACCAGCTGGGGGACG	0.687										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(373-375)caG>caC		potassium voltage-gated channel, shaker-related subfamily, member 6							39.0	45.0	43.0					12																	4919582		2203	4299	6502	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919582G>C	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.375G>C	12.37:g.4919582G>C	ENSP00000280684:p.Gln125His	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.Q125H	p.Q125H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1241	+			125						Missense_Mutation	SNP	ENST00000280684.3	37	c.375G>C	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742131	0.49151	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.77229	-1.08;-1.08	4.59	0.909	0.19332	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.191076	0.44097	D	0.000481	D	0.84871	0.5568	M	0.83118	2.625	0.41209	D	0.986425	D	0.60575	0.988	D	0.66497	0.944	T	0.82623	-0.0366	10	0.72032	D	0.01	.	7.4732	0.27361	0.4622:0.0:0.5378:0.0	.	125	P17658	KCNA6_HUMAN	H	125	ENSP00000408321:Q125H;ENSP00000280684:Q125H	ENSP00000280684:Q125H	Q	+	3	2	KCNA6	4789843	0.556000	0.26538	0.990000	0.47175	0.994000	0.84299	-0.196000	0.09532	-0.015000	0.14150	0.563000	0.77884	CAG		0.687	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		28	87	0	0	0	1	0	28	87				
TRBV5-6	28609	broad.mit.edu	37	7	142131680	142131680	+	RNA	SNP	T	T	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:142131680T>G	ENST00000390375.2	-	0	115									T cell receptor beta variable 5-6																		GTGTGGGACTTTGGGTGACTC	0.557																																						ENST00000390375.2																			0																				92.0	86.0	88.0					7																	142131680		1970	4154	6124			28609							g.chr7:142131680T>G	L36092		7q34	2012-02-07			ENSG00000211728	ENSG00000211728		"""T cell receptors / TRB locus"""	12223	other	T cell receptor gene	"""T-cell receptor beta chain V region CTL-L17 -like"""					8650574	Standard	NG_001333		Approved	TRBV56, TCRBV5S2, TCRBV5S6			OTTHUMG00000158873		7.37:g.142131680T>G														0	115	-									RNA	SNP	ENST00000390375.2	37																																																																																						0.557	TRBV5-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352481.1	NG_001333		19	81	0	0	0	1	0	19	81				
AOX1	316	broad.mit.edu	37	2	201460033	201460033	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:201460033G>A	ENST00000374700.2	+	3	383	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	48	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGAGGAGGAGGCTGTGGTGC	0.418																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(142-144)Ggc>Agc		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						113.0	92.0	99.0					2																	201460033		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201460033G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.142G>A	2.37:g.201460033G>A	ENSP00000363832:p.Gly48Ser						p.G48S	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			3	383	+			48			2Fe-2S ferredoxin-type.		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.142G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448413	0.96205	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.54866	1.75;0.55	5.65	5.65	0.86999	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.049966	0.85682	D	0.000000	T	0.66066	0.2752	L	0.41710	1.295	0.80722	D	1	D	0.60575	0.988	D	0.71870	0.975	T	0.66064	-0.6016	10	0.72032	D	0.01	-18.1761	18.6545	0.91445	0.0:0.0:1.0:0.0	.	48	Q06278	ADO_HUMAN	S	48;23	ENSP00000363832:G48S;ENSP00000392485:G23S	ENSP00000363832:G48S	G	+	1	0	AOX1	201168278	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	8.408000	0.90221	2.941000	0.99782	0.655000	0.94253	GGC		0.418	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		3	15	0	0	0	1	0	3	15				
IL31RA	133396	broad.mit.edu	37	5	55212545	55212545	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:55212545C>A	ENST00000447346.2	+	15	1957	c.1892C>A	c.(1891-1893)cCc>cAc	p.P631H	IL31RA_ENST00000354961.4_Missense_Mutation_p.P612H|IL31RA_ENST00000396834.1_Missense_Mutation_p.P612H|IL31RA_ENST00000490985.1_Missense_Mutation_p.P489H|IL31RA_ENST00000359040.5_Missense_Mutation_p.P631H	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	599					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTTCCACCCCCAGTGACAAG	0.428																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1834-1836)cCc>cAc		interleukin 31 receptor A							94.0	95.0	95.0					5																	55212545		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55212545C>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1892C>A	5.37:g.55212545C>A	ENSP00000415900:p.Pro631His					IL31RA_ENST00000490985.1_Missense_Mutation_p.P489H|IL31RA_ENST00000447346.2_Missense_Mutation_p.P631H|IL31RA_ENST00000354961.4_Missense_Mutation_p.P612H|IL31RA_ENST00000359040.5_Missense_Mutation_p.P631H	p.P612H	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			17	2331	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	599					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.1835C>A	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212695	0.58452	.	.	ENSG00000164509	ENST00000396834;ENST00000447346;ENST00000359040;ENST00000490985;ENST00000354961	T;T;T;T;T	0.54071	0.88;0.75;0.84;0.59;0.88	5.55	5.55	0.83447	.	1.566950	0.03205	N	0.175281	T	0.73606	0.3608	M	0.62723	1.935	0.80722	D	1	D;D;D	0.67145	0.996;0.977;0.991	D;P;P	0.63877	0.919;0.823;0.823	T	0.57051	-0.7877	10	0.87932	D	0	-19.5667	15.3744	0.74593	0.0:1.0:0.0:0.0	.	631;612;631	Q8NI17-5;Q8NI17-3;Q8NI17-2	.;.;.	H	612;631;631;489;612	ENSP00000380046:P612H;ENSP00000415900:P631H;ENSP00000351935:P631H;ENSP00000427533:P489H;ENSP00000347047:P612H	ENSP00000347047:P612H	P	+	2	0	IL31RA	55248302	0.004000	0.15560	0.013000	0.15412	0.611000	0.37282	2.023000	0.41040	2.782000	0.95742	0.655000	0.94253	CCC		0.428	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		10	34	1	0	1.76689e-08	1	2.12142e-08	10	34				
PCMTD1	115294	broad.mit.edu	37	8	52733186	52733186	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:52733186C>A	ENST00000360540.5	-	7	1205	c.799G>T	c.(799-801)Ggg>Tgg	p.G267W	PCMTD1_ENST00000544451.1_Missense_Mutation_p.G191W|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.G267W	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	267						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGAGGAATCCCCTTGGCCTGC	0.423																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(799-801)Ggg>Tgg		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							108.0	114.0	112.0					8																	52733186		2203	4297	6500	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733186C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.799G>T	8.37:g.52733186C>A	ENSP00000353739:p.Gly267Trp					PCMTD1_ENST00000522514.1_Missense_Mutation_p.G267W|PCMTD1_ENST00000544451.1_Missense_Mutation_p.G191W|PCMTD1_ENST00000519559.1_5'UTR	p.G267W	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1205	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	267					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.799G>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703768	0.68501	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46451	0.87;0.87;0.87	5.77	5.77	0.91146	.	0.113584	0.64402	D	0.000016	T	0.63581	0.2523	L	0.59436	1.845	0.52099	D	0.99994	D;D;D	0.89917	0.997;1.0;0.986	P;D;P	0.78314	0.907;0.991;0.711	T	0.61461	-0.7058	10	0.52906	T	0.07	-11.7495	19.9832	0.97338	0.0:1.0:0.0:0.0	.	137;191;267	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	W	267;191;267	ENSP00000353739:G267W;ENSP00000444026:G191W;ENSP00000428099:G267W	ENSP00000353739:G267W	G	-	1	0	PCMTD1	52895739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.337000	0.65941	2.722000	0.93159	0.655000	0.94253	GGG		0.423	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		5	142	1	0	3.59834e-05	1	3.938e-05	5	142				
NRXN1	9378	broad.mit.edu	37	2	50280582	50280582	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:50280582C>T	ENST00000406316.2	-	20	5341	c.3865G>A	c.(3865-3867)Gcc>Acc	p.A1289T	NRXN1_ENST00000401710.1_Missense_Mutation_p.A307T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1319T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000404971.1_Missense_Mutation_p.A1359T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1289T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A254T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1289	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCACTATGGCGATGTTGGCA	0.507																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(4075-4077)Gcc>Acc		neurexin 1							142.0	119.0	127.0					2																	50280582		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50280582C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3865G>A	2.37:g.50280582C>T	ENSP00000384311:p.Ala1289Thr					NRXN1_ENST00000401669.2_Missense_Mutation_p.A1319T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A307T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A254T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1289T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1289T	p.A1359T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		22	5414	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1289					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.4075G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064993	0.36470	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.69561	1.01;2.24;0.3;0.22;-0.41;-0.3;-0.01;0.09	5.65	4.78	0.61160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.933113	0.08632	U	0.916882	T	0.43567	0.1253	N	0.11064	0.09	0.20196	N	0.99993	B;P;B;B	0.34757	0.009;0.467;0.067;0.024	B;B;B;B	0.15052	0.008;0.012;0.008;0.004	T	0.08932	-1.0698	10	0.16420	T	0.52	.	12.6556	0.56786	0.0:0.8622:0.0:0.1378	.	1359;254;1289;1311	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	T	254;208;307;1359;1289;1311;1319;1360;1311;1289	ENSP00000341184:A254T;ENSP00000385580:A307T;ENSP00000385142:A1359T;ENSP00000384311:A1289T;ENSP00000434015:A1311T;ENSP00000385017:A1319T;ENSP00000385434:A1311T;ENSP00000385681:A1289T	ENSP00000341184:A254T	A	-	1	0	NRXN1	50134086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.829000	0.39121	1.388000	0.46506	0.655000	0.94253	GCC		0.507	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			28	61	0	0	0	1	0	28	61				
EPB41L2	2037	broad.mit.edu	37	6	131190744	131190744	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:131190744C>T	ENST00000337057.3	-	15	2747	c.2566G>A	c.(2566-2568)Gtt>Att	p.V856I	EPB41L2_ENST00000368128.2_Missense_Mutation_p.V856I|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.V234I|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V786I|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V786I	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	856	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCAATGTCAACATGGGACACC	0.483																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2566-2568)Gtt>Att		erythrocyte membrane protein band 4.1-like 2							166.0	130.0	142.0					6																	131190744		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131190744C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2566G>A	6.37:g.131190744C>T	ENSP00000338481:p.Val856Ile					EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V786I|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V786I|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.V234I|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V856I	p.V856I	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2747	-	Breast(56;0.0639)		856			Carboxyl-terminal (CTD).		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2566G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975165	0.34848	.	.	ENSG00000079819	ENST00000337057;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000529208;ENST00000527423	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	5.71	4.83	0.62350	.	1.205350	0.06074	N	0.660710	T	0.13884	0.0336	L	0.48362	1.52	0.25078	N	0.990947	P;B	0.35433	0.501;0.021	B;B	0.30572	0.117;0.01	T	0.23119	-1.0197	10	0.31617	T	0.26	.	7.2117	0.25937	0.0:0.7053:0.1497:0.145	.	856;234	O43491;Q6R5J7	E41L2_HUMAN;.	I	856;856;786;234;786;255	ENSP00000338481:V856I;ENSP00000357110:V856I;ENSP00000436348:V786I;ENSP00000437207:V234I;ENSP00000436641:V786I;ENSP00000437295:V255I	ENSP00000338481:V856I	V	-	1	0	EPB41L2	131232437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.634000	0.37123	1.378000	0.46305	0.462000	0.41574	GTT		0.483	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			4	77	0	0	0	1	0	4	77				
KRT82	3888	broad.mit.edu	37	12	52797605	52797605	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:52797605G>T	ENST00000257974.2	-	2	577	c.500C>A	c.(499-501)cCc>cAc	p.P167H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	167	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTCGAAGATGGGCTCGATGTT	0.602																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(499-501)cCc>cAc		keratin 82							55.0	54.0	54.0					12																	52797605		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52797605G>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.500C>A	12.37:g.52797605G>T	ENSP00000257974:p.Pro167His						p.P167H	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	2	577	-			167			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.500C>A	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705416	0.48412	.	.	ENSG00000161850	ENST00000257974	D	0.88664	-2.41	5.14	5.14	0.70334	Filament (1);	0.000000	0.49916	D	0.000129	D	0.93311	0.7868	M	0.78049	2.395	0.29271	N	0.870704	D	0.89917	1.0	D	0.97110	1.0	D	0.89164	0.3532	10	0.87932	D	0	.	9.5169	0.39111	0.0799:0.1454:0.7747:0.0	.	167	Q9NSB4	KRT82_HUMAN	H	167	ENSP00000257974:P167H	ENSP00000257974:P167H	P	-	2	0	KRT82	51083872	0.253000	0.23982	1.000000	0.80357	0.555000	0.35460	2.240000	0.43088	2.569000	0.86673	0.462000	0.41574	CCC		0.602	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		23	70	1	0	2.21704e-12	1	2.8962e-12	23	70				
C10orf53	282966	broad.mit.edu	37	10	50902583	50902583	+	Splice_Site	SNP	G	G	T	rs375700971		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:50902583G>T	ENST00000374111.3	+	3	229		c.e3-1		C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000535836.1_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53											endometrium(1)|lung(6)	7		all_neural(218;0.107)				TGTTTCCCTAGGAGGCGATGG	0.438																																						ENST00000374111.3																			0				endometrium(1)|lung(6)	7						c.e3-1		chromosome 10 open reading frame 53							88.0	88.0	88.0					10																	50902583		1932	4148	6080	SO:0001630	splice_region_variant	282966							g.chr10:50902583G>T	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.218-1G>T	10.37:g.50902583G>T						C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000535836.1_Intron		NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN			3	229	+		all_neural(218;0.107)						A6NI81|A6NLE0|B9ZVK6	Splice_Site	SNP	ENST00000374111.3	37		CCDS41521.1	.	.	.	.	.	.	.	.	.	.	g	15.71	2.912500	0.52439	.	.	ENSG00000178645	ENST00000374111	.	.	.	5.48	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3388	0.55083	0.0825:0.0:0.9175:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf53	50572589	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	5.695000	0.68279	1.466000	0.48025	0.651000	0.88453	.		0.438	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554	Intron	18	36	1	0	1.01871e-10	1	1.28552e-10	18	36				
CNTN3	5067	broad.mit.edu	37	3	74420439	74420439	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:74420439G>C	ENST00000263665.6	-	5	593	c.566C>G	c.(565-567)tCt>tGt	p.S189C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	189	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCCACATCAGACGGCTCCAC	0.473																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(565-567)tCt>tGt		contactin 3 (plasmacytoma associated)							107.0	97.0	100.0					3																	74420439		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74420439G>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.566C>G	3.37:g.74420439G>C	ENSP00000263665:p.Ser189Cys						p.S189C	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	5	593	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	189			Ig-like C2-type 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.566C>G	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690421	0.48097	.	.	ENSG00000113805	ENST00000263665	T	0.15017	2.46	5.81	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.89601	3.045	0.58432	D	0.999997	D	0.76494	0.999	D	0.74023	0.982	T	0.61695	-0.7010	10	0.87932	D	0	.	15.1671	0.72837	0.0677:0.0:0.9323:0.0	.	189	Q9P232	CNTN3_HUMAN	C	189	ENSP00000263665:S189C	ENSP00000263665:S189C	S	-	2	0	CNTN3	74503129	1.000000	0.71417	0.013000	0.15412	0.044000	0.14063	7.672000	0.83956	1.464000	0.47987	0.655000	0.94253	TCT		0.473	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		4	33	0	0	0	1	0	4	33				
LILRP2	79166	broad.mit.edu	37	19	55222134	55222134	+	RNA	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55222134A>T	ENST00000413439.1	+	0	1661									leukocyte immunoglobulin-like receptor pseudogene 2																		CAGCTCACGCAGATTCTTCCC	0.602																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			79166							g.chr19:55222134A>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55222134A>T														0	1661	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.602	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		14	85	0	0	0	1	0	14	85				
CSMD3	114788	broad.mit.edu	37	8	113349777	113349777	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:113349777C>T	ENST00000297405.5	-	43	7080	c.6836G>A	c.(6835-6837)tGt>tAt	p.C2279Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.C2209Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.C2239Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2175Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2279	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATACCTTCACACCTTGGAAG	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6835-6837)tGt>tAt		CUB and Sushi multiple domains 3							81.0	74.0	76.0					8																	113349777		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113349777C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6836G>A	8.37:g.113349777C>T	ENSP00000297405:p.Cys2279Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.C2239Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2209Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2175Y	p.C2279Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			43	7080	-			2279			Sushi 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6836G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566045	0.86439	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74	5.31	5.31	0.75309	CUB (1);Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99912	0.9958	H	0.99815	4.805	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.95974	0.8972	10	0.87932	D	0	.	19.1802	0.93620	0.0:1.0:0.0:0.0	.	2175;2279;2239	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2239;2279;1549;2175;2209	ENSP00000345799:C2239Y;ENSP00000297405:C2279Y;ENSP00000341558:C1549Y;ENSP00000412263:C2175Y;ENSP00000343124:C2209Y	ENSP00000297405:C2279Y	C	-	2	0	CSMD3	113418953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.748000	0.94277	0.650000	0.86243	TGT		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	41	0	0	0	1	0	21	41				
DDX25	29118	broad.mit.edu	37	11	125791159	125791159	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:125791159T>C	ENST00000263576.6	+	11	1430	c.1275T>C	c.(1273-1275)taT>taC	p.Y425Y	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	425	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGCCGGACTATGAGACCTACC	0.493																																						ENST00000263576.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1273-1275)taT>taC		DEAD (Asp-Glu-Ala-Asp) box helicase 25							39.0	41.0	40.0					11																	125791159		1906	4118	6024	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125791159T>C	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1275T>C	11.37:g.125791159T>C						DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	p.Y425Y	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	11	1430	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	425			Helicase C-terminal.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.1275T>C	CCDS44766.1																																																																																				0.493	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		10	13	0	0	0	1	0	10	13				
OR12D2	26529	broad.mit.edu	37	6	29364551	29364551	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:29364551C>T	ENST00000383555.2	+	1	136	c.75C>T	c.(73-75)ctC>ctT	p.L25L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AGCCTTTTCTCTTCGTGGTTT	0.433																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(73-75)ctC>ctT		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							173.0	196.0	188.0					6																	29364551		1511	2708	4219	SO:0001819	synonymous_variant	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364551C>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.75C>T	6.37:g.29364551C>T						OR5V1_ENST00000377154.1_Intron	p.L25L	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	136	+			25					B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	c.75C>T	CCDS4659.1																																																																																				0.433	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			25	116	0	0	0	1	0	25	116				
CCDC102A	92922	broad.mit.edu	37	16	57552018	57552018	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:57552018G>T	ENST00000258214.2	-	6	1456	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	404										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTGGCCCTCAGGTCGCAGTCC	0.687																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(1210-1212)Ctg>Atg		coiled-coil domain containing 102A							38.0	46.0	43.0					16																	57552018		2191	4281	6472	SO:0001583	missense	92922							g.chr16:57552018G>T	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1210C>A	16.37:g.57552018G>T	ENSP00000258214:p.Leu404Met						p.L404M	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			6	1456	-			404					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1210C>A	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217160	0.79352	.	.	ENSG00000135736	ENST00000258214	T	0.51071	0.72	3.6	3.6	0.41247	.	0.164372	0.42172	D	0.000753	T	0.59810	0.2221	L	0.48986	1.54	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	T	0.65245	-0.6215	10	0.72032	D	0.01	-6.2863	14.7559	0.69564	0.0:0.0:1.0:0.0	.	404	Q96A19	C102A_HUMAN	M	404	ENSP00000258214:L404M	ENSP00000258214:L404M	L	-	1	2	CCDC102A	56109519	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.191000	0.65110	2.028000	0.59812	0.555000	0.69702	CTG		0.687	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		50	101	1	0	3.4597e-24	1	4.89904e-24	50	101				
DIP2C	22982	broad.mit.edu	37	10	429991	429991	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:429991T>A	ENST00000280886.6	-	16	1939	c.1852A>T	c.(1852-1854)Ata>Tta	p.I618L	DIP2C_ENST00000381496.3_Missense_Mutation_p.I511L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	618						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCGCCACTATCAGCATTCGC	0.507																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1852-1854)Ata>Tta		DIP2 disco-interacting protein 2 homolog C (Drosophila)							92.0	77.0	82.0					10																	429991		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:429991T>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1852A>T	10.37:g.429991T>A	ENSP00000280886:p.Ile618Leu					DIP2C_ENST00000381496.3_Missense_Mutation_p.I511L	p.I618L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	16	1939	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	618					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.1852A>T	CCDS7054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.731|0.731	-0.779941|-0.779941	0.02929|0.02929	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000280886;ENST00000381496|ENST00000421992	T;T|.	0.36520|.	1.25;1.25|.	5.43|5.43	5.43|5.43	0.79202|0.79202	AMP-dependent synthetase/ligase (1);|.	0.111737|.	0.64402|.	D|.	0.000010|.	T|.	0.37128|.	0.0992|.	N|N	0.12527|0.12527	0.23|0.23	0.33444|0.33444	D|D	0.582817|0.582817	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.15052|.	0.012;0.006|.	T|.	0.49597|.	-0.8923|.	10|.	0.02654|.	T|.	1|.	-32.3474|-32.3474	15.4805|15.4805	0.75521|0.75521	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	511;618|.	E7EPU2;Q9Y2E4|.	.;DIP2C_HUMAN|.	L|C	618;511|85	ENSP00000280886:I618L;ENSP00000370907:I511L|.	ENSP00000280886:I618L|.	I|X	-|-	1|3	0|0	DIP2C|DIP2C	419991|419991	0.999000|0.999000	0.42202|0.42202	0.984000|0.984000	0.44739|0.44739	0.007000|0.007000	0.05969|0.05969	2.714000|2.714000	0.47202|0.47202	2.051000|2.051000	0.60960|0.60960	0.460000|0.460000	0.39030|0.39030	ATA|TGA		0.507	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		17	49	0	0	0	1	0	17	49				
DPP3	10072	broad.mit.edu	37	11	66262881	66262881	+	Missense_Mutation	SNP	A	A	T	rs201439382		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:66262881A>T	ENST00000360510.2	+	14	1563	c.1498A>T	c.(1498-1500)Agc>Tgc	p.S500C	DPP3_ENST00000532677.1_Missense_Mutation_p.S519C|DPP3_ENST00000541961.1_Missense_Mutation_p.S500C|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000530165.1_Missense_Mutation_p.S470C|DPP3_ENST00000453114.1_Missense_Mutation_p.S500C|DPP3_ENST00000531863.1_Missense_Mutation_p.S520C			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	500					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TAGCAAGTTCAGCACCATCGC	0.617																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1555-1557)Agc>Tgc		dipeptidyl-peptidase 3							41.0	37.0	39.0					11																	66262881		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66262881A>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1498A>T	11.37:g.66262881A>T	ENSP00000353701:p.Ser500Cys					DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.S500C|DPP3_ENST00000360510.2_Missense_Mutation_p.S500C|DPP3_ENST00000531863.1_Missense_Mutation_p.S520C|DPP3_ENST00000530165.1_Missense_Mutation_p.S470C|DPP3_ENST00000541961.1_Missense_Mutation_p.S500C	p.S519C	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			14	1956	+			500					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1555A>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686264	0.88639	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	5.86	5.86	0.93980	.	0.089832	0.85682	D	0.000000	T	0.44117	0.1278	M	0.74881	2.28	0.45979	D	0.998797	D;D	0.65815	0.995;0.985	P;P	0.58331	0.837;0.759	T	0.45425	-0.9262	10	0.66056	D	0.02	.	9.4882	0.38942	0.8424:0.0:0.0:0.1576	.	519;500	G3V1D3;Q9NY33	.;DPP3_HUMAN	C	520;519;500;500;500;470;398	ENSP00000432782:S520C;ENSP00000435284:S519C;ENSP00000353701:S500C;ENSP00000389943:S500C;ENSP00000440502:S500C;ENSP00000436941:S470C	ENSP00000353701:S500C	S	+	1	0	DPP3	66019457	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.867000	0.69597	2.241000	0.73720	0.482000	0.46254	AGC		0.617	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			6	21	0	0	0	1	0	6	21				
PCLO	27445	broad.mit.edu	37	7	82579452	82579452	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:82579452C>A	ENST00000333891.9	-	6	10789	c.10452G>T	c.(10450-10452)atG>atT	p.M3484I	PCLO_ENST00000423517.2_Missense_Mutation_p.M3484I|PCLO_ENST00000437081.1_Missense_Mutation_p.M204I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTAGTAGGCATATCCCACT	0.468																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10450-10452)atG>atT		piccolo presynaptic cytomatrix protein							135.0	125.0	128.0					7																	82579452		1988	4149	6137	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579452C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10452G>T	7.37:g.82579452C>A	ENSP00000334319:p.Met3484Ile					PCLO_ENST00000437081.1_Missense_Mutation_p.M204I|PCLO_ENST00000333891.8_Missense_Mutation_p.M3484I	p.M3484I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10789	-			3415						Missense_Mutation	SNP	ENST00000333891.9	37	c.10452G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	6.049	0.377402	0.11466	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.34667	2.45;2.45;1.35	5.5	5.5	0.81552	.	.	.	.	.	T	0.29652	0.0740	L	0.29908	0.895	0.22571	N	0.998979	B;B;B	0.12013	0.0;0.005;0.005	B;B;B	0.06405	0.0;0.002;0.002	T	0.16748	-1.0392	9	0.87932	D	0	.	12.5061	0.55981	0.2806:0.7194:0.0:0.0	.	3415;3484;3484	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	I	3415;3484;3484;204	ENSP00000334319:M3484I;ENSP00000388393:M3484I;ENSP00000393760:M204I	ENSP00000334319:M3484I	M	-	3	0	PCLO	82417388	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	2.471000	0.45127	2.585000	0.87301	0.655000	0.94253	ATG		0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	44	1	0	6.40141e-05	1	6.94422e-05	11	44				
PLRG1	5356	broad.mit.edu	37	4	155461982	155461982	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:155461982A>C	ENST00000499023.2	-	9	918	c.792T>G	c.(790-792)tgT>tgG	p.C264W	PLRG1_ENST00000302078.5_Missense_Mutation_p.C255W|PLRG1_ENST00000393905.2_Missense_Mutation_p.C264W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	264					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TGTCTTCTCCACAAGAGAACA	0.393																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(790-792)tgT>tgG		pleiotropic regulator 1							113.0	114.0	114.0					4																	155461982		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155461982A>C	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.792T>G	4.37:g.155461982A>C	ENSP00000424417:p.Cys264Trp					PLRG1_ENST00000393905.2_Missense_Mutation_p.C264W|PLRG1_ENST00000302078.5_Missense_Mutation_p.C255W	p.C264W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			9	918	-	all_hematologic(180;0.215)	Renal(120;0.0854)	264					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.792T>G	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585251	0.66105	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	T;T;T	0.61274	0.12;0.12;0.12	5.83	3.44	0.39384	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.969;0.997	T	0.76942	-0.2772	10	0.72032	D	0.01	-17.5703	9.8928	0.41300	0.8632:0.0:0.1368:0.0	.	255;264	O43660-2;O43660	.;PLRG1_HUMAN	W	264;264;255	ENSP00000424417:C264W;ENSP00000377483:C264W;ENSP00000303191:C255W	ENSP00000303191:C255W	C	-	3	2	PLRG1	155681432	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.968000	0.40500	0.489000	0.27749	0.482000	0.46254	TGT		0.393	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		11	64	0	0	0	1	0	11	64				
FAM163B	642968	broad.mit.edu	37	9	136444284	136444284	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:136444284C>T	ENST00000496132.1	-	3	605	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	FAM163B_ENST00000356873.3_Missense_Mutation_p.V121M			P0C2L3	F163B_HUMAN	family with sequence similarity 163, member B	121						integral component of membrane (GO:0016021)				large_intestine(1)	1						TTGTAGAGCACGCGCTCCCCG	0.716																																						ENST00000496132.1																			0				large_intestine(1)	1						c.(361-363)Gtg>Atg		family with sequence similarity 163, member B							6.0	7.0	7.0					9																	136444284		1804	3713	5517	SO:0001583	missense	642968					integral to membrane		g.chr9:136444284C>T	BX629352	CCDS35171.1	9q34.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000196990	ENSG00000196990			33277	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 166"""	C9orf166			Standard	NM_001080515		Approved		uc011mdm.2	P0C2L3	OTTHUMG00000159557	ENST00000496132.1:c.361G>A	9.37:g.136444284C>T	ENSP00000419867:p.Val121Met					FAM163B_ENST00000356873.3_Missense_Mutation_p.V121M	p.V121M			P0C2L3	F163B_HUMAN			3	605	-			121					B2RUZ5	Missense_Mutation	SNP	ENST00000496132.1	37	c.361G>A	CCDS35171.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727140	0.69074	.	.	ENSG00000196990	ENST00000496132;ENST00000356873	.	.	.	4.1	3.17	0.36434	.	0.153488	0.42682	D	0.000664	T	0.51839	0.1698	L	0.40543	1.245	0.38093	D	0.93701	D	0.56521	0.976	P	0.53518	0.728	T	0.59123	-0.7513	9	0.72032	D	0.01	-36.3681	9.1061	0.36698	0.0:0.8181:0.0:0.1819	.	121	P0C2L3	F163B_HUMAN	M	121	.	ENSP00000349336:V121M	V	-	1	0	FAM163B	135434105	0.899000	0.30636	0.943000	0.38184	0.930000	0.56654	1.613000	0.36900	2.013000	0.59113	0.561000	0.74099	GTG		0.716	FAM163B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356190.1	NM_001080515		6	20	0	0	0	1	0	6	20				
RUNX1T1	862	broad.mit.edu	37	8	92972525	92972525	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:92972525G>C	ENST00000523629.1	-	12	2214	c.1760C>G	c.(1759-1761)aCt>aGt	p.T587S	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T550S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T550S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T587S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T598S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T550S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	587					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGACCTCGGAGTGGCTGCTGG	0.622																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1759-1761)aCt>aGt		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							77.0	53.0	61.0					8																	92972525		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972525G>C	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1760C>G	8.37:g.92972525G>C	ENSP00000428543:p.Thr587Ser					RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T550S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T598S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T550S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T587S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T550S	p.T587S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		12	2214	-			587					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1760C>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.343915	0.41498	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.30981	1.51;1.52;1.51;1.52;1.52;1.52;1.51;1.52	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.38175	1.15	0.58432	D	0.999999	B;B;B;B	0.29378	0.037;0.243;0.019;0.013	B;B;B;B	0.27380	0.023;0.079;0.007;0.015	T	0.02844	-1.1103	10	0.23891	T	0.37	-14.7346	20.1802	0.98196	0.0:0.0:1.0:0.0	.	598;550;587;560	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	S	587;560;587;550;550;550;598;560	ENSP00000428543:T587S;ENSP00000379520:T560S;ENSP00000265814:T587S;ENSP00000353504:T550S;ENSP00000390137:T550S;ENSP00000428742:T550S;ENSP00000402257:T598S;ENSP00000430728:T560S	ENSP00000265814:T587S	T	-	2	0	RUNX1T1	93041701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.187000	0.94912	2.777000	0.95525	0.655000	0.94253	ACT		0.622	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		7	14	0	0	0	1	0	7	14				
EPHA2	1969	broad.mit.edu	37	1	16458622	16458622	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:16458622C>A	ENST00000358432.5	-	13	2416	c.2262G>T	c.(2260-2262)aaG>aaT	p.K754N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	754	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGTCAGACACCTTGCAGACCA	0.612																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2260-2262)aaG>aaT		EPH receptor A2	Dasatinib(DB01254)						174.0	148.0	156.0					1																	16458622		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16458622C>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2262G>T	1.37:g.16458622C>A	ENSP00000351209:p.Lys754Asn						p.K754N	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	13	2416	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	754			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2262G>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005771	0.74932	.	.	ENSG00000142627	ENST00000358432	T	0.73152	-0.72	6.07	3.21	0.36854	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000010	D	0.89252	0.6662	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90544	0.4504	10	0.87932	D	0	.	10.2373	0.43290	0.0:0.7806:0.0:0.2194	.	754	P29317	EPHA2_HUMAN	N	754	ENSP00000351209:K754N	ENSP00000351209:K754N	K	-	3	2	EPHA2	16331209	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.433000	0.21477	0.919000	0.36945	-0.123000	0.14984	AAG		0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		39	111	1	0	2.05212e-20	1	2.86217e-20	39	111				
ATP6V1H	51606	broad.mit.edu	37	8	54669137	54669137	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:54669137G>A	ENST00000359530.2	-	12	1518	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R379W|ATP6V1H_ENST00000523899.1_Intron|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.R401W|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R419W	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	419					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GGATAATGCCGCACATATTCT	0.368																																						ENST00000355221.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18						c.(1201-1203)Cgg>Tgg		ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H							114.0	99.0	104.0					8																	54669137		2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54669137G>A	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1255C>T	8.37:g.54669137G>A	ENSP00000352522:p.Arg419Trp					ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R379W|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R419W|ATP6V1H_ENST00000523899.1_Intron|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.R419W	p.R401W	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		11	1760	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	419					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.1201C>T	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014981	0.75161	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.63	1.49	0.22878	ATPase, V1 complex, subunit H, C-terminal (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86928	0.2071	9	0.87932	D	0	-27.1925	14.4678	0.67494	0.0:0.0:0.497:0.503	.	401;419	Q9UI12-2;Q9UI12	.;VATH_HUMAN	W	401;379;419;419	.	ENSP00000347359:R401W	R	-	1	2	ATP6V1H	54831690	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.116000	0.50399	0.270000	0.21984	-0.188000	0.12872	CGG		0.368	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		8	44	0	0	0	1	0	8	44				
GRIK3	2899	broad.mit.edu	37	1	37285383	37285383	+	Silent	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:37285383A>G	ENST00000373091.3	-	12	1843	c.1827T>C	c.(1825-1827)acT>acC	p.T609T	GRIK3_ENST00000373093.4_Silent_p.T609T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	609					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGTTAAGCAGAGTGAAGTTAT	0.572																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1825-1827)acT>acC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						111.0	92.0	98.0					1																	37285383		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37285383A>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1827T>C	1.37:g.37285383A>G						GRIK3_ENST00000373093.4_Silent_p.T609T	p.T609T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			12	1843	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	609					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.1827T>C	CCDS416.1																																																																																				0.572	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		3	14	0	0	0	1	0	3	14				
NOP56	10528	broad.mit.edu	37	20	2638813	2638813	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:2638813G>A	ENST00000329276.5	+	12	2174	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K	SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORA51_ENST00000606420.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	553	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GCAGGCCACAGAAGTGGCTCC	0.522																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1657-1659)aGa>aAa		NOP56 ribonucleoprotein							20.0	21.0	21.0					20																	2638813		2201	4300	6501	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2638813G>A	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1658G>A	20.37:g.2638813G>A	ENSP00000370589:p.Arg553Lys					NOP56_ENST00000492135.1_3'UTR	p.R553K	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			12	2174	+			553			Lys-rich.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.1658G>A	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	8.057	0.767346	0.15983	.	.	ENSG00000101361	ENST00000329276	T	0.42900	0.96	5.49	-6.96	0.01622	.	1.882740	0.01760	N	0.030524	T	0.13798	0.0334	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23511	-1.0186	10	0.06891	T	0.86	-0.8668	2.763	0.05312	0.454:0.2931:0.1464:0.1064	.	553	O00567	NOP56_HUMAN	K	553	ENSP00000370589:R553K	ENSP00000370589:R553K	R	+	2	0	NOP56	2586813	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.109000	0.15417	-0.573000	0.05998	-0.365000	0.07479	AGA		0.522	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		3	13	0	0	0	1	0	3	13				
IL17REL	400935	broad.mit.edu	37	22	50438984	50438984	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:50438984G>A	ENST00000389983.2	-	6	521	c.257C>T	c.(256-258)gCc>gTc	p.A86V	IL17REL_ENST00000341280.5_Missense_Mutation_p.A86V	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	86										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGTGCTGGGCCACGCTCAC	0.647																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(256-258)gCc>gTc		interleukin 17 receptor E-like							77.0	72.0	73.0					22																	50438984		2203	4300	6503	SO:0001583	missense	400935							g.chr22:50438984G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.257C>T	22.37:g.50438984G>A	ENSP00000374633:p.Ala86Val					IL17REL_ENST00000341280.5_Missense_Mutation_p.A86V	p.A86V	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	6	521	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	86					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.257C>T	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	g	17.91	3.503256	0.64298	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.14640	2.49;2.49	3.84	2.72	0.32119	.	0.439249	0.20810	U	0.085264	T	0.27489	0.0675	M	0.62723	1.935	0.22001	N	0.999428	D	0.71674	0.998	D	0.63793	0.918	T	0.01476	-1.1345	10	0.66056	D	0.02	.	8.4471	0.32849	0.0:0.2412:0.7587:0.0	.	86	Q6ZVW7	I17EL_HUMAN	V	86	ENSP00000374633:A86V;ENSP00000342520:A86V	ENSP00000342520:A86V	A	-	2	0	IL17REL	48781111	0.584000	0.26766	0.997000	0.53966	0.594000	0.36715	0.419000	0.21247	1.687000	0.51057	0.651000	0.88453	GCC		0.647	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		20	65	0	0	0	1	0	20	65				
CORIN	10699	broad.mit.edu	37	4	47605460	47605460	+	Silent	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:47605460A>G	ENST00000273857.4	-	20	2765	c.2766T>C	c.(2764-2766)ccT>ccC	p.P922P	CORIN_ENST00000508498.1_Silent_p.P783P|CORIN_ENST00000502252.1_Silent_p.P855P|CORIN_ENST00000505909.1_Silent_p.P885P	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	922	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGTACGTGTCAGGCTCTAGCC	0.512																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2764-2766)ccT>ccC		corin, serine peptidase							90.0	79.0	82.0					4																	47605460		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47605460A>G	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2766T>C	4.37:g.47605460A>G						CORIN_ENST00000502252.1_Silent_p.P855P|CORIN_ENST00000505909.1_Silent_p.P885P|CORIN_ENST00000508498.1_Silent_p.P783P	p.P922P	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			20	2765	-			922			Peptidase S1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.2766T>C	CCDS3477.1																																																																																				0.512	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			22	40	0	0	0	1	0	22	40				
AC005013.5	0	broad.mit.edu	37	7	28997564	28997564	+	lincRNA	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:28997564G>A	ENST00000436594.1	+	0	192				TRIL_ENST00000322982.3_RNA																							TGGGGATGCTGGCAGTCGCAG	0.721																																						ENST00000322982.3																			0													TLR4 interactor with leucine-rich repeats							32.0	34.0	34.0					7																	28997564		2011	4163	6174			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28997564G>A																													7.37:g.28997564G>A						AC005013.5_ENST00000436594.1_lincRNA				Q7L0X0	TRIL_HUMAN			0	370	-									RNA	SNP	ENST00000436594.1	37																																																																																						0.721	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			15	32	0	0	0	1	0	15	32				
DST	667	broad.mit.edu	37	6	56473886	56473886	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:56473886G>T	ENST00000361203.3	-	36	4914	c.4907C>A	c.(4906-4908)gCt>gAt	p.A1636D	DST_ENST00000312431.6_Missense_Mutation_p.A1636D|DST_ENST00000370769.4_Missense_Mutation_p.A1636D|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Missense_Mutation_p.A1814D|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.A1310D			Q03001	DYST_HUMAN	dystonin	1636					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGACGCAGCAGAAATAAT	0.408																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5440-5442)gCt>gAt		dystonin							242.0	234.0	237.0					6																	56473886		1907	4131	6038	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56473886G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4907C>A	6.37:g.56473886G>T	ENSP00000354508:p.Ala1636Asp					DST_ENST00000361203.3_Missense_Mutation_p.A1636D|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.A1636D|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.A1636D|DST_ENST00000446842.2_Missense_Mutation_p.A1310D|DST_ENST00000421834.2_Intron	p.A1814D			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	5440	-	Lung NSC(77;0.103)		1636					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.5441C>A		.	.	.	.	.	.	.	.	.	.	G	0.814	-0.750949	0.03041	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.52	3.75	0.43078	.	0.423937	0.19621	N	0.109918	T	0.24547	0.0595	.	.	.	0.25226	N	0.989868	B	0.15141	0.012	B	0.12156	0.007	T	0.04870	-1.0921	8	0.12766	T	0.61	.	7.4368	0.27160	0.1481:0.0:0.6873:0.1645	.	1310	Q03001-9	.	D	1814;1636;1310;1636;1636;1310	ENSP00000359790:A1814D;ENSP00000359805:A1636D;ENSP00000393645:A1310D;ENSP00000307959:A1636D;ENSP00000354508:A1636D;ENSP00000404924:A1310D	ENSP00000307959:A1636D	A	-	2	0	DST	56581845	0.001000	0.12720	0.418000	0.26571	0.487000	0.33371	0.612000	0.24283	0.818000	0.34468	-0.252000	0.11476	GCT		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		49	135	1	0	1.42923e-14	1	1.91424e-14	49	135				
DNAH11	8701	broad.mit.edu	37	7	21639538	21639538	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:21639538C>A	ENST00000409508.3	+	15	2832	c.2801C>A	c.(2800-2802)aCa>aAa	p.T934K	DNAH11_ENST00000328843.6_Missense_Mutation_p.T934K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	934	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGAAGAATACAGAGAAACAA	0.408									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2800-2802)aCa>aAa		dynein, axonemal, heavy chain 11							84.0	79.0	81.0					7																	21639538		1838	4079	5917	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639538C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2801C>A	7.37:g.21639538C>A	ENSP00000475939:p.Thr934Lys					DNAH11_ENST00000409508.3_Missense_Mutation_p.T934K	p.T934K			Q96DT5	DYH11_HUMAN			15	2832	+			934			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2801C>A		.	.	.	.	.	.	.	.	.	.	C	19.49	3.838370	0.71373	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.58	4.71	0.59529	.	0.333015	0.30446	N	0.009614	T	0.36303	0.0962	.	.	.	0.47037	D	0.999295	D	0.63880	0.993	P	0.56343	0.796	T	0.07424	-1.0773	9	0.16896	T	0.51	.	14.6018	0.68445	0.0:0.9288:0.0:0.0712	.	934	Q96DT5	DYH11_HUMAN	K	934	ENSP00000330671:T934K	ENSP00000330671:T934K	T	+	2	0	DNAH11	21606063	1.000000	0.71417	0.957000	0.39632	0.800000	0.45204	1.694000	0.37752	1.502000	0.48669	0.561000	0.74099	ACA		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	27	1	0	0.00621372	1	0.00653056	10	27				
LHFPL3	375612	broad.mit.edu	37	7	104377184	104377184	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:104377184C>T	ENST00000401970.2	+	2	588	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000543266.1_Missense_Mutation_p.R170W|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000535008.1_Missense_Mutation_p.R170W|LHFPL3_ENST00000424859.1_Missense_Mutation_p.R156W			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	170						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						TGAAGTAAAACGGATGTGTGG	0.453																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(508-510)Cgg>Tgg		lipoma HMGIC fusion partner-like 3							77.0	75.0	75.0					7																	104377184		1926	4155	6081	SO:0001583	missense	375612					integral to membrane		g.chr7:104377184C>T	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.466C>T	7.37:g.104377184C>T	ENSP00000385374:p.Arg156Trp					LHFPL3_ENST00000543266.1_Missense_Mutation_p.R170W|LHFPL3_ENST00000424859.1_Missense_Mutation_p.R156W|LHFPL3_ENST00000401970.2_Missense_Mutation_p.R156W	p.R170W			Q86UP9	LHPL3_HUMAN			4	632	+			156					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	37	c.508C>T		.	.	.	.	.	.	.	.	.	.	C	21.9	4.218232	0.79464	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	T;T;T;T	0.80738	-0.73;-1.41;-0.73;-1.41	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.90225	0.6944	M	0.84948	2.725	0.45946	D	0.99877	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	D	0.91936	0.5559	10	0.72032	D	0.01	2.6052	16.1344	0.81475	0.1347:0.8653:0.0:0.0	.	170;170	A1L384;A4D0Q5	.;.	W	156;170;156;170	ENSP00000393128:R156W;ENSP00000444350:R170W;ENSP00000385374:R156W;ENSP00000445976:R170W	ENSP00000385374:R156W	R	+	1	2	LHFPL3	104164420	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.115000	0.50391	1.472000	0.48140	0.650000	0.86243	CGG		0.453	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		10	18	0	0	0	1	0	10	18				
HIST1H2AH	85235	broad.mit.edu	37	6	27114944	27114944	+	Missense_Mutation	SNP	G	G	T	rs150434841	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:27114944G>T	ENST00000377459.1	+	1	84	c.37G>T	c.(37-39)Gcc>Tcc	p.A13S	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAAGCTCGCGCCAAGGCCAA	0.577													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17165	0.0		0.0	False		,,,				2504	0.0					ENST00000377459.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(37-39)Gcc>Tcc		histone cluster 1, H2ah		G	SER/ALA	2,4404	2.1+/-5.4	0,2,2201	66.0	74.0	71.0		37	4.0	1.0	6	dbSNP_134	71	0,8600		0,0,4300	no	missense	HIST1H2AH	NM_080596.1	99	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	benign	13/129	27114944	2,13004	2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114944G>T	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.37G>T	6.37:g.27114944G>T	ENSP00000366679:p.Ala13Ser						p.A13S	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN			1	84	+			13						Missense_Mutation	SNP	ENST00000377459.1	37	c.37G>T	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619214	0.28801	4.54E-4	0.0	ENSG00000184825	ENST00000377459	D	0.83419	-1.72	3.95	3.95	0.45737	Histone-fold (2);Histone H2A (1);	0.000000	0.40728	N	0.001035	T	0.59445	0.2194	N	0.05619	-0.005	0.40194	D	0.977431	B	0.22080	0.064	B	0.31547	0.132	T	0.63225	-0.6685	10	0.48119	T	0.1	.	14.3093	0.66405	0.0:0.0:1.0:0.0	.	13	Q96KK5	H2A1H_HUMAN	S	13	ENSP00000366679:A13S	ENSP00000366679:A13S	A	+	1	0	HIST1H2AH	27222923	1.000000	0.71417	0.995000	0.50966	0.005000	0.04900	8.621000	0.90949	2.142000	0.66516	0.655000	0.94253	GCC		0.577	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		13	78	1	0	7.03913e-09	1	8.53437e-09	13	78				
OPRK1	4986	broad.mit.edu	37	8	54163396	54163396	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:54163396C>T	ENST00000265572.3	-	2	499	c.202G>A	c.(202-204)Gta>Ata	p.V68I	OPRK1_ENST00000520287.1_Missense_Mutation_p.V68I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	68					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACGAACACTACGGAGTAGACC	0.701																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(202-204)Gta>Ata		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						44.0	35.0	38.0					8																	54163396		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54163396C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.202G>A	8.37:g.54163396C>T	ENSP00000265572:p.Val68Ile					OPRK1_ENST00000520287.1_Missense_Mutation_p.V68I	p.V68I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			2	499	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	68					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.202G>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642991	0.67244	.	.	ENSG00000082556	ENST00000265572;ENST00000520287;ENST00000396798	T;T	0.19938	2.11;2.11	4.93	4.05	0.47172	.	0.172876	0.51477	D	0.000088	T	0.21347	0.0514	M	0.63843	1.955	0.47276	D	0.999379	B	0.13145	0.007	B	0.10450	0.005	T	0.04752	-1.0929	10	0.14656	T	0.56	.	12.7603	0.57361	0.1644:0.8356:0.0:0.0	.	68	P41145	OPRK_HUMAN	I	68;68;54	ENSP00000265572:V68I;ENSP00000429706:V68I	ENSP00000265572:V68I	V	-	1	0	OPRK1	54325949	0.885000	0.30320	0.994000	0.49952	0.911000	0.54048	1.730000	0.38125	1.291000	0.44653	0.456000	0.33151	GTA		0.701	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			4	50	0	0	0	1	0	4	50				
CCDC108	255101	broad.mit.edu	37	2	219892334	219892334	+	Intron	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:219892334G>C	ENST00000341552.5	-	13	2295				CCDC108_ENST00000409865.3_Missense_Mutation_p.S739C|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000410037.1_Missense_Mutation_p.S685C|CCDC108_ENST00000441968.1_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCTAGCAGAGACCCCGCA	0.602																																						ENST00000409865.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2215-2217)tCt>tGt		coiled-coil domain containing 108							49.0	52.0	51.0					2																	219892334		2201	4294	6495	SO:0001627	intron_variant	255101					integral to membrane	structural molecule activity	g.chr2:219892334G>C	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2211+37C>G	2.37:g.219892334G>C						CCDC108_ENST00000410037.1_Missense_Mutation_p.S685C|CCDC108_ENST00000341552.5_Intron|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron	p.S739C	NM_001278295.1	NP_001265224.1	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2219	-		Renal(207;0.0915)	0					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2216C>G	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262220	0.23051	.	.	ENSG00000181378	ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T	0.08720	3.06;3.12	3.34	0.255	0.15561	.	.	.	.	.	T	0.06096	0.0158	.	.	.	0.09310	N	0.999996	B;B	0.14012	0.009;0.009	B;B	0.14578	0.011;0.011	T	0.36672	-0.9738	8	0.54805	T	0.06	.	5.2537	0.15537	0.122:0.4106:0.4674:0.0	.	739;684	E9PG25;B4DYZ8	.;.	C	226;739;685;684	ENSP00000386945:S739C;ENSP00000386258:S685C	ENSP00000386945:S739C	S	-	2	0	CCDC108	219600578	0.000000	0.05858	0.027000	0.17364	0.034000	0.12701	-0.050000	0.11904	0.048000	0.15891	-0.291000	0.09656	TCT		0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		8	123	0	0	0	1	0	8	123				
ZNF479	90827	broad.mit.edu	37	7	57188671	57188671	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:57188671T>C	ENST00000331162.4	-	5	721	c.451A>G	c.(451-453)Act>Gct	p.T151A		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTTGGGTAGTTGACAAACAT	0.303																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(451-453)Act>Gct		zinc finger protein 479							70.0	66.0	68.0					7																	57188671		1843	4096	5939	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188671T>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.451A>G	7.37:g.57188671T>C	ENSP00000333776:p.Thr151Ala						p.T151A	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	721	-			151						Missense_Mutation	SNP	ENST00000331162.4	37	c.451A>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	3.142	-0.176022	0.06380	.	.	ENSG00000185177	ENST00000331162	T	0.46819	0.86	1.29	0.0437	0.14223	.	.	.	.	.	T	0.28167	0.0695	L	0.28054	0.825	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17961	-1.0352	9	0.35671	T	0.21	.	2.8271	0.05488	0.0:0.3345:0.0:0.6655	.	151	Q96JC4	ZN479_HUMAN	A	151	ENSP00000333776:T151A	ENSP00000333776:T151A	T	-	1	0	ZNF479	57192613	0.872000	0.30054	0.002000	0.10522	0.012000	0.07955	1.154000	0.31688	0.562000	0.29204	0.329000	0.21502	ACT		0.303	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		17	55	0	0	0	1	0	17	55				
PRR19	284338	broad.mit.edu	37	19	42813749	42813749	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:42813749G>T	ENST00000499536.2	+	1	824	c.13G>T	c.(13-15)Gga>Tga	p.G5*	PRR19_ENST00000598490.1_Nonsense_Mutation_p.G5*|PRR19_ENST00000341747.3_Nonsense_Mutation_p.G5*			A6NJB7	PRR19_HUMAN	proline rich 19	5										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGATACCCAGGGACCAGTCTC	0.582																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(13-15)Gga>Tga		proline rich 19							69.0	78.0	75.0					19																	42813749		2203	4300	6503	SO:0001587	stop_gained	284338							g.chr19:42813749G>T	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.13G>T	19.37:g.42813749G>T	ENSP00000445247:p.Gly5*					PRR19_ENST00000341747.3_Nonsense_Mutation_p.G5*|PRR19_ENST00000598490.1_Nonsense_Mutation_p.G5*	p.G5*			A6NJB7	PRR19_HUMAN			1	824	+		Prostate(69;0.00682)	5					A8K663|B3KW48|Q6P584	Nonsense_Mutation	SNP	ENST00000499536.2	37	c.13G>T	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	G	38	7.025651	0.98010	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	3.97	1.81	0.25067	.	0.178568	0.26875	N	0.022051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.284	5.3618	0.16091	0.1114:0.2074:0.6812:0.0	.	.	.	.	X	5	.	ENSP00000342709:G5X	G	+	1	0	PRR19	47505589	0.728000	0.28080	0.920000	0.36463	0.166000	0.22503	1.280000	0.33202	0.622000	0.30249	0.655000	0.94253	GGA		0.582	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		24	84	1	0	1.10923e-09	1	1.37634e-09	24	84				
RUNX1T1	862	broad.mit.edu	37	8	92998397	92998397	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:92998397G>T	ENST00000523629.1	-	9	1688	c.1234C>A	c.(1234-1236)Cac>Aac	p.H412N	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H375N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H375N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H412N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H423N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H375N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	412	Poly-Ser.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCTAGAGTGGCTGCTGCTA	0.488																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1234-1236)Cac>Aac		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							100.0	109.0	106.0					8																	92998397		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998397G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1234C>A	8.37:g.92998397G>T	ENSP00000428543:p.His412Asn					RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H375N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H423N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H375N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H412N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H375N	p.H412N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1688	-			412			Poly-Ser.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1234C>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024938	0.54683	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.67	5.67	0.87782	.	0.046398	0.85682	D	0.000000	T	0.19725	0.0474	N	0.08118	0	0.80722	D	1	B;B;B	0.20261	0.034;0.043;0.018	B;B;B	0.25759	0.028;0.063;0.039	T	0.10870	-1.0611	10	0.13470	T	0.59	-20.0775	19.773	0.96379	0.0:0.0:1.0:0.0	.	423;412;385	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	N	412;385;412;375;375;375;423;385	ENSP00000428543:H412N;ENSP00000379520:H385N;ENSP00000265814:H412N;ENSP00000353504:H375N;ENSP00000390137:H375N;ENSP00000428742:H375N;ENSP00000402257:H423N;ENSP00000430728:H385N	ENSP00000265814:H412N	H	-	1	0	RUNX1T1	93067573	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.434000	0.97515	2.677000	0.91161	0.655000	0.94253	CAC		0.488	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		48	154	1	0	7.05377e-20	1	9.76473e-20	48	154				
YOD1	55432	broad.mit.edu	37	1	207222565	207222565	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:207222565G>A	ENST00000315927.4	-	2	893	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L	YOD1_ENST00000367084.1_Silent_p.L239L|YOD1_ENST00000391927.1_Silent_p.L239L|PFKFB2_ENST00000411990.2_5'Flank	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	283					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					AAAATGGTCAGAGGAGGTGTA	0.423																																						ENST00000367084.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(715-717)Ctg>Ttg		YOD1 deubiquitinase							185.0	181.0	183.0					1																	207222565		2203	4300	6503	SO:0001819	synonymous_variant	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222565G>A		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.847C>T	1.37:g.207222565G>A						YOD1_ENST00000391927.1_Silent_p.L239L|YOD1_ENST00000315927.4_Silent_p.L283L	p.L239L	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN			4	919	-	Prostate(682;0.19)		283			OTU.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	ENST00000315927.4	37	c.715C>T	CCDS31002.1																																																																																				0.423	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		16	94	0	0	0	1	0	16	94				
ASCL1	429	broad.mit.edu	37	12	103352481	103352481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:103352481G>C	ENST00000266744.3	+	1	1018	c.459G>C	c.(457-459)aaG>aaC	p.K153N		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	153	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						CCAACAAGAAGATGAGTAAGG	0.667																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(457-459)aaG>aaC		achaete-scute family bHLH transcription factor 1							42.0	37.0	39.0					12																	103352481		2203	4300	6503	SO:0001583	missense	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352481G>C	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.459G>C	12.37:g.103352481G>C	ENSP00000266744:p.Lys153Asn						p.K153N	NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN			1	1018	+			153			Helix-loop-helix motif.		A8K3C4|Q9BQ30	Missense_Mutation	SNP	ENST00000266744.3	37	c.459G>C	CCDS31886.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346631	0.82022	.	.	ENSG00000139352	ENST00000266744	D	0.99232	-5.6	4.65	4.65	0.58169	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000001	D	0.99563	0.9843	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97898	1.0301	10	0.87932	D	0	-20.8968	17.148	0.86771	0.0:0.0:1.0:0.0	.	153	P50553	ASCL1_HUMAN	N	153	ENSP00000266744:K153N	ENSP00000266744:K153N	K	+	3	2	ASCL1	101876611	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.532000	0.67154	2.133000	0.65898	0.462000	0.41574	AAG		0.667	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			9	38	0	0	0	1	0	9	38				
FER	2241	broad.mit.edu	37	5	108436099	108436099	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:108436099G>T	ENST00000281092.4	+	17	2311	c.1927G>T	c.(1927-1929)Ggt>Tgt	p.G643C	FER_ENST00000438717.2_Missense_Mutation_p.G468C	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TCCTCTAGGAGGTGATTTCCT	0.353																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1927-1929)Ggt>Tgt		fer (fps/fes related) tyrosine kinase							57.0	63.0	61.0					5																	108436099		2202	4299	6501	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108436099G>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1927G>T	5.37:g.108436099G>T	ENSP00000281092:p.Gly643Cys					FER_ENST00000438717.2_Missense_Mutation_p.G468C	p.G643C	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	17	2311	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	643			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1927G>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558987	0.86231	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.90197	-2.63;-2.63	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97204	0.9086	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.98065	1.0395	10	0.87932	D	0	-7.3251	19.7239	0.96154	0.0:0.0:1.0:0.0	.	643	P16591	FER_HUMAN	C	643;468	ENSP00000281092:G643C;ENSP00000394297:G468C	ENSP00000281092:G643C	G	+	1	0	FER	108463998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.269000	0.95684	2.745000	0.94114	0.557000	0.71058	GGT		0.353	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		3	13	1	0	1	1	1	3	13				
AGO3	192669	broad.mit.edu	37	1	36499931	36499931	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:36499931A>G	ENST00000373191.4	+	13	2097	c.1748A>G	c.(1747-1749)cAa>cGa	p.Q583R	AGO3_ENST00000246314.6_Missense_Mutation_p.Q349R	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	583	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										GTACCTCATCAAAGGTAAGAT	0.313																																						ENST00000373191.4																			0											c.(1747-1749)cAa>cGa		argonaute RISC catalytic component 3							53.0	56.0	55.0					1																	36499931		2203	4300	6503	SO:0001583	missense	192669							g.chr1:36499931A>G	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1748A>G	1.37:g.36499931A>G	ENSP00000362287:p.Gln583Arg					AGO3_ENST00000246314.6_Missense_Mutation_p.Q349R	p.Q583R	NM_024852.3	NP_079128.2					13	2097	+								B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.1748A>G	CCDS399.1	.	.	.	.	.	.	.	.	.	.	A	9.499	1.102648	0.20632	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.28454	1.61;1.61	4.65	4.65	0.58169	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	N	0.13168	0.305	0.80722	D	1	B	0.22909	0.077	B	0.33121	0.158	T	0.05784	-1.0864	10	0.10902	T	0.67	-42.79	14.3595	0.66761	1.0:0.0:0.0:0.0	.	583	Q9H9G7	AGO3_HUMAN	R	583;349	ENSP00000362287:Q583R;ENSP00000246314:Q349R	ENSP00000246314:Q349R	Q	+	2	0	EIF2C3	36272518	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.364000	0.59479	1.855000	0.53841	0.533000	0.62120	CAA		0.313	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		6	21	0	0	0	1	0	6	21				
MROH2B	133558	broad.mit.edu	37	5	41057403	41057403	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:41057403C>G	ENST00000399564.4	-	8	1266	c.816G>C	c.(814-816)ttG>ttC	p.L272F	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	272																	TGGATCTTCTCAAGCTCCTTG	0.418																																						ENST00000399564.4																			0											c.(814-816)ttG>ttC		maestro heat-like repeat family member 2B							58.0	55.0	56.0					5																	41057403		1851	4105	5956	SO:0001583	missense	133558							g.chr5:41057403C>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.816G>C	5.37:g.41057403C>G	ENSP00000382476:p.Leu272Phe					MROH2B_ENST00000506092.2_Intron	p.L272F	NM_173489.4	NP_775760.3					8	1266	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.816G>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256668	0.22965	.	.	ENSG00000171495	ENST00000399564	T	0.06687	3.27	5.21	3.44	0.39384	Armadillo-type fold (1);	0.311596	0.23602	N	0.046438	T	0.16938	0.0407	L	0.50333	1.59	0.09310	N	1	D	0.69078	0.997	D	0.65010	0.931	T	0.02829	-1.1105	10	0.39692	T	0.17	.	7.486	0.27432	0.0:0.8121:0.0:0.1879	.	272	Q7Z745	HTRB2_HUMAN	F	272	ENSP00000382476:L272F	ENSP00000382476:L272F	L	-	3	2	HEATR7B2	41093160	0.188000	0.23250	0.377000	0.26055	0.106000	0.19336	0.359000	0.20233	1.573000	0.49748	-0.254000	0.11334	TTG		0.418	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	13	0	0	0	1	0	3	13				
ST18	9705	broad.mit.edu	37	8	53049182	53049182	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:53049182T>C	ENST00000276480.7	-	19	2951	c.2268A>G	c.(2266-2268)aaA>aaG	p.K756K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	756					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCATGAGGGATTTTAGAGTCT	0.483																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2266-2268)aaA>aaG		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							62.0	53.0	56.0					8																	53049182		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53049182T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2268A>G	8.37:g.53049182T>C							p.K756K	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			19	2951	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	756					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2268A>G	CCDS6149.1																																																																																				0.483	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			9	18	0	0	0	1	0	9	18				
NPEPPS	9520	broad.mit.edu	37	17	45673780	45673780	+	Silent	SNP	C	C	T	rs201718491		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:45673780C>T	ENST00000322157.4	+	13	1725	c.1488C>T	c.(1486-1488)acC>acT	p.T496T	NPEPPS_ENST00000530173.1_Silent_p.T492T|NPEPPS_ENST00000544660.1_Silent_p.T416T	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	496					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGATGAATACCTGGACCAAAC	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17247	0.0		0.0	False		,,,				2504	0.0					ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1486-1488)acC>acT		aminopeptidase puromycin sensitive							56.0	53.0	54.0					17																	45673780		1826	4103	5929	SO:0001819	synonymous_variant	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45673780C>T	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1488C>T	17.37:g.45673780C>T						NPEPPS_ENST00000544660.1_Silent_p.T416T|NPEPPS_ENST00000530173.1_Silent_p.T492T	p.T496T	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			13	1725	+			496					B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	ENST00000322157.4	37	c.1488C>T	CCDS45721.1																																																																																				0.328	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		4	5	0	0	0	1	0	4	5				
SGIP1	84251	broad.mit.edu	37	1	67101628	67101628	+	Splice_Site	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:67101628A>C	ENST00000371037.4	+	4	178	c.101A>C	c.(100-102)cAg>cCg	p.Q34P	SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	34					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAATTCCAGCAGCCCAGCCCA	0.383																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.e4-1		SH3-domain GRB2-like (endophilin) interacting protein 1							98.0	98.0	98.0					1																	67101628		2203	4300	6503	SO:0001630	splice_region_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67101628A>C	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.100-1A>C	1.37:g.67101628A>C						SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000468286.1_Intron	p.Q34_splice	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			4	178	+			34					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Splice_Site	SNP	ENST00000371037.4	37	c.99_splice	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238264	0.39598	.	.	ENSG00000118473	ENST00000424320;ENST00000371037	T;T	0.18338	2.22;2.47	5.81	5.81	0.92471	.	.	.	.	.	T	0.04770	0.0129	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	9	0.23891	T	0.37	.	10.7058	0.45954	0.794:0.206:0.0:0.0	.	34	Q9BQI5	SGIP1_HUMAN	P	34	ENSP00000410439:Q34P;ENSP00000360076:Q34P	ENSP00000360076:Q34P	Q	+	2	0	SGIP1	66874216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.884000	0.39668	2.220000	0.72140	0.533000	0.62120	CAG		0.383	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	Missense_Mutation	31	84	0	0	0	1	0	31	84				
CHIT1	1118	broad.mit.edu	37	1	203188951	203188951	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:203188951C>T	ENST00000367229.1	-	8	790	c.756G>A	c.(754-756)caG>caA	p.Q252Q	CHIT1_ENST00000255427.3_Silent_p.Q233Q|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.Q243Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	252					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGGTCCCCTTCTGCAGCCACT	0.582											OREG0006436	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CHIT1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(754-756)caG>caA		chitinase 1 (chitotriosidase)							38.0	35.0	36.0					1																	203188951		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203188951C>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.756G>A	1.37:g.203188951C>T			OREG0006436	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CHIT1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2135	CHIT1_ENST00000255427.3_Silent_p.Q233Q|CHIT1_ENST00000535569.1_Silent_p.Q243Q|CHIT1_ENST00000484834.1_5'UTR	p.Q252Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			8	790	-			252					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.756G>A	CCDS1436.1																																																																																				0.582	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		4	50	0	0	0	1	0	4	50				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	28	0	0	0	1	0	4	28				
SPATA31D1	389763	broad.mit.edu	37	9	84608275	84608275	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:84608275C>T	ENST00000344803.2	+	4	2937	c.2890C>T	c.(2890-2892)Cgt>Tgt	p.R964C		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	964					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCTAAGTCCCGTAGTCGAAG	0.512																																						ENST00000344803.2																			0											c.(2890-2892)Cgt>Tgt		SPATA31 subfamily D, member 1							103.0	99.0	100.0					9																	84608275		1884	4128	6012	SO:0001583	missense	389763							g.chr9:84608275C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2890C>T	9.37:g.84608275C>T	ENSP00000341988:p.Arg964Cys						p.R964C	NM_001001670.2	NP_001001670.1					4	2937	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2890C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	7.666	0.686003	0.14973	.	.	ENSG00000214929	ENST00000344803	T	0.06218	3.33	2.32	0.381	0.16228	.	1.840540	0.03916	U	0.282776	T	0.12347	0.0300	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.23691	-1.0181	10	0.56958	D	0.05	.	4.3569	0.11183	0.0:0.6445:0.0:0.3555	.	964	Q6ZQQ2	F75D1_HUMAN	C	964	ENSP00000341988:R964C	ENSP00000341988:R964C	R	+	1	0	FAM75D1	83798095	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.698000	0.00390	0.112000	0.17975	0.456000	0.33151	CGT		0.512	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		66	54	0	0	0	1	0	66	54				
BZW1	9689	broad.mit.edu	37	2	201683058	201683058	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:201683058G>A	ENST00000409600.1	+	8	1216	c.761G>A	c.(760-762)cGt>cAt	p.R254H	BZW1_ENST00000452790.2_Missense_Mutation_p.R286H|BZW1_ENST00000409226.1_Missense_Mutation_p.R258H	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	254	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						ATCGGAGCTCGTAAGGAGCTC	0.403																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(760-762)cGt>cAt		basic leucine zipper and W2 domains 1							41.0	41.0	41.0					2																	201683058		1793	4052	5845	SO:0001583	missense	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201683058G>A	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.761G>A	2.37:g.201683058G>A	ENSP00000386474:p.Arg254His					BZW1_ENST00000409226.1_Missense_Mutation_p.R258H|BZW1_ENST00000452790.2_Missense_Mutation_p.R286H	p.R254H	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			8	1216	+			254			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	c.761G>A	CCDS56156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.182536|5.182536	0.94885|0.94885	.|.	.|.	ENSG00000082153|ENSG00000082153	ENST00000410110;ENST00000409600;ENST00000431249;ENST00000409226;ENST00000452790|ENST00000359893	T;T;T;T|.	0.79141|.	0.71;-1.21;-1.21;-1.24|.	5.87|5.87	5.87|5.87	0.94306|0.94306	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78194|0.78194	0.4245|0.4245	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D;D|.	0.56746|.	0.972;0.977;0.972|.	P;P;P|.	0.48840|.	0.592;0.572;0.488|.	T|T	0.75291|0.75291	-0.3369|-0.3369	10|5	0.33940|.	T|.	0.23|.	-4.3897|-4.3897	20.5827|20.5827	0.99408|0.99408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	258;286;254|.	B4DWF7;B4DLZ8;Q7L1Q6|.	.;.;BZW1_HUMAN|.	H|I	254;254;170;258;286|4	ENSP00000387086:R254H;ENSP00000386474:R254H;ENSP00000386837:R258H;ENSP00000394316:R286H|.	ENSP00000386837:R258H|.	R|V	+|+	2|1	0|0	BZW1|BZW1	201391303|201391303	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.711000|0.711000	0.40976|0.40976	9.690000|9.690000	0.98676|0.98676	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.403	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		13	38	0	0	0	1	0	13	38				
ERICH1	157697	broad.mit.edu	37	8	623640	623640	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:623640T>A	ENST00000262109.7	-	4	789	c.712A>T	c.(712-714)Agc>Tgc	p.S238C	ERICH1_ENST00000522706.1_Missense_Mutation_p.S144C|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	238	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTTCCTCGCTAGCGTCCGCA	0.622																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(712-714)Agc>Tgc		glutamate-rich 1							127.0	118.0	121.0					8																	623640		2203	4300	6503	SO:0001583	missense	157697							g.chr8:623640T>A		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.712A>T	8.37:g.623640T>A	ENSP00000262109:p.Ser238Cys					ERICH1_ENST00000522706.1_Missense_Mutation_p.S144C	p.S238C	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	789	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	238			Glu-rich.		A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.712A>T	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	T	0.055	-1.238431	0.01493	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.34667	1.35;1.41	1.34	-2.68	0.06041	.	.	.	.	.	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B;B;B	0.33637	0.42;0.42;0.222	B;B;B	0.36504	0.041;0.041;0.226	T	0.18967	-1.0320	9	0.56958	D	0.05	.	0.3845	0.00400	0.2421:0.2663:0.1396:0.352	.	238;238;144	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	C	238;144;238	ENSP00000428635:S144C;ENSP00000262109:S238C	ENSP00000262109:S238C	S	-	1	0	ERICH1	613640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.313000	0.08103	-4.326000	0.00056	-2.979000	0.00080	AGC		0.622	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		38	181	0	0	0	1	0	38	181				
FAT3	120114	broad.mit.edu	37	11	92533682	92533682	+	Silent	SNP	C	C	T	rs562892801		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:92533682C>T	ENST00000298047.6	+	9	7520	c.7503C>T	c.(7501-7503)taC>taT	p.Y2501Y	FAT3_ENST00000525166.1_Silent_p.Y2351Y|FAT3_ENST00000409404.2_Silent_p.Y2501Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2501	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGCACATACGTAGCTGAGG	0.498										TCGA Ovarian(4;0.039)			C|||	1	0.000199681	0.0	0.0	5008	,	,		20380	0.0		0.0	False		,,,				2504	0.001					ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7501-7503)taC>taT		FAT atypical cadherin 3							86.0	83.0	84.0					11																	92533682		2052	4202	6254	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533682C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7503C>T	11.37:g.92533682C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.Y2501Y|FAT3_ENST00000525166.1_Silent_p.Y2351Y	p.Y2501Y			Q8TDW7	FAT3_HUMAN			9	7520	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2501			Cadherin 23.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.7503C>T																																																																																					0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	27	0	0	0	1	0	7	27				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	31	0	0	0	1	0	3	31				
ZNF676	163223	broad.mit.edu	37	19	22364066	22364066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:22364066G>T	ENST00000397121.2	-	3	770	c.453C>A	c.(451-453)tgC>tgA	p.C151*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C151fs*1(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGAAAGCATGCAAAATGATC	0.333																																						ENST00000397121.2																			1	Deletion - Frameshift(1)	p.C151fs*1(1)	lung(1)	NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(451-453)tgC>tgA		zinc finger protein 676							100.0	96.0	97.0					19																	22364066		2013	4206	6219	SO:0001587	stop_gained	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364066G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.453C>A	19.37:g.22364066G>T	ENSP00000380310:p.Cys151*						p.C151*	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	770	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	151					A8MVX5	Nonsense_Mutation	SNP	ENST00000397121.2	37	c.453C>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	15.25	2.777595	0.49786	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.637	-1.2	0.09554	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	4.0614	0.09841	0.0:0.248:0.5037:0.2483	.	.	.	.	X	151	.	ENSP00000380310:C151X	C	-	3	2	ZNF676	22155906	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-0.718000	0.04980	-0.323000	0.08602	0.195000	0.17529	TGC		0.333	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		21	57	1	0	2.39187e-15	1	3.25049e-15	21	57				
ZPLD1	131368	broad.mit.edu	37	3	102196375	102196377	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:102196375_102196377delTCT	ENST00000491959.1	+	18	2043_2045	c.1161_1163delTCT	c.(1159-1164)tctctt>tct	p.L390del	ZPLD1_ENST00000466937.1_In_Frame_Del_p.L390del|ZPLD1_ENST00000306176.1_In_Frame_Del_p.L406del			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	390						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CGAGCTTTTCTCTTCTTCTGTGC	0.468																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(1207-1212)tct>tc		zona pellucida-like domain containing 1																																				SO:0001651	inframe_deletion	131368					integral to membrane		g.chr3:102196375_102196377delTCT	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1161_1163delTCT	3.37:g.102196381_102196383delTCT	ENSP00000420265:p.Leu390del					ZPLD1_ENST00000466937.1_In_Frame_Del_p.SL387del|ZPLD1_ENST00000491959.1_In_Frame_Del_p.SL387del	p.SL403del	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			11	1309_1311	+			387					Q49AS1|Q8WU36	In_Frame_Del	DEL	ENST00000491959.1	37	c.1209_1211delTCT																																																																																					0.468	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		27	204						27	204	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160137291	160137291	+	Frame_Shift_Del	DEL	A	A	-	rs200195444		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:160137291delA	ENST00000357388.3	+	12	2268	c.1817delA	c.(1816-1818)gaafs	p.E606fs	SMC4_ENST00000344722.5_Frame_Shift_Del_p.E606fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.E581fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.E606fs|SMC4_ENST00000360111.2_Frame_Shift_Del_p.E606fs|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	606	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATAATTCAAGAAAAAAAATCT	0.338																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1816-1818)gafs		structural maintenance of chromosomes 4							56.0	62.0	60.0					3																	160137291		2203	4298	6501	SO:0001589	frameshift_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160137291delA	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1817delA	3.37:g.160137291delA	ENSP00000349961:p.Glu606fs					SMC4_ENST00000469762.1_Frame_Shift_Del_p.E581fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.E606fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.E606fs|SMC4_ENST00000360111.2_Frame_Shift_Del_p.E606fs|RP11-432B6.3_ENST00000483754.1_Intron	p.E606fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		12	2268	+			606			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Del	DEL	ENST00000357388.3	37	c.1817delA	CCDS3189.1																																																																																				0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			34	109						34	109	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87655581	87655581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:87655581delT	ENST00000411767.2	+	13	2047	c.1984delT	c.(1984-1986)tttfs	p.F663fs	PTPN13_ENST00000427191.2_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000316707.6_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000436978.1_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000511467.1_Frame_Shift_Del_p.F663fs			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	663	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAGAATTAAATTTTTTATGGA	0.348																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1984-1986)ttfs		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							80.0	75.0	77.0					4																	87655581		1789	4055	5844	SO:0001589	frameshift_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87655581delT		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1984delT	4.37:g.87655581delT	ENSP00000407249:p.Phe663fs					PTPN13_ENST00000427191.2_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000316707.6_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000411767.2_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000511467.1_Frame_Shift_Del_p.F663fs	p.F663fs	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	13	2464	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	663			FERM.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Frame_Shift_Del	DEL	ENST00000411767.2	37	c.1984delT	CCDS47094.1																																																																																				0.348	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			2	4						2	4	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11346484	11346485	+	Splice_Site	INS	-	-	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:11346484_11346485insT	ENST00000304623.8	-	9	1816_1817	c.1627_1628insA	c.(1627-1629)aga>aAga	p.R543fs	CTNND2_ENST00000458100.2_Splice_Site_p.R110fs|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Splice_Site_p.R543fs|CTNND2_ENST00000511377.1_Splice_Site_p.R452fs|CTNND2_ENST00000503622.1_Splice_Site_p.R206fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	543					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTTTACCCACCTGGGATCTTTC	0.46																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.e9+1		catenin (cadherin-associated protein), delta 2																																				SO:0001630	splice_region_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346484_11346485insT	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1628+1->A	5.37:g.11346485_11346485dupT						CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Splice_Site_p.R110_splice|CTNND2_ENST00000359640.2_Splice_Site_p.R543_splice|CTNND2_ENST00000511377.1_Splice_Site_p.R452_splice|CTNND2_ENST00000503622.1_Splice_Site_p.R206_splice	p.R543_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			9	1816_1817	-			543					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Splice_Site	INS	ENST00000304623.8	37	c.1628_splice	CCDS3881.1																																																																																				0.460	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	Frame_Shift_Ins	22	102						22	102	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130841136	130841136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:130841136delC	ENST00000509018.1	-	10	1227	c.1022delG	c.(1021-1023)ggafs	p.G341fs	RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.G56fs|CTC-432M15.3_ENST00000514667.1_Frame_Shift_Del_p.G391fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.G341fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	341					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAACTATTTCCCATAAACAA	0.358																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1021-1023)gafs		Rap guanine nucleotide exchange factor (GEF) 6							110.0	105.0	106.0					5																	130841136		2203	4300	6503	SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130841136delC	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1022delG	5.37:g.130841136delC	ENSP00000421684:p.Gly341fs					RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.G56fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.G341fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.G391fs	p.G341fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	10	1227	-			341					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Del	DEL	ENST00000509018.1	37	c.1022delG	CCDS34225.1																																																																																				0.358	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		10	52						10	52	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150946859	150946860	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:150946859_150946860insC	ENST00000261800.5	-	1	1645_1646	c.1633_1634insG	c.(1633-1635)gagfs	p.E545fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	545	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTTCCTTCTCCCGGCGAAAA	0.48																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1633-1635)gaafs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946859_150946860insC	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1634dupG	5.37:g.150946862_150946862dupC	ENSP00000261800:p.Glu545fs						p.E545fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1645_1646	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	545			Cadherin 4.		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.1633_1634insG	CCDS4317.1																																																																																				0.480	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		23	61						23	61	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35182262	35182262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:35182262delT	ENST00000274938.7	+	1	67	c.67delT	c.(67-69)tacfs	p.Y23fs	SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.Y23fs	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGCCGCCCAGTACAGCAAAGC	0.741																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(67-69)acfs		signal peptide, CUB domain, EGF-like 3							4.0	5.0	4.0					6																	35182262		1979	3954	5933	SO:0001589	frameshift_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35182262delT	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.67delT	6.37:g.35182262delT	ENSP00000274938:p.Tyr23fs					SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.Y23fs	p.Y23fs	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			1	67	+			23						Frame_Shift_Del	DEL	ENST00000274938.7	37	c.67delT	CCDS4800.1																																																																																				0.741	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		2	4						2	4	---	---	---	---
RP11-340I6.7	0	broad.mit.edu	37	7	63351415	63351415	+	lincRNA	DEL	G	G	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:63351415delG	ENST00000587736.1	-	0	688																											CAATGGCCCAGGGGGATGTGC	0.617																																						ENST00000587736.1																			0																																																			0							g.chr7:63351415delG																													7.37:g.63351415delG														0	688	-									RNA	DEL	ENST00000587736.1	37																																																																																						0.617	RP11-340I6.7-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000447757.1			7	18						7	18	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134884646	134884646	+	Frame_Shift_Del	DEL	G	G	-	rs375320427	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:134884646delG	ENST00000607359.1	+	1	214	c.214delG	c.(214-216)ggafs	p.G72fs				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAGCTTTCCCGGAGCAAAGGT	0.652																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(214-216)gafs		G protein-coupled receptor 123							23.0	25.0	24.0					10																	134884646		1560	3566	5126	SO:0001589	frameshift_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134884646delG	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.214delG	10.37:g.134884646delG	ENSP00000475778:p.Gly72fs						p.G72fs			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	1	214	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Frame_Shift_Del	DEL	ENST00000607359.1	37	c.214delG																																																																																					0.652	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			3	5						3	5	---	---	---	---
NEIL1	79661	broad.mit.edu	37	15	75641258	75641258	+	Frame_Shift_Del	DEL	C	C	-	rs201690765		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:75641258delC	ENST00000564784.1	+	3	641	c.12delC	c.(10-12)ggcfs	p.G4fs	NEIL1_ENST00000355059.4_Frame_Shift_Del_p.G4fs|NEIL1_ENST00000569035.1_Frame_Shift_Del_p.G4fs|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	4					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TGCCTGAGGGCCCCGAGCTGC	0.657								Base excision repair (BER), DNA glycosylases																														ENST00000564784.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(10-12)ggfs	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 1 (E. coli)							30.0	33.0	32.0					15																	75641258		2197	4291	6488	SO:0001589	frameshift_variant	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75641258delC	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.12delC	15.37:g.75641258delC	ENSP00000457352:p.Gly4fs					NEIL1_ENST00000569035.1_Frame_Shift_Del_p.G4fs|NEIL1_ENST00000355059.4_Frame_Shift_Del_p.G4fs|NEIL1_ENST00000567959.1_Intron	p.G4fs			Q96FI4	NEIL1_HUMAN			3	641	+			4					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Frame_Shift_Del	DEL	ENST00000564784.1	37	c.12delC	CCDS10278.1																																																																																				0.657	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		17	40						17	40	---	---	---	---
SLC16A5	9121	broad.mit.edu	37	17	73089780	73089780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:73089780delC	ENST00000450736.2	+	2	464	c.49delC	c.(49-51)ctgfs	p.L18fs	SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Frame_Shift_Del_p.L18fs|SLC16A5_ENST00000538213.2_Frame_Shift_Del_p.L58fs|SLC16A5_ENST00000580123.1_Frame_Shift_Del_p.L18fs			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	18					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGGTGGTGCTGCTGGCCAC	0.647																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(49-51)tgfs		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						61.0	52.0	55.0					17																	73089780		2203	4300	6503	SO:0001589	frameshift_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73089780delC	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.49delC	17.37:g.73089780delC	ENSP00000390564:p.Leu18fs					SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Frame_Shift_Del_p.L18fs|SLC16A5_ENST00000580123.1_Frame_Shift_Del_p.L18fs|SLC16A5_ENST00000538213.2_Frame_Shift_Del_p.L58fs	p.L18fs			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		2	464	+	all_lung(278;0.226)		18					B4E288	Frame_Shift_Del	DEL	ENST00000450736.2	37	c.49delC	CCDS11713.1																																																																																				0.647	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		18	51						18	51	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8155123	8155124	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:8155123_8155124delCT	ENST00000600128.1	-	49	6457_6458	c.6043_6044delAG	c.(6043-6045)agtfs	p.S2015fs	FBN3_ENST00000601739.1_Frame_Shift_Del_p.S2015fs|FBN3_ENST00000270509.2_Frame_Shift_Del_p.S2015fs			Q75N90	FBN3_HUMAN	fibrillin 3	2015	TB 8.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGCAGAAACTCTGCCGTGTG	0.619																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6043-6045)tfs		fibrillin 3																																				SO:0001589	frameshift_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8155123_8155124delCT		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6043_6044delAG	19.37:g.8155125_8155126delCT	ENSP00000470498:p.Ser2015fs					FBN3_ENST00000601739.1_Frame_Shift_Del_p.S2015fs|FBN3_ENST00000270509.2_Frame_Shift_Del_p.S2015fs	p.S2015fs			Q75N90	FBN3_HUMAN			49	6457_6458	-			2015			TB 8.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Del	DEL	ENST00000600128.1	37	c.6043_6044delAG	CCDS12196.1																																																																																				0.619	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		24	29						24	29	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:56227349delG	ENST00000341744.3	-	4	943	c.624delC	c.(622-624)cccfs	p.P208fs	PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	208					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGTTACTGCTGGGGGGGCAGG	0.682																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(622-624)ccfs		prostate transmembrane protein, androgen induced 1							28.0	33.0	31.0					20																	56227349		2203	4298	6501	SO:0001589	frameshift_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227349delG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.624delC	20.37:g.56227349delG	ENSP00000345826:p.Pro208fs					PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs	p.P208fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	943	-			208					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Del	DEL	ENST00000341744.3	37	c.624delC	CCDS13463.1																																																																																				0.682	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		29	67						29	67	---	---	---	---
